rs121909768

Orientation

minus

Stabilized

minus

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

Make rs121909768(A;A)

Reference

GRCh38 38.1/141

Chromosome

11

Position

71435748

Gene

DHCR7

is a	snp
is	mentioned by
dbSNP	rs121909768
dbSNP (classic)	rs121909768
ClinGen	rs121909768
ebi	rs121909768
HLI	rs121909768
Exac	rs121909768
Gnomad	rs121909768
Varsome	rs121909768
LitVar	rs121909768
Map	rs121909768
PheGenI	rs121909768
Biobank	rs121909768
1000 genomes	rs121909768
hgdp	rs121909768
ensembl	rs121909768
geneview	rs121909768
scholar	rs121909768
google	rs121909768
pharmgkb	rs121909768
gwascentral	rs121909768
openSNP	rs121909768
23andMe	rs121909768
SNPshot	rs121909768
SNPdbe	rs121909768
MSV3d	rs121909768
GWAS Ctlg	rs121909768

Max Magnitude

3

OMIM	602858
Desc
Variant	0021
Related	also

ClinVar
Risk	rs121909768(A;A) rs121909768(T;T)
Alt	rs121909768(A;A) rs121909768(T;T)
Reference	Rs121909768(G;G)
Significance	Pathogenic
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.71146794C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000007197.4, RCV000254828.1,