rs1057517307

Orientation

minus

Stabilized

minus

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

Make rs1057517307(A;A)

Make rs1057517307(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

11

Position

71441441

Gene

DHCR7

is a	snp
is	mentioned by
dbSNP	rs1057517307
dbSNP (classic)	rs1057517307
ClinGen	rs1057517307
ebi	rs1057517307
HLI	rs1057517307
Exac	rs1057517307
Gnomad	rs1057517307
Varsome	rs1057517307
LitVar	rs1057517307
Map	rs1057517307
PheGenI	rs1057517307
Biobank	rs1057517307
1000 genomes	rs1057517307
hgdp	rs1057517307
ensembl	rs1057517307
geneview	rs1057517307
scholar	rs1057517307
google	rs1057517307
pharmgkb	rs1057517307
gwascentral	rs1057517307
openSNP	rs1057517307
23andMe	rs1057517307
SNPshot	rs1057517307
SNPdbe	rs1057517307
MSV3d	rs1057517307
GWAS Ctlg	rs1057517307

Max Magnitude

0

ClinVar
Risk	rs1057517307(A;A)
Alt	rs1057517307(A;A)
Reference	Rs1057517307(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.71152487C>T
CLNSRC
CLNACC	RCV000409542.1,