Source: CURATED

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: rs121917812
rs121917812
CACNB2 ; NSUN6
1.000 0.080 10 18539345 missense variant C/T snv 4.0E-06
CUI: C2678477
Disease: Brugada Syndrome 4
Brugada Syndrome 4 		0.800 1.000 1 2007 2007
dbSNP: rs11015020
rs11015020
NSUN6
0.925 0.040 10 18588058 intron variant G/C snv 5.4E-02
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		0.700 1.000 1 2018 2018
dbSNP: rs11015020
rs11015020
NSUN6
0.925 0.040 10 18588058 intron variant G/C snv 5.4E-02
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2018 2018
dbSNP: rs4445544
rs4445544
NSUN6
1.000 0.040 10 18587155 intron variant C/A snv 0.27
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.700 1.000 1 2019 2019