Source: GWASCAT ×
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: rs2126643
rs2126643
COL11A1
1 1.000 0.040 1 102938828 intron variant T/C snv 0.62 0.700 1.000 1 2018 2018
dbSNP: rs2622873
rs2622873
COL11A1
3 0.882 0.040 1 103000497 intron variant T/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs4338381
rs4338381
COL11A1
1 1.000 0.040 1 103107371 intron variant A/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs4979341
rs4979341 		2 0.925 0.040 9 114143263 intergenic variant C/T snv 0.22 0.700 1.000 1 2019 2019
dbSNP: rs1330349
rs1330349
TNC ; DELEC1
1 1.000 0.040 9 115078463 intron variant G/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs2480930
rs2480930
TNC ; DELEC1
1 1.000 0.040 9 115080028 intron variant A/G snv 0.59 0.700 1.000 1 2018 2018
dbSNP: rs4836732
rs4836732
ASTN2 ; ASTN2-AS1
2 1.000 0.040 9 116504416 intron variant C/T snv 0.49 0.700 1.000 2 2018 2019
dbSNP: rs13283416
rs13283416
ASTN2 ; ASTN2-AS1
2 1.000 0.040 9 116539328 intron variant T/G snv 0.41 0.700 1.000 1 2018 2018
dbSNP: rs34687269
rs34687269
ASTN2
1 1.000 0.040 9 116721853 intron variant A/T snv 0.47 0.700 1.000 1 2019 2019
dbSNP: rs11059094
rs11059094
MLXIP
1 1.000 0.040 12 122122290 intron variant C/T snv 0.51 0.700 1.000 1 2019 2019
dbSNP: rs4765540
rs4765540
RFLNA ; ZNF664-RFLNA
1 1.000 0.040 12 124315096 3 prime UTR variant C/A;G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs10760442
rs10760442
LMX1B
2 1.000 0.040 9 126621621 intron variant G/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs62578127
rs62578127
LMX1B
1 1.000 0.040 9 126624581 intron variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs143083812
rs143083812
SMO
1 1.000 0.040 7 129203569 missense variant C/T snv 4.1E-04 3.5E-04 0.710 1.000 1 2018 2018
dbSNP: rs4733724
rs4733724
GSDMC
2 1.000 0.040 8 129711482 intron variant A/G snv 0.40 0.700 1.000 1 2018 2018
dbSNP: rs60890741
rs60890741
GSDMC
1 1.000 0.040 8 129756257 intron variant -/A;AA delins 0.700 1.000 1 2019 2019
dbSNP: rs1913707
rs1913707 		2 0.925 0.040 4 13037816 intergenic variant A/G snv 0.40 0.700 1.000 1 2019 2019
dbSNP: rs11780978
rs11780978
PLEC
2 1.000 0.040 8 143960684 intron variant G/A snv 0.30 0.700 1.000 1 2018 2018
dbSNP: rs12040949
rs12040949
RPRD2
1 1.000 0.040 1 150474986 3 prime UTR variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs11732213
rs11732213
SLBP
2 0.925 0.040 4 1702517 intron variant T/C snv 0.16 0.700 1.000 1 2019 2019
dbSNP: rs3884606
rs3884606
FGF18
2 0.925 0.040 5 171444070 intron variant G/A snv 0.54 0.700 1.000 1 2019 2019
dbSNP: rs798748
rs798748
SLBP ; TACC3
1 1.000 0.040 4 1715043 intron variant T/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs62406718
rs62406718
BTNL8
2 0.925 0.040 5 180923167 intron variant A/C;G snv 0.74 0.700 1.000 1 2018 2018
dbSNP: rs302152
rs302152
HDAC9
1 1.000 0.040 7 18224045 intron variant A/T snv 0.61 0.700 1.000 1 2018 2018
dbSNP: rs11764536
rs11764536
HDAC9
1 1.000 0.040 7 18370370 intron variant A/C snv 1.4E-02 0.700 1.000 1 2018 2018