Source: CLINVAR

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: rs886039794
rs886039794
LRRCC1 ; LOC105375933
0.851 0.480 8 85109594 splice acceptor variant G/C snv
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.700 0
dbSNP: rs886039794
rs886039794
LRRCC1 ; LOC105375933
0.851 0.480 8 85109594 splice acceptor variant G/C snv
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis 		0.700 0
dbSNP: rs886039794
rs886039794
LRRCC1 ; LOC105375933
0.851 0.480 8 85109594 splice acceptor variant G/C snv
CUI: C3549567
Disease: Echogenic kidneys
Echogenic kidneys 		0.700 0
dbSNP: rs886039794
rs886039794
LRRCC1 ; LOC105375933
0.851 0.480 8 85109594 splice acceptor variant G/C snv
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs886039794
rs886039794
LRRCC1 ; LOC105375933
0.851 0.480 8 85109594 splice acceptor variant G/C snv
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 0
dbSNP: rs886039794
rs886039794
LRRCC1 ; LOC105375933
0.851 0.480 8 85109594 splice acceptor variant G/C snv
CUI: C0796074
Disease: MOHR-TRANEBJAERG SYNDROME
MOHR-TRANEBJAERG SYNDROME 		0.700 0
dbSNP: rs886039794
rs886039794
LRRCC1 ; LOC105375933
0.851 0.480 8 85109594 splice acceptor variant G/C snv
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		0.700 0
dbSNP: rs886039794
rs886039794
LRRCC1 ; LOC105375933
0.851 0.480 8 85109594 splice acceptor variant G/C snv
CUI: C0220726
Disease: Diastrophic dysplasia
Diastrophic dysplasia 		0.700 0