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: rs3815148
rs3815148
COG5
1 1.000 0.040 7 107297975 intron variant A/C snv 0.20 0.810 1.000 1 2010 2010
dbSNP: rs4730250
rs4730250
DUS4L
1 1.000 0.040 7 107567250 intron variant A/G snv 0.12 0.810 1.000 1 2011 2011
dbSNP: rs10948172
rs10948172
SUPT3H ; LOC101929770
3 0.882 0.040 6 44809954 intron variant A/G snv 0.27 0.800 1.000 1 2012 2012
dbSNP: rs11177
rs11177
GNL3 ; PBRM1 ; SNORD19 ; SNORD136
4 0.851 0.080 3 52687289 missense variant G/A snv 0.38 0.33 0.800 1.000 1 2012 2012
dbSNP: rs1417066
rs1417066
LYPLAL1-AS1 ; LOC107985272
1 1.000 0.040 1 219500486 intergenic variant G/A snv 0.43 0.800 1.000 1 2012 2012
dbSNP: rs532464664
rs532464664
CHADL
3 0.882 0.040 22 41238083 frameshift variant -/GCCCGCGC delins 4.8E-03 1.2E-02 0.710 1.000 1 2017 2017
dbSNP: rs10172410
rs10172410
ITGA4
1 1.000 0.040 2 181487841 intron variant T/C snv 0.45 0.700 1.000 1 2011 2011
dbSNP: rs10218792
rs10218792
KIF26B
1 1.000 0.040 1 245587630 intron variant T/G snv 0.26 0.700 1.000 1 2019 2019
dbSNP: rs1034762
rs1034762
COL2A1
1 1.000 0.040 12 47995860 intron variant A/C snv 0.74 0.79 0.700 1.000 1 2012 2012
dbSNP: rs10502437
rs10502437
TMEM241
1 1.000 0.040 18 23390742 intron variant G/A snv 0.30 0.700 1.000 1 2019 2019
dbSNP: rs10654220
rs10654220
MPHOSPH9
2 1.000 0.040 12 123218875 intron variant -/TGT;TGTTGT delins 0.700 1.000 1 2019 2019
dbSNP: rs10948155
rs10948155 		1 1.000 0.040 6 44720220 intergenic variant T/C snv 0.30 0.700 1.000 1 2012 2012
dbSNP: rs10974438
rs10974438
GLIS3
3 0.925 0.120 9 4291928 intron variant A/C snv 0.29 0.700 1.000 1 2019 2019
dbSNP: rs11031191
rs11031191
LOC101928338
1 1.000 0.040 11 30752733 intergenic variant G/C;T snv 0.27 0.700 1.000 1 2019 2019
dbSNP: rs11107957
rs11107957
NAV3
1 1.000 0.040 12 78038275 intron variant A/C snv 0.20 0.700 1.000 1 2012 2012
dbSNP: rs1126464
rs1126464
DPEP1
4 1.000 0.040 16 89637957 missense variant G/A;C snv 1.3E-05; 0.26 0.700 1.000 1 2019 2019
dbSNP: rs11409738
rs11409738
DYNC1I1
1 1.000 0.040 7 96090522 intron variant A/-;AA;AAA;AAAA delins 0.700 1.000 1 2019 2019
dbSNP: rs1149620
rs1149620
TSKU
1 1.000 0.040 11 76795528 intron variant T/A snv 0.50 0.700 1.000 1 2019 2019
dbSNP: rs115740542
rs115740542
H2AC6 ; H2BC4
2 0.925 0.040 6 26123274 intron variant T/C snv 3.6E-02 0.700 1.000 1 2019 2019
dbSNP: rs12154055
rs12154055 		1 1.000 0.040 6 44481960 intergenic variant G/A snv 0.27 0.700 1.000 1 2019 2019
dbSNP: rs12618428
rs12618428 		1 1.000 0.040 2 150876465 regulatory region variant A/G snv 0.14 0.700 1.000 1 2012 2012
dbSNP: rs12901404
rs12901404
RYR3
1 1.000 0.040 15 33783099 intron variant T/C snv 0.16 0.700 1.000 1 2009 2009
dbSNP: rs12923310
rs12923310 		1 1.000 0.040 16 9694080 intergenic variant G/T snv 0.32 0.700 1.000 1 2012 2012
dbSNP: rs13107325
rs13107325
SLC39A8
34 0.776 0.520 4 102267552 missense variant C/A;T snv 4.0E-06; 4.5E-02 0.700 1.000 1 2019 2019
dbSNP: rs1355782
rs1355782
CPNE4
1 1.000 0.040 3 131768822 intron variant T/C;G snv 0.700 1.000 1 2012 2012