Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs751228176
rs751228176
0.925 0.080 17 7579971 missense variant A/G snv 4.0E-06
Amyotrophic Lateral Sclerosis, Familial
0.010 1.000 1 2011 2011
dbSNP: rs751228176
rs751228176
0.925 0.080 17 7579971 missense variant A/G snv 4.0E-06
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1
0.010 1.000 1 2011 2011
dbSNP: rs9901675
rs9901675
17 7581494 missense variant G/A snv 5.4E-02 5.5E-02
CUI: C0023015
Disease: Language Disorders
Language Disorders
0.010 1.000 1 2016 2016