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: rs29230
rs29230
GABBR1
0.807 0.440 6 29608616 missense variant A/C;G snv 4.1E-06; 0.18
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma 		0.700 1.000 2 2010 2012
dbSNP: rs29230
rs29230
GABBR1
0.807 0.440 6 29608616 missense variant A/C;G snv 4.1E-06; 0.18
CUI: C0586323
Disease: Alcohol Withdrawal Seizures
Alcohol Withdrawal Seizures 		0.010 < 0.001 1 2006 2006
dbSNP: rs29230
rs29230
GABBR1
0.807 0.440 6 29608616 missense variant A/C;G snv 4.1E-06; 0.18
CUI: C0520679
Disease: Sleep Apnea, Obstructive
Sleep Apnea, Obstructive 		0.010 1.000 1 2016 2016
dbSNP: rs29230
rs29230
GABBR1
0.807 0.440 6 29608616 missense variant A/C;G snv 4.1E-06; 0.18
CUI: C4285910
Disease: Obstructive sleep apnea hypopnea syndrome
Obstructive sleep apnea hypopnea syndrome 		0.010 1.000 1 2016 2016
dbSNP: rs29230
rs29230
GABBR1
0.807 0.440 6 29608616 missense variant A/C;G snv 4.1E-06; 0.18
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		0.010 < 0.001 1 2006 2006
dbSNP: rs29230
rs29230
GABBR1
0.807 0.440 6 29608616 missense variant A/C;G snv 4.1E-06; 0.18
CUI: C0085280
Disease: Alagille Syndrome
Alagille Syndrome 		0.010 < 0.001 1 2006 2006