Source: BEFREE ×
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1799958
rs1799958
ACADS
2 0.882 0.160 12 120738280 missense variant G/A snv 0.26 0.21 0.010 1.000 1 2005 2005
dbSNP: rs1800470
rs1800470
TGFB1
106 0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 0.010 1.000 1 2016 2016
dbSNP: rs2285094
rs2285094
PDGFB
1 1.000 0.080 22 39226555 intron variant T/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs387906951
rs387906951
ACADS
1 1.000 0.080 12 120737098 missense variant G/A snv 0.010 1.000 1 2010 2010
dbSNP: rs6999447
rs6999447
LOXL2
1 1.000 0.080 8 23368501 intron variant C/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs9349379
rs9349379
PHACTR1
15 0.732 0.200 6 12903725 intron variant A/G snv 0.32 0.010 1.000 1 2019 2019