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rs1064422

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1064422(C;T)
Make rs1064422(T;T)
ReferenceGRCh38 38.1/141
Chromosome22
Position23573483
GeneIGLL1
is asnp
is mentioned by
dbSNPrs1064422
ebirs1064422
HLIrs1064422
Exacrs1064422
Varsomers1064422
Maprs1064422
PheGenIrs1064422
hapmaprs1064422
1000 genomesrs1064422
hgdprs1064422
ensemblrs1064422
gopubmedrs1064422
geneviewrs1064422
scholarrs1064422
googlers1064422
pharmgkbrs1064422
gwascentralrs1064422
openSNPrs1064422
23andMers1064422
23andMe allrs1064422
SNP Nexus

SNPshotrs1064422
SNPdbers1064422
MSV3drs1064422
GWAS Ctlgrs1064422
Max Magnitude0
OMIM146770
DescAGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE
Variant0002
Relatedalso


ClinVar
Risk rs1064422(T;T)
Alt rs1064422(T;T)
Reference rs1064422(C;C)
Significance Pathogenic
Disease Agammaglobulinemia 2
Variation info
Gene IGLL1
CLNDBN Agammaglobulinemia 2, autosomal recessive
Reversed 1
HGVS NC_000022.10:g.23915670G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000015949.29,