rs1057516783

Orientation

minus

Stabilized

minus

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

Make rs1057516783(-;-)

Make rs1057516783(-;T)

Reference

GRCh38.p7 38.3/150

Chromosome

11

Position

71438906

Gene

DHCR7

is a	snp
is	mentioned by
dbSNP	rs1057516783
dbSNP (classic)	rs1057516783
ClinGen	rs1057516783
ebi	rs1057516783
HLI	rs1057516783
Exac	rs1057516783
Gnomad	rs1057516783
Varsome	rs1057516783
LitVar	rs1057516783
Map	rs1057516783
PheGenI	rs1057516783
Biobank	rs1057516783
1000 genomes	rs1057516783
hgdp	rs1057516783
ensembl	rs1057516783
geneview	rs1057516783
scholar	rs1057516783
google	rs1057516783
pharmgkb	rs1057516783
gwascentral	rs1057516783
openSNP	rs1057516783
23andMe	rs1057516783
SNPshot	rs1057516783
SNPdbe	rs1057516783
MSV3d	rs1057516783
GWAS Ctlg	rs1057516783

Max Magnitude

0

ClinVar
Risk	rs1057516783(-;-)
Alt	rs1057516783(-;-)
Reference	Rs1057516783(T;T)
Significance	Probable-Pathogenic
Disease	Smith-Lemli-Opitz syndrome
Variation	info
Gene	DHCR7
CLNDBN	Smith-Lemli-Opitz syndrome
Reversed	1
HGVS	NC_000011.9:g.71149952delA
CLNSRC
CLNACC	RCV000411261.1,