rs775034584

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	0	common in clinvar
(A;G)	3	Unaffected carrier of a Smith-Lemli-Opitz syndrome mutation

Make rs775034584(G;G)

Reference

GRCh38.p2 38.2/144

Chromosome

11

Position

71435377

Gene

DHCR7

is a	snp
is	mentioned by
dbSNP	rs775034584
dbSNP (classic)	rs775034584
ClinGen	rs775034584
ebi	rs775034584
HLI	rs775034584
Exac	rs775034584
Gnomad	rs775034584
Varsome	rs775034584
LitVar	rs775034584
Map	rs775034584
PheGenI	rs775034584
Biobank	rs775034584
1000 genomes	rs775034584
hgdp	rs775034584
ensembl	rs775034584
geneview	rs775034584
scholar	rs775034584
google	rs775034584
pharmgkb	rs775034584
gwascentral	rs775034584
openSNP	rs775034584
23andMe	rs775034584
SNPshot	rs775034584
SNPdbe	rs775034584
MSV3d	rs775034584
GWAS Ctlg	rs775034584

Max Magnitude

3

ClinVar
Risk	rs775034584(G;G)
Alt	rs775034584(G;G)
Reference	Rs775034584(A;A)
Significance	Probable-Pathogenic
Disease	Smith-Lemli-Opitz syndrome
Variation	info
Gene	DHCR7
CLNDBN	Smith-Lemli-Opitz syndrome
Reversed	0
HGVS	NC_000011.9:g.71146423A>G
CLNSRC
CLNACC	RCV000169316.1,