rs781687341

Orientation

plus

Stabilized

plus

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

Make rs781687341(C;G)

Make rs781687341(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

11

Position

71435475

Gene

DHCR7

is a	snp
is	mentioned by
dbSNP	rs781687341
dbSNP (classic)	rs781687341
ClinGen	rs781687341
ebi	rs781687341
HLI	rs781687341
Exac	rs781687341
Gnomad	rs781687341
Varsome	rs781687341
LitVar	rs781687341
Map	rs781687341
PheGenI	rs781687341
Biobank	rs781687341
1000 genomes	rs781687341
hgdp	rs781687341
ensembl	rs781687341
geneview	rs781687341
scholar	rs781687341
google	rs781687341
pharmgkb	rs781687341
gwascentral	rs781687341
openSNP	rs781687341
23andMe	rs781687341
SNPshot	rs781687341
SNPdbe	rs781687341
MSV3d	rs781687341
GWAS Ctlg	rs781687341

Max Magnitude

0

ClinVar
Risk	rs781687341(A;A) rs781687341(G;G) rs781687341(T;T)
Alt	rs781687341(A;A) rs781687341(G;G) rs781687341(T;T)
Reference	Rs781687341(C;C)
Significance	Pathogenic
Disease	Smith-Lemli-Opitz syndrome
Variation	info
Gene	DHCR7
CLNDBN	Smith-Lemli-Opitz syndrome
Reversed	0
HGVS	NC_000011.9:g.71146521C>T
CLNSRC
CLNACC	RCV000449623.1,