rs386834160

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(CCATCCCGCCCCGCC;CCATCCCGCCCCGCC)	0	common in clinvar
(CCCGCCCCATCCCGC;CCCGCCCCATCCCGC)	0	common in clinvar

Make rs386834160(-;-)

Make rs386834160(-;CCATCCCGCCCCGCC)

Reference

GRCh38 38.1/141

Chromosome

14

Position

102930102

Gene

AMN

is a	snp
is	mentioned by
dbSNP	rs386834160
dbSNP (classic)	rs386834160
ClinGen	rs386834160
ebi	rs386834160
HLI	rs386834160
Exac	rs386834160
Gnomad	rs386834160
Varsome	rs386834160
LitVar	rs386834160
Map	rs386834160
PheGenI	rs386834160
Biobank	rs386834160
1000 genomes	rs386834160
hgdp	rs386834160
ensembl	rs386834160
geneview	rs386834160
scholar	rs386834160
google	rs386834160
pharmgkb	rs386834160
gwascentral	rs386834160
openSNP	rs386834160
23andMe	rs386834160
SNPshot	rs386834160
SNPdbe	rs386834160
MSV3d	rs386834160
GWAS Ctlg	rs386834160

Max Magnitude

0

ClinVar
Risk	rs386834160(-;-)
Alt	rs386834160(-;-)
Reference	Rs386834160(CCCGCCCCATCCCGC;CCCGCCCCATCCCGC)
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.103396439_103396453delCCATCCCGCCCCGCC
CLNSRC	ClinVar
CLNACC	RCV000050154.1,

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