rs142181517

Orientation

plus

Stabilized

plus

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

Make rs142181517(A;A)

Make rs142181517(A;T)

Reference

GRCh38 38.1/142

Chromosome

5

Position

178211964

Gene

PHYKPL

is a	snp
is	mentioned by
dbSNP	rs142181517
dbSNP (classic)	rs142181517
ClinGen	rs142181517
ebi	rs142181517
HLI	rs142181517
Exac	rs142181517
Gnomad	rs142181517
Varsome	rs142181517
LitVar	rs142181517
Map	rs142181517
PheGenI	rs142181517
Biobank	rs142181517
1000 genomes	rs142181517
hgdp	rs142181517
ensembl	rs142181517
geneview	rs142181517
scholar	rs142181517
google	rs142181517
pharmgkb	rs142181517
gwascentral	rs142181517
openSNP	rs142181517
23andMe	rs142181517
SNPshot	rs142181517
SNPdbe	rs142181517
MSV3d	rs142181517
GWAS Ctlg	rs142181517

Max Magnitude

0

ClinVar
Risk	rs142181517(A;A)
Alt	rs142181517(A;A)
Reference	Rs142181517(T;T)
Significance	Pathogenic
Disease	Phosphohydroxylysinuria
Variation	info
Gene	PHYKPL
CLNDBN	Phosphohydroxylysinuria
Reversed	0
HGVS	NC_000005.9:g.177638965T>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000032770.5,