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: rs387906702
rs387906702
SMC1A
16 0.807 0.200 X 53403635 missense variant A/G snv 0.700 0
dbSNP: rs119103268
rs119103268
MFN2
6 0.827 0.080 1 11992689 missense variant C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs199542988
rs199542988
FOXRED1
2 1.000 0.040 11 126277489 missense variant G/A;T snv 1.2E-05; 4.0E-06 0.010 1.000 1 2016 2016