COL5A1

Alternative Names

• collagen type V alpha 1 [HGNC]

SNPs

rsID	SNPedia	dbSNP	Chips	Special Name	Wild (plus)	Risk (plus)	Frequency	PubMed IDs
rs61735045			A45		GG	AA	A=0.034706	10602121 11992482 19370768
rs9409992			A45		CC	TT	T=0.487704
rs7044529			A45		CC	TT	T=0.203539	20719862 21098505 20485516 23291589 23513063 25675348
rs4842173			A45		CC	TT	C=0.265442
rs4842169			A45		GG	AA	A=0.344674
rs4842168			A45		CC	TT	T=0.439371
rs4842167			A45		CC	TT	C=0.326970
rs4240702			A45		TT	CC	T=0.441474
rs3922914			A45		CC	TT	C=0.260887
rs3811159			A45			GG	G=0.481617
rs3128615			A45		GG	AA	G=0.325449
rs3124300			A45		AA	GG	G=0.392329
rs12722			A45		CC	TT	T=0.413569	19956930 18443036 19042922 22894972 24085259 23347277 24755981 29143592 29632650 29799806 31791263
rs12686426			A45		TT	CC	C=0.232981
rs117688063			A45		CC	TT	T=0.021462
rs113382407			A45		AA	GG	G=0.012527
rs11103535			A45		GG	AA	A=0.087282
rs11103509			A45		TT	CC	C=0.146885
rs10858265			A45		TT	CC	C=0.438161
rs863223483			A5		TT	GG
rs863223478			A5		CC	TT
rs863223475			A5			TT
rs863223473			A5			CC
rs863223472			A5		GG
rs863223471			A5			TT
rs863223470			A5			GG
rs863223454			A5		CC	TT
rs863223453			A5		GG	CC
rs863223452			A5		GG	AA
rs863223448			A5		GG	CC
rs863223445			A5		GG	AA
rs863223444			A5		TT	AA
rs794727760			A5		CC
rs794727114			A5		GG	CC
rs772445337			A5		GG	AA	A=0.00002
rs9409919			A5		GG	AA	A=0.010281
rs863223466			A5		GG	AA	A=0.000004
rs863223443			A5		AA	GG
rs79945348			A5		GG	AA	A=0.083397
rs79210210			A5		CC	TT	T=0.026448
rs78821844			A5		GG	AA	A=0.015729
rs78743504			A5		CC	TT	T=0.050663
rs7874142			A5		GG	AA	G=0.376951	20834067
rs7870784			A5		TT	CC	C=0.174846
rs7867006			A5		AA	GG	G=0.025006
rs7864699			A4		TT	CC	C=0.327544
rs7864597			A5		GG	TT	G=0.170760
rs7855854			A5		CC	TT	T=0.111868
rs7855580			A4		GG	AA	A=0.219785
rs7849193			A4		AA	GG	G=0.203611
rs777625241			A5		CC	TT	T=0.000008
rs76804528			A5		CC	TT	T=0.016064
rs76548907			A5		GG	AA	A=0.021910
rs74942446			A5		TT	CC	C=0.033942
rs74559797			A5		GG	AA	A=0.025612
rs72774443			A5		GG	AA	A=0.021431
rs7045205			A5		AA	CC	C=0.075370
rs7036416			A5		TT	CC	T=0.352956
rs6537945			A5			TT	T=0.323124
rs6537942			A5		AA	GG	G=0.230951
rs6537941			A4		CC	AA	A=0.230640
rs62571352			A5		CC	TT	T=0.026854
rs62571325			A5		CC	TT	T=0.007438
rs61736966			A5			GG	G=0.009381
rs61326243			A5		GG	AA	A=0.070758
rs58509148			A5		TT	CC	C=0.097604
rs564375308			A5		CC	TT	T=0.000193
rs56381603			A5			GG	G=0.095399
rs557361751			A5		CC	TT	T=0.000125
rs4842170			A5		CC	TT	T=0.324374
rs4842165			A5		GG	AA	A=0.218009
rs4842163			A4		TT	CC	C=0.248726
rs4842161			A4		CC	AA	C=0.359463
rs4842157			A4		AA	GG	G=0.395236
rs4842153			A4		TT	CC	C=0.222206
rs4842152			A4			GG	G=0.293737
rs4842151			A4		CC	TT	T=0.199828
rs4842145			A4			TT	T=0.498272
rs4842138			A5		AA	GG	A=0.207465
rs4596720			A4		AA	GG	A=0.473154
rs4529530			A5		CC	TT	T=0.22935
rs4497045			A5			AA	A=0.062293
rs4446798			A5		CC	TT	T=0.095566
rs4341231			A4		TT	CC	T=0.406051
rs4335205			A4		AA	GG	A=0.407349
rs4240703			A4			AA	A=0.199016
rs4075077			A5			AA	A=0.014207
rs3935335			A4		GG	AA	G=0.235562
rs3922982			A4		TT	CC	C=0.177402
rs377138881			A5		GG	AA	A=0.000036
rs374020067			A5		CC	TT	T=0.000103
rs34816825			A5		CC	TT	T=0.032588
rs34326204			A5		AA	GG	G=0.260162
rs3196378			A4			AA	A=0.396431	29143592
rs3128606			A4		TT	CC	C=0.416141
rs3128601			A5		CC	TT	T=0.282970
rs3128597			A4			AA	A=0.290154
rs3128591			A4			GG	G=0.280812
rs3128589			A5		TT	CC	T=0.283352
rs3128578			A5		GG	AA	G=0.453467
rs3124297			A4		AA	GG	G=0.393898
rs3109687			A4		GG	TT	T=0.383258
rs3109678			A4			AA	A=0.075202
rs3109676			A4			AA	A=0.323928
rs3109670			A5			GG	G=0.474787
rs191197455			A5		GG	AA	A=0.002501
rs185912761			A5			TT	T=0.000187
rs146195310			A5		GG	AA	A=0.000044
rs13946			A5		CC	TT	C=0.251664
rs138162275			A5		GG	AA	A=0.016907
rs13288677			A4		AA	GG	G=0.370811
