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: rs11699306
rs11699306
PROCR ; MMP24OS ; MMP24-AS1-EDEM2
2 20 35213480 intron variant T/C snv 0.10 0.700 1.000 1 2010 2010
dbSNP: rs11700080
rs11700080
ITCH
2 20 34458956 intron variant A/C;G snv 0.700 1.000 1 2010 2010
dbSNP: rs1178977
rs1178977
BAZ1B
7 0.925 0.120 7 73442719 splice region variant A/G snv 0.16 0.21 0.700 1.000 1 2010 2010
dbSNP: rs1178979
rs1178979
BAZ1B
6 0.925 0.120 7 73442100 3 prime UTR variant T/C snv 0.21 0.800 1.000 2 2010 2017
dbSNP: rs11890243
rs11890243
CYP27C1
2 2 127200465 intron variant C/A;G snv 0.74 0.700 1.000 1 2010 2010
dbSNP: rs11906160
rs11906160
MYH7B
2 20 34977952 missense variant G/A;T snv 0.12 0.16 0.800 1.000 2 2010 2011
dbSNP: rs11906318
rs11906318
EDEM2 ; MMP24-AS1-EDEM2
2 20 35141639 intron variant A/C;T snv 0.700 1.000 1 2010 2010
dbSNP: rs11907010
rs11907010
MMP24-AS1-EDEM2
2 20 35149858 upstream gene variant C/T snv 8.8E-02 0.700 1.000 1 2010 2010
dbSNP: rs11907022
rs11907022
NFS1
2 20 35695704 intron variant A/G snv 0.10 0.700 1.000 1 2010 2010
dbSNP: rs11908470
rs11908470
SCAND1 ; CNBD2
2 20 35957141 intron variant A/G snv 8.2E-02 0.700 1.000 1 2010 2010
dbSNP: rs11908683
rs11908683
EDEM2 ; MMP24-AS1-EDEM2
2 20 35133117 intron variant T/C snv 9.1E-02 0.700 1.000 1 2010 2010
dbSNP: rs11983997
rs11983997 		5 0.925 0.120 7 73524914 upstream gene variant G/A;C snv 0.700 1.000 1 2010 2010
dbSNP: rs1205349
rs1205349
AHCY
2 20 34311868 upstream gene variant G/C snv 0.72 0.700 1.000 1 2010 2010
dbSNP: rs1205350
rs1205350
AHCY
2 20 34310533 intron variant G/A snv 0.76 0.700 1.000 1 2010 2010
dbSNP: rs1205357
rs1205357
AHCY
2 20 34289960 intron variant C/T snv 0.70 0.700 1.000 1 2010 2010
dbSNP: rs12465955
rs12465955 		2 2 127249498 non coding transcript exon variant A/G;T snv 0.700 1.000 1 2010 2010
dbSNP: rs12467476
rs12467476
ZNF512
5 0.925 0.120 2 27602848 intron variant T/C snv 0.23 0.700 1.000 1 2010 2010
dbSNP: rs12468304
rs12468304
IWS1 ; LOC105373608
2 2 127436236 3 prime UTR variant C/T snv 0.43 0.700 1.000 1 2010 2010
dbSNP: rs12477670
rs12477670
MYO7B
2 2 127576951 intron variant A/C;G snv 0.700 1.000 1 2010 2010
dbSNP: rs12478841
rs12478841
ZNF512
5 0.925 0.120 2 27588855 intron variant A/G snv 0.27 0.700 1.000 1 2010 2010
dbSNP: rs12479003
rs12479003
MAP3K2
2 2 127360977 intron variant C/T snv 0.35 0.700 1.000 1 2010 2010
dbSNP: rs12479765
rs12479765
MMP24 ; MMP24OS ; MMP24-AS1-EDEM2
2 20 35237575 intron variant G/A snv 0.17 0.700 1.000 1 2010 2010
dbSNP: rs12480555
rs12480555
ASIP
2 20 34196688 intron variant A/G snv 0.11 0.700 1.000 1 2010 2010
dbSNP: rs1260326
rs1260326
GCKR
81 0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68 0.800 1.000 2 2010 2017
dbSNP: rs1260333
rs1260333 		12 0.882 0.160 2 27525757 downstream gene variant A/G snv 0.58 0.700 1.000 1 2010 2010