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rs886041043

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Chromosome16
Position67646737
GeneCARMIL2
is asnp
is mentioned by
dbSNPrs886041043
dbSNP (classic)rs886041043
ClinGenrs886041043
ebirs886041043
HLIrs886041043
Exacrs886041043
Gnomadrs886041043
Varsomers886041043
LitVarrs886041043
Maprs886041043
PheGenIrs886041043
Biobankrs886041043
1000 genomesrs886041043
hgdprs886041043
ensemblrs886041043
geneviewrs886041043
scholarrs886041043
googlers886041043
pharmgkbrs886041043
gwascentralrs886041043
openSNPrs886041043
23andMers886041043
SNPshotrs886041043
SNPdbers886041043
MSV3drs886041043
GWAS Ctlgrs886041043
Max Magnitude0
ClinVar
Risk rs886041043(G;G)
Alt rs886041043(G;G)
Reference Rs886041043(-;-)
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.67680640dupG
CLNSRC
CLNACC RCV000258850.1,