rs386834161

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(CCTCGCCCCGCCGCG;CCTCGCCCCGCCGCG)	0	common in clinvar
(CGCCCCGCCGCGCCT;CGCCCCGCCGCGCCT)	0	common in clinvar

Make rs386834161(-;-)

Make rs386834161(-;CCTCGCCCCGCCGCG)

Reference

GRCh38 38.1/141

Chromosome

14

Position

102930120

Gene

AMN

is a	snp
is	mentioned by
dbSNP	rs386834161
dbSNP (classic)	rs386834161
ClinGen	rs386834161
ebi	rs386834161
HLI	rs386834161
Exac	rs386834161
Gnomad	rs386834161
Varsome	rs386834161
LitVar	rs386834161
Map	rs386834161
PheGenI	rs386834161
Biobank	rs386834161
1000 genomes	rs386834161
hgdp	rs386834161
ensembl	rs386834161
geneview	rs386834161
scholar	rs386834161
google	rs386834161
pharmgkb	rs386834161
gwascentral	rs386834161
openSNP	rs386834161
23andMe	rs386834161
SNPshot	rs386834161
SNPdbe	rs386834161
MSV3d	rs386834161
GWAS Ctlg	rs386834161

Max Magnitude

0

ClinVar
Risk	rs386834161(-;-)
Alt	rs386834161(-;-)
Reference	Rs386834161(CGCCCCGCCGCGCCT;CGCCCCGCCGCGCCT)
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.103396457_103396471delCCTCGCCCCGCCGCG
CLNSRC	ClinVar
CLNACC	RCV000050155.1,

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