rs80338858

Orientation

minus

Stabilized

minus

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

Make rs80338858(G;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

71437869

Gene

DHCR7

is a	snp
is	mentioned by
dbSNP	rs80338858
dbSNP (classic)	rs80338858
ClinGen	rs80338858
ebi	rs80338858
HLI	rs80338858
Exac	rs80338858
Gnomad	rs80338858
Varsome	rs80338858
LitVar	rs80338858
Map	rs80338858
PheGenI	rs80338858
Biobank	rs80338858
1000 genomes	rs80338858
hgdp	rs80338858
ensembl	rs80338858
geneview	rs80338858
scholar	rs80338858
google	rs80338858
pharmgkb	rs80338858
gwascentral	rs80338858
openSNP	rs80338858
23andMe	rs80338858
SNPshot	rs80338858
SNPdbe	rs80338858
MSV3d	rs80338858
GWAS Ctlg	rs80338858

GMAF

0.0004591

Max Magnitude

3

ClinVar
Risk	rs80338858(G;G) rs80338858(T;T)
Alt	rs80338858(G;G) rs80338858(T;T)
Reference	Rs80338858(C;C)
Significance	Other
Disease	not specified Smith-Lemli-Opitz syndrome
Variation	info
Gene	DHCR7
CLNDBN	not specified Smith-Lemli-Opitz syndrome
Reversed	1
HGVS	NC_000011.9:g.71148915G>A; NC_000011.9:g.71148915G>C
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000180216.2, RCV000020440.1,

[PMID 16207203] Recent insights into the Smith-Lemli-Opitz syndrome.