rs1057517210

Orientation

minus

Stabilized

minus

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

Make rs1057517210(A;A)

Make rs1057517210(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

11

Position

71439084

Gene

DHCR7

is a	snp
is	mentioned by
dbSNP	rs1057517210
dbSNP (classic)	rs1057517210
ClinGen	rs1057517210
ebi	rs1057517210
HLI	rs1057517210
Exac	rs1057517210
Gnomad	rs1057517210
Varsome	rs1057517210
LitVar	rs1057517210
Map	rs1057517210
PheGenI	rs1057517210
Biobank	rs1057517210
1000 genomes	rs1057517210
hgdp	rs1057517210
ensembl	rs1057517210
geneview	rs1057517210
scholar	rs1057517210
google	rs1057517210
pharmgkb	rs1057517210
gwascentral	rs1057517210
openSNP	rs1057517210
23andMe	rs1057517210
SNPshot	rs1057517210
SNPdbe	rs1057517210
MSV3d	rs1057517210
GWAS Ctlg	rs1057517210

Max Magnitude

0

ClinVar
Risk	rs1057517210(A;A)
Alt	rs1057517210(A;A)
Reference	Rs1057517210(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.71150130C>T
CLNSRC
CLNACC	RCV000411331.1,