Source: ALL
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: rs113993970
rs113993970
HTRA1
5 0.925 0.240 10 122506817 stop gained C/T snv 8.0E-06 3.5E-05 0.700 0
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs12204590
rs12204590
LINC01394 ; LOC112267978
3 1.000 0.080 6 1337158 intergenic variant T/A snv 0.14 0.010 1.000 1 2016 2016
dbSNP: rs1386253973
rs1386253973
POTEF
1 2 130102137 synonymous variant G/A snv 0.010 1.000 1 2008 2008
dbSNP: rs2222823
rs2222823
MYLK
4 0.925 0.080 3 123885940 upstream gene variant T/A snv 0.14 0.010 1.000 1 2012 2012
dbSNP: rs2811712
rs2811712
CDKN2B-AS1
5 0.882 0.080 9 21998036 intron variant G/A snv 0.85 0.010 1.000 1 2012 2012