rs104894506

Orientation

minus

Stabilized

minus

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

Make rs104894506(A;T)

Make rs104894506(T;T)

Reference

GRCh38 38.1/141

Chromosome

16

Position

88810550

Gene

APRT

is a	snp
is	mentioned by
dbSNP	rs104894506
dbSNP (classic)	rs104894506
ClinGen	rs104894506
ebi	rs104894506
HLI	rs104894506
Exac	rs104894506
Gnomad	rs104894506
Varsome	rs104894506
LitVar	rs104894506
Map	rs104894506
PheGenI	rs104894506
Biobank	rs104894506
1000 genomes	rs104894506
hgdp	rs104894506
ensembl	rs104894506
geneview	rs104894506
scholar	rs104894506
google	rs104894506
pharmgkb	rs104894506
gwascentral	rs104894506
openSNP	rs104894506
23andMe	rs104894506
SNPshot	rs104894506
SNPdbe	rs104894506
MSV3d	rs104894506
GWAS Ctlg	rs104894506

Max Magnitude

0

OMIM	102600
Desc
Variant	0004
Related	also

ClinVar
Risk	rs104894506(T;T)
Alt	rs104894506(T;T)
Reference	Rs104894506(A;A)
Significance	Pathogenic
Disease	Adenine phosphoribosyltransferase deficiency
Variation	info
Gene	APRT
CLNDBN	Adenine phosphoribosyltransferase deficiency
Reversed	1
HGVS	NC_000016.9:g.88876958T>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000033903.5,