rs398123114

Orientation

minus

Stabilized

minus

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

Make rs398123114(-;-)

Make rs398123114(-;CTTT)

Reference

GRCh38 38.1/141

Chromosome

1

Position

114688745

Gene

AMPD1

is a	snp
is	mentioned by
dbSNP	rs398123114
dbSNP (classic)	rs398123114
ClinGen	rs398123114
ebi	rs398123114
HLI	rs398123114
Exac	rs398123114
Gnomad	rs398123114
Varsome	rs398123114
LitVar	rs398123114
Map	rs398123114
PheGenI	rs398123114
Biobank	rs398123114
1000 genomes	rs398123114
hgdp	rs398123114
ensembl	rs398123114
geneview	rs398123114
scholar	rs398123114
google	rs398123114
pharmgkb	rs398123114
gwascentral	rs398123114
openSNP	rs398123114
23andMe	rs398123114
SNPshot	rs398123114
SNPdbe	rs398123114
MSV3d	rs398123114
GWAS Ctlg	rs398123114

Max Magnitude

0

ClinVar
Risk	rs398123114(-;-)
Alt	rs398123114(-;-)
Reference	Rs398123114(CTTT;CTTT)
Significance	Pathogenic
Disease	Muscle AMP deaminase deficiency
Variation	info
Gene	AMPD1
CLNDBN	Muscle AMP deaminase deficiency
Reversed	1
HGVS	NC_000001.10:g.115231366_115231369delAAAG
CLNSRC	HGMD
CLNACC	RCV000077972.4,