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

rs13422

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs13422(A;C)
Make rs13422(C;C)
ReferenceGRCh38.p2 38.2/147
Chromosome17
Position15230858
GenePMP22
is asnp
is mentioned by
dbSNPrs13422
dbSNP (classic)rs13422
ClinGenrs13422
ebirs13422
HLIrs13422
Exacrs13422
Gnomadrs13422
Varsomers13422
LitVarrs13422
Maprs13422
PheGenIrs13422
Biobankrs13422
1000 genomesrs13422
hgdprs13422
ensemblrs13422
geneviewrs13422
scholarrs13422
googlers13422
pharmgkbrs13422
gwascentralrs13422
openSNPrs13422
23andMers13422
SNPshotrs13422
SNPdbers13422
MSV3drs13422
GWAS Ctlgrs13422
Max Magnitude0
? (A;A) (A;C) (C;C) 28


[PMID 27623071OA-icon.png] SP110 and PMP22 polymorphisms are associated with tuberculosis risk in a Chinese-Tibetan population.


ClinVar
Risk rs13422(C;C)
Alt rs13422(C;C)
Reference Rs13422(A;A)
Significance Non-pathogenic
Disease Hereditary liability to pressure palsies Charcot-Marie-Tooth
Variation info
Gene PMP22
CLNDBN Hereditary liability to pressure palsies Charcot-Marie-Tooth, Type 1
Reversed 1
HGVS NC_000017.10:g.15134175T>G
CLNSRC
CLNACC RCV000330964.1, RCV000355581.1,