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

rs140005285

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs140005285(C;C)
Make rs140005285(C;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position139911233
GeneTBXAS1
is asnp
is mentioned by
dbSNPrs140005285
ebirs140005285
HLIrs140005285
Exacrs140005285
Varsomers140005285
Maprs140005285
PheGenIrs140005285
hapmaprs140005285
1000 genomesrs140005285
hgdprs140005285
ensemblrs140005285
gopubmedrs140005285
geneviewrs140005285
scholarrs140005285
googlers140005285
pharmgkbrs140005285
gwascentralrs140005285
openSNPrs140005285
23andMers140005285
23andMe allrs140005285
SNP Nexus

SNPshotrs140005285
SNPdbers140005285
MSV3drs140005285
GWAS Ctlgrs140005285
Max Magnitude0
ClinVar
Risk rs140005285(C;C)
Alt rs140005285(C;C)
Reference rs140005285(T;T)
Significance Pathogenic
Disease Ghosal hematodiaphyseal syndrome not provided
Variation info
Gene TBXAS1
CLNDBN Ghosal hematodiaphyseal syndrome not provided
Reversed 0
HGVS NC_000007.13:g.139611032T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000012662.22, RCV000178142.1,