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: rs121912986
rs121912986
3 0.882 0.200 4 87610957 missense variant C/A;T snv 4.0E-06 0.700 1.000 2 2001 2012
dbSNP: rs121912987
rs121912987
4 0.851 0.200 4 87612105 missense variant G/T snv 0.700 1.000 2 2001 2012
dbSNP: rs1553904404
rs1553904404
2 1.000 0.200 4 87615910 frameshift variant -/C ins 0.700 0