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: rs2042608
rs2042608
VPS13C
2 15 61940181 intron variant C/A snv 0.48 0.700 1.000 1 2018 2018
dbSNP: rs780094
rs780094
GCKR
62 0.658 0.400 2 27518370 intron variant T/C snv 0.67 0.700 1.000 1 2018 2018
dbSNP: rs853789
rs853789
ABCB11
4 2 168944978 intron variant A/G;T snv 0.75 0.700 1.000 1 2018 2018