rs587777089

Orientation

plus

Stabilized

plus

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

Make rs587777089(C;T)

Make rs587777089(T;T)

Reference

GRCh38 38.1/142

Chromosome

8

Position

96304092

Gene

PTDSS1

is a	snp
is	mentioned by
dbSNP	rs587777089
dbSNP (classic)	rs587777089
ClinGen	rs587777089
ebi	rs587777089
HLI	rs587777089
Exac	rs587777089
Gnomad	rs587777089
Varsome	rs587777089
LitVar	rs587777089
Map	rs587777089
PheGenI	rs587777089
Biobank	rs587777089
1000 genomes	rs587777089
hgdp	rs587777089
ensembl	rs587777089
geneview	rs587777089
scholar	rs587777089
google	rs587777089
pharmgkb	rs587777089
gwascentral	rs587777089
openSNP	rs587777089
23andMe	rs587777089
SNPshot	rs587777089
SNPdbe	rs587777089
MSV3d	rs587777089
GWAS Ctlg	rs587777089

Max Magnitude

0

ClinVar
Risk	rs587777089(T;T)
Alt	rs587777089(T;T)
Reference	Rs587777089(C;C)
Significance	Pathogenic
Disease	Lenz-Majewski hyperostosis syndrome
Variation	info
Gene	PTDSS1
CLNDBN	Lenz-Majewski hyperostosis syndrome
Reversed	0
HGVS	NC_000008.10:g.97316320C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000083281.3,