rs121913610

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs121913610(C;T)

Make rs121913610(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

43339435

Gene

MPL

is a	snp
is	mentioned by
dbSNP	rs121913610
dbSNP (classic)	rs121913610
ClinGen	rs121913610
ebi	rs121913610
HLI	rs121913610
Exac	rs121913610
Gnomad	rs121913610
Varsome	rs121913610
LitVar	rs121913610
Map	rs121913610
PheGenI	rs121913610
Biobank	rs121913610
1000 genomes	rs121913610
hgdp	rs121913610
ensembl	rs121913610
geneview	rs121913610
scholar	rs121913610
google	rs121913610
pharmgkb	rs121913610
gwascentral	rs121913610
openSNP	rs121913610
23andMe	rs121913610
SNPshot	rs121913610
SNPdbe	rs121913610
MSV3d	rs121913610
GWAS Ctlg	rs121913610

Max Magnitude

0

OMIM	159530
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121913610(A;A) rs121913610(G;G) rs121913610(T;T)
Alt	rs121913610(A;A) rs121913610(G;G) rs121913610(T;T)
Reference	Rs121913610(C;C)
Significance	Pathogenic
Disease	Congenital amegakaryocytic thrombocytopenia
Variation	info
Gene	MPL
CLNDBN	Congenital amegakaryocytic thrombocytopenia
Reversed	0
HGVS	NC_000001.10:g.43805106C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000015217.22,