rs143312232

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;C)	3	Unaffected carrier of a Smith-Lemli-Opitz syndrome mutation
(C;G)	3	Unaffected carrier of a Smith-Lemli-Opitz syndrome mutation
(G;G)	0	common in clinvar

Make rs143312232(C;C)

Reference

GRCh38.p2 38.2/144

Chromosome

11

Position

71441392

Gene

DHCR7

is a	snp
is	mentioned by
dbSNP	rs143312232
dbSNP (classic)	rs143312232
ClinGen	rs143312232
ebi	rs143312232
HLI	rs143312232
Exac	rs143312232
Gnomad	rs143312232
Varsome	rs143312232
LitVar	rs143312232
Map	rs143312232
PheGenI	rs143312232
Biobank	rs143312232
1000 genomes	rs143312232
hgdp	rs143312232
ensembl	rs143312232
geneview	rs143312232
scholar	rs143312232
google	rs143312232
pharmgkb	rs143312232
gwascentral	rs143312232
openSNP	rs143312232
23andMe	rs143312232
SNPshot	rs143312232
SNPdbe	rs143312232
MSV3d	rs143312232
GWAS Ctlg	rs143312232

Max Magnitude

3

ClinVar
Risk	rs143312232(A;A) rs143312232(C;C)
Alt	rs143312232(A;A) rs143312232(C;C)
Reference	Rs143312232(G;G)
Significance	Probable-Pathogenic
Disease	Smith-Lemli-Opitz syndrome not provided
Variation	info
Gene	DHCR7
CLNDBN	Smith-Lemli-Opitz syndrome not provided
Reversed	0
HGVS	NC_000011.9:g.71152438G>A; NC_000011.9:g.71152438G>C
CLNSRC	UniProtKB (protein) HGMD
CLNACC	RCV000169290.1, RCV000153143.2, RCV000179381.1,