rs201270451

Orientation

plus

Stabilized

plus

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

Make rs201270451(G;G)

Reference

GRCh38.p2 38.2/147

Chromosome

11

Position

71435419

Gene

DHCR7

is a	snp
is	mentioned by
dbSNP	rs201270451
dbSNP (classic)	rs201270451
ClinGen	rs201270451
ebi	rs201270451
HLI	rs201270451
Exac	rs201270451
Gnomad	rs201270451
Varsome	rs201270451
LitVar	rs201270451
Map	rs201270451
PheGenI	rs201270451
Biobank	rs201270451
1000 genomes	rs201270451
hgdp	rs201270451
ensembl	rs201270451
geneview	rs201270451
scholar	rs201270451
google	rs201270451
pharmgkb	rs201270451
gwascentral	rs201270451
openSNP	rs201270451
23andMe	rs201270451
SNPshot	rs201270451
SNPdbe	rs201270451
MSV3d	rs201270451
GWAS Ctlg	rs201270451

Max Magnitude

3

ClinVar
Risk	rs201270451(G;G)
Alt	rs201270451(G;G)
Reference	Rs201270451(A;A)
Significance	Probable-Pathogenic
Disease	not specified Smith-Lemli-Opitz syndrome
Variation	info
Gene	DHCR7
CLNDBN	not specified Smith-Lemli-Opitz syndrome
Reversed	0
HGVS	NC_000011.9:g.71146465A>G
CLNSRC	HGMD
CLNACC	RCV000079645.4, RCV000411557.1,