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rs199422116

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199422116(A;A)
Make rs199422116(A;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position140017747
GeneTBXAS1
is asnp
is mentioned by
dbSNPrs199422116
ebirs199422116
HLIrs199422116
Exacrs199422116
Varsomers199422116
Maprs199422116
PheGenIrs199422116
hapmaprs199422116
1000 genomesrs199422116
hgdprs199422116
ensemblrs199422116
gopubmedrs199422116
geneviewrs199422116
scholarrs199422116
googlers199422116
pharmgkbrs199422116
gwascentralrs199422116
openSNPrs199422116
23andMers199422116
23andMe allrs199422116
SNP Nexus

SNPshotrs199422116
SNPdbers199422116
MSV3drs199422116
GWAS Ctlgrs199422116
Max Magnitude0
ClinVar
Risk rs199422116(A,T;A,T)
Alt rs199422116(A,T;A,T)
Reference rs199422116(G;G)
Significance Pathogenic
Disease Ghosal hematodiaphyseal syndrome
Variation info
Gene TBXAS1
CLNDBN Ghosal hematodiaphyseal syndrome
Reversed 0
HGVS NC_000007.13:g.139717547G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000012663.22,