TTR, transthyretin, 7276

N. diseases: 461; N. variants: 64
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: rs28933979
rs28933979
0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04
CUI: C0007286
Disease: Carpal Tunnel Syndrome
Carpal Tunnel Syndrome
Nervous System Diseases; Wounds and Injuries 0.730 0.667 3 2009 2017
dbSNP: rs76992529
rs76992529
0.653 0.560 18 31598655 missense variant G/A snv 1.1E-03 4.9E-03
CUI: C0007286
Disease: Carpal Tunnel Syndrome
Carpal Tunnel Syndrome
Nervous System Diseases; Wounds and Injuries 0.710 1.000 1 2019 2019
dbSNP: rs121918088
rs121918088
0.851 0.120 18 31598631 missense variant T/C snv
CUI: C0007286
Disease: Carpal Tunnel Syndrome
Carpal Tunnel Syndrome
Nervous System Diseases; Wounds and Injuries 0.700 1.000 1 1994 1994
dbSNP: rs121918091
rs121918091
0.882 0.200 18 31595169 missense variant T/C snv 4.0E-06
CUI: C0007286
Disease: Carpal Tunnel Syndrome
Carpal Tunnel Syndrome
Nervous System Diseases; Wounds and Injuries 0.700 0
dbSNP: rs121918082
rs121918082
0.827 0.280 18 31595244 missense variant G/C snv
CUI: C0007286
Disease: Carpal Tunnel Syndrome
Carpal Tunnel Syndrome
Nervous System Diseases; Wounds and Injuries 0.010 1.000 1 2016 2016
dbSNP: rs933476040
rs933476040
0.925 0.120 18 31595130 missense variant G/A snv
CUI: C0007286
Disease: Carpal Tunnel Syndrome
Carpal Tunnel Syndrome
Nervous System Diseases; Wounds and Injuries 0.010 1.000 1 2016 2016
dbSNP: rs958191819
rs958191819
0.851 0.240 18 31595212 missense variant A/T snv 7.0E-06
CUI: C0007286
Disease: Carpal Tunnel Syndrome
Carpal Tunnel Syndrome
Nervous System Diseases; Wounds and Injuries 0.010 1.000 1 2003 2003