rs137852300

Orientation

minus

Stabilized

minus

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

Make rs137852300(C;G)

Make rs137852300(G;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

55015583

Gene

ALAS2

is a	snp
is	mentioned by
dbSNP	rs137852300
dbSNP (classic)	rs137852300
ClinGen	rs137852300
ebi	rs137852300
HLI	rs137852300
Exac	rs137852300
Gnomad	rs137852300
Varsome	rs137852300
LitVar	rs137852300
Map	rs137852300
PheGenI	rs137852300
Biobank	rs137852300
1000 genomes	rs137852300
hgdp	rs137852300
ensembl	rs137852300
geneview	rs137852300
scholar	rs137852300
google	rs137852300
pharmgkb	rs137852300
gwascentral	rs137852300
openSNP	rs137852300
23andMe	rs137852300
SNPshot	rs137852300
SNPdbe	rs137852300
MSV3d	rs137852300
GWAS Ctlg	rs137852300

Max Magnitude

0

OMIM	301300
Desc
Variant	0002
Related	also

ClinVar
Risk	rs137852300(G;G)
Alt	rs137852300(G;G)
Reference	Rs137852300(C;C)
Significance	Pathogenic
Disease	Hereditary sideroblastic anemia
Variation	info
Gene	ALAS2
CLNDBN	Hereditary sideroblastic anemia
Reversed	1
HGVS	NC_000023.10:g.55042016G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011215.5,