Gene: ABRAXAS1 ×
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: rs1553938364
rs1553938364
ABRAXAS1
1 1.000 0.200 4 83485026 frameshift variant AGCACAAAGCCCGAGAGCACCG/- delins 0.700 0