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: rs10803588
rs10803588
MYO7B ; LOC105373609
2 2 127570800 intron variant C/T snv 0.37 0.700 1.000 1 2010 2010
dbSNP: rs10875492
rs10875492
TRPC4AP
2 20 35043604 intron variant C/T snv 0.58 0.700 1.000 1 2010 2010
dbSNP: rs10928772
rs10928772
MYO7B
2 2 127584028 intron variant T/G snv 0.35 0.700 1.000 1 2010 2010
dbSNP: rs11167260
rs11167260
PROCR ; MMP24-AS1-EDEM2
2 20 35187397 intron variant G/A snv 9.1E-02 0.700 1.000 1 2010 2010
dbSNP: rs1124511
rs1124511
EDEM2 ; MMP24-AS1-EDEM2
2 20 35148894 upstream gene variant A/C snv 0.48 0.700 1.000 1 2010 2010
dbSNP: rs1160297
rs1160297
LOC105369165
3 2 53010182 intergenic variant G/C snv 0.69 0.700 1.000 1 2007 2007
dbSNP: rs11679414
rs11679414
MAP3K2-DT
2 2 127393427 intron variant G/A snv 0.27 0.700 1.000 1 2010 2010
dbSNP: rs11680949
rs11680949
MAP3K2
2 2 127365986 intron variant C/G snv 0.25 0.700 1.000 1 2010 2010
dbSNP: rs11683427
rs11683427
CYP27C1
2 2 127198967 intron variant A/G snv 0.22 0.700 1.000 1 2010 2010
dbSNP: rs11683986
rs11683986
IWS1 ; LOC105373608
2 2 127438822 intron variant C/T snv 0.28 0.700 1.000 1 2010 2010
dbSNP: rs11691088
rs11691088
MAP3K2
2 2 127374277 non coding transcript exon variant A/G snv 0.27 0.700 1.000 1 2010 2010
dbSNP: rs11696652
rs11696652
TRPC4AP
2 20 35049257 intron variant T/G snv 0.19 0.700 1.000 1 2010 2010
dbSNP: rs11696967
rs11696967
MMP24-AS1-EDEM2
2 20 35155806 intergenic variant A/C snv 0.23 0.700 1.000 1 2010 2010
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: rs11890243
rs11890243
CYP27C1
2 2 127200465 intron variant C/A;G snv 0.74 0.700 1.000 1 2010 2010
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