rs1057516493

Orientation

minus

Stabilized

minus

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

Make rs1057516493(A;A)

Make rs1057516493(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

11

Position

71435604

Gene

DHCR7

is a	snp
is	mentioned by
dbSNP	rs1057516493
dbSNP (classic)	rs1057516493
ClinGen	rs1057516493
ebi	rs1057516493
HLI	rs1057516493
Exac	rs1057516493
Gnomad	rs1057516493
Varsome	rs1057516493
LitVar	rs1057516493
Map	rs1057516493
PheGenI	rs1057516493
Biobank	rs1057516493
1000 genomes	rs1057516493
hgdp	rs1057516493
ensembl	rs1057516493
geneview	rs1057516493
scholar	rs1057516493
google	rs1057516493
pharmgkb	rs1057516493
gwascentral	rs1057516493
openSNP	rs1057516493
23andMe	rs1057516493
SNPshot	rs1057516493
SNPdbe	rs1057516493
MSV3d	rs1057516493
GWAS Ctlg	rs1057516493

Max Magnitude

0

ClinVar
Risk	rs1057516493(A;A)
Alt	rs1057516493(A;A)
Reference	Rs1057516493(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.71146650C>T
CLNSRC
CLNACC	RCV000411064.1,