Source: UNIPROT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1554601483
rs1554601483
EXT1
1.000 0.120 8 118110209 missense variant T/C snv
CUI: C0015306
Disease: Hereditary Multiple Exostoses
Hereditary Multiple Exostoses 		0.800 1.000 7 1997 2001
dbSNP: rs188859975
rs188859975
EXT1
1.000 0.120 8 117819755 missense variant G/A snv 2.5E-04 7.7E-05
CUI: C0015306
Disease: Hereditary Multiple Exostoses
Hereditary Multiple Exostoses 		0.700 0