rs121909767

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 rs121909767(A;A)

Reference

GRCh38 38.1/141

Chromosome

11

Position

71444950

Gene

DHCR7

is a	snp
is	mentioned by
dbSNP	rs121909767
dbSNP (classic)	rs121909767
ClinGen	rs121909767
ebi	rs121909767
HLI	rs121909767
Exac	rs121909767
Gnomad	rs121909767
Varsome	rs121909767
LitVar	rs121909767
Map	rs121909767
PheGenI	rs121909767
Biobank	rs121909767
1000 genomes	rs121909767
hgdp	rs121909767
ensembl	rs121909767
geneview	rs121909767
scholar	rs121909767
google	rs121909767
pharmgkb	rs121909767
gwascentral	rs121909767
openSNP	rs121909767
23andMe	rs121909767
SNPshot	rs121909767
SNPdbe	rs121909767
MSV3d	rs121909767
GWAS Ctlg	rs121909767

Max Magnitude

3

OMIM	602858
Desc
Variant	0017
Related	also

ClinVar
Risk	rs121909767(A;A)
Alt	rs121909767(A;A)
Reference	Rs121909767(G;G)
Significance	Other
Disease	Smith-Lemli-Opitz syndrome
Variation	info
Gene	DHCR7
CLNDBN	Smith-Lemli-Opitz syndrome
Reversed	1
HGVS	NC_000011.9:g.71155996C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000169218.2,