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rs119103262

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs119103262(C;G)
Make rs119103262(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position11997315
GeneMFN2
is asnp
is mentioned by
dbSNPrs119103262
dbSNP (classic)rs119103262
ClinGenrs119103262
ebirs119103262
HLIrs119103262
Exacrs119103262
Gnomadrs119103262
Varsomers119103262
LitVarrs119103262
Maprs119103262
PheGenIrs119103262
Biobankrs119103262
1000 genomesrs119103262
hgdprs119103262
ensemblrs119103262
geneviewrs119103262
scholarrs119103262
googlers119103262
pharmgkbrs119103262
gwascentralrs119103262
openSNPrs119103262
23andMers119103262
SNPshotrs119103262
SNPdbers119103262
MSV3drs119103262
GWAS Ctlgrs119103262
Max Magnitude0
OMIM608507
Desc
Variant0008
Relatedalso
ClinVar
Risk rs119103262(G;G)
Alt rs119103262(G;G)
Reference Rs119103262(C;C)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease
Variation info
Gene MFN2
CLNDBN Charcot-Marie-Tooth disease, type 2A2
Reversed 0
HGVS NC_000001.10:g.12057372C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000002363.5,