Source: BEFREE

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: rs145606134
rs145606134
RAB40AL ; LINC00630
0.882 0.240 X 102937494 missense variant A/G snv 5.4E-03 4.1E-03
CUI: C4303594
Disease: Deafness and intellectual disability Martin Probst type syndrome
Deafness and intellectual disability Martin Probst type syndrome 		0.040 1.000 4 2012 2015
dbSNP: rs145606134
rs145606134
RAB40AL ; LINC00630
0.882 0.240 X 102937494 missense variant A/G snv 5.4E-03 4.1E-03
CUI: C0018775
Disease: Hearing Loss, Bilateral
Hearing Loss, Bilateral 		0.010 1.000 1 2015 2015
dbSNP: rs145606134
rs145606134
RAB40AL ; LINC00630
0.882 0.240 X 102937494 missense variant A/G snv 5.4E-03 4.1E-03
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		0.010 1.000 1 2014 2014
dbSNP: rs145606134
rs145606134
RAB40AL ; LINC00630
0.882 0.240 X 102937494 missense variant A/G snv 5.4E-03 4.1E-03
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.010 1.000 1 2015 2015
dbSNP: rs5945919
rs5945919
LINC00630
1.000 0.080 X 102963359 intergenic variant A/G snv 0.20
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.010 1.000 1 2013 2013