rs121909766

Orientation

minus

Stabilized

minus

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

Make rs121909766(G;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

71437936

Gene

DHCR7

is a	snp
is	mentioned by
dbSNP	rs121909766
dbSNP (classic)	rs121909766
ClinGen	rs121909766
ebi	rs121909766
HLI	rs121909766
Exac	rs121909766
Gnomad	rs121909766
Varsome	rs121909766
LitVar	rs121909766
Map	rs121909766
PheGenI	rs121909766
Biobank	rs121909766
1000 genomes	rs121909766
hgdp	rs121909766
ensembl	rs121909766
geneview	rs121909766
scholar	rs121909766
google	rs121909766
pharmgkb	rs121909766
gwascentral	rs121909766
openSNP	rs121909766
23andMe	rs121909766
SNPshot	rs121909766
SNPdbe	rs121909766
MSV3d	rs121909766
GWAS Ctlg	rs121909766

Max Magnitude

3

OMIM	602858
Desc
Variant	0016
Related	also

ClinVar
Risk	rs121909766(G;G)
Alt	rs121909766(G;G)
Reference	Rs121909766(A;A)
Significance	Pathogenic
Disease	Smith-Lemli-Opitz syndrome
Variation	info
Gene	DHCR7
CLNDBN	Smith-Lemli-Opitz syndrome
Reversed	1
HGVS	NC_000011.9:g.71148982T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000007192.3,