Source: CLINVAR

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: rs386834236
rs386834236
GAA
0.882 0.120 17 80104542 intron variant T/G snv 3.4E-03 3.8E-03
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 18 1988 2015
dbSNP: rs386834236
rs386834236
GAA
0.882 0.120 17 80104542 intron variant T/G snv 3.4E-03 3.8E-03
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 18 1988 2015
dbSNP: rs1800728
rs1800728
ABCA4
0.807 0.080 1 94011395 intron variant A/G snv 2.3E-04 3.0E-04
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 17 2000 2019
dbSNP: rs386834236
rs386834236
GAA
0.882 0.120 17 80104542 intron variant T/G snv 3.4E-03 3.8E-03
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.700 1.000 17 1989 2017
dbSNP: rs80358061
rs80358061
BRCA1
0.882 0.200 17 43104967 intron variant A/C snv 1.2E-05 7.0E-06
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.700 1.000 15 1994 2015
dbSNP: rs80358163
rs80358163
BRCA1
0.882 0.200 17 43104968 intron variant T/C snv
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.700 1.000 13 1998 2015
dbSNP: rs80358079
rs80358079
BRCA1
0.827 0.200 17 43057147 intron variant C/T snv
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.700 1.000 12 2000 2015
dbSNP: rs1555943503
rs1555943503
RPS6KA3
1.000 X 20195156 intron variant T/C snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 11 2001 2015
dbSNP: rs1555943503
rs1555943503
RPS6KA3
1.000 X 20195156 intron variant T/C snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 11 2001 2015
dbSNP: rs386834236
rs386834236
GAA
0.882 0.120 17 80104542 intron variant T/G snv 3.4E-03 3.8E-03
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease 		0.700 1.000 11 1994 2015
dbSNP: rs63751011
rs63751011
MAPT
0.925 0.120 17 46010418 intron variant C/T snv
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.700 1.000 11 1998 2016
dbSNP: rs1800728
rs1800728
ABCA4
0.807 0.080 1 94011395 intron variant A/G snv 2.3E-04 3.0E-04
CUI: C1858806
Disease: CONE-ROD DYSTROPHY 3 (disorder)
CONE-ROD DYSTROPHY 3 (disorder) 		0.700 1.000 10 2000 2014
dbSNP: rs5030855
rs5030855
PAH
1.000 0.120 12 102843790 intron variant C/T snv 2.5E-04 2.7E-04
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.700 1.000 10 1991 2015
dbSNP: rs73715573
rs73715573
CFTR ; CFTR-AS1
0.925 0.160 7 117548630 intron variant T/G snv 8.6E-03; 5.9E-05 9.0E-03
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		0.700 1.000 10 1992 2007
dbSNP: rs73715573
rs73715573
CFTR ; CFTR-AS1
0.925 0.160 7 117548630 intron variant T/G snv 8.6E-03; 5.9E-05 9.0E-03
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.700 1.000 10 1992 2007
dbSNP: rs774925473
rs774925473
ATM ; C11orf65
0.925 0.200 11 108309110 intron variant A/G snv 2.4E-05 4.2E-05
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 1.000 10 1996 2015
dbSNP: rs765696008
rs765696008
LDLR ; MIR6886
0.925 0.080 19 11113268 intron variant G/A;C snv 2.8E-05; 4.0E-06
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		0.700 1.000 9 2001 2015
dbSNP: rs80358163
rs80358163
BRCA1
0.882 0.200 17 43104968 intron variant T/C snv
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 1.000 9 1998 2019
dbSNP: rs36212066
rs36212066
MYBPC3
0.882 0.080 11 47332275 intron variant AGGGAAGCCATCCAGGCTGAGAGGG/- delins 4.0E-03 8.9E-04
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 1.000 8 2003 2015
dbSNP: rs541208710
rs541208710
SLC25A20
1.000 0.080 3 48884134 intron variant A/C snv 7.2E-05 2.8E-05
CUI: C0342791
Disease: Carnitine-Acylcarnitine Translocase Deficiency
Carnitine-Acylcarnitine Translocase Deficiency 		0.700 1.000 8 2000 2015
dbSNP: rs80358061
rs80358061
BRCA1
0.882 0.200 17 43104967 intron variant A/C snv 1.2E-05 7.0E-06
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 1.000 8 1994 2013
dbSNP: rs1055204017
rs1055204017
NPC1
1.000 0.160 18 23552736 intron variant C/G;T snv
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		0.700 1.000 7 2009 2017
dbSNP: rs201580118
rs201580118
HEXB
1.000 0.120 5 74720617 intron variant G/A;C snv 4.8E-05; 8.0E-06
CUI: C0036161
Disease: Sandhoff Disease
Sandhoff Disease 		0.700 1.000 7 1989 2016
dbSNP: rs35328027
rs35328027
HBB
1.000 0.080 11 5225872 intron variant A/C;G snv
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.700 1.000 7 1982 2012
dbSNP: rs369973784
rs369973784
AGL
0.882 0.080 1 99916398 intron variant A/G snv 5.8E-05 5.6E-05
CUI: C0017922
Disease: Glycogen Storage Disease Type III
Glycogen Storage Disease Type III 		0.700 1.000 7 1998 2015