rs121913611

Orientation

plus

Stabilized

plus

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

Make rs121913611(C;T)

Make rs121913611(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

43340042

Gene

MPL

is a	snp
is	mentioned by
dbSNP	rs121913611
dbSNP (classic)	rs121913611
ClinGen	rs121913611
ebi	rs121913611
HLI	rs121913611
Exac	rs121913611
Gnomad	rs121913611
Varsome	rs121913611
LitVar	rs121913611
Map	rs121913611
PheGenI	rs121913611
Biobank	rs121913611
1000 genomes	rs121913611
hgdp	rs121913611
ensembl	rs121913611
geneview	rs121913611
scholar	rs121913611
google	rs121913611
pharmgkb	rs121913611
gwascentral	rs121913611
openSNP	rs121913611
23andMe	rs121913611
SNPshot	rs121913611
SNPdbe	rs121913611
MSV3d	rs121913611
GWAS Ctlg	rs121913611

Max Magnitude

0

OMIM	159530
Desc
Variant	0003
Related	also

ClinVar
Risk	rs121913611(T;T)
Alt	rs121913611(T;T)
Reference	Rs121913611(C;C)
Significance	Pathogenic
Disease	Congenital amegakaryocytic thrombocytopenia
Variation	info
Gene	MPL
CLNDBN	Congenital amegakaryocytic thrombocytopenia
Reversed	0
HGVS	NC_000001.10:g.43805713C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000015219.22,