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: rs779896782
rs779896782
DHCR7
0.882 0.160 11 71439055 missense variant A/C;G snv 8.0E-06
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		0.700 0
dbSNP: rs779896782
rs779896782
DHCR7
0.882 0.160 11 71439055 missense variant A/C;G snv 8.0E-06
CUI: C2677180
Disease: Congenital microcephaly
Congenital microcephaly 		0.700 0
dbSNP: rs779896782
rs779896782
DHCR7
0.882 0.160 11 71439055 missense variant A/C;G snv 8.0E-06
CUI: C1849185
Disease: Elevated 7-dehydrocholesterol
Elevated 7-dehydrocholesterol 		0.700 0
dbSNP: rs779896782
rs779896782
DHCR7
0.882 0.160 11 71439055 missense variant A/C;G snv 8.0E-06
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		0.700 0
dbSNP: rs779896782
rs779896782
DHCR7
0.882 0.160 11 71439055 missense variant A/C;G snv 8.0E-06
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		0.700 0