rs1057516618

Orientation

minus

Stabilized

minus

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

Make rs1057516618(-;-)

Make rs1057516618(-;T)

Reference

GRCh38.p7 38.3/150

Chromosome

11

Position

71435808

Gene

DHCR7

is a	snp
is	mentioned by
dbSNP	rs1057516618
dbSNP (classic)	rs1057516618
ClinGen	rs1057516618
ebi	rs1057516618
HLI	rs1057516618
Exac	rs1057516618
Gnomad	rs1057516618
Varsome	rs1057516618
LitVar	rs1057516618
Map	rs1057516618
PheGenI	rs1057516618
Biobank	rs1057516618
1000 genomes	rs1057516618
hgdp	rs1057516618
ensembl	rs1057516618
geneview	rs1057516618
scholar	rs1057516618
google	rs1057516618
pharmgkb	rs1057516618
gwascentral	rs1057516618
openSNP	rs1057516618
23andMe	rs1057516618
SNPshot	rs1057516618
SNPdbe	rs1057516618
MSV3d	rs1057516618
GWAS Ctlg	rs1057516618

Max Magnitude

0

ClinVar
Risk	rs1057516618(-;-)
Alt	rs1057516618(-;-)
Reference	Rs1057516618(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.71146854delA
CLNSRC
CLNACC	RCV000411723.1,