rs80356730, TARDBP

N. diseases: 7
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder)
25 0.807 0.120 1 11022418 missense variant A/G snv 8.0E-06 0.800 1.000 22 2008 2017
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
1 0.807 0.120 1 11022418 missense variant A/G snv 8.0E-06 0.700 1.000 10 2008 2017
Amyotrophic Lateral Sclerosis
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
485 0.807 0.120 1 11022418 missense variant A/G snv 8.0E-06 0.060 1.000 6 2013 2019
Amyotrophic Lateral Sclerosis, Familial
68 0.807 0.120 1 11022418 missense variant A/G snv 8.0E-06 0.010 1.000 1 2014 2014
Developmental delay (disorder)
CUI: C0424605
Disease: Developmental delay (disorder)
68 0.807 0.120 1 11022418 missense variant A/G snv 8.0E-06 0.010 1.000 1 2011 2011
Frontotemporal dementia
CUI: C0338451
Disease: Frontotemporal dementia
215 0.807 0.120 1 11022418 missense variant A/G snv 8.0E-06 0.010 1.000 1 2013 2013
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.807 0.120 1 11022418 missense variant A/G snv 8.0E-06 0.010 1.000 1 2011 2011