SNP Directory

450,817 genetic variants in our database.

All (450,817) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS2037229663 CEP290 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2037232562 CCDC40 Health Risk Likely pathogenic Primary ciliary dyskinesia 15, Primary ciliary dyskinesia 15
RS2037236648 CCDC40 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2037256715 RAX2 Health Risk Pathogenic —
RS2037262817 RAX2 Health Risk Pathogenic Retinitis pigmentosa 95, Retinitis pigmentosa 95
RS2037268635 PIEZO2 Health Risk Likely pathogenic —
RS2037306370 PIBF1 Health Risk Pathogenic Joubert syndrome 33, Joubert syndrome 33
RS2037326125 BUB1B Health Risk Pathogenic Mosaic variegated aneuploidy syndrome 1, Mosaic variegated aneuploidy syndrome 1
RS2037335667 PIEZO2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2037346846 BUB1B Health Risk Pathogenic Mosaic variegated aneuploidy syndrome 1, Mosaic variegated aneuploidy syndrome 1
RS2037350060 BUB1B Health Risk Likely pathogenic Mosaic variegated aneuploidy syndrome 1, Mosaic variegated aneuploidy syndrome 1
RS2037363765 NBEAL2 Health Risk Pathogenic Gray platelet syndrome, Gray platelet syndrome
RS2037378158 ARL6 Health Risk Likely pathogenic Bardet-Biedl syndrome 3, Retinitis pigmentosa 55
RS2037381055 ARL6 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2037388926 GREB1L Health Risk Likely pathogenic Renal hypodysplasia/aplasia 3, Renal hypodysplasia/aplasia 3
RS2037388948 GPR179 Health Risk Pathogenic Congenital stationary night blindness 1E, Congenital stationary night blindness 1E
RS2037399601 MAPK8IP3 Health Risk Likely pathogenic Neurodevelopmental disorder with or without variable brain abnormalities, NEDBA
RS2037410932 GPR179 Health Risk Likely pathogenic Congenital stationary night blindness 1B, Congenital stationary night blindness 1B
RS2037415464 NBEAL2 Health Risk Likely pathogenic Gray platelet syndrome, Gray platelet syndrome
RS2037417315 NBEAL2 Health Risk Likely pathogenic Gray platelet syndrome, Gray platelet syndrome
RS2037428827 NBEAL2 Health Risk Pathogenic Gray platelet syndrome, Gray platelet syndrome
RS2037428972 GREB1L Health Risk Conflicting classifications of pathogenicity Renal hypodysplasia/aplasia 3, Mayer-Rokitansky-Kuster-Hauser syndrome
RS2037432429 SHMT2 Health Risk Likely pathogenic Neurodevelopmental disorder with cardiomyopathy, spasticity
RS2037437436 COL18A1 Health Risk Pathogenic —
RS2037451732 POLR3B Health Risk Pathogenic Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism, Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
RS2037451945 POLR3B Health Risk Likely pathogenic Charcot-Marie-Tooth disease, demyelinating
RS2037465152 SHMT2 Health Risk Likely pathogenic Neurodevelopmental disorder with cardiomyopathy, spasticity
RS2037466762 LOXHD1 Health Risk Pathogenic —
RS2037471500 GPR179 Health Risk Pathogenic —
RS2037477197 CEP290 Health Risk Pathogenic Meckel-Gruber syndrome, Nephronophthisis
RS2037478393 CEP290 Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2037480294 CEP290 Health Risk Likely pathogenic CEP290-related disorder, Leber congenital amaurosis 10
RS2037480406 CEP290 Health Risk Likely pathogenic CEP290-related disorder, Joubert syndrome
RS2037488871 COL18A1 Health Risk Pathogenic Knobloch syndrome, Cowden syndrome 1
RS2037490138 POLR3B Health Risk Likely pathogenic —
RS2037491178 CCDC40 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2037491872 LOXHD1 Health Risk Pathogenic —
RS2037492289 POLR3B Health Risk Likely pathogenic —
RS2037495535 LOXHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS2037500230 LOXHD1 Health Risk Pathogenic —
RS2037501401 NBEAL2 Health Risk Pathogenic Gray platelet syndrome, Gray platelet syndrome
RS2037525325 IFT43 Health Risk Likely pathogenic Malignant tumor of urinary bladder, Malignant tumor of urinary bladder
RS2037540861 CCDC40 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2037541934 ARL6 Health Risk Pathogenic Retinitis pigmentosa 55, Bardet-Biedl syndrome 3
