rs28937595

Orientation

minus

Stabilized

minus

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

Make rs28937595(A;A)

Make rs28937595(A;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

169477447

Gene

SLC19A2

is a	snp
is	mentioned by
dbSNP	rs28937595
dbSNP (classic)	rs28937595
ClinGen	rs28937595
ebi	rs28937595
HLI	rs28937595
Exac	rs28937595
Gnomad	rs28937595
Varsome	rs28937595
LitVar	rs28937595
Map	rs28937595
PheGenI	rs28937595
Biobank	rs28937595
1000 genomes	rs28937595
hgdp	rs28937595
ensembl	rs28937595
geneview	rs28937595
scholar	rs28937595
google	rs28937595
pharmgkb	rs28937595
gwascentral	rs28937595
openSNP	rs28937595
23andMe	rs28937595
SNPshot	rs28937595
SNPdbe	rs28937595
MSV3d	rs28937595
GWAS Ctlg	rs28937595

Max Magnitude

0

OMIM	603941
Desc	THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME
Variant	0003
Related	also

ClinVar
Risk	rs28937595(A;A)
Alt	rs28937595(A;A)
Reference	Rs28937595(G;G)
Significance	Pathogenic
Disease	Megaloblastic anemia not provided
Variation	info
Gene	SLC19A2
CLNDBN	Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness not provided
Reversed	1
HGVS	NC_000001.10:g.169446685C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006321.3, RCV000486790.1,