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: rs1260326
rs1260326
GCKR
81 0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68 0.800 1.000 6 2013 2019
dbSNP: rs3741414
rs3741414
INHBC
7 0.925 0.120 12 57450266 3 prime UTR variant C/T snv 0.19 0.800 1.000 3 2012 2019
dbSNP: rs12917707
rs12917707
UMOD
11 0.827 0.200 16 20356368 upstream gene variant G/T snv 0.14 0.800 1.000 2 2013 2016
dbSNP: rs13538
rs13538
NAT8 ; ALMS1P1
5 1.000 0.080 2 73641201 missense variant A/G snv 0.21 0.31 0.800 1.000 2 2013 2016
dbSNP: rs17319721
rs17319721
SHROOM3
5 0.925 0.080 4 76447694 intron variant G/A snv 0.34 0.800 1.000 2 2013 2016
dbSNP: rs6420094
rs6420094
SLC34A1
5 1.000 0.080 5 177390635 intron variant A/G snv 0.29 0.800 1.000 2 2013 2016
dbSNP: rs7208487
rs7208487
FBXL20
4 0.925 0.080 17 39387196 intron variant T/A;G snv 0.800 1.000 2 2012 2016
dbSNP: rs10032549
rs10032549
SHROOM3
1 4 76476862 intron variant A/G snv 0.43 0.800 1.000 1 2013 2013
dbSNP: rs10206899
rs10206899
ALMS1P1
3 2 73673773 intron variant T/C;G snv 0.21; 3.9E-05 0.800 1.000 1 2013 2013
dbSNP: rs17536527
rs17536527 		1 15 45426989 upstream gene variant G/A;C snv 0.800 1.000 1 2013 2013
dbSNP: rs4859682
rs4859682
SHROOM3
2 4 76489165 intron variant C/A snv 0.33 0.800 1.000 1 2013 2013
dbSNP: rs6066043
rs6066043
SLC13A3
3 1.000 0.080 20 46659814 intron variant G/A;T snv 0.800 1.000 1 2014 2014
dbSNP: rs9895661
rs9895661
BCAS3
10 0.882 0.200 17 61379228 non coding transcript exon variant C/T snv 0.69 0.700 1.000 9 2016 2019
dbSNP: rs77924615
rs77924615
PDILT
7 1.000 0.080 16 20381010 intron variant G/A snv 0.16 0.700 1.000 7 2016 2019
dbSNP: rs963837
rs963837
LINC02859 ; LOC101928338
8 0.925 0.120 11 30727543 intergenic variant T/C snv 0.35 0.700 1.000 7 2016 2019
dbSNP: rs62435145
rs62435145 		8 1.000 0.040 7 1246931 regulatory region variant G/T snv 0.51 0.700 1.000 6 2016 2019
dbSNP: rs881858
rs881858
LOC105375069 ; LOC107986598
7 0.882 0.200 6 43838872 intron variant G/A;C snv 0.700 1.000 6 2016 2019
dbSNP: rs1047891
rs1047891
CPS1
34 0.827 0.200 2 210675783 missense variant C/A snv 0.30 0.33 0.700 1.000 5 2017 2019
dbSNP: rs11123169
rs11123169
PSD4
3 1.000 0.080 2 113209498 upstream gene variant C/A;T snv 0.700 1.000 5 2018 2019
dbSNP: rs12509595
rs12509595 		10 1.000 0.080 4 80261400 intergenic variant T/C snv 0.23 0.700 1.000 5 2018 2019
dbSNP: rs17216707
rs17216707 		6 20 54115823 intergenic variant T/C snv 0.17 0.700 1.000 5 2016 2019
dbSNP: rs2279463
rs2279463
SLC22A2
4 1.000 0.080 6 160247357 intron variant A/G;T snv 0.700 1.000 5 2016 2019
dbSNP: rs3850625
rs3850625
CACNA1S
3 1 201047168 missense variant G/A snv 0.12 8.9E-02 0.700 1.000 5 2016 2019
dbSNP: rs80282103
rs80282103
LARP4B
4 1.000 0.080 10 853131 intron variant A/T snv 0.12 0.700 1.000 5 2017 2019
dbSNP: rs8096658
rs8096658
NFATC1 ; LOC107985163
5 0.925 0.120 18 79396537 intron variant C/G snv 0.39 0.700 1.000 5 2016 2019