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rs104894517

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in complete genomics
Make rs104894517(C;C)
Make rs104894517(C;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position72060409
GeneHP, TXNL4B
is asnp
is mentioned by
dbSNPrs104894517
dbSNP (classic)rs104894517
ClinGenrs104894517
ebirs104894517
HLIrs104894517
Exacrs104894517
Gnomadrs104894517
Varsomers104894517
LitVarrs104894517
Maprs104894517
PheGenIrs104894517
Biobankrs104894517
1000 genomesrs104894517
hgdprs104894517
ensemblrs104894517
geneviewrs104894517
scholarrs104894517
googlers104894517
pharmgkbrs104894517
gwascentralrs104894517
openSNPrs104894517
23andMers104894517
SNPshotrs104894517
SNPdbers104894517
MSV3drs104894517
GWAS Ctlgrs104894517
Max Magnitude0
OMIM140100
Desc
Variant0005
Relatedalso
ClinVar
Risk rs104894517(C;C)
Alt rs104894517(C;C)
Reference Rs104894517(T;T)
Significance Other
Disease Anhaptoglobinemia
Variation info
Gene HP
CLNDBN Anhaptoglobinemia
Reversed 0
HGVS NC_000016.9:g.72094308T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000017249.4,