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rs202080221

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs202080221(C;C)
Make rs202080221(C;G)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position111418767
GeneSH2B3
is asnp
is mentioned by
dbSNPrs202080221
dbSNP (classic)rs202080221
ClinGenrs202080221
ebirs202080221
HLIrs202080221
Exacrs202080221
Gnomadrs202080221
Varsomers202080221
LitVarrs202080221
Maprs202080221
PheGenIrs202080221
Biobankrs202080221
1000 genomesrs202080221
hgdprs202080221
ensemblrs202080221
geneviewrs202080221
scholarrs202080221
googlers202080221
pharmgkbrs202080221
gwascentralrs202080221
openSNPrs202080221
23andMers202080221
SNPshotrs202080221
SNPdbers202080221
MSV3drs202080221
GWAS Ctlgrs202080221
Max Magnitude0
ClinVar
Risk rs202080221(C;C) rs202080221(T;T)
Alt rs202080221(C;C) rs202080221(T;T)
Reference Rs202080221(G;G)
Significance Other
Disease Essential thrombocythemia Familial erythrocytosis
Variation info
Gene SH2B3
CLNDBN Essential thrombocythemia Familial erythrocytosis, 1
Reversed 0
HGVS NC_000012.11:g.111856571G>C; NC_000012.11:g.111856571G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000023398.4, RCV000023399.5,