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: rs137853883
rs137853883
5 0.882 0.120 17 41819307 frameshift variant C/-;CC delins 0.700 0
dbSNP: rs1565789682
rs1565789682
SP7
1 1.000 12 53328496 missense variant G/A snv 0.700 0
dbSNP: rs372896892
rs372896892
1 1.000 17 41820412 stop gained C/G;T snv 4.0E-06 0.700 0
dbSNP: rs387907325
rs387907325
1 1.000 17 41819559 frameshift variant -/T delins 0.700 0
dbSNP: rs397509383
rs397509383
2 0.925 0.120 17 41820961 frameshift variant CC/A delins 0.700 0