rs869025323

Orientation

minus

Stabilized

minus

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

Make rs869025323(A;A)

Make rs869025323(A;G)

Reference

GRCh38.p2 38.2/147

Chromosome

4

Position

88523797

Gene	LOC101929134, PIGY, PYURF

is a	snp
is	mentioned by
dbSNP	rs869025323
dbSNP (classic)	rs869025323
ClinGen	rs869025323
ebi	rs869025323
HLI	rs869025323
Exac	rs869025323
Gnomad	rs869025323
Varsome	rs869025323
LitVar	rs869025323
Map	rs869025323
PheGenI	rs869025323
Biobank	rs869025323
1000 genomes	rs869025323
hgdp	rs869025323
ensembl	rs869025323
geneview	rs869025323
scholar	rs869025323
google	rs869025323
pharmgkb	rs869025323
gwascentral	rs869025323
openSNP	rs869025323
23andMe	rs869025323
SNPshot	rs869025323
SNPdbe	rs869025323
MSV3d	rs869025323
GWAS Ctlg	rs869025323

Max Magnitude

0

ClinVar
Risk	rs869025323(A;A)
Alt	rs869025323(A;A)
Reference	Rs869025323(G;G)
Significance	Pathogenic
Disease	Hyperphosphatasia with mental retardation syndrome 6
Variation	info
Gene	PIGY PYURF LOC101929134
CLNDBN	Hyperphosphatasia with mental retardation syndrome 6
Reversed	1
HGVS	NC_000004.11:g.89444948C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000207473.1,