Gene: AHI1 ×
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: rs1554347012
rs1554347012
AHI1
1 1.000 0.040 6 135442577 splice region variant C/A snv 0.700 0