FHL2, four and a half LIM domains 2, 2274

N. diseases: 121; N. variants: 7
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: rs3087523
rs3087523
2 105361319 synonymous variant G/A snv 9.4E-02 8.7E-02
CUI: C1305855
Disease: Body mass index
Body mass index
0.700 1.000 1 2019 2019
dbSNP: rs6738207
rs6738207
2 105373259 intron variant G/A snv 0.47
CUI: C0005890
Disease: Body Height
Body Height
0.700 1.000 1 2019 2019
dbSNP: rs113188481
rs113188481
1.000 0.040 2 105363443 missense variant C/T snv 3.5E-03 1.4E-02
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1444068378
rs1444068378
1.000 0.040 2 105363404 missense variant G/A snv 4.0E-06
CUI: C0023418
Disease: leukemia
leukemia
Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs570903247
rs570903247
1.000 0.040 2 105363414 missense variant C/A;T snv 1.1E-04; 2.4E-05
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs727504674
rs727504674
1.000 0.040 2 105363461 missense variant G/A snv 6.3E-05 1.3E-04
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs777846521
rs777846521
1.000 0.040 2 105386375 missense variant C/G;T snv 8.0E-06; 3.2E-05
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic
Cardiovascular Diseases 0.010 1.000 1 2007 2007