Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs80338853
rs80338853
DHCR7
1.000 0.080 11 71444036 missense variant G/A snv 4.0E-05 9.1E-05
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		0.840 1.000 8 1998 2015
dbSNP: rs80338853
rs80338853
DHCR7
1.000 0.080 11 71444036 missense variant G/A snv 4.0E-05 9.1E-05
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0