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

rs786205859

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs786205859(A;A)
Make rs786205859(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome3
Position177051722
GeneTBL1XR1
is asnp
is mentioned by
dbSNPrs786205859
ebirs786205859
HLIrs786205859
Exacrs786205859
Varsomers786205859
Maprs786205859
PheGenIrs786205859
hapmaprs786205859
1000 genomesrs786205859
hgdprs786205859
ensemblrs786205859
gopubmedrs786205859
geneviewrs786205859
scholarrs786205859
googlers786205859
pharmgkbrs786205859
gwascentralrs786205859
openSNPrs786205859
23andMers786205859
23andMe allrs786205859
SNP Nexus

SNPshotrs786205859
SNPdbers786205859
MSV3drs786205859
GWAS Ctlgrs786205859
Max Magnitude0
ClinVar
Risk rs786205859(A;A)
Alt rs786205859(A;A)
Reference rs786205859(G;G)
Significance Pathogenic
Disease Fitzsimmons-Guilbert syndrome
Variation info
Gene TBL1XR1
CLNDBN Fitzsimmons-Guilbert syndrome
Reversed 1
HGVS NC_000003.11:g.176769510C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000171553.2,