rs121909765

Orientation

minus

Stabilized

minus

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

Make rs121909765(T;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

71437909

Gene

DHCR7

is a	snp
is	mentioned by
dbSNP	rs121909765
dbSNP (classic)	rs121909765
ClinGen	rs121909765
ebi	rs121909765
HLI	rs121909765
Exac	rs121909765
Gnomad	rs121909765
Varsome	rs121909765
LitVar	rs121909765
Map	rs121909765
PheGenI	rs121909765
Biobank	rs121909765
1000 genomes	rs121909765
hgdp	rs121909765
ensembl	rs121909765
geneview	rs121909765
scholar	rs121909765
google	rs121909765
pharmgkb	rs121909765
gwascentral	rs121909765
openSNP	rs121909765
23andMe	rs121909765
SNPshot	rs121909765
SNPdbe	rs121909765
MSV3d	rs121909765
GWAS Ctlg	rs121909765

Max Magnitude

3

OMIM	602858
Desc
Variant	0015
Related	also

ClinVar
Risk	rs121909765(T;T)
Alt	rs121909765(T;T)
Reference	Rs121909765(C;C)
Significance	Other
Disease	Smith-Lemli-Opitz syndrome not provided
Variation	info
Gene	DHCR7
CLNDBN	Smith-Lemli-Opitz syndrome not provided
Reversed	1
HGVS	NC_000011.9:g.71148955G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000007191.3, RCV000412788.1,