rs730882234

Orientation

minus

Stabilized

minus

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

Make rs730882234(A;C)

Make rs730882234(C;C)

Reference

GRCh38.p2 38.2/144

Chromosome

17

Position

59697725

Gene

PTRH2

is a	snp
is	mentioned by
dbSNP	rs730882234
dbSNP (classic)	rs730882234
ClinGen	rs730882234
ebi	rs730882234
HLI	rs730882234
Exac	rs730882234
Gnomad	rs730882234
Varsome	rs730882234
LitVar	rs730882234
Map	rs730882234
PheGenI	rs730882234
Biobank	rs730882234
1000 genomes	rs730882234
hgdp	rs730882234
ensembl	rs730882234
geneview	rs730882234
scholar	rs730882234
google	rs730882234
pharmgkb	rs730882234
gwascentral	rs730882234
openSNP	rs730882234
23andMe	rs730882234
SNPshot	rs730882234
SNPdbe	rs730882234
MSV3d	rs730882234
GWAS Ctlg	rs730882234

Max Magnitude

0

ClinVar
Risk	rs730882234(C;C)
Alt	rs730882234(C;C)
Reference	Rs730882234(A;A)
Significance	Pathogenic
Disease	Ataxia Global developmental delay Hearing impairment Neurologic
Variation	info
Gene	PTRH2
CLNDBN	Ataxia Global developmental delay Hearing impairment Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset
Reversed	1
HGVS	NC_000017.10:g.57775086T>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000162156.1, RCV000162247.5,