rs387906619

Orientation

minus

Stabilized

minus

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

Make rs387906619(C;T)

Make rs387906619(T;T)

Reference

GRCh38 38.1/141

Chromosome

5

Position

80649393

Gene

DHFR

is a	snp
is	mentioned by
dbSNP	rs387906619
dbSNP (classic)	rs387906619
ClinGen	rs387906619
ebi	rs387906619
HLI	rs387906619
Exac	rs387906619
Gnomad	rs387906619
Varsome	rs387906619
LitVar	rs387906619
Map	rs387906619
PheGenI	rs387906619
Biobank	rs387906619
1000 genomes	rs387906619
hgdp	rs387906619
ensembl	rs387906619
geneview	rs387906619
scholar	rs387906619
google	rs387906619
pharmgkb	rs387906619
gwascentral	rs387906619
openSNP	rs387906619
23andMe	rs387906619
SNPshot	rs387906619
SNPdbe	rs387906619
MSV3d	rs387906619
GWAS Ctlg	rs387906619

Max Magnitude

0

ClinVar
Risk	rs387906619(T;T)
Alt	rs387906619(T;T)
Reference	Rs387906619(C;C)
Significance	Pathogenic
Disease	Megaloblastic anemia due to dihydrofolate reductase deficiency
Variation	info
Gene	DHFR
CLNDBN	Megaloblastic anemia due to dihydrofolate reductase deficiency
Reversed	1
HGVS	NC_000005.9:g.79945212G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000022524.28,