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rs2278619

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs2278619(C;C)
Make rs2278619(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position80109927
GeneGAA
is asnp
is mentioned by
dbSNPrs2278619
ebirs2278619
HLIrs2278619
Exacrs2278619
Varsomers2278619
Maprs2278619
PheGenIrs2278619
hapmaprs2278619
1000 genomesrs2278619
hgdprs2278619
ensemblrs2278619
gopubmedrs2278619
geneviewrs2278619
scholarrs2278619
googlers2278619
pharmgkbrs2278619
gwascentralrs2278619
openSNPrs2278619
23andMers2278619
23andMe allrs2278619
SNP Nexus

SNPshotrs2278619
SNPdbers2278619
MSV3drs2278619
GWAS Ctlgrs2278619
Max Magnitude0
? (C;C) (C;T) (T;T) 28
ClinVar
Risk rs2278619(C;C)
Alt rs2278619(C;C)
Reference rs2278619(T;T)
Significance Probable-Pathogenic
Disease not specified not provided
Variation info
Gene GAA
CLNDBN not specified not provided
Reversed 1
HGVS NC_000017.10:g.78083726A>G
CLNSRC
CLNACC RCV000078156.4, RCV000171487.1,