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rs864309504

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs864309504(C;T)
Make rs864309504(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome22
Position30949809
GeneMORC2
is asnp
is mentioned by
dbSNPrs864309504
dbSNP (classic)rs864309504
ClinGenrs864309504
ebirs864309504
HLIrs864309504
Exacrs864309504
Gnomadrs864309504
Varsomers864309504
LitVarrs864309504
Maprs864309504
PheGenIrs864309504
Biobankrs864309504
1000 genomesrs864309504
hgdprs864309504
ensemblrs864309504
geneviewrs864309504
scholarrs864309504
googlers864309504
pharmgkbrs864309504
gwascentralrs864309504
openSNPrs864309504
23andMers864309504
SNPshotrs864309504
SNPdbers864309504
MSV3drs864309504
GWAS Ctlgrs864309504
Max Magnitude0
ClinVar
Risk rs864309504(T;T)
Alt rs864309504(T;T)
Reference Rs864309504(C;C)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease
Variation info
Gene MORC2
CLNDBN Charcot-Marie-Tooth disease, axonal, type 2z
Reversed 1
HGVS NC_000022.10:g.31345795G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000202460.4,