rs61752478

Orientation

plus

Stabilized

plus

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

Make rs61752478(A;A)

Make rs61752478(A;C)

Reference

GRCh38 38.1/141

Chromosome

1

Position

114678495

Gene

AMPD1

is a	snp
is	mentioned by
dbSNP	rs61752478
dbSNP (classic)	rs61752478
ClinGen	rs61752478
ebi	rs61752478
HLI	rs61752478
Exac	rs61752478
Gnomad	rs61752478
Varsome	rs61752478
LitVar	rs61752478
Map	rs61752478
PheGenI	rs61752478
Biobank	rs61752478
1000 genomes	rs61752478
hgdp	rs61752478
ensembl	rs61752478
geneview	rs61752478
scholar	rs61752478
google	rs61752478
pharmgkb	rs61752478
gwascentral	rs61752478
openSNP	rs61752478
23andMe	rs61752478
SNPshot	rs61752478
SNPdbe	rs61752478
MSV3d	rs61752478
GWAS Ctlg	rs61752478

Max Magnitude

0

ClinVar
Risk	rs61752478(A;A)
Alt	rs61752478(A;A)
Reference	Rs61752478(C;C)
Significance	Pathogenic
Disease	Muscle AMP deaminase deficiency not specified
Variation	info
Gene	AMPD1
CLNDBN	Muscle AMP deaminase deficiency not specified
Reversed	0
HGVS	NC_000001.10:g.115221116C>A
CLNSRC	HGMD
CLNACC	RCV000077969.4, RCV000425444.1,