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rs17147990

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs17147990(A;A)
Make rs17147990(A;T)
ReferenceGRCh38.p2 38.2/147
Chromosome4
Position70033205
GeneHTN3
is asnp
is mentioned by
dbSNPrs17147990
dbSNP (classic)rs17147990
ClinGenrs17147990
ebirs17147990
HLIrs17147990
Exacrs17147990
Gnomadrs17147990
Varsomers17147990
LitVarrs17147990
Maprs17147990
PheGenIrs17147990
Biobankrs17147990
1000 genomesrs17147990
hgdprs17147990
ensemblrs17147990
geneviewrs17147990
scholarrs17147990
googlers17147990
pharmgkbrs17147990
gwascentralrs17147990
openSNPrs17147990
23andMers17147990
SNPshotrs17147990
SNPdbers17147990
MSV3drs17147990
GWAS Ctlgrs17147990
Max Magnitude0
? (A;A) (A;T) (T;T) 28


ClinVar
Risk rs17147990(A;A)
Alt rs17147990(A;A)
Reference Rs17147990(T;T)
Significance Pathogenic
Disease HIS2*1/HIS2*2 POLYMORPHISM
Variation info
Gene HTN3
CLNDBN HIS2*1/HIS2*2 POLYMORPHISM
Reversed 0
HGVS NC_000004.11:g.70898922T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000016048.2,