rs80338862

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 rs80338862(A;A)

Reference

GRCh38 38.1/141

Chromosome

11

Position

71435575

Gene

DHCR7

is a	snp
is	mentioned by
dbSNP	rs80338862
dbSNP (classic)	rs80338862
ClinGen	rs80338862
ebi	rs80338862
HLI	rs80338862
Exac	rs80338862
Gnomad	rs80338862
Varsome	rs80338862
LitVar	rs80338862
Map	rs80338862
PheGenI	rs80338862
Biobank	rs80338862
1000 genomes	rs80338862
hgdp	rs80338862
ensembl	rs80338862
geneview	rs80338862
scholar	rs80338862
google	rs80338862
pharmgkb	rs80338862
gwascentral	rs80338862
openSNP	rs80338862
23andMe	rs80338862
SNPshot	rs80338862
SNPdbe	rs80338862
MSV3d	rs80338862
GWAS Ctlg	rs80338862

Max Magnitude

3

ClinVar
Risk	rs80338862(A;A)
Alt	rs80338862(A;A)
Reference	Rs80338862(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.71146621C>T
CLNSRC	HGMD UniProtKB (protein)
CLNACC	RCV000020434.2, RCV000079640.3,

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