Have questions? Visit https://www.reddit.com/r/SNPedia

rs121909247

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121909247(C;C)
Make rs121909247(C;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position1790800
GeneIGFALS
is asnp
is mentioned by
dbSNPrs121909247
ebirs121909247
HLIrs121909247
Exacrs121909247
Varsomers121909247
Maprs121909247
PheGenIrs121909247
hapmaprs121909247
1000 genomesrs121909247
hgdprs121909247
ensemblrs121909247
gopubmedrs121909247
geneviewrs121909247
scholarrs121909247
googlers121909247
pharmgkbrs121909247
gwascentralrs121909247
openSNPrs121909247
23andMers121909247
23andMe allrs121909247
SNP Nexus

SNPshotrs121909247
SNPdbers121909247
MSV3drs121909247
GWAS Ctlgrs121909247
Max Magnitude0
OMIM601489
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121909247(C;C)
Alt rs121909247(C;C)
Reference rs121909247(T;T)
Significance Pathogenic
Disease Acid-labile subunit deficiency
Variation info
Gene IGFALS
CLNDBN Acid-labile subunit deficiency
Reversed 1
HGVS NC_000016.9:g.1840801A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000008601.4,