rs104886035

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 rs104886035(T;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

71444163

Gene

DHCR7

is a	snp
is	mentioned by
dbSNP	rs104886035
dbSNP (classic)	rs104886035
ClinGen	rs104886035
ebi	rs104886035
HLI	rs104886035
Exac	rs104886035
Gnomad	rs104886035
Varsome	rs104886035
LitVar	rs104886035
Map	rs104886035
PheGenI	rs104886035
Biobank	rs104886035
1000 genomes	rs104886035
hgdp	rs104886035
ensembl	rs104886035
geneview	rs104886035
scholar	rs104886035
google	rs104886035
pharmgkb	rs104886035
gwascentral	rs104886035
openSNP	rs104886035
23andMe	rs104886035
SNPshot	rs104886035
SNPdbe	rs104886035
MSV3d	rs104886035
GWAS Ctlg	rs104886035

Max Magnitude

3

ClinVar
Risk	rs104886035(T;T)
Alt	rs104886035(T;T)
Reference	Rs104886035(C;C)
Significance	Pathogenic
Disease	not provided Smith-Lemli-Opitz syndrome
Variation	info
Gene	DHCR7
CLNDBN	not provided Smith-Lemli-Opitz syndrome
Reversed	1
HGVS	NC_000011.9:g.71155209G>A
CLNSRC	HGMD UniProtKB (protein)
CLNACC	RCV000079646.3, RCV000178160.1,

[PMID 9653161] Mutations in the Delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome.