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rs878854401

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs878854401(A;G)
Make rs878854401(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome3
Position177047518
GeneTBL1XR1
is asnp
is mentioned by
dbSNPrs878854401
ebirs878854401
HLIrs878854401
Exacrs878854401
Varsomers878854401
Maprs878854401
PheGenIrs878854401
hapmaprs878854401
1000 genomesrs878854401
hgdprs878854401
ensemblrs878854401
gopubmedrs878854401
geneviewrs878854401
scholarrs878854401
googlers878854401
pharmgkbrs878854401
gwascentralrs878854401
openSNPrs878854401
23andMers878854401
23andMe allrs878854401
SNP Nexus

SNPshotrs878854401
SNPdbers878854401
MSV3drs878854401
GWAS Ctlgrs878854401
Max Magnitude0
ClinVar
Risk rs878854401(G;G)
Alt rs878854401(G;G)
Reference rs878854401(A;A)
Significance Pathogenic
Disease Fitzsimmons-Guilbert syndrome
Variation info
Gene TBL1XR1
CLNDBN Fitzsimmons-Guilbert syndrome
Reversed 1
HGVS NC_000003.11:g.176765306T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000211092.1,