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rs606231422

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs606231422(C;T)
Make rs606231422(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position203870684
GeneCTLA4
is asnp
is mentioned by
dbSNPrs606231422
dbSNP (classic)rs606231422
ClinGenrs606231422
ebirs606231422
HLIrs606231422
Exacrs606231422
Gnomadrs606231422
Varsomers606231422
LitVarrs606231422
Maprs606231422
PheGenIrs606231422
Biobankrs606231422
1000 genomesrs606231422
hgdprs606231422
ensemblrs606231422
geneviewrs606231422
scholarrs606231422
googlers606231422
pharmgkbrs606231422
gwascentralrs606231422
openSNPrs606231422
23andMers606231422
SNPshotrs606231422
SNPdbers606231422
MSV3drs606231422
GWAS Ctlgrs606231422
Max Magnitude0
ClinVar
Risk rs606231422(T;T)
Alt rs606231422(T;T)
Reference Rs606231422(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.204735407C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000148295.3,