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: rs17023223
rs17023223
WARS2
1 1 119088551 intron variant T/C snv 0.40 0.700 1.000 1 2017 2017
dbSNP: rs12317176
rs12317176
CCDC92 ; DNAH10
3 12 123920171 intron variant T/C snv 0.39 0.700 1.000 1 2017 2017
dbSNP: rs7133378
rs7133378
CCDC92 ; DNAH10
6 12 123924955 intron variant G/A snv 0.38 0.700 1.000 1 2017 2017
dbSNP: rs11057397
rs11057397
CCDC92 ; DNAH10
1 12 123935181 intron variant C/T snv 0.32 0.700 1.000 1 2017 2017
dbSNP: rs4765219
rs4765219
CCDC92
3 12 123955563 intron variant C/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs7973683
rs7973683
CCDC92
3 12 123964676 intron variant C/A snv 0.39 0.700 1.000 1 2017 2017
dbSNP: rs17819328
rs17819328 		4 3 12447843 intergenic variant T/A;G snv 0.700 1.000 1 2017 2017
dbSNP: rs6864049
rs6864049
LINC02240 ; LOC105379158
2 5 124994829 intron variant A/C;G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs3781411
rs3781411
CTBP2
1 10 125026867 missense variant C/T snv 0.15 0.14 0.700 1.000 1 2018 2018
dbSNP: rs1936797
rs1936797 		3 6 127111512 intron variant A/G snv 0.33 0.700 1.000 1 2017 2017
dbSNP: rs1555091
rs1555091 		1 6 127115500 intron variant G/A snv 0.30 0.700 1.000 1 2017 2017
dbSNP: rs1936807
rs1936807
RSPO3
4 6 127127104 intron variant C/G snv 0.55 0.700 1.000 1 2017 2017
dbSNP: rs7766106
rs7766106
RSPO3
3 6 127133993 intron variant C/T snv 0.44 0.700 1.000 1 2017 2017
dbSNP: rs2503111
rs2503111
RSPO3
1 6 127147043 intron variant G/A;C;T snv 0.700 1.000 1 2017 2017
dbSNP: rs1043595
rs1043595
CALU
2 7 128769958 3 prime UTR variant G/A snv 0.19 0.700 1.000 1 2018 2018
dbSNP: rs10804591
rs10804591 		5 3 129615390 intergenic variant C/A snv 0.63 0.700 1.000 1 2017 2017
dbSNP: rs1465370
rs1465370 		1 7 130373797 TF binding site variant G/T snv 0.38 0.700 1.000 1 2017 2017
dbSNP: rs117911989
rs117911989
MKLN1
2 7 131285034 intron variant G/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs7804463
rs7804463
EXOC4
1 7 133762898 intron variant T/C snv 0.47 0.700 1.000 1 2018 2018
dbSNP: rs13243553
rs13243553
EXOC4 ; LOC101928861
1 7 133822202 intron variant G/A snv 0.41 0.700 1.000 1 2018 2018
dbSNP: rs6766897
rs6766897 		1 3 134472461 regulatory region variant C/A snv 0.65 0.700 1.000 1 2017 2017
dbSNP: rs6772896
rs6772896
ANAPC13 ; CEP63
3 3 134484505 intron variant C/T snv 0.68 0.700 1.000 1 2017 2017
dbSNP: rs1308362
rs1308362
MRAS
2 3 138385085 intron variant A/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs1720825
rs1720825
MRAS
2 3 138389241 intron variant A/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs7632381
rs7632381
ZBTB38
2 3 141387221 non coding transcript exon variant T/A;C snv 0.700 1.000 1 2017 2017