rs121913612

Orientation

plus

Stabilized

plus

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

Make rs121913612(C;T)

Make rs121913612(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

43352768

Gene

MPL

is a	snp
is	mentioned by
dbSNP	rs121913612
dbSNP (classic)	rs121913612
ClinGen	rs121913612
ebi	rs121913612
HLI	rs121913612
Exac	rs121913612
Gnomad	rs121913612
Varsome	rs121913612
LitVar	rs121913612
Map	rs121913612
PheGenI	rs121913612
Biobank	rs121913612
1000 genomes	rs121913612
hgdp	rs121913612
ensembl	rs121913612
geneview	rs121913612
scholar	rs121913612
google	rs121913612
pharmgkb	rs121913612
gwascentral	rs121913612
openSNP	rs121913612
23andMe	rs121913612
SNPshot	rs121913612
SNPdbe	rs121913612
MSV3d	rs121913612
GWAS Ctlg	rs121913612

Max Magnitude

0

OMIM	159530
Desc
Variant	0004
Related	also

ClinVar
Risk	rs121913612(T;T)
Alt	rs121913612(T;T)
Reference	Rs121913612(C;C)
Significance	Pathogenic
Disease	Congenital amegakaryocytic thrombocytopenia
Variation	info
Gene	MPL
CLNDBN	Congenital amegakaryocytic thrombocytopenia
Reversed	0
HGVS	NC_000001.10:g.43818439C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000015220.26,