Gene: SPTBN2 ×
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: rs1318256630
rs1318256630
SPTBN2
2 11 66708251 missense variant G/A snv 4.1E-06 0.010 1.000 1 2018 2018
dbSNP: rs397514749
rs397514749
SPTBN2
2 1.000 0.080 11 66707731 missense variant G/A snv 0.010 1.000 1 2020 2020