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rs781249411

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs781249411(A;A)
Make rs781249411(A;C)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position57515926
GeneMARS
is asnp
is mentioned by
dbSNPrs781249411
ebirs781249411
HLIrs781249411
Exacrs781249411
Varsomers781249411
Maprs781249411
PheGenIrs781249411
hapmaprs781249411
1000 genomesrs781249411
hgdprs781249411
ensemblrs781249411
gopubmedrs781249411
geneviewrs781249411
scholarrs781249411
googlers781249411
pharmgkbrs781249411
gwascentralrs781249411
openSNPrs781249411
23andMers781249411
23andMe allrs781249411
SNP Nexus

SNPshotrs781249411
SNPdbers781249411
MSV3drs781249411
GWAS Ctlgrs781249411
Max Magnitude0
ClinVar
Risk rs781249411(A;A)
Alt rs781249411(A;A)
Reference rs781249411(C;C)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease
Variation info
Gene MARS
CLNDBN Charcot-Marie-Tooth disease, axonal, type 2u Charcot-Marie-Tooth disease
Reversed 0
HGVS NC_000012.11:g.57909709C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000167578.3, RCV000192268.1,