rs104894507

Orientation

minus

Stabilized

minus

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

Make rs104894507(A;A)

Make rs104894507(A;G)

Reference

GRCh38 38.1/141

Chromosome

16

Position

88810450

Gene

APRT

is a	snp
is	mentioned by
dbSNP	rs104894507
dbSNP (classic)	rs104894507
ClinGen	rs104894507
ebi	rs104894507
HLI	rs104894507
Exac	rs104894507
Gnomad	rs104894507
Varsome	rs104894507
LitVar	rs104894507
Map	rs104894507
PheGenI	rs104894507
Biobank	rs104894507
1000 genomes	rs104894507
hgdp	rs104894507
ensembl	rs104894507
geneview	rs104894507
scholar	rs104894507
google	rs104894507
pharmgkb	rs104894507
gwascentral	rs104894507
openSNP	rs104894507
23andMe	rs104894507
SNPshot	rs104894507
SNPdbe	rs104894507
MSV3d	rs104894507
GWAS Ctlg	rs104894507

Max Magnitude

0

OMIM	102600
Desc
Variant	0005
Related	also

ClinVar
Risk	rs104894507(A;A)
Alt	rs104894507(A;A)
Reference	Rs104894507(G;G)
Significance	Pathogenic
Disease	Adenine phosphoribosyltransferase deficiency
Variation	info
Gene	APRT
CLNDBN	Adenine phosphoribosyltransferase deficiency
Reversed	1
HGVS	NC_000016.9:g.88876858C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000033905.5,