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

rs148636776

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 3 Possible association with thrombocythemia
(G;G) 0 common/normal


Make rs148636776(A;A)
ReferenceGRCh38.p7 38.3/150
Chromosome12
Position111447491
GeneSH2B3
is asnp
is mentioned by
dbSNPrs148636776
dbSNP (old)rs148636776
ClinGenrs148636776
ebirs148636776
HLIrs148636776
Exacrs148636776
Gnomadrs148636776
Varsomers148636776
Maprs148636776
PheGenIrs148636776
Biobankrs148636776
1000 genomesrs148636776
hgdprs148636776
ensemblrs148636776
gopubmedrs148636776
geneviewrs148636776
scholarrs148636776
googlers148636776
pharmgkbrs148636776
gwascentralrs148636776
openSNPrs148636776
23andMers148636776
23andMe allrs148636776
SNPshotrs148636776
SNPdbers148636776
MSV3drs148636776
GWAS Ctlgrs148636776
Max Magnitude3

aka E395K

Based on ACMG guidelines, originally classified as of "uncertain status" for familial erythrocytosis type 1 and essential thrombocythemia, ; in 10.1126/science.aal4043, this variant appears to have some effect (see paper for discussion) and so it is denoted as pathogenic.