rs104886041

Orientation

minus

Stabilized

minus

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

Make rs104886041(C;C)

Reference

GRCh38 38.1/141

Chromosome

11

Position

71444018

Gene

DHCR7

is a	snp
is	mentioned by
dbSNP	rs104886041
dbSNP (classic)	rs104886041
ClinGen	rs104886041
ebi	rs104886041
HLI	rs104886041
Exac	rs104886041
Gnomad	rs104886041
Varsome	rs104886041
LitVar	rs104886041
Map	rs104886041
PheGenI	rs104886041
Biobank	rs104886041
1000 genomes	rs104886041
hgdp	rs104886041
ensembl	rs104886041
geneview	rs104886041
scholar	rs104886041
google	rs104886041
pharmgkb	rs104886041
gwascentral	rs104886041
openSNP	rs104886041
23andMe	rs104886041
SNPshot	rs104886041
SNPdbe	rs104886041
MSV3d	rs104886041
GWAS Ctlg	rs104886041

Max Magnitude

3

ClinVar
Risk	rs104886041(C;C)
Alt	rs104886041(C;C)
Reference	Rs104886041(T;T)
Significance	Pathogenic
Disease	Smith-Lemli-Opitz syndrome
Variation	info
Gene	DHCR7
CLNDBN	Smith-Lemli-Opitz syndrome
Reversed	1
HGVS	NC_000011.9:g.71155064A>G
CLNSRC
CLNACC

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