rs1057516517

Orientation

minus

Stabilized

minus

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

Make rs1057516517(-;-)

Make rs1057516517(-;GT)

Reference

GRCh38.p7 38.3/150

Chromosome

11

Position

71435722

Gene

DHCR7

is a	snp
is	mentioned by
dbSNP	rs1057516517
dbSNP (classic)	rs1057516517
ClinGen	rs1057516517
ebi	rs1057516517
HLI	rs1057516517
Exac	rs1057516517
Gnomad	rs1057516517
Varsome	rs1057516517
LitVar	rs1057516517
Map	rs1057516517
PheGenI	rs1057516517
Biobank	rs1057516517
1000 genomes	rs1057516517
hgdp	rs1057516517
ensembl	rs1057516517
geneview	rs1057516517
scholar	rs1057516517
google	rs1057516517
pharmgkb	rs1057516517
gwascentral	rs1057516517
openSNP	rs1057516517
23andMe	rs1057516517
SNPshot	rs1057516517
SNPdbe	rs1057516517
MSV3d	rs1057516517
GWAS Ctlg	rs1057516517

Max Magnitude

0

ClinVar
Risk	rs1057516517(-;-)
Alt	rs1057516517(-;-)
Reference	Rs1057516517(GT;GT)
Significance	Probable-Pathogenic
Disease	Smith-Lemli-Opitz syndrome
Variation	info
Gene	DHCR7
CLNDBN	Smith-Lemli-Opitz syndrome
Reversed	1
HGVS	NC_000011.9:g.71146768_71146769delAC
CLNSRC
CLNACC	RCV000410733.1,