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: rs267607144
rs267607144
TRPV4
17 0.716 0.360 12 109800665 missense variant C/T snv 0.700 1.000 4 2010 2014
dbSNP: rs267607165
rs267607165
TUBB3
18 0.708 0.520 16 89935679 missense variant G/A;C snv 0.010 1.000 1 2013 2013
dbSNP: rs876661124
rs876661124
TRPV4
3 0.882 0.160 12 109814507 missense variant G/C snv 0.010 1.000 1 2012 2012