rs104886039

Orientation

minus

Stabilized

minus

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

Make rs104886039(T;T)

Reference

GRCh38 38.1/142

Chromosome

11

Position

71444022

Gene

DHCR7

is a	snp
is	mentioned by
dbSNP	rs104886039
dbSNP (classic)	rs104886039
ClinGen	rs104886039
ebi	rs104886039
HLI	rs104886039
Exac	rs104886039
Gnomad	rs104886039
Varsome	rs104886039
LitVar	rs104886039
Map	rs104886039
PheGenI	rs104886039
Biobank	rs104886039
1000 genomes	rs104886039
hgdp	rs104886039
ensembl	rs104886039
geneview	rs104886039
scholar	rs104886039
google	rs104886039
pharmgkb	rs104886039
gwascentral	rs104886039
openSNP	rs104886039
23andMe	rs104886039
SNPshot	rs104886039
SNPdbe	rs104886039
MSV3d	rs104886039
GWAS Ctlg	rs104886039

Max Magnitude

3

ClinVar
Risk	rs104886039(T;T)
Alt	rs104886039(T;T)
Reference	Rs104886039(C;C)
Significance	Pathogenic
Disease	Smith-Lemli-Opitz syndrome not provided
Variation	info
Gene	DHCR7
CLNDBN	Smith-Lemli-Opitz syndrome not provided
Reversed	1
HGVS	NC_000011.9:g.71155068G>A
CLNSRC
CLNACC	RCV000169020.1, RCV000489856.1,

[PMID 15805162] DHCR7 nonsense mutations and characterisation of mRNA nonsense mediated decay in Smith-Lemli-Opitz syndrome.