rs148434485

Orientation

plus

Stabilized

plus

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

Make rs148434485(C;T)

Make rs148434485(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

1

Position

43338146

Gene

MPL

is a	snp
is	mentioned by
dbSNP	rs148434485
dbSNP (classic)	rs148434485
ClinGen	rs148434485
ebi	rs148434485
HLI	rs148434485
Exac	rs148434485
Gnomad	rs148434485
Varsome	rs148434485
LitVar	rs148434485
Map	rs148434485
PheGenI	rs148434485
Biobank	rs148434485
1000 genomes	rs148434485
hgdp	rs148434485
ensembl	rs148434485
geneview	rs148434485
scholar	rs148434485
google	rs148434485
pharmgkb	rs148434485
gwascentral	rs148434485
openSNP	rs148434485
23andMe	rs148434485
SNPshot	rs148434485
SNPdbe	rs148434485
MSV3d	rs148434485
GWAS Ctlg	rs148434485

Max Magnitude

0

ClinVar
Risk	rs148434485(T;T)
Alt	rs148434485(T;T)
Reference	Rs148434485(C;C)
Significance	Pathogenic
Disease	Congenital amegakaryocytic thrombocytopenia
Variation	info
Gene	MPL
CLNDBN	Congenital amegakaryocytic thrombocytopenia
Reversed	0
HGVS	NC_000001.10:g.43803817C>T
CLNSRC
CLNACC	RCV000411190.1,