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rs606231420

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs606231420(A;A)
Make rs606231420(A;C)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position203868047
GeneCTLA4
is asnp
is mentioned by
dbSNPrs606231420
dbSNP (classic)rs606231420
ClinGenrs606231420
ebirs606231420
HLIrs606231420
Exacrs606231420
Gnomadrs606231420
Varsomers606231420
LitVarrs606231420
Maprs606231420
PheGenIrs606231420
Biobankrs606231420
1000 genomesrs606231420
hgdprs606231420
ensemblrs606231420
geneviewrs606231420
scholarrs606231420
googlers606231420
pharmgkbrs606231420
gwascentralrs606231420
openSNPrs606231420
23andMers606231420
SNPshotrs606231420
SNPdbers606231420
MSV3drs606231420
GWAS Ctlgrs606231420
Max Magnitude0
ClinVar
Risk rs606231420(A;A)
Alt rs606231420(A;A)
Reference Rs606231420(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.204732770C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000148293.2,