rs864309724

Orientation

minus

Stabilized

minus

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

Make rs864309724(C;T)

Make rs864309724(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

3

Position

169100922

Gene

MECOM

is a	snp
is	mentioned by
dbSNP	rs864309724
dbSNP (classic)	rs864309724
ClinGen	rs864309724
ebi	rs864309724
HLI	rs864309724
Exac	rs864309724
Gnomad	rs864309724
Varsome	rs864309724
LitVar	rs864309724
Map	rs864309724
PheGenI	rs864309724
Biobank	rs864309724
1000 genomes	rs864309724
hgdp	rs864309724
ensembl	rs864309724
geneview	rs864309724
scholar	rs864309724
google	rs864309724
pharmgkb	rs864309724
gwascentral	rs864309724
openSNP	rs864309724
23andMe	rs864309724
SNPshot	rs864309724
SNPdbe	rs864309724
MSV3d	rs864309724
GWAS Ctlg	rs864309724

Max Magnitude

0

ClinVar
Risk	rs864309724(T;T)
Alt	rs864309724(T;T)
Reference	Rs864309724(C;C)
Significance	Pathogenic
Disease	Radioulnar synostosis with amegakaryocytic thrombocytopenia 2
Variation	info
Gene	MECOM
CLNDBN	Radioulnar synostosis with amegakaryocytic thrombocytopenia 2
Reversed	1
HGVS	NC_000003.11:g.168818710G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000203298.2,