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

rs199422117

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199422117(A;A)
Make rs199422117(A;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position140015731
GeneTBXAS1
is asnp
is mentioned by
dbSNPrs199422117
ebirs199422117
HLIrs199422117
Exacrs199422117
Varsomers199422117
Maprs199422117
PheGenIrs199422117
hapmaprs199422117
1000 genomesrs199422117
hgdprs199422117
ensemblrs199422117
gopubmedrs199422117
geneviewrs199422117
scholarrs199422117
googlers199422117
pharmgkbrs199422117
gwascentralrs199422117
openSNPrs199422117
23andMers199422117
23andMe allrs199422117
SNP Nexus

SNPshotrs199422117
SNPdbers199422117
MSV3drs199422117
GWAS Ctlgrs199422117
Max Magnitude0
ClinVar
Risk rs199422117(A;A)
Alt rs199422117(A;A)
Reference rs199422117(G;G)
Significance Pathogenic
Disease Ghosal hematodiaphyseal syndrome
Variation info
Gene TBXAS1
CLNDBN Ghosal hematodiaphyseal syndrome
Reversed 0
HGVS NC_000007.13:g.139715531G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000012664.24,