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: rs1550532
rs1550532
DGKD
4 2 233356202 intron variant C/G snv 0.75 0.800 1.000 1 2013 2013
dbSNP: rs3109133
rs3109133
GPR39
1 2 132545965 intron variant C/G;T snv 0.700 1.000 1 2015 2015
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: 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: rs1801725
rs1801725
CASR
39 0.633 0.600 3 122284910 missense variant G/T snv 0.13 0.11 0.800 1.000 4 2010 2018
dbSNP: rs17251221
rs17251221
CASR
18 0.724 0.360 3 122274400 intron variant A/G snv 0.11 0.800 1.000 2 2010 2017
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: rs1067
rs1067
WDR5B
2 3 122414118 3 prime UTR variant G/A snv 0.16 0.700 1.000 1 2010 2010
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: rs10934582
rs10934582 		3 3 122294507 downstream gene variant G/A snv 0.28 0.700 1.000 1 2010 2010
dbSNP: rs11918240
rs11918240
CASR
1 3 122226991 intron variant A/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs11929034
rs11929034
PARP9 ; LOC105374071
2 3 122560202 intron variant G/A snv 0.14 0.700 1.000 1 2010 2010
dbSNP: rs12107092
rs12107092
FAM162A
2 3 122405001 intron variant C/T snv 0.19 0.700 1.000 1 2010 2010
dbSNP: rs12635478
rs12635478
CASR
2 3 122289706 3 prime UTR variant C/A snv 0.28 0.700 1.000 1 2010 2010
dbSNP: rs13068893
rs13068893 		1 3 122307242 regulatory region variant C/G snv 8.7E-02 0.700 1.000 1 2015 2015
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: rs13085498
rs13085498 		2 3 122292516 downstream gene variant C/A;T snv 0.28 0.700 1.000 1 2010 2010
dbSNP: rs13085674
rs13085674 		2 3 122292504 downstream gene variant G/A 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: rs1402200
rs1402200 		2 3 122303570 intergenic variant G/A;C snv 0.700 1.000 1 2010 2010
dbSNP: rs1472621
rs1472621 		2 3 122293879 downstream gene variant A/G snv 0.28 0.700 1.000 1 2010 2010
dbSNP: rs16832956
rs16832956 		2 3 122298661 regulatory region variant C/G;T snv 0.19 0.700 1.000 1 2010 2010
dbSNP: rs16833078
rs16833078
CCDC58
2 3 122380747 intron variant A/G;T snv 0.700 1.000 1 2010 2010
dbSNP: rs16833080
rs16833080
CCDC58
2 3 122382060 intron variant C/A;T snv 0.700 1.000 1 2010 2010
dbSNP: rs16833168
rs16833168
PARP9 ; LOC105374071
2 3 122535800 3 prime UTR variant C/A;G;T snv 0.700 1.000 1 2010 2010