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: rs10206899
rs10206899
ALMS1P1
3 2 73673773 intron variant T/C;G snv 0.21; 3.9E-05 0.700 1.000 1 2010 2010
dbSNP: rs10518733
rs10518733
WDR72
1 15 53648110 intron variant A/C;G snv 0.700 1.000 1 2010 2010
dbSNP: rs1933182
rs1933182 		3 1.000 0.080 1 109457216 intergenic variant A/C snv 0.63 0.700 1.000 1 2010 2010
dbSNP: rs3127573
rs3127573
SLC22A2
2 6 160260361 5 prime UTR variant A/G snv 0.12 0.700 1.000 1 2010 2010
dbSNP: rs4805834
rs4805834
CEP89
2 19 32962753 intron variant T/A;C snv 0.700 1.000 1 2010 2010
dbSNP: rs8068318
rs8068318
TBX2
6 17 61406405 non coding transcript exon variant C/T snv 0.56 0.700 1.000 1 2010 2010
dbSNP: rs9992101
rs9992101
SHROOM3
2 4 76439278 intron variant G/A snv 0.28 0.700 1.000 1 2010 2010
dbSNP: rs10262995
rs10262995
BBS9
1 7 33510429 intron variant C/T snv 9.1E-02 0.700 1.000 1 2015 2015
dbSNP: rs13317787
rs13317787
LMCD1-AS1
1 3 8100265 intron variant C/A snv 6.7E-02 0.700 1.000 1 2015 2015
dbSNP: rs2789047
rs2789047 		1 6 120868656 intergenic variant C/A;G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs10109414
rs10109414 		5 1.000 0.080 8 23893638 regulatory region variant C/T snv 0.37 0.700 1.000 2 2010 2016
dbSNP: rs10774021
rs10774021
SLC6A13
4 1.000 0.080 12 240132 intron variant C/T snv 0.57 0.700 1.000 2 2010 2016
dbSNP: rs10794720
rs10794720
WDR37
4 1.000 0.080 10 1110225 intron variant T/C snv 0.89 0.700 1.000 2 2010 2016
dbSNP: rs11959928
rs11959928
C9 ; DAB2
4 1.000 0.080 5 39397030 intron variant T/A snv 0.39 0.700 1.000 2 2010 2016
dbSNP: rs12460876
rs12460876
SLC7A9
4 1.000 0.080 19 32865985 intron variant T/C snv 0.36 0.700 1.000 2 2010 2016
dbSNP: rs1260326
rs1260326
GCKR
81 0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68 0.700 1.000 2 2010 2016
dbSNP: rs12917707
rs12917707
UMOD
11 0.827 0.200 16 20356368 upstream gene variant G/T snv 0.14 0.700 1.000 2 2010 2016
dbSNP: rs13538
rs13538
NAT8 ; ALMS1P1
5 1.000 0.080 2 73641201 missense variant A/G snv 0.21 0.31 0.700 1.000 2 2010 2016
dbSNP: rs1394125
rs1394125
UBE2Q2
7 0.882 0.200 15 75866642 intron variant G/A;T snv 0.700 1.000 2 2010 2016
dbSNP: rs17319721
rs17319721
SHROOM3
5 0.925 0.080 4 76447694 intron variant G/A snv 0.34 0.700 1.000 2 2010 2016
dbSNP: rs267734
rs267734 		7 0.925 0.120 1 150979001 upstream gene variant T/C snv 0.14 0.700 1.000 2 2010 2016
dbSNP: rs347685
rs347685
TFDP2
4 1.000 0.080 3 142088295 intron variant C/A snv 0.74 0.700 1.000 2 2010 2016
dbSNP: rs4014195
rs4014195 		7 0.882 0.200 11 65739351 intergenic variant C/G snv 0.31 0.700 1.000 2 2010 2016
dbSNP: rs4744712
rs4744712
PIP5K1B
4 1.000 0.080 9 68819791 intron variant A/C;T snv 0.700 1.000 2 2010 2016
dbSNP: rs491567
rs491567
WDR72
4 1.000 0.080 15 53654396 intron variant A/C snv 0.34 0.700 1.000 2 2010 2016