Have questions? Visit https://www.reddit.com/r/SNPedia

rs730880026

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs730880026(A;A)
Make rs730880026(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position219250740
GeneSTK16, TUBA4A
is asnp
is mentioned by
dbSNPrs730880026
dbSNP (classic)rs730880026
ClinGenrs730880026
ebirs730880026
HLIrs730880026
Exacrs730880026
Gnomadrs730880026
Varsomers730880026
LitVarrs730880026
Maprs730880026
PheGenIrs730880026
Biobankrs730880026
1000 genomesrs730880026
hgdprs730880026
ensemblrs730880026
geneviewrs730880026
scholarrs730880026
googlers730880026
pharmgkbrs730880026
gwascentralrs730880026
openSNPrs730880026
23andMers730880026
SNPshotrs730880026
SNPdbers730880026
MSV3drs730880026
GWAS Ctlgrs730880026
Max Magnitude0
ClinVar
Risk rs730880026(A;A)
Alt rs730880026(A;A)
Reference Rs730880026(G;G)
Significance Pathogenic
Disease Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia
Variation info
Gene STK16 TUBA4A
CLNDBN Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia
Reversed 1
HGVS NC_000002.11:g.220115462C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000157035.3,