rs1057516977

Orientation

minus

Stabilized

minus

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

Make rs1057516977(C;T)

Make rs1057516977(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

11

Position

71444937

Gene

DHCR7

is a	snp
is	mentioned by
dbSNP	rs1057516977
dbSNP (classic)	rs1057516977
ClinGen	rs1057516977
ebi	rs1057516977
HLI	rs1057516977
Exac	rs1057516977
Gnomad	rs1057516977
Varsome	rs1057516977
LitVar	rs1057516977
Map	rs1057516977
PheGenI	rs1057516977
Biobank	rs1057516977
1000 genomes	rs1057516977
hgdp	rs1057516977
ensembl	rs1057516977
geneview	rs1057516977
scholar	rs1057516977
google	rs1057516977
pharmgkb	rs1057516977
gwascentral	rs1057516977
openSNP	rs1057516977
23andMe	rs1057516977
SNPshot	rs1057516977
SNPdbe	rs1057516977
MSV3d	rs1057516977
GWAS Ctlg	rs1057516977

Max Magnitude

0

ClinVar
Risk	rs1057516977(T;T)
Alt	rs1057516977(T;T)
Reference	Rs1057516977(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.71155983G>A
CLNSRC
CLNACC	RCV000411661.1,