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: rs17310467
rs17310467
GSS ; MYH7B
2 20 34957813 intron variant A/G;T snv 0.800 1.000 2 2010 2012
dbSNP: rs4321325
rs4321325
CYP27C1
2 2 127193421 intron variant C/T snv 0.17 0.800 1.000 2 2010 2014
dbSNP: rs1011019
rs1011019
ERCC3
2 2 127279984 intron variant A/G;T snv 0.75 0.700 1.000 1 2010 2010
dbSNP: rs1018503
rs1018503
NCOA6
2 20 34737712 intron variant T/A;G snv 0.700 1.000 1 2010 2010
dbSNP: rs1019842
rs1019842
MYO7B
2 2 127547621 intron variant T/C snv 0.86 0.700 1.000 1 2010 2010
dbSNP: rs10208529
rs10208529
C2orf16
5 0.925 0.120 2 27563321 intron variant A/T snv 0.28 0.700 1.000 1 2010 2010
dbSNP: rs1033797
rs1033797
EDEM2 ; MMP24-AS1-EDEM2
2 20 35131884 intron variant T/C snv 0.27 0.700 1.000 1 2010 2010
dbSNP: rs1033799
rs1033799
EDEM2 ; MMP24-AS1-EDEM2
2 20 35132230 intron variant C/A snv 0.17 0.700 1.000 1 2010 2010
dbSNP: rs10485505
rs10485505
ITCH
3 1.000 0.080 20 34437762 intron variant C/G;T snv 0.700 1.000 1 2010 2010
dbSNP: rs10485508
rs10485508
TRPC4AP
2 20 35017295 intron variant C/T snv 8.0E-02 0.700 1.000 1 2010 2010
dbSNP: rs10496661
rs10496661
MAP3K2
2 2 127332568 intron variant G/T snv 0.24 0.700 1.000 1 2010 2010
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: 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: rs11696652
rs11696652
TRPC4AP
2 20 35049257 intron variant T/G snv 0.19 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: 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: rs11907022
rs11907022
NFS1
2 20 35695704 intron variant A/G snv 0.10 0.700 1.000 1 2010 2010