rs386834179

Orientation

plus

Stabilized

plus

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

Make rs386834179(-;CCCG)

Make rs386834179(CCCG;CCCG)

Reference

GRCh38 38.1/141

Chromosome

14

Position

102930057

Gene

AMN

is a	snp
is	mentioned by
dbSNP	rs386834179
dbSNP (classic)	rs386834179
ClinGen	rs386834179
ebi	rs386834179
HLI	rs386834179
Exac	rs386834179
Gnomad	rs386834179
Varsome	rs386834179
LitVar	rs386834179
Map	rs386834179
PheGenI	rs386834179
Biobank	rs386834179
1000 genomes	rs386834179
hgdp	rs386834179
ensembl	rs386834179
geneview	rs386834179
scholar	rs386834179
google	rs386834179
pharmgkb	rs386834179
gwascentral	rs386834179
openSNP	rs386834179
23andMe	rs386834179
SNPshot	rs386834179
SNPdbe	rs386834179
MSV3d	rs386834179
GWAS Ctlg	rs386834179

Max Magnitude

0

ClinVar
Risk	rs386834179(GCCC;GCCC)
Alt	rs386834179(GCCC;GCCC)
Reference	Rs386834179(-;-)
Significance	Probable-Pathogenic
Disease	Megaloblastic anemia due to inborn errors of metabolism
Variation	info
Gene	AMN
CLNDBN	Megaloblastic anemia due to inborn errors of metabolism
Reversed	0
HGVS	NC_000014.8:g.103396391_103396394dupCCCG
CLNSRC	ClinVar
CLNACC	RCV000050174.1,

[PMID 22929189] Inherited cobalamin malabsorption. Mutations in three genes reveal functional and ethnic patterns.