Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs3807989
rs3807989
CAV1
1.000 0.080 7 116546187 intron variant A/G snv 0.53
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.870 0.875 8 2012 2019
dbSNP: rs3807989
rs3807989
CAV1
1.000 0.080 7 116546187 intron variant A/G snv 0.53
CUI: C0429087
Disease: Electrocardiogram: P-R interval
Electrocardiogram: P-R interval 		0.800 1.000 5 2010 2019
dbSNP: rs11773845
rs11773845
CAV1
0.925 0.120 7 116551247 intron variant C/A snv 0.53
CUI: C0429087
Disease: Electrocardiogram: P-R interval
Electrocardiogram: P-R interval 		0.800 1.000 4 2012 2019
dbSNP: rs1213469537
rs1213469537
CAV1
0.882 0.080 7 116559145 missense variant C/T snv 4.0E-06 1.4E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.780 1.000 8 2002 2013
dbSNP: rs11773845
rs11773845
CAV1
0.925 0.120 7 116551247 intron variant C/A snv 0.53
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.710 1.000 4 2017 2018
dbSNP: rs1049334
rs1049334
CAV1
0.851 0.280 7 116560326 3 prime UTR variant G/A;T snv
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.700 1.000 1 2017 2017
dbSNP: rs13242816
rs13242816
CAV1
7 116549322 intron variant C/T snv 7.6E-02
CUI: C0429021
Disease: P wave duration (observable entity)
P wave duration (observable entity) 		0.700 1.000 1 2017 2017
dbSNP: rs1997572
rs1997572
CAV1
1.000 0.080 7 116558774 intron variant A/C;G;T snv
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.700 1.000 1 2017 2017
dbSNP: rs3801995
rs3801995
CAV1
7 116550543 intron variant C/T snv 0.29
CUI: C0429021
Disease: P wave duration (observable entity)
P wave duration (observable entity) 		0.700 1.000 1 2017 2017
dbSNP: rs797044871
rs797044871
CAV1
0.882 0.120 7 116559228 frameshift variant TT/- delins
CUI: C2675861
Disease: Lipodystrophy, Congenital Generalized, Type 3
Lipodystrophy, Congenital Generalized, Type 3 		0.700 1.000 1 2015 2015
dbSNP: rs797044871
rs797044871
CAV1
0.882 0.120 7 116559228 frameshift variant TT/- delins
CUI: C3809192
Disease: PULMONARY HYPERTENSION, PRIMARY, 3
PULMONARY HYPERTENSION, PRIMARY, 3 		0.700 1.000 1 2015 2015
dbSNP: rs797045176
rs797045176
CAV1
0.925 0.120 7 116559174 stop gained C/T snv
CUI: C2675861
Disease: Lipodystrophy, Congenital Generalized, Type 3
Lipodystrophy, Congenital Generalized, Type 3 		0.700 1.000 1 2015 2015
dbSNP: rs879255566
rs879255566
CAV1
1.000 7 116559221 frameshift variant C/- delins
CUI: C3809192
Disease: PULMONARY HYPERTENSION, PRIMARY, 3
PULMONARY HYPERTENSION, PRIMARY, 3 		0.700 1.000 1 2012 2012
dbSNP: rs9920
rs9920
CAV1
1.000 0.040 7 116560038 3 prime UTR variant T/C snv 6.7E-02
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs9920
rs9920
CAV1
1.000 0.040 7 116560038 3 prime UTR variant T/C snv 6.7E-02
CUI: C0429028
Disease: QT interval feature (observable entity)
QT interval feature (observable entity) 		0.700 1.000 1 2014 2014
dbSNP: rs121434501
rs121434501
CAV1
0.925 0.120 7 116526606 stop gained G/T snv 4.0E-06 7.0E-06
CUI: C2675861
Disease: Lipodystrophy, Congenital Generalized, Type 3
Lipodystrophy, Congenital Generalized, Type 3 		0.700 0
dbSNP: rs587777017
rs587777017
CAV1
1.000 7 116559224 frameshift variant A/- del
CUI: C3809192
Disease: PULMONARY HYPERTENSION, PRIMARY, 3
PULMONARY HYPERTENSION, PRIMARY, 3 		0.700 0
dbSNP: rs587780295
rs587780295
CAV1
1.000 7 116559151 frameshift variant TT/A delins
CUI: C3809192
Disease: PULMONARY HYPERTENSION, PRIMARY, 3
PULMONARY HYPERTENSION, PRIMARY, 3 		0.700 0
dbSNP: rs797044871
rs797044871
CAV1
0.882 0.120 7 116559228 frameshift variant TT/- delins
CUI: C3807567
Disease: PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME
PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME 		0.700 0
dbSNP: rs797045176
rs797045176
CAV1
0.925 0.120 7 116559174 stop gained C/T snv
CUI: C3807567
Disease: PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME
PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME 		0.700 0
dbSNP: rs879255578
rs879255578
CAV1
1.000 7 116559150 frameshift variant A/- del
CUI: C3807567
Disease: PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME
PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME 		0.700 0
dbSNP: rs1213469537
rs1213469537
CAV1
0.882 0.080 7 116559145 missense variant C/T snv 4.0E-06 1.4E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.060 1.000 6 2002 2013
dbSNP: rs3807987
rs3807987
CAV1
0.732 0.280 7 116539780 intron variant G/A snv 7.6E-02
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 1.000 2 2017 2019
dbSNP: rs3807987
rs3807987
CAV1
0.732 0.280 7 116539780 intron variant G/A snv 7.6E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.020 1.000 2 2017 2019
dbSNP: rs7804372
rs7804372
CAV1
0.716 0.320 7 116554174 intron variant T/A snv 0.27
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.020 0.500 2 2011 2013