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rs267606842

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs267606842(A;T)
Make rs267606842(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position74363037
GeneGDAP1
is asnp
is mentioned by
dbSNPrs267606842
dbSNP (classic)rs267606842
ClinGenrs267606842
ebirs267606842
HLIrs267606842
Exacrs267606842
Gnomadrs267606842
Varsomers267606842
LitVarrs267606842
Maprs267606842
PheGenIrs267606842
Biobankrs267606842
1000 genomesrs267606842
hgdprs267606842
ensemblrs267606842
geneviewrs267606842
scholarrs267606842
googlers267606842
pharmgkbrs267606842
gwascentralrs267606842
openSNPrs267606842
23andMers267606842
SNPshotrs267606842
SNPdbers267606842
MSV3drs267606842
GWAS Ctlgrs267606842
Max Magnitude0
ClinVar
Risk rs267606842(T;T)
Alt rs267606842(T;T)
Reference Rs267606842(A;A)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease type 2K
Variation info
Gene GDAP1
CLNDBN Charcot-Marie-Tooth disease type 2K
Reversed 0
HGVS NC_000008.10:g.75275272A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004424.3,