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: rs111033258
rs111033258
CLRN1 ; CLRN1-AS1
7 0.851 0.200 3 150972565 missense variant A/C snv 2.7E-04 1.5E-04 0.700 0
dbSNP: rs111033437
rs111033437
MYO7A
6 0.882 0.120 11 77179925 missense variant G/A;T snv 0.700 0
dbSNP: rs368869806
rs368869806
PTCH1
97 0.614 0.480 9 95485875 splice acceptor variant C/T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs387906271
rs387906271
CHD7
11 0.790 0.320 8 60801598 splice region variant G/C snv 0.700 0