Source: ALL
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: rs1060499562
rs1060499562
ZIC2
2 0.925 0.120 13 99984962 stop gained TG/- delins 0.700 0
dbSNP: rs1060499563
rs1060499563
ZIC2
2 0.925 0.120 13 99982857 stop gained C/T snv 0.700 0
dbSNP: rs876661328
rs876661328
FGF8
1 1.000 0.120 10 101774752 missense variant G/T snv 0.700 0
dbSNP: rs876661329
rs876661329
FGF8 ; LOC105378457
2 0.925 0.120 10 101771551 missense variant G/A snv 0.700 0
dbSNP: rs876661334
rs876661334
FGFR1
2 0.925 0.240 8 38414778 splice donor variant C/T snv 0.700 0