Source: ALL

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: rs11906160
rs11906160
MYH7B
20 34977952 missense variant G/A;T snv 0.12 0.16
CUI: C1168438
Disease: Protein C antigen measurement
Protein C antigen measurement 		0.800 1.000 2 2010 2011
dbSNP: rs11906160
rs11906160
MYH7B
20 34977952 missense variant G/A;T snv 0.12 0.16
CUI: C0919677
Disease: Protein C measurement
Protein C measurement 		0.800 1.000 2 2010 2011
dbSNP: rs17310467
rs17310467
GSS ; MYH7B
20 34957813 intron variant A/G;T snv
CUI: C1168438
Disease: Protein C antigen measurement
Protein C antigen measurement 		0.800 1.000 2 2010 2012
dbSNP: rs17310467
rs17310467
GSS ; MYH7B
20 34957813 intron variant A/G;T snv
CUI: C0919677
Disease: Protein C measurement
Protein C measurement 		0.800 1.000 2 2010 2012
dbSNP: rs1885120
rs1885120
MYH7B ; MIR499A ; LOC107985393
1.000 0.040 20 34989186 intron variant C/G snv 0.96
CUI: C0025202
Disease: melanoma
melanoma 		0.800 1.000 2 2008 2017
dbSNP: rs1555889738
rs1555889738
GSS ; MYH7B
1.000 0.080 20 34955722 splice region variant C/T snv
CUI: C0398746
Disease: Gluthathione synthetase deficiency
Gluthathione synthetase deficiency 		0.700 1.000 2 2003 2005
dbSNP: rs1058003
rs1058003
TRPC4AP ; MYH7B
20 35002614 3 prime UTR variant G/A snv 0.58
CUI: C0919677
Disease: Protein C measurement
Protein C measurement 		0.700 1.000 1 2010 2010
dbSNP: rs1058003
rs1058003
TRPC4AP ; MYH7B
20 35002614 3 prime UTR variant G/A snv 0.58
CUI: C1168438
Disease: Protein C antigen measurement
Protein C antigen measurement 		0.700 1.000 1 2010 2010
dbSNP: rs13041792
rs13041792
GSS ; MYH7B
20 34957252 intron variant G/A snv 0.19
CUI: C1168438
Disease: Protein C antigen measurement
Protein C antigen measurement 		0.700 1.000 1 2010 2010
dbSNP: rs13041792
rs13041792
GSS ; MYH7B
20 34957252 intron variant G/A snv 0.19
CUI: C0919677
Disease: Protein C measurement
Protein C measurement 		0.700 1.000 1 2010 2010
dbSNP: rs17401737
rs17401737
MYH7B
20 34964839 intron variant C/A snv 8.0E-02
CUI: C0919677
Disease: Protein C measurement
Protein C measurement 		0.700 1.000 1 2010 2010
dbSNP: rs17401737
rs17401737
MYH7B
20 34964839 intron variant C/A snv 8.0E-02
CUI: C1168438
Disease: Protein C antigen measurement
Protein C antigen measurement 		0.700 1.000 1 2010 2010
dbSNP: rs1885120
rs1885120
MYH7B ; MIR499A ; LOC107985393
1.000 0.040 20 34989186 intron variant C/G snv 0.96
CUI: C0406208
Disease: Suntan
Suntan 		0.700 1.000 1 2018 2018
dbSNP: rs2425012
rs2425012
MYH7B
20 34994152 synonymous variant G/A snv 0.45 0.39
CUI: C0489786
Disease: Height
Height 		0.700 1.000 1 2011 2011
dbSNP: rs3746435
rs3746435
MYH7B
20 34999395 missense variant G/C snv 0.19 0.18
CUI: C1168438
Disease: Protein C antigen measurement
Protein C antigen measurement 		0.700 1.000 1 2010 2010
dbSNP: rs3746435
rs3746435
MYH7B
20 34999395 missense variant G/C snv 0.19 0.18
CUI: C0919677
Disease: Protein C measurement
Protein C measurement 		0.700 1.000 1 2010 2010
dbSNP: rs3746446
rs3746446
MYH7B
0.925 0.080 20 34986962 synonymous variant T/C snv 0.19 0.18
CUI: C3280795
Disease: HYPOPLASTIC LEFT HEART SYNDROME 2
HYPOPLASTIC LEFT HEART SYNDROME 2 		0.700 1.000 1 2016 2016
dbSNP: rs3746446
rs3746446
MYH7B
0.925 0.080 20 34986962 synonymous variant T/C snv 0.19 0.18
CUI: C4551854
Disease: HYPOPLASTIC LEFT HEART SYNDROME 1
HYPOPLASTIC LEFT HEART SYNDROME 1 		0.700 1.000 1 2016 2016
dbSNP: rs3746448
rs3746448
MYH7B
20 34985176 intron variant C/T snv 0.17 0.14
CUI: C0005612
Disease: Birth Weight
Birth Weight 		0.700 1.000 1 2019 2019
dbSNP: rs6060139
rs6060139
MYH7B
20 34978696 intron variant T/C snv 0.62
CUI: C0201976
Disease: Creatinine measurement, serum (procedure)
Creatinine measurement, serum (procedure) 		0.700 1.000 1 2019 2019
dbSNP: rs6088662
rs6088662
MYH7B
1.000 0.040 20 34959830 intron variant T/G snv 0.20
CUI: C1168438
Disease: Protein C antigen measurement
Protein C antigen measurement 		0.700 1.000 1 2010 2010
dbSNP: rs6088662
rs6088662
MYH7B
1.000 0.040 20 34959830 intron variant T/G snv 0.20
CUI: C0919677
Disease: Protein C measurement
Protein C measurement 		0.700 1.000 1 2010 2010
dbSNP: rs6088667
rs6088667
MYH7B
20 34978919 intron variant T/G snv 0.19
CUI: C1168438
Disease: Protein C antigen measurement
Protein C antigen measurement 		0.700 1.000 1 2010 2010
dbSNP: rs6088667
rs6088667
MYH7B
20 34978919 intron variant T/G snv 0.19
CUI: C0919677
Disease: Protein C measurement
Protein C measurement 		0.700 1.000 1 2010 2010
dbSNP: rs6120777
rs6120777
MYH7B
20 34972369 intron variant G/A snv 0.16
CUI: C0919677
Disease: Protein C measurement
Protein C measurement 		0.700 1.000 1 2010 2010