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rs786201017

From SNPedia

Orientationminus
Geno Mag Summary
(CT;CT) 0 common in clinvar
Make rs786201017(-;-)
Make rs786201017(-;CT)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position59697709
GenePTRH2
is asnp
is mentioned by
dbSNPrs786201017
ebirs786201017
HLIrs786201017
Exacrs786201017
Varsomers786201017
Maprs786201017
PheGenIrs786201017
hapmaprs786201017
1000 genomesrs786201017
hgdprs786201017
ensemblrs786201017
gopubmedrs786201017
geneviewrs786201017
scholarrs786201017
googlers786201017
pharmgkbrs786201017
gwascentralrs786201017
openSNPrs786201017
23andMers786201017
23andMe allrs786201017
SNP Nexus

SNPshotrs786201017
SNPdbers786201017
MSV3drs786201017
GWAS Ctlgrs786201017
Max Magnitude0
ClinVar
Risk rs786201017(;)
Alt rs786201017(;)
Reference rs786201017(CT;CT)
Significance Pathogenic
Disease Neurologic
Variation info
Gene PTRH2
CLNDBN Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset
Reversed 1
HGVS NC_000017.10:g.57775070_57775071delAG
CLNSRC OMIM Allelic Variant
CLNACC RCV000162246.3,