Gene: ALMS1P1 ×
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: rs13538
rs13538
NAT8 ; ALMS1P1
5 1.000 0.080 2 73641201 missense variant A/G snv 0.21 0.31 0.800 1.000 2 2013 2016
dbSNP: rs10206899
rs10206899
ALMS1P1
3 2 73673773 intron variant T/C;G snv 0.21; 3.9E-05 0.800 1.000 1 2013 2013
dbSNP: rs6546869
rs6546869
ALMS1P1
2 1.000 0.080 2 73668638 intron variant G/A snv 0.31 0.700 1.000 2 2019 2019
dbSNP: rs13410232
rs13410232
ALMS1P1
1 2 73644562 intron variant A/T snv 0.26 0.700 1.000 1 2019 2019