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: rs104893746
rs104893746
MITF
6 0.851 0.120 3 69956460 stop gained C/T snv 0.700 0
dbSNP: rs104894396
rs104894396
GJB2
28 0.672 0.400 13 20189511 stop gained C/T snv 5.8E-04 1.1E-04 0.700 0
dbSNP: rs147682682
rs147682682
MITF
4 1.000 0.040 3 69956496 stop gained G/A;T snv 1.2E-05 1.4E-05 0.700 0
dbSNP: rs1555565774
rs1555565774
EFTUD2
16 0.807 0.360 17 44862753 frameshift variant G/- delins 0.700 0
dbSNP: rs1559749017
rs1559749017
MITF
4 0.925 0.040 3 69956531 splice donor variant G/A snv 0.700 0
dbSNP: rs1559751245
rs1559751245
MITF
6 0.882 0.280 3 69959280 missense variant C/G snv 0.700 0
dbSNP: rs1561416879
rs1561416879
ADGRV1
6 0.925 0.200 5 90629308 stop gained C/G 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: rs768126403
rs768126403
EDNRB
4 1.000 0.080 13 77918517 stop gained G/A;T snv 0.700 0
dbSNP: rs773779627
rs773779627
EDN3
5 1.000 0.080 20 59301689 missense variant G/A;T snv 4.0E-06 0.700 0