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: rs1064797086
rs1064797086
3 0.882 0.080 11 128810639 missense variant G/A snv 0.700 1.000 1 2019 2019
dbSNP: rs1565372210
rs1565372210
1 1.000 0.080 11 128480265 frameshift variant TCCTTG/AA delins 0.700 0