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

rs193922552

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GA;GA) 0 common in clinvar
Make rs193922552(AT;AT)
Make rs193922552(AT;GA)
ReferenceGRCh38 38.1/141
Chromosome11
Position5227002
GeneHBB
is asnp
is mentioned by
dbSNPrs193922552
ebirs193922552
HLIrs193922552
Exacrs193922552
Varsomers193922552
Maprs193922552
PheGenIrs193922552
hapmaprs193922552
1000 genomesrs193922552
hgdprs193922552
ensemblrs193922552
gopubmedrs193922552
geneviewrs193922552
scholarrs193922552
googlers193922552
pharmgkbrs193922552
gwascentralrs193922552
openSNPrs193922552
23andMers193922552
23andMe allrs193922552
SNP Nexus

SNPshotrs193922552
SNPdbers193922552
MSV3drs193922552
GWAS Ctlgrs193922552
Max Magnitude0
ClinVar
Risk rs193922552(AT;AT)
Alt rs193922552(AT;AT)
Reference rs193922552(GA;GA)
Significance Probable-Pathogenic
Disease beta Thalassemia
Variation info
Gene HBB
CLNDBN beta Thalassemia
Reversed 1
HGVS NC_000011.9:g.5248232_5248233delTCinsAT
CLNSRC ClinVar
CLNACC RCV000029966.1,