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rs74315491

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs74315491(C;T)
Make rs74315491(T;T)
ReferenceGRCh38 38.1/141
Chromosome22
Position23580127
GeneIGLL1
is asnp
is mentioned by
dbSNPrs74315491
dbSNP (classic)rs74315491
ClinGenrs74315491
ebirs74315491
HLIrs74315491
Exacrs74315491
Gnomadrs74315491
Varsomers74315491
LitVarrs74315491
Maprs74315491
PheGenIrs74315491
Biobankrs74315491
1000 genomesrs74315491
hgdprs74315491
ensemblrs74315491
geneviewrs74315491
scholarrs74315491
googlers74315491
pharmgkbrs74315491
gwascentralrs74315491
openSNPrs74315491
23andMers74315491
SNPshotrs74315491
SNPdbers74315491
MSV3drs74315491
GWAS Ctlgrs74315491
Max Magnitude0
OMIM146770
Desc
Variant0001
Relatedalso
ClinVar
Risk rs74315491(T;T)
Alt rs74315491(T;T)
Reference Rs74315491(C;C)
Significance Pathogenic
Disease Agammaglobulinemia 2
Variation info
Gene IGLL1
CLNDBN Agammaglobulinemia 2, autosomal recessive
Reversed 1
HGVS NC_000022.10:g.23922314G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000015948.29,