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: rs17271305
rs17271305
VPS13C
1 15 62040781 intron variant A/G;T snv 0.800 1.000 1 2010 2010
dbSNP: rs17271340
rs17271340
VPS13C
2 15 62055686 intron variant C/T snv 0.33 0.700 1.000 1 2018 2018
dbSNP: rs2042608
rs2042608
VPS13C
2 15 61940181 intron variant C/A snv 0.48 0.700 1.000 1 2018 2018