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rs773159585

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs773159585(C;T)
Make rs773159585(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position11998877
GeneMFN2
is asnp
is mentioned by
dbSNPrs773159585
dbSNP (classic)rs773159585
ClinGenrs773159585
ebirs773159585
HLIrs773159585
Exacrs773159585
Gnomadrs773159585
Varsomers773159585
LitVarrs773159585
Maprs773159585
PheGenIrs773159585
Biobankrs773159585
1000 genomesrs773159585
hgdprs773159585
ensemblrs773159585
geneviewrs773159585
scholarrs773159585
googlers773159585
pharmgkbrs773159585
gwascentralrs773159585
openSNPrs773159585
23andMers773159585
SNPshotrs773159585
SNPdbers773159585
MSV3drs773159585
GWAS Ctlgrs773159585
Max Magnitude0
ClinVar
Risk rs773159585(T;T)
Alt rs773159585(T;T)
Reference Rs773159585(C;C)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease Distal lower limb amyotrophy Distal muscle weakness Peripheral axonal neuropathy Charcot-Marie-Tooth disease
Variation info
Gene MFN2
CLNDBN Charcot-Marie-Tooth disease, type 2A2 Distal lower limb amyotrophy Distal muscle weakness Peripheral axonal neuropathy Charcot-Marie-Tooth disease, type 2
Reversed 0
HGVS NC_000001.10:g.12058934C>T
CLNSRC Quest Diagnostics
CLNACC RCV000201150.1, RCV000414991.1, RCV000470638.1,