rs28928907

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common in complete genomics

Make rs28928907(C;C)

Make rs28928907(C;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

43338634

Gene

MPL

is a	snp
is	mentioned by
dbSNP	rs28928907
dbSNP (classic)	rs28928907
ClinGen	rs28928907
ebi	rs28928907
HLI	rs28928907
Exac	rs28928907
Gnomad	rs28928907
Varsome	rs28928907
LitVar	rs28928907
Map	rs28928907
PheGenI	rs28928907
Biobank	rs28928907
1000 genomes	rs28928907
hgdp	rs28928907
ensembl	rs28928907
geneview	rs28928907
scholar	rs28928907
google	rs28928907
pharmgkb	rs28928907
gwascentral	rs28928907
openSNP	rs28928907
23andMe	rs28928907
SNPshot	rs28928907
SNPdbe	rs28928907
MSV3d	rs28928907
GWAS Ctlg	rs28928907

GMAF

0.0004591

Max Magnitude

0

OMIM	159530
Desc	AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL
Variant	0005
Related	also

ClinVar
Risk	rs28928907(C;C)
Alt	rs28928907(C;C)
Reference	Rs28928907(G;G)
Significance	Pathogenic
Disease	Congenital amegakaryocytic thrombocytopenia not specified
Variation	info
Gene	MPL
CLNDBN	Congenital amegakaryocytic thrombocytopenia not specified
Reversed	0
HGVS	NC_000001.10:g.43804305G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015221.26, RCV000121539.1,