EFHD1, EF-hand domain family member D1, 80303

N. diseases: 8; N. variants: 3
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: rs2140773
rs2140773 		2 232648465 intron variant C/A;G snv 0.61
CUI: C1278049
Disease: Serum gamma-glutamyl transferase measurement
Serum gamma-glutamyl transferase measurement 		0.800 1.000 1 2011 2011
dbSNP: rs10165093
rs10165093 		2 232639279 intron variant G/A snv 0.41
CUI: C0201899
Disease: Aspartate aminotransferase measurement
Aspartate aminotransferase measurement 		0.700 1.000 1 2018 2018
dbSNP: rs13395911
rs13395911 		2 232655544 intron variant A/T snv 0.59
CUI: C0201836
Disease: Alanine aminotransferase measurement
Alanine aminotransferase measurement 		0.700 1.000 1 2018 2018
dbSNP: rs13395911
rs13395911 		2 232655544 intron variant A/T snv 0.59
CUI: C1278049
Disease: Serum gamma-glutamyl transferase measurement
Serum gamma-glutamyl transferase measurement 		0.700 1.000 1 2018 2018
dbSNP: rs13395911
rs13395911 		2 232655544 intron variant A/T snv 0.59
CUI: C1883008
Disease: Serum Alanine Aminotransferase Measurement
Serum Alanine Aminotransferase Measurement 		0.700 1.000 1 2018 2018