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: rs587777690
rs587777690
TMEM98
2 0.925 0.080 17 32940889 missense variant G/C;T snv 4.0E-06 0.800 1.000 2 2014 2015
dbSNP: rs869312733
rs869312733
TMEM98
2 0.925 0.080 17 32940899 missense variant A/C snv 0.800 1.000 2 2014 2015
dbSNP: rs869312734
rs869312734
TMEM98
1 1.000 17 32933276 splice donor variant AGAATGAAGACTGGATCGAAGATGCCTCGTAAGG/- delins 0.700 0