rs121912682

Orientation

minus

Stabilized

minus

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

Make rs121912682(A;A)

Make rs121912682(A;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

114677465

Gene

AMPD1

is a	snp
is	mentioned by
dbSNP	rs121912682
dbSNP (classic)	rs121912682
ClinGen	rs121912682
ebi	rs121912682
HLI	rs121912682
Exac	rs121912682
Gnomad	rs121912682
Varsome	rs121912682
LitVar	rs121912682
Map	rs121912682
PheGenI	rs121912682
Biobank	rs121912682
1000 genomes	rs121912682
hgdp	rs121912682
ensembl	rs121912682
geneview	rs121912682
scholar	rs121912682
google	rs121912682
pharmgkb	rs121912682
gwascentral	rs121912682
openSNP	rs121912682
23andMe	rs121912682
SNPshot	rs121912682
SNPdbe	rs121912682
MSV3d	rs121912682
GWAS Ctlg	rs121912682

GMAF

0.0009183

Max Magnitude

0

OMIM	102770
Desc
Variant	0003
Related	also

ClinVar
Risk	rs121912682(A;A)
Alt	rs121912682(A;A)
Reference	Rs121912682(G;G)
Significance	Other
Disease	Muscle AMP deaminase deficiency not specified
Variation	info
Gene	AMPD1
CLNDBN	Muscle AMP deaminase deficiency not specified
Reversed	1
HGVS	NC_000001.10:g.115220086C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019935.31, RCV000173624.1,