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: rs137852298
rs137852298
GPR143
1.000 X 9760811 missense variant G/A snv
CUI: C3151752
Disease: NYSTAGMUS 6, CONGENITAL, X-LINKED
NYSTAGMUS 6, CONGENITAL, X-LINKED 		0.800 0
dbSNP: rs58933950
rs58933950
GPR143
1.000 0.160 X 9759332 missense variant C/T snv
CUI: C0342684
Disease: Ocular albinism, type I
Ocular albinism, type I 		0.800 1.000 0 1995 2008
dbSNP: rs62635018
rs62635018
GPR143
1.000 0.160 X 9765714 missense variant C/T snv
CUI: C0342684
Disease: Ocular albinism, type I
Ocular albinism, type I 		0.800 1.000 0 1995 2008
dbSNP: rs62635045
rs62635045
GPR143 ; LOC105373126
0.925 0.160 X 9741349 missense variant A/C snv
CUI: C0001916
Disease: Albinism
Albinism 		0.700 1.000 1 1995 1995
dbSNP: rs1057518787
rs1057518787
GPR143
0.925 0.200 X 9765782 frameshift variant CAGCAGAAGGTCCCTAGGCGCGGGG/- delins
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 0
dbSNP: rs1057518787
rs1057518787
GPR143
0.925 0.200 X 9765782 frameshift variant CAGCAGAAGGTCCCTAGGCGCGGGG/- delins
CUI: C1445953
Disease: Poor eye contact
Poor eye contact 		0.700 0
dbSNP: rs1057518787
rs1057518787
GPR143
0.925 0.200 X 9765782 frameshift variant CAGCAGAAGGTCCCTAGGCGCGGGG/- delins
CUI: C0078917
Disease: Albinism, Ocular
Albinism, Ocular 		0.700 0
dbSNP: rs137852296
rs137852296
GPR143
1.000 0.160 X 9759390 missense variant A/G;T snv
CUI: C0342684
Disease: Ocular albinism, type I
Ocular albinism, type I 		0.700 0
dbSNP: rs137852297
rs137852297
GPR143
1.000 0.160 X 9743637 missense variant G/A;T snv 5.5E-06
CUI: C0342684
Disease: Ocular albinism, type I
Ocular albinism, type I 		0.700 0
dbSNP: rs1569118851
rs1569118851
GPR143
1.000 X 9743601 frameshift variant A/- del
CUI: C3151752
Disease: NYSTAGMUS 6, CONGENITAL, X-LINKED
NYSTAGMUS 6, CONGENITAL, X-LINKED 		0.700 0
dbSNP: rs62635042
rs62635042
GPR143 ; LOC105373126
1.000 0.160 X 9741444 missense variant T/A;C snv
CUI: C0001916
Disease: Albinism
Albinism 		0.700 0
dbSNP: rs672601353
rs672601353
GPR143
1.000 0.160 X 9765594 frameshift variant -/C delins
CUI: C0342684
Disease: Ocular albinism, type I
Ocular albinism, type I 		0.700 0