rs80338857

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 rs80338857(A;A)

Reference

GRCh38 38.1/141

Chromosome

11

Position

71438985

Gene

DHCR7

is a	snp
is	mentioned by
dbSNP	rs80338857
dbSNP (classic)	rs80338857
ClinGen	rs80338857
ebi	rs80338857
HLI	rs80338857
Exac	rs80338857
Gnomad	rs80338857
Varsome	rs80338857
LitVar	rs80338857
Map	rs80338857
PheGenI	rs80338857
Biobank	rs80338857
1000 genomes	rs80338857
hgdp	rs80338857
ensembl	rs80338857
geneview	rs80338857
scholar	rs80338857
google	rs80338857
pharmgkb	rs80338857
gwascentral	rs80338857
openSNP	rs80338857
23andMe	rs80338857
SNPshot	rs80338857
SNPdbe	rs80338857
MSV3d	rs80338857
GWAS Ctlg	rs80338857

Max Magnitude

3

ClinVar
Risk	rs80338857(A;A)
Alt	rs80338857(A;A)
Reference	Rs80338857(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.71150031C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000020439.1,

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