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: rs11555217
rs11555217
DHCR7
5 0.882 0.160 11 71441401 stop gained C/G;T snv 7.7E-04 0.700 0
dbSNP: rs138659167
rs138659167
DHCR7
20 0.807 0.320 11 71435840 splice acceptor variant C/A;G snv 5.6E-05; 3.9E-03 0.700 0
dbSNP: rs779896782
rs779896782
DHCR7
5 0.882 0.160 11 71439055 missense variant A/C;G snv 8.0E-06 0.700 0