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: rs149553138
rs149553138
MARK4 ; TRAPPC6A
19 45169220 intron variant G/A snv 2.1E-02
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2017 2017
dbSNP: rs281865115
rs281865115
MARK4 ; TRAPPC6A ; BLOC1S3
1.000 19 45179427 stop gained C/A snv
CUI: C3888026
Disease: HERMANSKY-PUDLAK SYNDROME 8
HERMANSKY-PUDLAK SYNDROME 8 		0.700 0
dbSNP: rs281865116
rs281865116
MARK4 ; TRAPPC6A ; BLOC1S3
0.925 0.200 19 45179742 frameshift variant C/- delins
CUI: C0079504
Disease: Hermanski-Pudlak Syndrome
Hermanski-Pudlak Syndrome 		0.700 0
dbSNP: rs281865116
rs281865116
MARK4 ; TRAPPC6A ; BLOC1S3
0.925 0.200 19 45179742 frameshift variant C/- delins
CUI: C3888026
Disease: HERMANSKY-PUDLAK SYNDROME 8
HERMANSKY-PUDLAK SYNDROME 8 		0.700 0