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rs17292650

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs17292650(G;T)
Make rs17292650(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position43338136
GeneMPL
is asnp
is mentioned by
dbSNPrs17292650
dbSNP (classic)rs17292650
ClinGenrs17292650
ebirs17292650
HLIrs17292650
Exacrs17292650
Gnomadrs17292650
Varsomers17292650
LitVarrs17292650
Maprs17292650
PheGenIrs17292650
Biobankrs17292650
1000 genomesrs17292650
hgdprs17292650
ensemblrs17292650
geneviewrs17292650
scholarrs17292650
googlers17292650
pharmgkbrs17292650
gwascentralrs17292650
openSNPrs17292650
23andMers17292650
SNPshotrs17292650
SNPdbers17292650
MSV3drs17292650
GWAS Ctlgrs17292650
GMAF0.01148
Max Magnitude0
? (G;G) (G;T) (T;T) 28


OMIM159530
DescTHROMBOCYTOSIS, SUSCEPTIBILITY TO
Variant0009
Relatedalso



ClinVar
Risk rs17292650(T;T)
Alt rs17292650(T;T)
Reference Rs17292650(G;G)
Significance Other
Disease Thrombocytosis not specified Essential thrombocythemia Congenital amegakaryocytic thrombocytopenia
Variation info
Gene MPL
CLNDBN Thrombocytosis, benign familial microcytic not specified Essential thrombocythemia Congenital amegakaryocytic thrombocytopenia
Reversed 0
HGVS NC_000001.10:g.43803807G>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000015225.3, RCV000121535.1, RCV000359577.1, RCV000400040.1,