Source: UNIPROT

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: rs63750710
rs63750710
MLH1
0.925 0.160 3 37020411 missense variant A/C snv
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		0.800 1.000 35 1996 2017
dbSNP: rs397508267
rs397508267
CFTR
1.000 0.120 7 117590353 missense variant A/C snv 4.0E-06
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.800 1.000 34 1990 2015
dbSNP: rs104894836
rs104894836
GLA ; HNRNPH2 ; RPL36A-HNRNPH2
1.000 0.160 X 101407738 missense variant A/C snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		0.800 1.000 30 1989 2017
dbSNP: rs104894838
rs104894838
GLA ; RPL36A-HNRNPH2
1.000 0.160 X 101400699 missense variant A/C snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		0.800 1.000 30 1989 2017
dbSNP: rs104894256
rs104894256
MEN1
1.000 0.120 11 64810045 missense variant A/C snv
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1 		0.800 1.000 28 1997 2017
dbSNP: rs199475598
rs199475598
PAH
0.925 0.120 12 102912794 missense variant A/C snv 1.7E-04 2.2E-04
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.810 1.000 28 1991 2018
dbSNP: rs121913636
rs121913636
MYH7
0.925 0.080 14 23428540 missense variant A/C snv
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.800 1.000 25 1992 2017
dbSNP: rs397508869
rs397508869
BRCA1
1.000 0.080 17 43094138 missense variant A/C snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 1.000 25 1994 2017
dbSNP: rs1553619461
rs1553619461
VHL
1.000 0.120 3 10142160 missense variant A/C snv
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		0.800 1.000 24 1993 2017
dbSNP: rs121907998
rs121907998
ATP7B
1.000 0.160 13 51961849 missense variant A/C snv 5.2E-04 4.0E-04
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		0.800 1.000 23 1995 2017
dbSNP: rs751798708
rs751798708
ATP7B
1.000 0.160 13 51958331 missense variant A/C snv 7.0E-06
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		0.800 1.000 23 1995 2017
dbSNP: rs121907975
rs121907975
HEXA
1.000 0.120 15 72355591 missense variant A/C snv
CUI: C0039373
Disease: Tay-Sachs Disease
Tay-Sachs Disease 		0.800 1.000 22 1988 2016
dbSNP: rs121907979
rs121907979
HEXA ; HEXA-AS1
1.000 0.120 15 72375857 missense variant A/C snv
CUI: C0039373
Disease: Tay-Sachs Disease
Tay-Sachs Disease 		0.800 1.000 22 1988 2016
dbSNP: rs137852458
rs137852458
F8
1.000 0.080 X 154896146 missense variant A/C snv
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		0.800 1.000 22 1989 2013
dbSNP: rs137852475
rs137852475
F8
1.000 0.080 X 154992945 missense variant A/C snv
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		0.800 1.000 22 1989 2013
dbSNP: rs267607160
rs267607160
TTR
1.000 0.120 18 31595189 missense variant A/C snv
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		0.800 1.000 22 1986 2014
dbSNP: rs111033646
rs111033646
GALT
1.000 0.120 9 34647119 splice acceptor variant A/C snv
CUI: C0268151
Disease: Classical galactosemia
Classical galactosemia 		0.800 1.000 21 1991 2016
dbSNP: rs111033673
rs111033673
GALT
1.000 0.120 9 34647682 missense variant A/C snv
CUI: C0268151
Disease: Classical galactosemia
Classical galactosemia 		0.800 1.000 21 1991 2016
dbSNP: rs121917937
rs121917937
SCN1A ; SCN1A-AS1
0.925 0.040 2 166052866 missense variant A/C snv
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 1.000 21 2003 2017
dbSNP: rs121917944
rs121917944
SCN1A ; SCN1A-AS1 ; LOC102724058
1.000 0.040 2 166002479 missense variant A/C snv
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.700 1.000 21 2003 2017
dbSNP: rs121917977
rs121917977
SCN1A ; SCN1A-AS1 ; LOC102724058
1.000 0.040 2 165992156 missense variant A/C snv
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.700 1.000 21 2003 2017
dbSNP: rs121917987
rs121917987
SCN1A ; SCN1A-AS1 ; LOC102724058
1.000 0.040 2 166002570 missense variant A/C snv
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.700 1.000 21 2003 2017
dbSNP: rs121918737
rs121918737
SCN1A ; SCN1A-AS1
1.000 0.040 2 166037868 missense variant A/C snv
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 1.000 21 2003 2017
dbSNP: rs121918787
rs121918787
SCN1A ; SCN1A-AS1
1.000 0.040 2 166038017 missense variant A/C snv
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.700 1.000 21 2003 2017
dbSNP: rs121918809
rs121918809
SCN1A ; SCN1A-AS1 ; LOC102724058
0.925 0.040 2 165992009 missense variant A/C snv
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.700 1.000 21 2003 2017