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: rs2970847
rs2970847
PPARGC1A
0.882 0.200 4 23814301 synonymous variant T/C snv 0.84 0.86
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.040 1.000 4 2007 2018
dbSNP: rs2970847
rs2970847
PPARGC1A
0.882 0.200 4 23814301 synonymous variant T/C snv 0.84 0.86
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.010 1.000 1 2007 2007
dbSNP: rs2970847
rs2970847
PPARGC1A
0.882 0.200 4 23814301 synonymous variant T/C snv 0.84 0.86
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2019 2019