Gene: DHCR7 ×
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: rs1032242817
rs1032242817
DHCR7
17 0.807 0.320 11 71441307 stop gained C/T snv 8.0E-06 7.0E-06 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