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rs886041044

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Chromosome16
Position67647603
GeneCARMIL2
is asnp
is mentioned by
dbSNPrs886041044
dbSNP (classic)rs886041044
ClinGenrs886041044
ebirs886041044
HLIrs886041044
Exacrs886041044
Gnomadrs886041044
Varsomers886041044
LitVarrs886041044
Maprs886041044
PheGenIrs886041044
Biobankrs886041044
1000 genomesrs886041044
hgdprs886041044
ensemblrs886041044
geneviewrs886041044
scholarrs886041044
googlers886041044
pharmgkbrs886041044
gwascentralrs886041044
openSNPrs886041044
23andMers886041044
SNPshotrs886041044
SNPdbers886041044
MSV3drs886041044
GWAS Ctlgrs886041044
Max Magnitude0
ClinVar
Risk rs886041044(T;T)
Alt rs886041044(T;T)
Reference Rs886041044(G;G)
Significance Pathogenic
Disease Combined T and B cell immunodeficiency
Variation info
Gene CARMIL2 RLTPR
CLNDBN Combined T and B cell immunodeficiency
Reversed 0
HGVS NC_000016.9:g.67681506G>T
CLNSRC
CLNACC RCV000258853.1,