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: rs1057519325
rs1057519325
MITF
2 0.925 0.040 3 69951870 missense variant G/C snv 0.800 0
dbSNP: rs1057519326
rs1057519326
MITF
2 0.925 0.040 3 69956469 missense variant A/G snv 0.800 0
dbSNP: rs1057519327
rs1057519327
MITF
2 0.925 0.040 3 69956454 splice acceptor variant G/A snv 0.700 0
dbSNP: rs1553704814
rs1553704814
MITF
3 0.882 0.280 3 69956461 inframe deletion AGA/- delins 0.700 0