rs137852308

Orientation

minus

Stabilized

minus

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

Make rs137852308(G;T)

Make rs137852308(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

55021215

Gene

ALAS2

is a	snp
is	mentioned by
dbSNP	rs137852308
dbSNP (classic)	rs137852308
ClinGen	rs137852308
ebi	rs137852308
HLI	rs137852308
Exac	rs137852308
Gnomad	rs137852308
Varsome	rs137852308
LitVar	rs137852308
Map	rs137852308
PheGenI	rs137852308
Biobank	rs137852308
1000 genomes	rs137852308
hgdp	rs137852308
ensembl	rs137852308
geneview	rs137852308
scholar	rs137852308
google	rs137852308
pharmgkb	rs137852308
gwascentral	rs137852308
openSNP	rs137852308
23andMe	rs137852308
SNPshot	rs137852308
SNPdbe	rs137852308
MSV3d	rs137852308
GWAS Ctlg	rs137852308

Merged from

Rs28935190

Max Magnitude

0

OMIM	301300
Desc
Variant	0011
Related	also

OMIM	301300
Desc
Variant	0012
Related	also

ClinVar
Risk	rs137852308(A;A) rs137852308(T;T)
Alt	rs137852308(A;A) rs137852308(T;T)
Reference	Rs137852308(G;G)
Significance	Pathogenic
Disease	Hereditary sideroblastic anemia
Variation	info
Gene	ALAS2
CLNDBN	Hereditary sideroblastic anemia
Reversed	1
HGVS	NC_000023.10:g.55047648C>A; NC_000023.10:g.55047648C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011224.5, RCV000011225.4,