Gene: ASIC4-AS1 ×
Source: CLINVAR ×
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: rs397518461
rs397518461
GMPPA ; ASIC4-AS1
1 1.000 2 219506260 missense variant A/C snv 0.800 1.000 0 2013 2013
dbSNP: rs397518462
rs397518462
GMPPA ; ASIC4-AS1
1 1.000 2 219504138 missense variant G/A;C snv 0.800 1.000 0 2013 2013
dbSNP: rs1553624347
rs1553624347
GMPPA ; ASIC4-AS1
1 1.000 2 219505556 splice donor variant G/A snv 0.700 0
dbSNP: rs397518460
rs397518460
GMPPA ; ASIC4-AS1
1 1.000 2 219501903 stop gained C/G;T snv 8.0E-06 0.700 0
dbSNP: rs886037654
rs886037654
GMPPA ; ASIC4-AS1
1 1.000 2 219501546 frameshift variant A/- delins 0.700 0