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: rs730881014
rs730881014
RIT1
15 0.776 0.360 1 155904494 stop gained A/C;G;T snv 0.700 0
dbSNP: rs759125480
rs759125480
CEP120
16 0.827 0.160 5 123377409 stop gained G/A snv 1.6E-05 0.700 0
dbSNP: rs796052243
rs796052243
SPATA5
54 0.695 0.520 4 122934574 inframe deletion CAA/- delins 0.700 0
dbSNP: rs886039795
rs886039795
TMEM256 ; TMEM256-PLSCR3
10 0.851 0.160 17 7403143 frameshift variant CACTCAGAGCCTGGTAGTAAAA/- del 0.700 0