Gene: PMS1 ×
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: rs5742933
rs5742933
PMS1 ; ORMDL1
5 0.882 0.080 2 189784590 5 prime UTR variant G/A;C snv 0.700 1.000 1 2014 2014
dbSNP: rs5743077
rs5743077
PMS1
2 2 189832613 intron variant G/A;C snv 0.700 1.000 1 2017 2017