Gene: TESPA1 ×
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: rs4758994
rs4758994
TESPA1
1 1.000 0.040 12 54974584 5 prime UTR variant G/A snv 0.31 0.28 0.010 1.000 1 2014 2014
dbSNP: rs997173
rs997173
TESPA1
1 1.000 0.040 12 54961249 stop gained C/A;T snv 0.19 0.010 1.000 1 2014 2014