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rs104886039

From SNPedia

Orientationminus
Stabilizedminus
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)
ReferenceGRCh38 38.1/142
Chromosome11
Position71444022
GeneDHCR7
is asnp
is mentioned by
dbSNPrs104886039
dbSNP (old)rs104886039
ClinGenrs104886039
ebirs104886039
HLIrs104886039
Exacrs104886039
Varsomers104886039
Maprs104886039
PheGenIrs104886039
Biobankrs104886039
1000 genomesrs104886039
hgdprs104886039
ensemblrs104886039
gopubmedrs104886039
geneviewrs104886039
scholarrs104886039
googlers104886039
pharmgkbrs104886039
gwascentralrs104886039
openSNPrs104886039
23andMers104886039
23andMe allrs104886039
SNP Nexus

SNPshotrs104886039
SNPdbers104886039
MSV3drs104886039
GWAS Ctlgrs104886039
Max Magnitude3
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 15805162OA-icon.png] DHCR7 nonsense mutations and characterisation of mRNA nonsense mediated decay in Smith-Lemli-Opitz syndrome.