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

rs1060503672

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060503672(A;A)
Make rs1060503672(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position201746749
GeneALS2
is asnp
is mentioned by
dbSNPrs1060503672
dbSNP (old)rs1060503672
ClinGenrs1060503672
ebirs1060503672
HLIrs1060503672
Exacrs1060503672
Gnomadrs1060503672
Varsomers1060503672
LitVarrs1060503672
Maprs1060503672
PheGenIrs1060503672
Biobankrs1060503672
1000 genomesrs1060503672
hgdprs1060503672
ensemblrs1060503672
gopubmedrs1060503672
geneviewrs1060503672
scholarrs1060503672
googlers1060503672
pharmgkbrs1060503672
gwascentralrs1060503672
openSNPrs1060503672
23andMers1060503672
23andMe allrs1060503672
SNPshotrs1060503672
SNPdbers1060503672
MSV3drs1060503672
GWAS Ctlgrs1060503672
Max Magnitude0
ClinVar
Risk rs1060503672(A;A)
Alt rs1060503672(A;A)
Reference Rs1060503672(G;G)
Significance Probable-Pathogenic
Disease Infantile-onset ascending hereditary spastic paralysis
Variation info
Gene ALS2
CLNDBN Infantile-onset ascending hereditary spastic paralysis
Reversed 1
HGVS NC_000002.11:g.202611472C>T
CLNSRC
CLNACC RCV000457236.1,