rs386834162

Orientation

plus

Stabilized

plus

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

Make rs386834162(-;-)

Make rs386834162(-;TCGCCCCGCCGCGGG)

Reference

GRCh38 38.1/141

Chromosome

14

Position

102930122

Gene

AMN

is a	snp
is	mentioned by
dbSNP	rs386834162
dbSNP (classic)	rs386834162
ClinGen	rs386834162
ebi	rs386834162
HLI	rs386834162
Exac	rs386834162
Gnomad	rs386834162
Varsome	rs386834162
LitVar	rs386834162
Map	rs386834162
PheGenI	rs386834162
Biobank	rs386834162
1000 genomes	rs386834162
hgdp	rs386834162
ensembl	rs386834162
geneview	rs386834162
scholar	rs386834162
google	rs386834162
pharmgkb	rs386834162
gwascentral	rs386834162
openSNP	rs386834162
23andMe	rs386834162
SNPshot	rs386834162
SNPdbe	rs386834162
MSV3d	rs386834162
GWAS Ctlg	rs386834162

Max Magnitude

0

ClinVar
Risk	rs386834162(-;-)
Alt	rs386834162(-;-)
Reference	Rs386834162(TCGCCCCGCCGCGGG;TCGCCCCGCCGCGGG)
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.103396459_103396473delTCGCCCCGCCGCGGG
CLNSRC	ClinVar
CLNACC	RCV000050156.1,

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