Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs773946331
rs773946331
TLR2
0.925 0.240 4 153702941 missense variant G/A snv 3.6E-05 3.5E-05
CUI: C0265336
Disease: Senter syndrome
Senter syndrome 		0.010 1.000 1 2017 2017
dbSNP: rs773946331
rs773946331
TLR2
0.925 0.240 4 153702941 missense variant G/A snv 3.6E-05 3.5E-05
CUI: C3665333
Disease: Keratitis-Ichthyosis-Deafness Syndrome
Keratitis-Ichthyosis-Deafness Syndrome 		0.010 1.000 1 2017 2017