BBS2, Bardet-Biedl syndrome 2, 583

N. diseases: 128; N. variants: 60
Disease: Retinitis Pigmentosa ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908175
rs121908175
Entrez Id: 583
Gene Symbol: BBS2
BBS2
CUI: C0035334
Disease:
Retinitis Pigmentosa 		C 0.700 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709 2019
dbSNP: rs770258677
rs770258677
Entrez Id: 583
Gene Symbol: BBS2
BBS2
CUI: C0035334
Disease:
Retinitis Pigmentosa 		A 0.700 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709 2019
dbSNP: rs121908179
rs121908179
Entrez Id: 583
Gene Symbol: BBS2
BBS2
CUI: C0035334
Disease:
Retinitis Pigmentosa 		G 0.700 CausalMutation CLINVAR
dbSNP: rs138043021
rs138043021
Entrez Id: 583
Gene Symbol: BBS2
BBS2
CUI: C0035334
Disease:
Retinitis Pigmentosa 		G 0.700 CausalMutation CLINVAR