Source: ALL
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: rs1010184002
rs1010184002
PEX6
60 0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 0.700 0
dbSNP: rs1057518872
rs1057518872
GJA1
5 0.882 0.160 6 121447287 missense variant T/C snv 0.700 0
dbSNP: rs1555038111
rs1555038111
KMT2A
37 0.701 0.480 11 118478153 stop gained T/G snv 0.700 0
dbSNP: rs368869806
rs368869806
PTCH1
97 0.614 0.480 9 95485875 splice acceptor variant C/T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs61753219
rs61753219
PEX6
64 0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 0.700 0
dbSNP: rs1131692286
rs1131692286
PAX6
3 0.882 0.080 11 31802767 frameshift variant C/- delins 0.010 1.000 1 2020 2020
dbSNP: rs1131692293
rs1131692293
PAX6
2 0.925 0.080 11 31801767 missense variant C/T snv 0.010 1.000 1 2020 2020
dbSNP: rs1156822431
rs1156822431
VSX2
1 1.000 0.080 14 74239784 missense variant G/A snv 7.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs193929392
rs193929392
ARHGAP6 ; HCCS
4 0.851 0.120 X 11118574 missense variant G/A snv 0.010 1.000 1 2007 2007
dbSNP: rs200671094
rs200671094
BMP4
4 0.851 0.080 14 53950508 missense variant G/A;T snv 1.2E-04; 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs397514640
rs397514640
PAX6
4 0.882 0.160 11 31802733 missense variant G/A snv 0.010 1.000 1 2020 2020