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: rs587776967
rs587776967
CLMP
1 1.000 0.040 11 123084529 missense variant A/G;T snv 8.0E-06 0.800 0
dbSNP: rs765907815
rs765907815
CLMP
1 1.000 0.040 11 123083728 stop gained G/A;C snv 4.0E-06; 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs587776964
rs587776964
CLMP
1 1.000 0.040 11 123084670 frameshift variant T/- del 4.0E-06 0.700 0
dbSNP: rs587776965
rs587776965
CLMP
1 1.000 0.040 11 123074702 missense variant C/T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs587776966
rs587776966
CLMP
1 1.000 0.040 11 123083100 stop gained G/A snv 4.0E-06 0.700 0