rs104886032

Orientation

minus

Stabilized

minus

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

Make rs104886032(A;G)

Make rs104886032(G;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

71444142

Gene

DHCR7

is a	snp
is	mentioned by
dbSNP	rs104886032
dbSNP (classic)	rs104886032
ClinGen	rs104886032
ebi	rs104886032
HLI	rs104886032
Exac	rs104886032
Gnomad	rs104886032
Varsome	rs104886032
LitVar	rs104886032
Map	rs104886032
PheGenI	rs104886032
Biobank	rs104886032
1000 genomes	rs104886032
hgdp	rs104886032
ensembl	rs104886032
geneview	rs104886032
scholar	rs104886032
google	rs104886032
pharmgkb	rs104886032
gwascentral	rs104886032
openSNP	rs104886032
23andMe	rs104886032
SNPshot	rs104886032
SNPdbe	rs104886032
MSV3d	rs104886032
GWAS Ctlg	rs104886032

Max Magnitude

0

ClinVar
Risk	rs104886032(G;G)
Alt	rs104886032(G;G)
Reference	Rs104886032(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.71155188T>C
CLNSRC
CLNACC