rs121909764

Orientation

minus

Stabilized

minus

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

Make rs121909764(A;A)

Reference

GRCh38 38.1/141

Chromosome

11

Position

71438980

Gene

DHCR7

is a	snp
is	mentioned by
dbSNP	rs121909764
dbSNP (classic)	rs121909764
ClinGen	rs121909764
ebi	rs121909764
HLI	rs121909764
Exac	rs121909764
Gnomad	rs121909764
Varsome	rs121909764
LitVar	rs121909764
Map	rs121909764
PheGenI	rs121909764
Biobank	rs121909764
1000 genomes	rs121909764
hgdp	rs121909764
ensembl	rs121909764
geneview	rs121909764
scholar	rs121909764
google	rs121909764
pharmgkb	rs121909764
gwascentral	rs121909764
openSNP	rs121909764
23andMe	rs121909764
SNPshot	rs121909764
SNPdbe	rs121909764
MSV3d	rs121909764
GWAS Ctlg	rs121909764

Max Magnitude

3

OMIM	602858
Desc
Variant	0006
Related	also

ClinVar
Risk	rs121909764(A;A)
Alt	rs121909764(A;A)
Reference	Rs121909764(G;G)
Significance	Pathogenic
Disease	Smith-Lemli-Opitz syndrome
Variation	info
Gene	DHCR7
CLNDBN	Smith-Lemli-Opitz syndrome
Reversed	1
HGVS	NC_000011.9:g.71150026C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000007183.4,