Have questions? Visit https://www.reddit.com/r/SNPedia

rs730882234

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs730882234(A;C)
Make rs730882234(C;C)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position59697725
GenePTRH2
is asnp
is mentioned by
dbSNPrs730882234
ebirs730882234
HLIrs730882234
Exacrs730882234
Varsomers730882234
Maprs730882234
PheGenIrs730882234
hapmaprs730882234
1000 genomesrs730882234
hgdprs730882234
ensemblrs730882234
gopubmedrs730882234
geneviewrs730882234
scholarrs730882234
googlers730882234
pharmgkbrs730882234
gwascentralrs730882234
openSNPrs730882234
23andMers730882234
23andMe allrs730882234
SNP Nexus

SNPshotrs730882234
SNPdbers730882234
MSV3drs730882234
GWAS Ctlgrs730882234
Max Magnitude0
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
CLNACC RCV000162156.1, RCV000162247.4,