rs104886040

minus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs104886040(C;C)

Make rs104886040(C;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

71443993

Gene

DHCR7

is a	snp
is	mentioned by
dbSNP	rs104886040
dbSNP (classic)	rs104886040
ClinGen	rs104886040
ebi	rs104886040
HLI	rs104886040
Exac	rs104886040
Gnomad	rs104886040
Varsome	rs104886040
LitVar	rs104886040
Map	rs104886040
PheGenI	rs104886040
Biobank	rs104886040
1000 genomes	rs104886040
hgdp	rs104886040
ensembl	rs104886040
geneview	rs104886040
scholar	rs104886040
google	rs104886040
pharmgkb	rs104886040
gwascentral	rs104886040
openSNP	rs104886040
23andMe	rs104886040
SNPshot	rs104886040
SNPdbe	rs104886040
MSV3d	rs104886040
GWAS Ctlg	rs104886040

Max Magnitude

0

ClinVar
Risk	rs104886040(C;C)
Alt	rs104886040(C;C)
Reference	Rs104886040(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.71155039C>G
CLNSRC
CLNACC

[PMID 10677299 ] Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome.