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: rs552599526
rs552599526
2 4 38675391 intron variant C/-;CC;CCC;CCCC;CCCCC;CCCCCC delins 0.700 1.000 1 2016 2016
dbSNP: rs6531656
rs6531656
2 1.000 0.040 4 38682580 intron variant C/T snv 0.87 0.700 1.000 1 2016 2016