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

rs119103261

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs119103261(C;C)
Make rs119103261(C;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position12002014
GeneMFN2
is asnp
is mentioned by
dbSNPrs119103261
dbSNP (classic)rs119103261
ClinGenrs119103261
ebirs119103261
HLIrs119103261
Exacrs119103261
Gnomadrs119103261
Varsomers119103261
LitVarrs119103261
Maprs119103261
PheGenIrs119103261
Biobankrs119103261
1000 genomesrs119103261
hgdprs119103261
ensemblrs119103261
geneviewrs119103261
scholarrs119103261
googlers119103261
pharmgkbrs119103261
gwascentralrs119103261
openSNPrs119103261
23andMers119103261
SNPshotrs119103261
SNPdbers119103261
MSV3drs119103261
GWAS Ctlgrs119103261
Max Magnitude0
OMIM608507
Desc
Variant0007
Relatedalso
ClinVar
Risk rs119103261(C;C)
Alt rs119103261(C;C)
Reference Rs119103261(G;G)
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.12062071G>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000002362.3,