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: rs104893677
rs104893677
AGTR1
1.000 0.120 3 148741880 missense variant C/T snv 1.4E-05
CUI: C0266313
Disease: Allanson Pantzar McLeod syndrome
Allanson Pantzar McLeod syndrome 		0.800 1.000 1 2005 2005
dbSNP: rs12695894
rs12695894
AGTR1
0.882 0.120 3 148724853 intron variant A/G snv 2.7E-02
CUI: C0027404
Disease: Narcolepsy
Narcolepsy 		0.700 1.000 1 2009 2009
dbSNP: rs12695894
rs12695894
AGTR1
0.882 0.120 3 148724853 intron variant A/G snv 2.7E-02
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		0.700 1.000 1 2018 2018
dbSNP: rs12695894
rs12695894
AGTR1
0.882 0.120 3 148724853 intron variant A/G snv 2.7E-02
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2018 2018
dbSNP: rs12721235
rs12721235
AGTR1
3 148722587 intron variant C/A snv 1.7E-02
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs12721235
rs12721235
AGTR1
3 148722587 intron variant C/A snv 1.7E-02
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs12721235
rs12721235
AGTR1
3 148722587 intron variant C/A snv 1.7E-02
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs12721235
rs12721235
AGTR1
3 148722587 intron variant C/A snv 1.7E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs1826361
rs1826361
AGTR1
3 148726941 intron variant A/C snv 0.13
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs1826361
rs1826361
AGTR1
3 148726941 intron variant A/C snv 0.13
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs5185
rs5185
AGTR1
3 148742185 3 prime UTR variant T/G snv 6.7E-03 2.5E-02
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs5185
rs5185
AGTR1
3 148742185 3 prime UTR variant T/G snv 6.7E-03 2.5E-02
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs5185
rs5185
AGTR1
3 148742185 3 prime UTR variant T/G snv 6.7E-03 2.5E-02
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs5185
rs5185
AGTR1
3 148742185 3 prime UTR variant T/G snv 6.7E-03 2.5E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs387906577
rs387906577
AGTR1
1.000 0.120 3 148741144 frameshift variant -/T delins 4.0E-06; 4.0E-06 7.0E-06
CUI: C0266313
Disease: Allanson Pantzar McLeod syndrome
Allanson Pantzar McLeod syndrome 		0.700 0
dbSNP: rs397514687
rs397514687
AGTR1
1.000 0.120 3 148741411 stop gained C/G;T snv 4.1E-06; 1.6E-05
CUI: C0266313
Disease: Allanson Pantzar McLeod syndrome
Allanson Pantzar McLeod syndrome 		0.700 0