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rs606231421

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs606231421(G;T)
Make rs606231421(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position203868052
GeneCTLA4
is asnp
is mentioned by
dbSNPrs606231421
dbSNP (classic)rs606231421
ClinGenrs606231421
ebirs606231421
HLIrs606231421
Exacrs606231421
Gnomadrs606231421
Varsomers606231421
LitVarrs606231421
Maprs606231421
PheGenIrs606231421
Biobankrs606231421
1000 genomesrs606231421
hgdprs606231421
ensemblrs606231421
geneviewrs606231421
scholarrs606231421
googlers606231421
pharmgkbrs606231421
gwascentralrs606231421
openSNPrs606231421
23andMers606231421
SNPshotrs606231421
SNPdbers606231421
MSV3drs606231421
GWAS Ctlgrs606231421
Max Magnitude0
ClinVar
Risk rs606231421(T;T)
Alt rs606231421(T;T)
Reference Rs606231421(G;G)
Significance Pathogenic
Disease Autoimmune lymphoproliferatiVe syndrome
Variation info
Gene CTLA4
CLNDBN Autoimmune lymphoproliferatiVe syndrome, type V
Reversed 0
HGVS NC_000002.11:g.204732775G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000148294.3,