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: rs1158185476
rs1158185476
RSPH3
1 1.000 6 158982496 stop gained G/A;T snv 4.1E-06 0.700 0
dbSNP: rs142800871
rs142800871
RSPH3
2 0.925 0.160 6 158986423 splice acceptor variant T/C snv 4.6E-05 2.1E-05 0.700 0
dbSNP: rs796052117
rs796052117
RSPH3
1 1.000 6 158993853 stop gained G/A snv 0.700 0
dbSNP: rs796052118
rs796052118
RSPH3
1 1.000 6 158980867 stop gained G/A snv 0.700 0
dbSNP: rs796052119
rs796052119
RSPH3
1 1.000 6 158982502 stop gained G/A snv 4.1E-06 0.700 0
dbSNP: rs875989825
rs875989825
RSPH3
1 1.000 6 158978309 frameshift variant CATT/- delins 0.700 0