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: rs1553704814
rs1553704814
MITF
3 0.882 0.280 3 69956461 inframe deletion AGA/- delins 0.700 1.000 12 1995 2018
dbSNP: rs1553572967
rs1553572967
PAX3 ; LOC107985991
2 0.925 0.040 2 222221300 frameshift variant -/C delins 0.700 1.000 3 1995 1997
dbSNP: rs876657717
rs876657717
PAX3
1 1.000 0.040 2 222232202 missense variant C/T snv 4.0E-06 0.700 1.000 3 1992 2015
dbSNP: rs1057518765
rs1057518765
MITF
1 1.000 0.040 3 69949082 missense variant A/G snv 4.0E-06 0.700 0
dbSNP: rs104893746
rs104893746
MITF
6 0.851 0.120 3 69956460 stop gained C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs104894396
rs104894396
GJB2
28 0.672 0.400 13 20189511 stop gained C/T snv 5.8E-04 1.1E-04 0.010 1.000 1 2015 2015
dbSNP: rs763119975
rs763119975
MITF
1 1.000 0.040 3 69956488 missense variant G/A;T snv 8.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs876657699
rs876657699
MITF
2 0.925 0.040 3 69959370 stop gained C/G;T snv 0.010 1.000 1 2019 2019