rs80338864

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 rs80338864(A;A)

Reference

GRCh38 38.1/141

Chromosome

11

Position

71435461

Gene

DHCR7

is a	snp
is	mentioned by
dbSNP	rs80338864
dbSNP (classic)	rs80338864
ClinGen	rs80338864
ebi	rs80338864
HLI	rs80338864
Exac	rs80338864
Gnomad	rs80338864
Varsome	rs80338864
LitVar	rs80338864
Map	rs80338864
PheGenI	rs80338864
Biobank	rs80338864
1000 genomes	rs80338864
hgdp	rs80338864
ensembl	rs80338864
geneview	rs80338864
scholar	rs80338864
google	rs80338864
pharmgkb	rs80338864
gwascentral	rs80338864
openSNP	rs80338864
23andMe	rs80338864
SNPshot	rs80338864
SNPdbe	rs80338864
MSV3d	rs80338864
GWAS Ctlg	rs80338864

Max Magnitude

3

OMIM	602858
Desc
Variant	0018
Related	also

ClinVar
Risk	rs80338864(A;A)
Alt	rs80338864(A;A)
Reference	Rs80338864(G;G)
Significance	Pathogenic
Disease	Smith-Lemli-Opitz syndrome not provided
Variation	info
Gene	DHCR7
CLNDBN	Smith-Lemli-Opitz syndrome not provided
Reversed	1
HGVS	NC_000011.9:g.71146507C>T
CLNSRC	HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000020435.3, RCV000079643.3,

[PMID 12949967] Identification of three patients with a very mild form of Smith-Lemli-Opitz syndrome.

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