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: rs7775
rs7775
FRZB
14 0.732 0.240 2 182834857 missense variant G/A;C;T snv 8.0E-05; 8.0E-02; 5.6E-05 0.030 1.000 3 2004 2009
dbSNP: rs12885300
rs12885300
DIO2 ; DIO2-AS1
7 0.790 0.200 14 80211923 5 prime UTR variant C/A;G;T snv 0.020 1.000 2 2008 2011
dbSNP: rs12901372
rs12901372
SMAD3
1 1.000 0.040 15 67078168 intron variant C/A;G snv 0.700 1.000 2 2018 2019
dbSNP: rs2521349
rs2521349
MAP2K6
2 0.925 0.040 17 69507360 intron variant G/A;T snv 0.700 1.000 2 2018 2018
dbSNP: rs2820436
rs2820436
LYPLAL1-AS1
4 0.882 0.040 1 219467338 intergenic variant A/C;G snv 0.700 1.000 2 2018 2018
dbSNP: rs10116772
rs10116772
GLIS3
4 0.882 0.080 9 4290541 intron variant C/A;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: rs11456119
rs11456119
DYNC1I1
2 0.925 0.040 7 96089185 intron variant A/-;AA;AAA delins 0.700 1.000 1 2019 2019
dbSNP: rs11718863
rs11718863
COL6A4P1
3 0.882 0.080 3 15175196 non coding transcript exon variant A/G;T snv 0.21 0.010 1.000 1 2009 2009
dbSNP: rs11997261
rs11997261 		2 0.925 0.040 8 8666851 intron variant T/C;G snv 0.700 1.000 1 2019 2019
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: rs12885713
rs12885713
CALM1
5 0.827 0.200 14 90397013 intron variant C/A;G;T snv 0.010 < 0.001 1 2008 2008
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: rs17524488
rs17524488
SPP1
4 0.925 0.040 4 87975555 non coding transcript exon variant -/G delins 0.010 1.000 1 2015 2015
dbSNP: rs200975846
rs200975846
CCDC33
2 0.925 0.040 15 74325252 intron variant T/- delins 0.700 1.000 1 2019 2019
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: rs2707466
rs2707466
WNT16
2 1.000 0.040 7 121339035 missense variant C/G;T snv 0.44 0.010 1.000 1 2017 2017
dbSNP: rs4144502
rs4144502
CRADD
2 0.925 0.040 12 93787552 intron variant G/A;C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs4338381
rs4338381
COL11A1
2 1.000 0.040 1 103107371 intron variant A/C;G snv 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: rs5009270
rs5009270 		1 1.000 0.040 7 112519123 upstream gene variant G/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs547181612
rs547181612
UQCC1
2 0.925 0.040 20 35371345 intron variant T/-;TT;TTT;TTTT delins 0.700 1.000 1 2019 2019
dbSNP: rs60890741
rs60890741
GSDMC
1 1.000 0.040 8 129756257 intron variant -/A;AA delins 0.700 1.000 1 2019 2019
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: rs678
rs678
ITIH1
2 1.000 0.040 3 52786965 missense variant A/G;T snv 0.36 0.700 1.000 1 2018 2018