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rs730880029

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs730880029(A;C)
Make rs730880029(C;C)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position219251266
GeneTUBA4A, TUBA4B
is asnp
is mentioned by
dbSNPrs730880029
ebirs730880029
HLIrs730880029
Exacrs730880029
Varsomers730880029
Maprs730880029
PheGenIrs730880029
hapmaprs730880029
1000 genomesrs730880029
hgdprs730880029
ensemblrs730880029
gopubmedrs730880029
geneviewrs730880029
scholarrs730880029
googlers730880029
pharmgkbrs730880029
gwascentralrs730880029
openSNPrs730880029
23andMers730880029
23andMe allrs730880029
SNP Nexus

SNPshotrs730880029
SNPdbers730880029
MSV3drs730880029
GWAS Ctlgrs730880029
Max Magnitude0
ClinVar
Risk rs730880029(C;C)
Alt rs730880029(C;C)
Reference rs730880029(A;A)
Significance Pathogenic
Disease Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia
Variation info
Gene TUBA4B TUBA4A
CLNDBN Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia
Reversed 1
HGVS NC_000002.11:g.220115988T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000157039.3,