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: rs369100678
rs369100678
VPS13C
2 0.925 0.040 15 61958608 missense variant C/G snv 0.800 1.000 1 2016 2016
dbSNP: rs869312809
rs869312809
VPS13C
2 0.925 0.040 15 61915631 splice donor variant A/C snv 0.700 0
dbSNP: rs869312810
rs869312810
VPS13C
2 0.925 0.040 15 61882652 stop gained C/A snv 0.700 0
dbSNP: rs869312811
rs869312811
VPS13C
2 0.925 0.040 15 61947292 frameshift variant G/- delins 0.700 0
dbSNP: rs869320761
rs869320761
VPS13C
1 1.000 15 62013058 frameshift variant -/TCTG delins 0.700 0