rs80338855

Orientation

minus

Stabilized

minus

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

Make rs80338855(T;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

71441347

Gene

DHCR7

is a	snp
is	mentioned by
dbSNP	rs80338855
dbSNP (classic)	rs80338855
ClinGen	rs80338855
ebi	rs80338855
HLI	rs80338855
Exac	rs80338855
Gnomad	rs80338855
Varsome	rs80338855
LitVar	rs80338855
Map	rs80338855
PheGenI	rs80338855
Biobank	rs80338855
1000 genomes	rs80338855
hgdp	rs80338855
ensembl	rs80338855
geneview	rs80338855
scholar	rs80338855
google	rs80338855
pharmgkb	rs80338855
gwascentral	rs80338855
openSNP	rs80338855
23andMe	rs80338855
SNPshot	rs80338855
SNPdbe	rs80338855
MSV3d	rs80338855
GWAS Ctlg	rs80338855

Max Magnitude

3

ClinVar
Risk	rs80338855(G;G) rs80338855(T;T)
Alt	rs80338855(G;G) rs80338855(T;T)
Reference	Rs80338855(C;C)
Significance	Pathogenic
Disease	Smith-Lemli-Opitz syndrome
Variation	info
Gene	DHCR7
CLNDBN	Smith-Lemli-Opitz syndrome
Reversed	1
HGVS	NC_000011.9:g.71152393G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000020437.1,

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