Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1554571213
rs1554571213
0.925 0.080 8 96144601 missense variant A/T snv
CUI: C4693531
Disease: MULTIPLE SYNOSTOSES SYNDROME 4
MULTIPLE SYNOSTOSES SYNDROME 4
0.800 1.000 2 2016 2018
dbSNP: rs1554571225
rs1554571225
1.000 8 96144644 missense variant G/T snv
CUI: C4693531
Disease: MULTIPLE SYNOSTOSES SYNDROME 4
MULTIPLE SYNOSTOSES SYNDROME 4
0.700 1.000 2 2016 2018