Gene: ALMS1 ×
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: rs10193972
rs10193972
ALMS1
1 2 73490529 missense variant A/G snv 0.26 0.39 0.700 1.000 1 2018 2018
dbSNP: rs2421552
rs2421552
ALMS1
2 2 73531676 intron variant C/T snv 0.30 0.700 1.000 1 2018 2018
dbSNP: rs6726694
rs6726694
ALMS1
1 2 73620103 intron variant A/G snv 0.36 0.700 1.000 1 2018 2018