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: rs483352919
rs483352919
DCHS1
1 1.000 0.240 11 6625235 missense variant T/A;C snv 4.1E-06 0.800 1.000 1 2013 2013
dbSNP: rs369091875
rs369091875
DCHS1
2 0.925 0.240 11 6633485 missense variant C/G;T snv 1.1E-03 0.700 0
dbSNP: rs483352917
rs483352917
DCHS1
1 1.000 0.240 11 6633009 stop gained C/A snv 0.700 0
dbSNP: rs483352918
rs483352918
DCHS1
1 1.000 0.240 11 6632969 frameshift variant G/- del 0.700 0