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: rs1405414838
rs1405414838
RGR ; LRIT1
0.925 0.040 10 84232835 missense variant C/T snv
CUI: C2940786
Disease: Thyroid Hormone Resistance Syndrome
Thyroid Hormone Resistance Syndrome 		0.010 1.000 1 1996 1996
dbSNP: rs1405414838
rs1405414838
RGR ; LRIT1
0.925 0.040 10 84232835 missense variant C/T snv
CUI: C4722330
Disease: Generalized Thyroid Hormone Resistance
Generalized Thyroid Hormone Resistance 		0.010 1.000 1 1996 1996