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: rs1403083560
rs1403083560
PRKAB1 ; LOC105370027
1.000 0.080 12 119668337 synonymous variant G/A;T snv 4.0E-06
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.020 1.000 2 2018 2018
dbSNP: rs1177928762
rs1177928762
PRKAB1
1.000 0.080 12 119674440 missense variant G/C snv 4.0E-06
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.010 1.000 1 2016 2016