Source: CURATED ×
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: rs771145682
rs771145682
PUM1
1 1.000 1 30942015 missense variant T/A snv 8.0E-06 0.800 1.000 1 2018 2018
dbSNP: rs1557539450
rs1557539450
PUM1
1 1.000 1 30933339 missense variant G/A snv 0.700 1.000 1 2018 2018
dbSNP: rs1557541619
rs1557541619
PUM1 ; SNORD103A
1 1.000 1 30936663 missense variant G/A snv 0.700 1.000 1 2018 2018