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rs199422114

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199422114(C;C)
Make rs199422114(C;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position140017766
GeneTBXAS1
is asnp
is mentioned by
dbSNPrs199422114
ebirs199422114
HLIrs199422114
Exacrs199422114
Varsomers199422114
Maprs199422114
PheGenIrs199422114
hapmaprs199422114
1000 genomesrs199422114
hgdprs199422114
ensemblrs199422114
gopubmedrs199422114
geneviewrs199422114
scholarrs199422114
googlers199422114
pharmgkbrs199422114
gwascentralrs199422114
openSNPrs199422114
23andMers199422114
23andMe allrs199422114
SNP Nexus

SNPshotrs199422114
SNPdbers199422114
MSV3drs199422114
GWAS Ctlgrs199422114
Max Magnitude0
ClinVar
Risk rs199422114(C;C)
Alt rs199422114(C;C)
Reference rs199422114(T;T)
Significance Pathogenic
Disease Ghosal hematodiaphyseal syndrome
Variation info
Gene TBXAS1
CLNDBN Ghosal hematodiaphyseal syndrome
Reversed 0
HGVS NC_000007.13:g.139717566T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000012661.24,