Have questions? Visit https://www.reddit.com/r/SNPedia

rs17860424

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs17860424(C;T)
Make rs17860424(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position201276908
GeneCASP8
is asnp
is mentioned by
dbSNPrs17860424
ebirs17860424
HLIrs17860424
Exacrs17860424
Varsomers17860424
Maprs17860424
PheGenIrs17860424
hapmaprs17860424
1000 genomesrs17860424
hgdprs17860424
ensemblrs17860424
gopubmedrs17860424
geneviewrs17860424
scholarrs17860424
googlers17860424
pharmgkbrs17860424
gwascentralrs17860424
openSNPrs17860424
23andMers17860424
23andMe allrs17860424
SNP Nexus

SNPshotrs17860424
SNPdbers17860424
MSV3drs17860424
GWAS Ctlgrs17860424
Max Magnitude0
OMIM601763
DescCASPASE 8 DEFICIENCY
Variant0001
Relatedalso
Neighborrs1045485
Distance7958


ClinVar
Risk rs17860424(T;T)
Alt rs17860424(T;T)
Reference rs17860424(C;C)
Significance Pathogenic
Disease Caspase-8 deficiency
Variation info
Gene CASP8
CLNDBN Caspase-8 deficiency
Reversed 0
HGVS NC_000002.11:g.202141631C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008201.3,