rs28928908

Orientation

plus

Stabilized

plus

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

Make rs28928908(A;A)

Make rs28928908(A;C)

Reference

GRCh38 38.1/141

Chromosome

1

Position

43340096

Gene

MPL

is a	snp
is	mentioned by
dbSNP	rs28928908
dbSNP (classic)	rs28928908
ClinGen	rs28928908
ebi	rs28928908
HLI	rs28928908
Exac	rs28928908
Gnomad	rs28928908
Varsome	rs28928908
LitVar	rs28928908
Map	rs28928908
PheGenI	rs28928908
Biobank	rs28928908
1000 genomes	rs28928908
hgdp	rs28928908
ensembl	rs28928908
geneview	rs28928908
scholar	rs28928908
google	rs28928908
pharmgkb	rs28928908
gwascentral	rs28928908
openSNP	rs28928908
23andMe	rs28928908
SNPshot	rs28928908
SNPdbe	rs28928908
MSV3d	rs28928908
GWAS Ctlg	rs28928908

Max Magnitude

0

OMIM	159530
Desc	AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL
Variant	0008
Related	also

ClinVar
Risk	rs28928908(A;A)
Alt	rs28928908(A;A)
Reference	Rs28928908(C;C)
Significance	Pathogenic
Disease	Congenital amegakaryocytic thrombocytopenia
Variation	info
Gene	MPL
CLNDBN	Congenital amegakaryocytic thrombocytopenia
Reversed	0
HGVS	NC_000001.10:g.43805767C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015224.26,