rs104894277

Orientation

plus

Stabilized

plus

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

Make rs104894277(A;A)

Make rs104894277(A;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

112230210

Gene

PTS

is a	snp
is	mentioned by
dbSNP	rs104894277
dbSNP (classic)	rs104894277
ClinGen	rs104894277
ebi	rs104894277
HLI	rs104894277
Exac	rs104894277
Gnomad	rs104894277
Varsome	rs104894277
LitVar	rs104894277
Map	rs104894277
PheGenI	rs104894277
Biobank	rs104894277
1000 genomes	rs104894277
hgdp	rs104894277
ensembl	rs104894277
geneview	rs104894277
scholar	rs104894277
google	rs104894277
pharmgkb	rs104894277
gwascentral	rs104894277
openSNP	rs104894277
23andMe	rs104894277
SNPshot	rs104894277
SNPdbe	rs104894277
MSV3d	rs104894277
GWAS Ctlg	rs104894277

Max Magnitude

0

OMIM	612719
Desc
Variant	0006
Related	also

ClinVar
Risk	rs104894277(A;A) rs104894277(C;C)
Alt	rs104894277(A;A) rs104894277(C;C)
Reference	Rs104894277(G;G)
Significance	Pathogenic
Disease	6-pyruvoyl-tetrahydropterin synthase deficiency
Variation	info
Gene	PTS
CLNDBN	6-pyruvoyl-tetrahydropterin synthase deficiency
Reversed	0
HGVS	NC_000011.9:g.112100933G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000510.3,