DHCR7, 7-dehydrocholesterol reductase, 1717

N. diseases: 266; N. variants: 96
Disease: Long face ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1032242817
rs1032242817 		0.807 0.320 11 71441307 stop gained C/T snv 8.0E-06 7.0E-06
CUI: C1836047
Disease: Long face
Long face 		0.700 0
dbSNP: rs138659167
rs138659167 		0.807 0.320 11 71435840 splice acceptor variant C/A;G snv 5.6E-05; 3.9E-03
CUI: C1836047
Disease: Long face
Long face 		0.700 0