rs779709646

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	3	Unaffected carrier of a Smith-Lemli-Opitz syndrome mutation
(T;T)	9	Smith-Lemli-Opitz syndrome

Make rs779709646(A;A)

Make rs779709646(A;C)

Reference

GRCh38.p2 38.2/144

Chromosome

11

Position

71435664

Gene

DHCR7

is a	snp
is	mentioned by
dbSNP	rs779709646
dbSNP (classic)	rs779709646
ClinGen	rs779709646
ebi	rs779709646
HLI	rs779709646
Exac	rs779709646
Gnomad	rs779709646
Varsome	rs779709646
LitVar	rs779709646
Map	rs779709646
PheGenI	rs779709646
Biobank	rs779709646
1000 genomes	rs779709646
hgdp	rs779709646
ensembl	rs779709646
geneview	rs779709646
scholar	rs779709646
google	rs779709646
pharmgkb	rs779709646
gwascentral	rs779709646
openSNP	rs779709646
23andMe	rs779709646
SNPshot	rs779709646
SNPdbe	rs779709646
MSV3d	rs779709646
GWAS Ctlg	rs779709646

Max Magnitude

9

c.1139G>A (p.Cys380Tyr)

23andMe calls this i5012826

ClinVar
Risk	rs779709646(A;A) Rs779709646(T;T)
Alt	rs779709646(A;A) Rs779709646(T;T)
Reference	Rs779709646(C;C)
Significance	Probable-Pathogenic
Disease	Smith-Lemli-Opitz syndrome
Variation	info
Gene	DHCR7
CLNDBN	Smith-Lemli-Opitz syndrome
Reversed	0
HGVS	NC_000011.9:g.71146710C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000169472.1,