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: rs1554076309
rs1554076309
ERCC8 ; NDUFAF2
1 1.000 5 60945264 stop gained G/A snv 0.700 1.000 1 2010 2010
dbSNP: rs137852863
rs137852863
NDUFAF2
5 0.882 0.120 5 61073136 stop gained C/T snv 4.0E-05 3.5E-05 0.700 0
dbSNP: rs1554076306
rs1554076306
ERCC8 ; NDUFAF2
1 1.000 5 60945256 start lost A/T snv 0.700 0
dbSNP: rs1554076324
rs1554076324
ERCC8 ; NDUFAF2
1 1.000 5 60945358 frameshift variant A/- del 0.700 0
dbSNP: rs199754807
rs199754807
ERCC8 ; NDUFAF2
1 1.000 5 60945369 stop gained C/G snv 5.6E-05 2.8E-05 0.700 0