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: rs1559470315
rs1559470315
26 0.732 0.320 3 41227287 protein altering variant CCACAAGCAG/T delins 0.700 0
dbSNP: rs137852220
rs137852220
2 0.925 0.080 X 43949839 missense variant C/A snv 0.010 1.000 1 1996 1996