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: rs1057518934
rs1057518934
HERC2
8 0.851 0.240 15 28211095 frameshift variant G/- delins 0.700 0
dbSNP: rs74315442
rs74315442
CSTB
10 0.851 0.200 21 43774297 stop gained G/A snv 4.0E-05 2.1E-05 0.700 0
dbSNP: rs753611141
rs753611141
PMPCA
14 0.827 0.280 9 136418847 missense variant G/A;T snv 2.4E-05; 4.0E-06 0.700 0
dbSNP: rs768643552
rs768643552
PMPCA
13 0.851 0.240 9 136418630 missense variant G/A;C snv 4.0E-06 0.700 0
dbSNP: rs864309505
rs864309505
TPP1
10 0.807 0.200 11 6615220 missense variant T/G snv 0.700 0
dbSNP: rs886039809
rs886039809
KIAA0586
11 0.807 0.480 14 58498824 frameshift variant A/- del 0.700 0