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: rs796052243
rs796052243
SPATA5
54 0.695 0.520 4 122934574 inframe deletion CAA/- delins 0.700 0
dbSNP: rs1561873941
rs1561873941
CUL7
10 0.925 0.200 6 43040335 frameshift variant T/- del 0.700 1.000 1 2019 2019
dbSNP: rs1569518070
rs1569518070
COL6A1
33 0.752 0.480 21 45989088 inframe deletion AAC/- del 0.700 0
dbSNP: rs886039795
rs886039795
TMEM256 ; TMEM256-PLSCR3
10 0.851 0.160 17 7403143 frameshift variant CACTCAGAGCCTGGTAGTAAAA/- del 0.700 0