rs104894213

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 rs104894213(A;A)

Reference

GRCh38 38.1/141

Chromosome

11

Position

71441400

Gene

DHCR7

is a	snp
is	mentioned by
dbSNP	rs104894213
dbSNP (classic)	rs104894213
ClinGen	rs104894213
ebi	rs104894213
HLI	rs104894213
Exac	rs104894213
Gnomad	rs104894213
Varsome	rs104894213
LitVar	rs104894213
Map	rs104894213
PheGenI	rs104894213
Biobank	rs104894213
1000 genomes	rs104894213
hgdp	rs104894213
ensembl	rs104894213
geneview	rs104894213
scholar	rs104894213
google	rs104894213
pharmgkb	rs104894213
gwascentral	rs104894213
openSNP	rs104894213
23andMe	rs104894213
SNPshot	rs104894213
SNPdbe	rs104894213
MSV3d	rs104894213
GWAS Ctlg	rs104894213

Max Magnitude

3

OMIM	602858
Desc
Variant	0010
Related	also

ClinVar
Risk	rs104894213(A;A)
Alt	rs104894213(A;A)
Reference	Rs104894213(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.71152446C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000007186.3,