rs119478058

Orientation

plus

Stabilized

plus

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

Make rs119478058(C;T)

Make rs119478058(T;T)

Reference

GRCh38 38.1/141

Chromosome

14

Position

102923789

Gene

AMN

is a	snp
is	mentioned by
dbSNP	rs119478058
dbSNP (classic)	rs119478058
ClinGen	rs119478058
ebi	rs119478058
HLI	rs119478058
Exac	rs119478058
Gnomad	rs119478058
Varsome	rs119478058
LitVar	rs119478058
Map	rs119478058
PheGenI	rs119478058
Biobank	rs119478058
1000 genomes	rs119478058
hgdp	rs119478058
ensembl	rs119478058
geneview	rs119478058
scholar	rs119478058
google	rs119478058
pharmgkb	rs119478058
gwascentral	rs119478058
openSNP	rs119478058
23andMe	rs119478058
SNPshot	rs119478058
SNPdbe	rs119478058
MSV3d	rs119478058
GWAS Ctlg	rs119478058

Merged from

Rs28939377

Max Magnitude

0

OMIM	605799
Desc
Variant	0002
Related	also

ClinVar
Risk	rs119478058(T;T)
Alt	rs119478058(T;T)
Reference	Rs119478058(C;C)
Significance	Pathogenic
Disease	Megaloblastic anemia 1
Variation	info
Gene	AMN
CLNDBN	Megaloblastic anemia 1, Norwegian type
Reversed	0
HGVS	NC_000014.8:g.103390126C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000005036.2,