Gene: SPTA1 ×
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: rs148912436
rs148912436
SPTA1
1 1 158667938 missense variant T/C snv 8.1E-03 8.0E-03 0.700 1.000 1 2016 2016
dbSNP: rs2246434
rs2246434
SPTA1
3 1 158648665 intron variant G/A snv 0.26 0.22 0.700 1.000 1 2018 2018