Gene: TMEM67 ×
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: rs1554558365
rs1554558365
TMEM67
4 0.925 0.120 8 93804851 inframe insertion -/TATGAA delins 0.700 0
dbSNP: rs765468645
rs765468645
TMEM67
5 0.882 0.160 8 93765413 stop gained C/T snv 8.0E-06 2.1E-05 0.700 0