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rs104894619

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894619(C;T)
Make rs104894619(T;T)
ReferenceGRCh38 38.1/142
Chromosome17
Position15231047
GenePMP22
is asnp
is mentioned by
dbSNPrs104894619
ebirs104894619
HLIrs104894619
Exacrs104894619
Varsomers104894619
Maprs104894619
PheGenIrs104894619
hapmaprs104894619
1000 genomesrs104894619
hgdprs104894619
ensemblrs104894619
gopubmedrs104894619
geneviewrs104894619
scholarrs104894619
googlers104894619
pharmgkbrs104894619
gwascentralrs104894619
openSNPrs104894619
23andMers104894619
23andMe allrs104894619
SNP Nexus

SNPshotrs104894619
SNPdbers104894619
MSV3drs104894619
GWAS Ctlgrs104894619
GMAF0.002296
Max Magnitude0
OMIM601097
Desc
Variant0005
Relatedalso
ClinVar
Risk rs104894619(T;T)
Alt rs104894619(T;T)
Reference rs104894619(C;C)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease Hereditary liability to pressure palsies Charcot-Marie-Tooth disease not specified Charcot-Marie-Tooth disease not provided
Variation info
Gene PMP22
CLNDBN Charcot-Marie-Tooth disease, type 1a, autosomal recessive Hereditary liability to pressure palsies Charcot-Marie-Tooth disease, type IA not specified Charcot-Marie-Tooth disease, type I not provided
Reversed 1
HGVS NC_000017.10:g.15134364G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000008945.3, RCV000008946.4, RCV000032119.1, RCV000194789.1, RCV000197572.1, RCV000224441.1,