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rs763492075

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs763492075(C;C)
Make rs763492075(C;G)
ReferenceGRCh38.p2 38.2/147
Chromosome1
Position12007126
GeneMFN2
is asnp
is mentioned by
dbSNPrs763492075
ebirs763492075
HLIrs763492075
Exacrs763492075
Varsomers763492075
Maprs763492075
PheGenIrs763492075
hapmaprs763492075
1000 genomesrs763492075
hgdprs763492075
ensemblrs763492075
gopubmedrs763492075
geneviewrs763492075
scholarrs763492075
googlers763492075
pharmgkbrs763492075
gwascentralrs763492075
openSNPrs763492075
23andMers763492075
23andMe allrs763492075
SNP Nexus

SNPshotrs763492075
SNPdbers763492075
MSV3drs763492075
GWAS Ctlgrs763492075
Max Magnitude0
ClinVar
Risk rs763492075(A,C,T;A,C,T)
Alt rs763492075(A,C,T;A,C,T)
Reference rs763492075(G;G)
Significance Probable-Pathogenic
Disease Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease
Variation info
Gene MFN2
CLNDBN Charcot-Marie-Tooth disease, type 2 Charcot-Marie-Tooth disease, type 2A2
Reversed 0
HGVS NC_000001.10:g.12067183G>A; NC_000001.10:g.12067183G>C
CLNSRC
CLNACC RCV000233537.1, RCV000235085.1,