rs104894508

Orientation

minus

Stabilized

minus

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

Make rs104894508(C;C)

Make rs104894508(C;T)

Reference

GRCh38 38.1/141

Chromosome

16

Position

88810141

Gene

APRT

is a	snp
is	mentioned by
dbSNP	rs104894508
dbSNP (classic)	rs104894508
ClinGen	rs104894508
ebi	rs104894508
HLI	rs104894508
Exac	rs104894508
Gnomad	rs104894508
Varsome	rs104894508
LitVar	rs104894508
Map	rs104894508
PheGenI	rs104894508
Biobank	rs104894508
1000 genomes	rs104894508
hgdp	rs104894508
ensembl	rs104894508
geneview	rs104894508
scholar	rs104894508
google	rs104894508
pharmgkb	rs104894508
gwascentral	rs104894508
openSNP	rs104894508
23andMe	rs104894508
SNPshot	rs104894508
SNPdbe	rs104894508
MSV3d	rs104894508
GWAS Ctlg	rs104894508

Max Magnitude

0

OMIM	102600
Desc
Variant	0007
Related	also

ClinVar
Risk	rs104894508(C;C)
Alt	rs104894508(C;C)
Reference	Rs104894508(T;T)
Significance	Pathogenic
Disease	Adenine phosphoribosyltransferase deficiency
Variation	info
Gene	APRT
CLNDBN	Adenine phosphoribosyltransferase deficiency
Reversed	1
HGVS	NC_000016.9:g.88876549A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019962.26,