rs750345068

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 rs750345068(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

11

Position

71444203

Gene

DHCR7

is a	snp
is	mentioned by
dbSNP	rs750345068
dbSNP (classic)	rs750345068
ClinGen	rs750345068
ebi	rs750345068
HLI	rs750345068
Exac	rs750345068
Gnomad	rs750345068
Varsome	rs750345068
LitVar	rs750345068
Map	rs750345068
PheGenI	rs750345068
Biobank	rs750345068
1000 genomes	rs750345068
hgdp	rs750345068
ensembl	rs750345068
geneview	rs750345068
scholar	rs750345068
google	rs750345068
pharmgkb	rs750345068
gwascentral	rs750345068
openSNP	rs750345068
23andMe	rs750345068
SNPshot	rs750345068
SNPdbe	rs750345068
MSV3d	rs750345068
GWAS Ctlg	rs750345068

Max Magnitude

3

ClinVar
Risk	rs750345068(A;A) rs750345068(T;T)
Alt	rs750345068(A;A) rs750345068(T;T)
Reference	Rs750345068(C;C)
Significance	Probable-Pathogenic
Disease	Smith-Lemli-Opitz syndrome
Variation	info
Gene	DHCR7
CLNDBN	Smith-Lemli-Opitz syndrome
Reversed	0
HGVS	NC_000011.9:g.71155249C>T
CLNSRC
CLNACC	RCV000169596.1,