rs139582106

Orientation

plus

Stabilized

plus

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

Make rs139582106(A;A)

Make rs139582106(A;C)

Reference

GRCh38.p2 38.2/144

Chromosome

1

Position

114684278

Gene

AMPD1

is a	snp
is	mentioned by
dbSNP	rs139582106
dbSNP (classic)	rs139582106
ClinGen	rs139582106
ebi	rs139582106
HLI	rs139582106
Exac	rs139582106
Gnomad	rs139582106
Varsome	rs139582106
LitVar	rs139582106
Map	rs139582106
PheGenI	rs139582106
Biobank	rs139582106
1000 genomes	rs139582106
hgdp	rs139582106
ensembl	rs139582106
geneview	rs139582106
scholar	rs139582106
google	rs139582106
pharmgkb	rs139582106
gwascentral	rs139582106
openSNP	rs139582106
23andMe	rs139582106
SNPshot	rs139582106
SNPdbe	rs139582106
MSV3d	rs139582106
GWAS Ctlg	rs139582106

Max Magnitude

0

ClinVar
Risk	rs139582106(A;A)
Alt	rs139582106(A;A)
Reference	Rs139582106(C;C)
Significance	Probable-Pathogenic
Disease	Muscle AMP deaminase deficiency not provided
Variation	info
Gene	AMPD1
CLNDBN	Muscle AMP deaminase deficiency not provided
Reversed	0
HGVS	NC_000001.10:g.115226899C>A
CLNSRC
CLNACC	RCV000178704.1, RCV000443504.1,