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: rs868988300
rs868988300
POLDIP2 ; TMEM199
1 1.000 0.040 17 28357364 missense variant G/C snv 0.010 1.000 1 2006 2006
dbSNP: rs983198652
rs983198652
AIMP2 ; SNORA80D
2 0.925 0.040 7 6015170 missense variant G/A snv 0.010 1.000 1 2006 2006