Gene: EFHC1 ×
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: rs137852776
rs137852776
EFHC1
5 0.827 0.080 6 52452799 missense variant T/C snv 3.5E-03 2.4E-03 0.010 1.000 1 2012 2012
dbSNP: rs149055334
rs149055334
EFHC1
2 0.925 0.040 6 52424111 missense variant C/A snv 1.9E-03 7.7E-03 0.010 1.000 1 2015 2015
dbSNP: rs79761183
rs79761183
EFHC1
2 0.925 0.040 6 52452776 missense variant G/A;C snv 2.0E-03; 8.0E-06; 1.2E-05 7.6E-03 0.010 1.000 1 2015 2015