Gene: TMLHE ×
Source: UNIPROT ×
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: rs782001959
rs782001959
TMLHE ; TMLHE-AS1
1 1.000 X 155492384 missense variant C/A snv 2.1E-03 0.800 1.000 2 2011 2012
dbSNP: rs869320708
rs869320708
TMLHE ; TMLHE-AS1
1 1.000 X 155511701 missense variant C/G snv 0.800 1.000 2 2011 2012