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rs587776686

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(GA;GA) 0 common in clinvar
Make rs587776686(-;-)
Make rs587776686(-;C)
ReferenceGRCh38 38.1/142
Chromosome16
Position1792315
GeneIGFALS
is asnp
is mentioned by
dbSNPrs587776686
ebirs587776686
HLIrs587776686
Exacrs587776686
Varsomers587776686
Maprs587776686
PheGenIrs587776686
hapmaprs587776686
1000 genomesrs587776686
hgdprs587776686
ensemblrs587776686
gopubmedrs587776686
geneviewrs587776686
scholarrs587776686
googlers587776686
pharmgkbrs587776686
gwascentralrs587776686
openSNPrs587776686
23andMers587776686
23andMe allrs587776686
SNP Nexus

SNPshotrs587776686
SNPdbers587776686
MSV3drs587776686
GWAS Ctlgrs587776686
Max Magnitude0
ClinVar
Risk rs587776686(CA,A;CA,A)
Alt rs587776686(CA,A;CA,A)
Reference rs587776686(GA;GA)
Significance Pathogenic
Disease Acid-labile subunit deficiency
Variation info
Gene IGFALS
CLNDBN Acid-labile subunit deficiency
Reversed 1
HGVS NC_000016.9:g.1842316delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000008600.4,