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: rs386134142
rs386134142
CP
2 0.925 0.080 3 149176413 splice acceptor variant C/T snv 0.700 0
dbSNP: rs386134143
rs386134143
CP
2 0.925 0.080 3 149210167 frameshift variant -/T delins 1.2E-05 0.700 0
dbSNP: rs386134145
rs386134145
CP
2 0.925 0.080 3 149202163 frameshift variant -/GTGTA delins 4.0E-06 0.700 0