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

rs397514263

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397514263(C;T)
Make rs397514263(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position211383719
GeneERBB4
is asnp
is mentioned by
dbSNPrs397514263
dbSNP (classic)rs397514263
ClinGenrs397514263
ebirs397514263
HLIrs397514263
Exacrs397514263
Gnomadrs397514263
Varsomers397514263
LitVarrs397514263
Maprs397514263
PheGenIrs397514263
Biobankrs397514263
1000 genomesrs397514263
hgdprs397514263
ensemblrs397514263
geneviewrs397514263
scholarrs397514263
googlers397514263
pharmgkbrs397514263
gwascentralrs397514263
openSNPrs397514263
23andMers397514263
SNPshotrs397514263
SNPdbers397514263
MSV3drs397514263
GWAS Ctlgrs397514263
Max Magnitude0
ClinVar
Risk rs397514263(T;T)
Alt rs397514263(T;T)
Reference Rs397514263(C;C)
Significance Pathogenic
Disease not provided Amyotrophic lateral sclerosis 19
Variation info
Gene ERBB4
CLNDBN not provided Amyotrophic lateral sclerosis 19
Reversed 1
HGVS NC_000002.11:g.212248444G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000054813.1, RCV000074383.2,