rs1057516973

Orientation

minus

Stabilized

minus

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

Make rs1057516973(G;T)

Make rs1057516973(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

11

Position

71437811

Gene

DHCR7

is a	snp
is	mentioned by
dbSNP	rs1057516973
dbSNP (classic)	rs1057516973
ClinGen	rs1057516973
ebi	rs1057516973
HLI	rs1057516973
Exac	rs1057516973
Gnomad	rs1057516973
Varsome	rs1057516973
LitVar	rs1057516973
Map	rs1057516973
PheGenI	rs1057516973
Biobank	rs1057516973
1000 genomes	rs1057516973
hgdp	rs1057516973
ensembl	rs1057516973
geneview	rs1057516973
scholar	rs1057516973
google	rs1057516973
pharmgkb	rs1057516973
gwascentral	rs1057516973
openSNP	rs1057516973
23andMe	rs1057516973
SNPshot	rs1057516973
SNPdbe	rs1057516973
MSV3d	rs1057516973
GWAS Ctlg	rs1057516973

Max Magnitude

0

ClinVar
Risk	rs1057516973(T;T)
Alt	rs1057516973(T;T)
Reference	Rs1057516973(G;G)
Significance	Probable-Pathogenic
Disease	Smith-Lemli-Opitz syndrome
Variation	info
Gene	DHCR7
CLNDBN	Smith-Lemli-Opitz syndrome
Reversed	1
HGVS	NC_000011.9:g.71148857C>A
CLNSRC
CLNACC	RCV000411265.1,