rs121913613

Orientation

plus

Stabilized

plus

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

Make rs121913613(A;A)

Make rs121913613(A;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

43349267

Gene

MPL

is a	snp
is	mentioned by
dbSNP	rs121913613
dbSNP (classic)	rs121913613
ClinGen	rs121913613
ebi	rs121913613
HLI	rs121913613
Exac	rs121913613
Gnomad	rs121913613
Varsome	rs121913613
LitVar	rs121913613
Map	rs121913613
PheGenI	rs121913613
Biobank	rs121913613
1000 genomes	rs121913613
hgdp	rs121913613
ensembl	rs121913613
geneview	rs121913613
scholar	rs121913613
google	rs121913613
pharmgkb	rs121913613
gwascentral	rs121913613
openSNP	rs121913613
23andMe	rs121913613
SNPshot	rs121913613
SNPdbe	rs121913613
MSV3d	rs121913613
GWAS Ctlg	rs121913613

Max Magnitude

0

OMIM	159530
Desc
Variant	0006
Related	also

ClinVar
Risk	rs121913613(A;A)
Alt	rs121913613(A;A)
Reference	Rs121913613(G;G)
Significance	Pathogenic
Disease	Congenital amegakaryocytic thrombocytopenia
Variation	info
Gene	MPL
CLNDBN	Congenital amegakaryocytic thrombocytopenia
Reversed	0
HGVS	NC_000001.10:g.43814938G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000015222.26,