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

rs772701127

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common/normal
(C;T) 3 Carrier of a Charcot-Marie-Tooth disease mutation
(T;T) 5 Charcot-Marie-Tooth disease, type 2A (predicted)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position12007074
GeneMFN2
is asnp
is mentioned by
dbSNPrs772701127
dbSNP (classic)rs772701127
ClinGenrs772701127
ebirs772701127
HLIrs772701127
Exacrs772701127
Gnomadrs772701127
Varsomers772701127
LitVarrs772701127
Maprs772701127
PheGenIrs772701127
Biobankrs772701127
1000 genomesrs772701127
hgdprs772701127
ensemblrs772701127
geneviewrs772701127
scholarrs772701127
googlers772701127
pharmgkbrs772701127
gwascentralrs772701127
openSNPrs772701127
23andMers772701127
23andMe allrs772701127
SNPshotrs772701127
SNPdbers772701127
MSV3drs772701127
GWAS Ctlgrs772701127
Max Magnitude5

rs772701127, also known as c.1894C>T, p.Arg632Trp and R632W, represents a variant in the MFN2 gene on chromosome 1.

When inherited recessively, the rs772701127(T) variant is reported to lead to a relatively mild and late-onset form of Charcot-Marie-Tooth disease, type 2A.10.1038/s10038-017-0353-3