rs34526199

Orientation

plus

Stabilized

plus

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

Make rs34526199(A;A)

Make rs34526199(A;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

114679616

Gene

AMPD1

is a	snp
is	mentioned by
dbSNP	rs34526199
dbSNP (classic)	rs34526199
ClinGen	rs34526199
ebi	rs34526199
HLI	rs34526199
Exac	rs34526199
Gnomad	rs34526199
Varsome	rs34526199
LitVar	rs34526199
Map	rs34526199
PheGenI	rs34526199
Biobank	rs34526199
1000 genomes	rs34526199
hgdp	rs34526199
ensembl	rs34526199
geneview	rs34526199
scholar	rs34526199
google	rs34526199
pharmgkb	rs34526199
gwascentral	rs34526199
openSNP	rs34526199
23andMe	rs34526199
SNPshot	rs34526199
SNPdbe	rs34526199
MSV3d	rs34526199
GWAS Ctlg	rs34526199

Max Magnitude

0

ClinVar
Risk	rs34526199(A;A)
Alt	rs34526199(A;A)
Reference	Rs34526199(T;T)
Significance	Pathogenic
Disease	Muscle AMP deaminase deficiency
Variation	info
Gene	AMPD1
CLNDBN	Muscle AMP deaminase deficiency
Reversed	0
HGVS	NC_000001.10:g.115222237T>A
CLNSRC	HGMD
CLNACC	RCV000077979.5,