Source: CURATED

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: rs12721613
rs12721613
NR1I2
1.000 0.080 3 119807329 missense variant C/T snv 9.8E-03 3.8E-02
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs12721613
rs12721613
NR1I2
1.000 0.080 3 119807329 missense variant C/T snv 9.8E-03 3.8E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs1879997
rs1879997
NR1I2
3 119802381 intron variant T/C snv 0.97
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2012 2012
dbSNP: rs1879997
rs1879997
NR1I2
3 119802381 intron variant T/C snv 0.97
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs2472670
rs2472670
NR1I2
0.925 0.040 3 119784158 intron variant C/T snv 0.71
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2018 2018
dbSNP: rs2472670
rs2472670
NR1I2
0.925 0.040 3 119784158 intron variant C/T snv 0.71
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		0.700 1.000 1 2018 2018
dbSNP: rs3732356
rs3732356
NR1I2
3 119810266 non coding transcript exon variant G/T snv 0.87
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2018 2018