Have data from 23andMe or Ancestry? Make a report automatically with Promethease !

rs137853233

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs137853233(A;G)
Make rs137853233(G;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position72057415
GeneHP, TXNL4B
is asnp
is mentioned by
dbSNPrs137853233
dbSNP (old)rs137853233
ClinGenrs137853233
ebirs137853233
HLIrs137853233
Exacrs137853233
Gnomadrs137853233
Varsomers137853233
Maprs137853233
PheGenIrs137853233
Biobankrs137853233
1000 genomesrs137853233
hgdprs137853233
ensemblrs137853233
gopubmedrs137853233
geneviewrs137853233
scholarrs137853233
googlers137853233
pharmgkbrs137853233
gwascentralrs137853233
openSNPrs137853233
23andMers137853233
23andMe allrs137853233
SNPshotrs137853233
SNPdbers137853233
MSV3drs137853233
GWAS Ctlgrs137853233
Max Magnitude0

aka c.214A>G (p.Lys72Glu) in modern (ClinVar) numbering; however, historically this has been referred to as either Lys-53-Glu or Lys54Glu.

rs137853233(A) encodes the haptoglobin alpha-1 fast allele, which is the Lys amino acid; rs137853233(G) encodes the slow allele (Glu amino acid).

OMIM140100
Desc
Variant0001
Relatedalso
ClinVar
Risk rs137853233(G;G)
Alt rs137853233(G;G)
Reference Rs137853233(A;A)
Significance Non-pathogenic
Disease HAPTOGLOBIN
Variation info
Gene HP
CLNDBN HAPTOGLOBIN, ALPHA-1, FAST-SLOW POLYMORPHISM
Reversed 0
HGVS NC_000016.9:g.72091314A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000017244.2,