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: rs104894463
rs104894463
NRL
2 0.925 0.080 14 24081471 missense variant A/G snv 0.700 0
dbSNP: rs763191889
rs763191889
NRL
1 1.000 0.040 14 24082625 frameshift variant -/G delins 1.6E-05; 8.0E-06 7.0E-06 0.700 0