rs1057516920

Orientation

minus

Stabilized

minus

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

Make rs1057516920(A;A)

Make rs1057516920(A;T)

Reference

GRCh38.p7 38.3/150

Chromosome

11

Position

71438877

Gene

DHCR7

is a	snp
is	mentioned by
dbSNP	rs1057516920
dbSNP (classic)	rs1057516920
ClinGen	rs1057516920
ebi	rs1057516920
HLI	rs1057516920
Exac	rs1057516920
Gnomad	rs1057516920
Varsome	rs1057516920
LitVar	rs1057516920
Map	rs1057516920
PheGenI	rs1057516920
Biobank	rs1057516920
1000 genomes	rs1057516920
hgdp	rs1057516920
ensembl	rs1057516920
geneview	rs1057516920
scholar	rs1057516920
google	rs1057516920
pharmgkb	rs1057516920
gwascentral	rs1057516920
openSNP	rs1057516920
23andMe	rs1057516920
SNPshot	rs1057516920
SNPdbe	rs1057516920
MSV3d	rs1057516920
GWAS Ctlg	rs1057516920

Max Magnitude

0

ClinVar
Risk	rs1057516920(A;A)
Alt	rs1057516920(A;A)
Reference	Rs1057516920(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.71149923A>T
CLNSRC
CLNACC	RCV000409593.1,