rs12684637			A4		CC	TT	T=0.290130
rs12554098			A4		GG	AA	A=0.098950
rs12552193			A5			GG	G=0.099898
rs12378768			A4		TT	GG	G=0.029530
rs12005196			A5		TT	GG	G=0.163433
rs11999245			A5		CC	TT	T=0.220964
rs117846223			A5		GG	AA	A=0.018818
rs117613650			A5		CC	TT	T=0.010297
rs117423337			A5		CC	TT	T=0.013825
rs117266966			A5		CC	TT	T=0.014693
rs116561240			A5		AA	GG	G=0.027260
rs116156416			A5		CC	TT	T=0.022482
rs114940455			A5		GG	AA	A=0.013969
rs113990411			A5		GG	AA	A=0.03568
rs113452150			A5		GG	AA	A=0.000234
rs113401160			A5		CC	TT	T=0.019137
rs11103508			A5		AA	CC	C=0.146781
rs11103479			A4			TT	T=0.337546
rs11103476			A5		GG	AA	A=0.074820
rs11103472			A5			GG	G=0.309283
rs11103468			A5		CC	TT	T=0.038609
rs11103455			A4		CC	TT	T=0.284842
rs10858266			A5		TT	CC	T=0.338343
rs10776908			A5		AA	GG	G=0.453452
rs10745384			A4		TT	CC	T=0.392504
rs10458324			A5		CC	TT	T=0.010815
rs863223457			A		AA	TT	T=0.000004
rs769752636			A		GG	AA	A=0.000004
rs765079080			A		TT	GG	G=0.000004
rs387906606			A		CC	TT	T=0.00001
rs183495554			A		TT	AA	C=0.001438
rs926426117			A		GG	CC	A=0.000006
rs886063678			A		GG	TT	T=0.000016
rs886043641			A		GG	TT
rs886042045			A		CC	TT
rs778834633			A		CC	AA	A=0.000290
rs766961124			A			AA	A=0.000040
rs764683617			A		GG	AA	A=0.000065
rs764644830			A		CC	TT	T=0.000150
rs764446683			A		CC	AA	T=0.000080
rs61739195			A		CC	TT	T=0.007485
rs61736827			A			TT	T=0.001354
rs61729495			A		GG	AA	A=0.000899
rs576332528			A			TT	T=0.000119
rs4842164			A		AA	GG	G=0.390601
rs4842158			A			AA	A=0.145993
rs4842139			A			TT	T=0.200537
rs4841926			A		CC	TT	C=0.214306	31922278
rs4319175			A		GG	AA	G=0.474890
rs4077962			A			AA	A=0.108284
rs377732839			A			TT	T=0.000056
rs376248130			A		AA	GG	G=0.000060
rs372109796			A		TT	GG	G=0.000064
rs370349155			A		CC	TT	T=0.000295
rs369093559			A		CC	TT	T=0.000171
rs3109677			A		CC	TT	T=0.479998
rs200595318			A			AA	A=0.000207
rs199836060			A		CC	TT	T=0.000529
rs183881247			A			TT	T=0.000295
rs149369116			A		CC	TT	T=0.000491
rs147729713			A		CC	TT	T=0.000099
rs147008954			A			GG	G=0.000733
rs144844792			A		CC	TT	T=0.000982
rs143859495			A			AA	A=0.000749
rs142890619			A		GG	AA	A=0.000368
rs142313124			A		CC	TT	T=0.000634
rs140797509			A			GG	G=0.000207
rs139468527			A		CC	TT	T=0.002162
rs139070070			A			TT	T=0.000518
rs1341789008			A			TT	T=0.000008
rs12004951			A		AA	CC	C=0.398270
rs12004527			A		CC	TT	T=0.060947
rs116003670			A		GG	AA	A=0.000390
rs1131691874			A		GG	AA	A=0.000004
rs11103501			A		AA	GG	G=0.200306
rs1085307855			A		CC
rs10776897			A			GG	G=0.438663
rs1064796684			A		GG	TT
rs1060502259			A		GG
rs1060502258			A		GG	TT
rs1060502255			A		AA
rs1060502250			A
rs1060502248			A		GG	AA
rs1057519596			A			CC
rs1057518871			A		CC
rs1057518004			A		CC	TT
rs80338764			5		GG	CC	C=0.00001
rs786205102			5		GG
rs786200923			5
rs9410002			4		GG	AA	A=0.424240
rs7849777			4		GG	AA	A=0.136882
rs72774480			4		CC	TT	T=0.022131
rs6537949			4			GG	G=0.186720
rs4842174			4		CC	TT	T=0.251856
rs4841934			4		TT	CC	T=0.360211
rs4841931			4			TT	T=0.376410
rs4563961			4		CC	TT	C=0.349970
rs4428739			4		CC	TT	T=0.112393
rs4072077			4		TT	GG	G=0.087698
rs3827848			4		GG	AA	A=0.147008
rs3811158			4		TT	CC	T=0.329949
rs3811157			4		TT	CC	T=0.442541
rs3811149			4		AA	GG	A=0.37506
rs3128575			4			TT	T=0.385178
rs3124932			4		CC	TT	T=0.417630
rs3124929			4		CC	TT	T=0.226857
rs13297317			4		AA	GG	G=0.035606
rs13294483			4			AA	A=0.160925
rs11998946			4		TT	CC	C=0.195687
rs11103544			4		TT	CC	C=0.213852
rs11103541			4		GG	AA	A=0.088916
rs10858286			4		CC	TT	C=0.458915
rs10858284			4		GG	AA	A=0.123901
rs786205101					AA	GG
rs786200922					GG	TT
rs121912933					CC	TT	T=0.00000
rs121912932					GG	AA	A=0.00001
rs863223458					GG	AA
rs786205100					CC
rs71746744								24085259 23347277 23624467 24755981
rs1064794972						CC
rs10628678					II		I=0.66931
rs1060502256					CC
rs1060502242
rs1057518653					TT

