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rs17860403

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs17860403(C;T)
Make rs17860403(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position201208114
GeneCASP10
is asnp
is mentioned by
dbSNPrs17860403
ebirs17860403
HLIrs17860403
Exacrs17860403
Varsomers17860403
Maprs17860403
PheGenIrs17860403
hapmaprs17860403
1000 genomesrs17860403
hgdprs17860403
ensemblrs17860403
gopubmedrs17860403
geneviewrs17860403
scholarrs17860403
googlers17860403
pharmgkbrs17860403
gwascentralrs17860403
openSNPrs17860403
23andMers17860403
23andMe allrs17860403
SNP Nexus

SNPshotrs17860403
SNPdbers17860403
MSV3drs17860403
GWAS Ctlgrs17860403
Max Magnitude0
OMIM601762
DescAUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA
Variant0001
Relatedalso


ClinVar
Risk rs17860403(T;T)
Alt rs17860403(T;T)
Reference rs17860403(C;C)
Significance Pathogenic
Disease Autoimmune lymphoproliferative syndrome
Variation info
Gene CASP10
CLNDBN Autoimmune lymphoproliferative syndrome, type 2
Reversed 0
HGVS NC_000002.11:g.202072837C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008205.1,



[PMID 10412980] Inherited human Caspase 10 mutations underlie defective lymphocyte and dendritic cell apoptosis in autoimmune lymphoproliferative syndrome type II.