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: rs4306808
rs4306808
FAM162A
2 3 122409619 intron variant G/C snv 0.84 0.700 1.000 1 2010 2010
dbSNP: rs1550532
rs1550532
DGKD
4 2 233356202 intron variant C/G snv 0.75 0.800 1.000 1 2013 2013
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 1 2018 2018
dbSNP: rs780094
rs780094
GCKR
62 0.658 0.400 2 27518370 intron variant T/C snv 0.67 0.800 1.000 1 2013 2013
dbSNP: rs9851884
rs9851884 		2 3 122301347 regulatory region variant A/G snv 0.66 0.700 1.000 1 2010 2010
dbSNP: rs4678180
rs4678180 		2 3 122318950 downstream gene variant T/C snv 0.62 0.700 1.000 1 2010 2010
dbSNP: rs6803098
rs6803098 		2 3 122321763 upstream gene variant C/T snv 0.62 0.700 1.000 1 2010 2010
dbSNP: rs9864290
rs9864290 		2 3 122321215 upstream gene variant C/T snv 0.62 0.700 1.000 1 2010 2010
dbSNP: rs13103813
rs13103813
DOK7
1 4 3466709 intron variant A/C snv 0.62 0.700 1.000 1 2018 2018
dbSNP: rs6438720
rs6438720 		2 3 122298385 TF binding site variant A/C snv 0.60 0.700 1.000 1 2010 2010
dbSNP: rs7179475
rs7179475
PAQR5
1 15 69318828 intron variant G/A snv 0.56 0.700 1.000 1 2018 2018
dbSNP: rs7206699
rs7206699
ZFPM1
1 16 88457407 intron variant T/C snv 0.50 0.700 1.000 1 2018 2018
dbSNP: rs10222633
rs10222633
CASR
4 0.925 0.080 3 122258079 intron variant G/A snv 0.45 0.700 1.000 1 2010 2010
dbSNP: rs3749203
rs3749203
CASR
2 3 122257647 intron variant C/T snv 0.45 0.700 1.000 1 2010 2010
dbSNP: rs12780111
rs12780111
LOC101928272
1 10 9254687 regulatory region variant G/C snv 0.43 0.700 1.000 1 2018 2018
dbSNP: rs1570669
rs1570669
CYP24A1
4 0.925 0.080 20 54157888 intron variant A/G snv 0.42 0.800 1.000 1 2013 2013
dbSNP: rs13301969
rs13301969 		1 9 126532675 downstream gene variant C/T snv 0.33 0.700 1.000 1 2018 2018
dbSNP: rs62462685
rs62462685
PHTF2
1 7 77879316 intron variant C/T snv 0.32 0.700 1.000 1 2018 2018
dbSNP: rs34339006
rs34339006
DGKD
2 1.000 0.040 2 233362876 intron variant C/T snv 0.32 0.700 1.000 1 2018 2018
dbSNP: rs10934578
rs10934578
CASR
4 0.925 0.080 3 122258435 intron variant G/T snv 0.30 0.700 1.000 1 2010 2010
dbSNP: rs13083990
rs13083990 		4 0.925 0.080 3 122295719 downstream gene variant T/C snv 0.30 0.700 1.000 1 2010 2010
dbSNP: rs3749208
rs3749208
CASR
2 3 122261437 intron variant C/T snv 0.28 0.700 1.000 1 2010 2010
dbSNP: rs3804590
rs3804590
CASR
2 3 122259226 intron variant G/T snv 0.28 0.700 1.000 1 2010 2010
dbSNP: rs13095172
rs13095172
CASR
2 3 122271410 intron variant C/T snv 0.28 0.700 1.000 1 2010 2010
dbSNP: rs10934582
rs10934582 		3 3 122294507 downstream gene variant G/A snv 0.28 0.700 1.000 1 2010 2010