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

rs571517554

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs571517554(C;T)
Make rs571517554(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome7
Position2944528
GeneCARD11, LOC101927256
is asnp
is mentioned by
dbSNPrs571517554
ebirs571517554
HLIrs571517554
Exacrs571517554
Varsomers571517554
Maprs571517554
PheGenIrs571517554
hapmaprs571517554
1000 genomesrs571517554
hgdprs571517554
ensemblrs571517554
gopubmedrs571517554
geneviewrs571517554
scholarrs571517554
googlers571517554
pharmgkbrs571517554
gwascentralrs571517554
openSNPrs571517554
23andMers571517554
23andMe allrs571517554
SNP Nexus

SNPshotrs571517554
SNPdbers571517554
MSV3drs571517554
GWAS Ctlgrs571517554
Max Magnitude0
ClinVar
Risk rs571517554(T;T)
Alt rs571517554(T;T)
Reference rs571517554(C;C)
Significance Pathogenic
Disease B-cell expansion with NFKB and T-cell anergy
Variation info
Gene CARD11 LOC101927256
CLNDBN B-cell expansion with NFKB and T-cell anergy
Reversed 0
HGVS NC_000007.13:g.2984162C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000162028.4,