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: rs334
rs334
HBB
35 0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03 0.010 1.000 1 2010 2010
dbSNP: rs5470
rs5470
HP ; TXNL4B
3 0.882 0.160 16 72054522 5 prime UTR variant C/G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs5471
rs5471
HP ; TXNL4B
6 0.882 0.160 16 72054562 5 prime UTR variant A/C;G snv 7.9E-03 0.010 1.000 1 2010 2010