rs1057517070

Orientation

minus

Stabilized

minus

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

Make rs1057517070(G;G)

Make rs1057517070(G;T)

Reference

GRCh38.p7 38.3/150

Chromosome

11

Position

71437810

Gene

DHCR7

is a	snp
is	mentioned by
dbSNP	rs1057517070
dbSNP (classic)	rs1057517070
ClinGen	rs1057517070
ebi	rs1057517070
HLI	rs1057517070
Exac	rs1057517070
Gnomad	rs1057517070
Varsome	rs1057517070
LitVar	rs1057517070
Map	rs1057517070
PheGenI	rs1057517070
Biobank	rs1057517070
1000 genomes	rs1057517070
hgdp	rs1057517070
ensembl	rs1057517070
geneview	rs1057517070
scholar	rs1057517070
google	rs1057517070
pharmgkb	rs1057517070
gwascentral	rs1057517070
openSNP	rs1057517070
23andMe	rs1057517070
SNPshot	rs1057517070
SNPdbe	rs1057517070
MSV3d	rs1057517070
GWAS Ctlg	rs1057517070

Max Magnitude

0

ClinVar
Risk	rs1057517070(G;G)
Alt	rs1057517070(G;G)
Reference	Rs1057517070(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.71148856A>C
CLNSRC
CLNACC	RCV000410293.1,