rs104886037

Orientation

minus

Stabilized

minus

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

Make rs104886037(A;T)

Make rs104886037(T;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

71444129

Gene

DHCR7

is a	snp
is	mentioned by
dbSNP	rs104886037
dbSNP (classic)	rs104886037
ClinGen	rs104886037
ebi	rs104886037
HLI	rs104886037
Exac	rs104886037
Gnomad	rs104886037
Varsome	rs104886037
LitVar	rs104886037
Map	rs104886037
PheGenI	rs104886037
Biobank	rs104886037
1000 genomes	rs104886037
hgdp	rs104886037
ensembl	rs104886037
geneview	rs104886037
scholar	rs104886037
google	rs104886037
pharmgkb	rs104886037
gwascentral	rs104886037
openSNP	rs104886037
23andMe	rs104886037
SNPshot	rs104886037
SNPdbe	rs104886037
MSV3d	rs104886037
GWAS Ctlg	rs104886037

Max Magnitude

0

ClinVar
Risk	rs104886037(T;T)
Alt	rs104886037(T;T)
Reference	Rs104886037(A;A)
Significance	Pathogenic
Disease	Smith-Lemli-Opitz syndrome
Variation	info
Gene	DHCR7
CLNDBN	Smith-Lemli-Opitz syndrome
Reversed	1
HGVS	NC_000011.9:g.71155175T>A
CLNSRC
CLNACC

[PMID 11111101] Biochemical and genetic aspects of 7-dehydrocholesterol reductase and Smith-Lemli-Opitz syndrome.