rs1057516610

Orientation

minus

Stabilized

minus

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

Make rs1057516610(C;T)

Make rs1057516610(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

11

Position

71435812

Gene

DHCR7

is a	snp
is	mentioned by
dbSNP	rs1057516610
dbSNP (classic)	rs1057516610
ClinGen	rs1057516610
ebi	rs1057516610
HLI	rs1057516610
Exac	rs1057516610
Gnomad	rs1057516610
Varsome	rs1057516610
LitVar	rs1057516610
Map	rs1057516610
PheGenI	rs1057516610
Biobank	rs1057516610
1000 genomes	rs1057516610
hgdp	rs1057516610
ensembl	rs1057516610
geneview	rs1057516610
scholar	rs1057516610
google	rs1057516610
pharmgkb	rs1057516610
gwascentral	rs1057516610
openSNP	rs1057516610
23andMe	rs1057516610
SNPshot	rs1057516610
SNPdbe	rs1057516610
MSV3d	rs1057516610
GWAS Ctlg	rs1057516610

Max Magnitude

0

ClinVar
Risk	rs1057516610(T;T)
Alt	rs1057516610(T;T)
Reference	Rs1057516610(C;C)
Significance	Probable-Pathogenic
Disease	Smith-Lemli-Opitz syndrome
Variation	info
Gene	DHCR7
CLNDBN	Smith-Lemli-Opitz syndrome
Reversed	1
HGVS	NC_000011.9:g.71146858G>A
CLNSRC
CLNACC	RCV000409015.1,