rs1057516375

Orientation

minus

Stabilized

minus

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

Make rs1057516375(A;A)

Make rs1057516375(A;C)

Reference

GRCh38.p7 38.3/150

Chromosome

11

Position

71435822

Gene

DHCR7

is a	snp
is	mentioned by
dbSNP	rs1057516375
dbSNP (classic)	rs1057516375
ClinGen	rs1057516375
ebi	rs1057516375
HLI	rs1057516375
Exac	rs1057516375
Gnomad	rs1057516375
Varsome	rs1057516375
LitVar	rs1057516375
Map	rs1057516375
PheGenI	rs1057516375
Biobank	rs1057516375
1000 genomes	rs1057516375
hgdp	rs1057516375
ensembl	rs1057516375
geneview	rs1057516375
scholar	rs1057516375
google	rs1057516375
pharmgkb	rs1057516375
gwascentral	rs1057516375
openSNP	rs1057516375
23andMe	rs1057516375
SNPshot	rs1057516375
SNPdbe	rs1057516375
MSV3d	rs1057516375
GWAS Ctlg	rs1057516375

Max Magnitude

0

ClinVar
Risk	rs1057516375(A;A)
Alt	rs1057516375(A;A)
Reference	Rs1057516375(C;C)
Significance	Probable-Pathogenic
Disease	Smith-Lemli-Opitz syndrome
Variation	info
Gene	DHCR7
CLNDBN	Smith-Lemli-Opitz syndrome
Reversed	1
HGVS	NC_000011.9:g.71146868G>T
CLNSRC
CLNACC	RCV000411396.1,