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rs387907038

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs387907038(G;G)
Make rs387907038(G;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position104703108
GeneINF2
is asnp
is mentioned by
dbSNPrs387907038
ebirs387907038
HLIrs387907038
Exacrs387907038
Varsomers387907038
Maprs387907038
PheGenIrs387907038
hapmaprs387907038
1000 genomesrs387907038
hgdprs387907038
ensemblrs387907038
gopubmedrs387907038
geneviewrs387907038
scholarrs387907038
googlers387907038
pharmgkbrs387907038
gwascentralrs387907038
openSNPrs387907038
23andMers387907038
23andMe allrs387907038
SNP Nexus

SNPshotrs387907038
SNPdbers387907038
MSV3drs387907038
GWAS Ctlgrs387907038
Max Magnitude0
ClinVar
Risk rs387907038(G;G)
Alt rs387907038(G;G)
Reference rs387907038(T;T)
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.105169445T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000023853.3,