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: rs886039904
rs886039904
GJC2
6 0.851 0.200 1 228157836 frameshift variant G/- del 0.700 0
dbSNP: rs886039911
rs886039911
RPGRIP1
3 0.882 0.080 14 21307830 splice donor variant AGAGGTGAGTTGCCATCATCA/- delins 0.700 0