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: rs1409340420
rs1409340420
BCL2L1 ; ABALON
1.000 0.080 20 31722126 synonymous variant T/C snv 7.0E-06
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.010 1.000 1 2012 2012
dbSNP: rs1484994
rs1484994
BCL2L1
1.000 0.080 20 31718172 intron variant A/G snv 0.38
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		0.010 1.000 1 2015 2015
dbSNP: rs6060627
rs6060627
BCL2L1
20 31674356 intron variant C/T snv 0.41
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 < 0.001 1 2017 2017
dbSNP: rs6060627
rs6060627
BCL2L1
20 31674356 intron variant C/T snv 0.41
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 < 0.001 1 2017 2017
dbSNP: rs780912099
rs780912099
BCL2L1 ; ABALON
1.000 0.080 20 31721806 missense variant C/G snv 4.0E-06
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.010 1.000 1 2012 2012