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rs606231417

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs606231417(C;T)
Make rs606231417(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position203870627
GeneCTLA4
is asnp
is mentioned by
dbSNPrs606231417
dbSNP (classic)rs606231417
ClinGenrs606231417
ebirs606231417
HLIrs606231417
Exacrs606231417
Gnomadrs606231417
Varsomers606231417
LitVarrs606231417
Maprs606231417
PheGenIrs606231417
Biobankrs606231417
1000 genomesrs606231417
hgdprs606231417
ensemblrs606231417
geneviewrs606231417
scholarrs606231417
googlers606231417
pharmgkbrs606231417
gwascentralrs606231417
openSNPrs606231417
23andMers606231417
SNPshotrs606231417
SNPdbers606231417
MSV3drs606231417
GWAS Ctlgrs606231417
Max Magnitude0
ClinVar
Risk rs606231417(T;T)
Alt rs606231417(T;T)
Reference Rs606231417(C;C)
Significance Pathogenic
Disease Autoimmune lymphoproliferatiVe syndrome
Variation info
Gene CTLA4
CLNDBN Autoimmune lymphoproliferatiVe syndrome, type V
Reversed 0
HGVS NC_000002.11:g.204735350C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000148290.2,