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rs387907035

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387907035(G;T)
Make rs387907035(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position104701676
GeneINF2
is asnp
is mentioned by
dbSNPrs387907035
dbSNP (classic)rs387907035
ClinGenrs387907035
ebirs387907035
HLIrs387907035
Exacrs387907035
Gnomadrs387907035
Varsomers387907035
LitVarrs387907035
Maprs387907035
PheGenIrs387907035
Biobankrs387907035
1000 genomesrs387907035
hgdprs387907035
ensemblrs387907035
geneviewrs387907035
scholarrs387907035
googlers387907035
pharmgkbrs387907035
gwascentralrs387907035
openSNPrs387907035
23andMers387907035
SNPshotrs387907035
SNPdbers387907035
MSV3drs387907035
GWAS Ctlgrs387907035
Max Magnitude0
ClinVar
Risk rs387907035(T;T)
Alt rs387907035(T;T)
Reference Rs387907035(G;G)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease
Variation info
Gene INF2
CLNDBN Charcot-Marie-Tooth disease, dominant intermediate E
Reversed 0
HGVS NC_000014.8:g.105168013G>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000023850.2,