Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397515326
rs397515326
Entrez Id: 3181
Gene Symbol: HNRNPA2B1
HNRNPA2B1
CUI: C3809468
Disease:
INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 2 		0.800 GeneticVariation UNIPROT Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS. 23455423 2013
dbSNP: rs397515326
rs397515326
Entrez Id: 3181
Gene Symbol: HNRNPA2B1
HNRNPA2B1
CUI: C3809468
Disease:
INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 2 		A 0.800 CausalMutation CLINVAR
dbSNP: rs397515326
rs397515326
Entrez Id: 3181
Gene Symbol: HNRNPA2B1
HNRNPA2B1
CUI: C0002736
Disease:
Amyotrophic Lateral Sclerosis 		0.010 GeneticVariation BEFREE ALS-associated hnRNP A2/B1 D290V mutant patient fibroblasts and motor neurons differentiated from induced pluripotent stem cells (iPSC-MNs) demonstrate abnormal splicing changes, likely due to increased nuclear-insoluble hnRNP A2/B1. 27773581 2016
dbSNP: rs749677236
rs749677236
Entrez Id: 3181
Gene Symbol: HNRNPA2B1
HNRNPA2B1
CUI: C0002736
Disease:
Amyotrophic Lateral Sclerosis 		0.010 GeneticVariation BEFREE We identified 1 heterozygous missense mutation, p.Ala72Thr (c.214G>A), in 1 patient with bulbar-onset and apparently sporadic ALS. 25771394 2015