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: rs111033589
rs111033589
DHH ; LOC105369759
1 1.000 0.160 12 49091208 missense variant A/G snv 7.0E-06 0.800 1.000 1 2004 2004
dbSNP: rs1480612338
rs1480612338
DHH ; LOC105369759
4 0.851 0.160 12 49090416 missense variant C/T snv 4.3E-06 0.700 1.000 1 2018 2018
dbSNP: rs1565572949
rs1565572949
DHH ; LOC105369759
4 0.851 0.160 12 49090039 frameshift variant G/- del 0.700 1.000 1 2018 2018
dbSNP: rs1565573786
rs1565573786
DHH ; LOC105369759
6 0.807 0.160 12 49091165 stop gained G/C;T snv 0.700 1.000 1 2018 2018
dbSNP: rs867798393
rs867798393
DHH ; LOC105369759
1 1.000 0.160 12 49090023 missense variant A/G snv 0.700 0