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rs606231418

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs606231418(-;-)
Make rs606231418(-;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position203868017
GeneCTLA4
is asnp
is mentioned by
dbSNPrs606231418
dbSNP (classic)rs606231418
ClinGenrs606231418
ebirs606231418
HLIrs606231418
Exacrs606231418
Gnomadrs606231418
Varsomers606231418
LitVarrs606231418
Maprs606231418
PheGenIrs606231418
Biobankrs606231418
1000 genomesrs606231418
hgdprs606231418
ensemblrs606231418
geneviewrs606231418
scholarrs606231418
googlers606231418
pharmgkbrs606231418
gwascentralrs606231418
openSNPrs606231418
23andMers606231418
SNPshotrs606231418
SNPdbers606231418
MSV3drs606231418
GWAS Ctlgrs606231418
Max Magnitude0
ClinVar
Risk rs606231418(-;-)
Alt rs606231418(-;-)
Reference Rs606231418(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.204732740delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000148291.2,