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rs28937906

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs28937906(C;T)
Make rs28937906(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position74364134
GeneGDAP1
is asnp
is mentioned by
dbSNPrs28937906
ebirs28937906
HLIrs28937906
Exacrs28937906
Varsomers28937906
Maprs28937906
PheGenIrs28937906
hapmaprs28937906
1000 genomesrs28937906
hgdprs28937906
ensemblrs28937906
gopubmedrs28937906
geneviewrs28937906
scholarrs28937906
googlers28937906
pharmgkbrs28937906
gwascentralrs28937906
openSNPrs28937906
23andMers28937906
23andMe allrs28937906
SNP Nexus

SNPshotrs28937906
SNPdbers28937906
MSV3drs28937906
GWAS Ctlgrs28937906
Max Magnitude0
OMIM606598
DescCHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE A
Variant0006
Relatedalso


ClinVar
Risk rs28937906(T;T)
Alt rs28937906(T;T)
Reference rs28937906(C;C)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease not provided
Variation info
Gene GDAP1
CLNDBN Charcot-Marie-Tooth disease, recessive intermediate A not provided
Reversed 0
HGVS NC_000008.10:g.75276369C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004415.2, RCV000235864.1,