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rs606231419

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs606231419(C;C)
Make rs606231419(C;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position203871492
GeneCTLA4
is asnp
is mentioned by
dbSNPrs606231419
dbSNP (classic)rs606231419
ClinGenrs606231419
ebirs606231419
HLIrs606231419
Exacrs606231419
Gnomadrs606231419
Varsomers606231419
LitVarrs606231419
Maprs606231419
PheGenIrs606231419
Biobankrs606231419
1000 genomesrs606231419
hgdprs606231419
ensemblrs606231419
geneviewrs606231419
scholarrs606231419
googlers606231419
pharmgkbrs606231419
gwascentralrs606231419
openSNPrs606231419
23andMers606231419
SNPshotrs606231419
SNPdbers606231419
MSV3drs606231419
GWAS Ctlgrs606231419
Max Magnitude0
ClinVar
Risk rs606231419(C;C)
Alt rs606231419(C;C)
Reference Rs606231419(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.204736215G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000148292.2,