PubMed References

• 
  PMID:24085259 [rs12722,rs71746744]
• 
  PMID:11992482 [rs61735045]
• 
  PMID:20485516 [rs7044529]
• 
  PMID:23347277 [rs12722,rs71746744]
• 
  PMID:25675348 [rs7044529]
• 
  PMID:31922278 [rs4841926]
• 
  PMID:29799806 [rs12722]
• 
  PMID:22894972 [rs12722]
• 
  PMID:18443036 [rs12722]
• 
  PMID:20834067 [rs7874142]
• 
  PMID:1572660 [HGNC]
• 
  PMID:19042922 [rs12722]
• 
  PMID:10602121 [rs61735045]
• 
  PMID:23291589 [rs7044529]
• 
  PMID:26910848 [HGNC]
• 
  PMID:23624467 [rs71746744]
• 
  PMID:24755981 [rs12722,rs71746744]
• 
  PMID:20719862 [rs7044529]
• 
  PMID:23513063 [rs7044529]
• 
  PMID:29632650 [rs12722]
• 
  PMID:19956930 [rs12722]
• 
  PMID:21098505 [rs7044529]
• 
  PMID:31791263 [rs12722]
• 
  PMID:19370768 [rs61735045]
• 
  PMID:29143592 [rs12722,rs3196378]

Other References

• 
  SNPedia=COL5A1
• 
  EntrezGene=1289
• 
  PheGenI=1289
• 
  ClinVar=COL5A1
• 
  GeneCards=COL5A1
• 
  Wikipedia=COL5A1
• 
  Google=COL5A1