rs104894212

Orientation

minus

Stabilized

minus

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

Make rs104894212(T;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

71438966

Gene

DHCR7

is a	snp
is	mentioned by
dbSNP	rs104894212
dbSNP (classic)	rs104894212
ClinGen	rs104894212
ebi	rs104894212
HLI	rs104894212
Exac	rs104894212
Gnomad	rs104894212
Varsome	rs104894212
LitVar	rs104894212
Map	rs104894212
PheGenI	rs104894212
Biobank	rs104894212
1000 genomes	rs104894212
hgdp	rs104894212
ensembl	rs104894212
geneview	rs104894212
scholar	rs104894212
google	rs104894212
pharmgkb	rs104894212
gwascentral	rs104894212
openSNP	rs104894212
23andMe	rs104894212
SNPshot	rs104894212
SNPdbe	rs104894212
MSV3d	rs104894212
GWAS Ctlg	rs104894212

Merged from

Rs28939698

Max Magnitude

3

OMIM	602858
Desc
Variant	0008
Related	also

ClinVar
Risk	rs104894212(T;T)
Alt	rs104894212(T;T)
Reference	Rs104894212(G;G)
Significance	Pathogenic
Disease	Smith-Lemli-Opitz syndrome
Variation	info
Gene	DHCR7
CLNDBN	Smith-Lemli-Opitz syndrome
Reversed	1
HGVS	NC_000011.9:g.71150012C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000007184.5,