Source: CURATED ×
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs13361160
rs13361160 		1 1.000 0.040 5 10169711 downstream gene variant T/C snv 0.34 0.800 1.000 1 2013 2013
dbSNP: rs17122021
rs17122021 		1 11 118274971 regulatory region variant C/A;T snv 0.800 1.000 1 2009 2009
dbSNP: rs2562456
rs2562456
LINC00664
2 1.000 0.040 19 21483408 non coding transcript exon variant C/T snv 0.77 0.800 1.000 1 2009 2009
dbSNP: rs1972597
rs1972597 		2 1.000 0.040 17 77598082 intron variant T/C snv 0.31 0.700 1.000 1 2016 2016
dbSNP: rs3862188
rs3862188 		2 1.000 0.040 1 247702471 intron variant T/C snv 0.44 0.700 1.000 1 2016 2016
dbSNP: rs1057518927
rs1057518927
OAT
4 0.925 0.080 10 124402952 missense variant T/C snv 0.700 0
dbSNP: rs1057518946
rs1057518946
GJB1
8 0.882 0.080 X 71223816 missense variant G/T snv 0.700 0
dbSNP: rs121908552
rs121908552
SCN4A ; LOC105371858
13 0.763 0.160 17 63964587 missense variant C/A;G;T snv 4.0E-06 0.700 0
dbSNP: rs1445287184
rs1445287184
PTPRQ ; LOC105369867
7 1.000 0.120 12 80670365 stop gained C/T snv 3.2E-05 2.8E-05 0.700 0
dbSNP: rs1554781700
rs1554781700
COL5A1
12 0.851 0.240 9 134701287 missense variant G/T snv 0.700 0
dbSNP: rs1555735545
rs1555735545
STRN4 ; FKRP
22 0.851 0.160 19 46746071 5 prime UTR variant G/A snv 0.700 0
dbSNP: rs28937900
rs28937900
FKRP
33 0.752 0.160 19 46756276 missense variant C/A;T snv 1.0E-03 0.700 0
dbSNP: rs397514698
rs397514698
GNAQ
41 0.667 0.400 9 77797577 missense variant C/T snv 0.700 0
dbSNP: rs781565158
rs781565158
PYROXD1
21 0.851 0.120 12 21452130 missense variant A/G snv 4.7E-05 2.1E-05 0.700 0