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: rs122468176
rs122468176
MBTPS2
1 1.000 0.200 X 21868476 missense variant A/T snv 0.800 0
dbSNP: rs122468177
rs122468177
MBTPS2
1 1.000 0.200 X 21845207 missense variant G/A snv 0.800 0
dbSNP: rs122468178
rs122468178
MBTPS2
5 0.851 0.320 X 21880921 missense variant G/A snv 0.800 0
dbSNP: rs122468179
rs122468179
MBTPS2
1 1.000 0.200 X 21882519 missense variant T/C snv 0.800 0
dbSNP: rs122468180
rs122468180
MBTPS2
1 1.000 0.200 X 21868473 missense variant G/T snv 0.800 0
dbSNP: rs587777305
rs587777305
MBTPS2
1 1.000 0.200 X 21868458 intron variant T/G snv 0.700 0
dbSNP: rs781767722
rs781767722
GJB2
1 1.000 0.200 13 20189056 missense variant T/C snv 4.0E-06 0.700 0