SLC7A1, solute carrier family 7 member 1, 6541

N. diseases: 46; N. variants: 6
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs3803266
rs3803266
13 29580212 intron variant G/C;T snv
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
Cardiovascular Diseases 0.700 1.000 1 2019 2019
dbSNP: rs63418562
rs63418562
13 29572064 intron variant C/T snv
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure
0.700 1.000 1 2017 2017
dbSNP: rs63418562
rs63418562
13 29572064 intron variant C/T snv
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure
0.700 1.000 1 2017 2017
dbSNP: rs7338758
rs7338758
13 29563691 intron variant T/C snv 0.55
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure
0.700 1.000 1 2019 2019
dbSNP: rs9508495
rs9508495
13 29572064 intron variant C/T snv 0.59
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure
0.700 1.000 1 2019 2019
dbSNP: rs41318021
rs41318021
1.000 0.040 13 29514470 3 prime UTR variant G/A snv 6.6E-02 6.5E-02
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
Cardiovascular Diseases 0.010 1.000 1 2013 2013
dbSNP: rs41318021
rs41318021
1.000 0.040 13 29514470 3 prime UTR variant G/A snv 6.6E-02 6.5E-02
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension
Cardiovascular Diseases 0.010 < 0.001 1 2013 2013
dbSNP: rs765151049
rs765151049
1.000 0.040 13 29536029 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
Nervous System Diseases 0.010 1.000 1 2010 2010