rs142808899

Orientation

plus

Stabilized

plus

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

Make rs142808899(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

11

Position

71437868

Gene

DHCR7

is a	snp
is	mentioned by
dbSNP	rs142808899
dbSNP (classic)	rs142808899
ClinGen	rs142808899
ebi	rs142808899
HLI	rs142808899
Exac	rs142808899
Gnomad	rs142808899
Varsome	rs142808899
LitVar	rs142808899
Map	rs142808899
PheGenI	rs142808899
Biobank	rs142808899
1000 genomes	rs142808899
hgdp	rs142808899
ensembl	rs142808899
geneview	rs142808899
scholar	rs142808899
google	rs142808899
pharmgkb	rs142808899
gwascentral	rs142808899
openSNP	rs142808899
23andMe	rs142808899
SNPshot	rs142808899
SNPdbe	rs142808899
MSV3d	rs142808899
GWAS Ctlg	rs142808899

Max Magnitude

3

ClinVar
Risk	rs142808899(A;A) rs142808899(T;T)
Alt	rs142808899(A;A) rs142808899(T;T)
Reference	Rs142808899(C;C)
Significance	Other
Disease	Smith-Lemli-Opitz syndrome
Variation	info
Gene	DHCR7
CLNDBN	Smith-Lemli-Opitz syndrome
Reversed	0
HGVS	NC_000011.9:g.71148914C>T
CLNSRC
CLNACC	RCV000180217.1,