RS2037558268 NBEAL2 Health Risk Pathogenic Gray platelet syndrome, Gray platelet syndrome
RS2037587680 BUB1B Health Risk Pathogenic Mosaic variegated aneuploidy syndrome 1, Mosaic variegated aneuploidy syndrome 1
RS2037617604 PET117 Health Risk Likely pathogenic Mitochondrial complex IV deficiency, nuclear type 19
RS2037617658 USH2A Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2037622753 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS2037623971 GREB1L Health Risk Likely pathogenic Renal hypodysplasia/aplasia 3, Renal hypodysplasia/aplasia 3
RS2037655865 COL18A1 Health Risk Likely pathogenic —
RS2037658180 GLDN Health Risk Likely pathogenic Lethal congenital contracture syndrome 11, Lethal congenital contracture syndrome 11
RS2037658254 USH2A Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2037660713 GNAO1 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with involuntary movements, Inborn genetic diseases
RS2037679829 USH2A Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2037680211 USH2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Usher syndrome type 2A
RS2037681648 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS2037682180 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2A, Usher syndrome
RS2037684112 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2037684727 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS2037686445 USH2A Health Risk Pathogenic Usher syndrome, Retinitis pigmentosa 39
RS2037686992 BUB1B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Mosaic variegated aneuploidy syndrome 1
RS2037693105 BUB1B Health Risk Pathogenic Mosaic variegated aneuploidy syndrome 1, Mosaic variegated aneuploidy syndrome 1
RS2037693846 FOXP1 Health Risk Conflicting classifications of pathogenicity —
RS2037697286 POLR3B Health Risk Pathogenic —
RS2037702385 FOXP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability-severe speech delay-mild dysmorphism syndrome, Intellectual disability-severe speech delay-mild dysmorphism syndrome
RS2037704254 FOXP1 Health Risk Pathogenic Intellectual disability-severe speech delay-mild dysmorphism syndrome, Intellectual disability-severe speech delay-mild dysmorphism syndrome
RS2037707020 DHX30 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Neurodevelopmental disorder with severe motor impairment and absent language
RS2037724743 GNAO1 Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2037724762 GNAO1 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS2037726277 BUB1B Health Risk Likely pathogenic Mosaic variegated aneuploidy syndrome 1, Mosaic variegated aneuploidy syndrome 1
RS2037728032 BUB1B Health Risk Pathogenic Mosaic variegated aneuploidy syndrome 1, Mosaic variegated aneuploidy syndrome 1
RS2037743862 GNAO1 Health Risk Likely pathogenic Movement disorder, Movement disorder
RS2037750426 CIC Health Risk Likely pathogenic —
RS2037751886 ARL6 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2037752645 ARL6 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2037753806 CIC Health Risk Likely pathogenic CIC-related neurodevelopmental disorders, Intellectual disability
RS2037760415 USH2A Health Risk Pathogenic/Likely pathogenic Autosomal recessive retinitis pigmentosa, Usher syndrome
RS2037760521 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome, Usher syndrome type 2A
RS2037761675 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2037761776 USH2A Health Risk Pathogenic —
RS2037762589 USH2A Health Risk Likely pathogenic —
RS2037778050 PLCB4 Health Risk Likely pathogenic Auriculocondylar syndrome 2, Auriculocondylar syndrome 2
RS2037839447 POLR3B Health Risk Likely pathogenic Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism, Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
RS2037842612 STAC3 Health Risk Pathogenic —
RS2037850257 FOXP1 Health Risk Pathogenic Intellectual disability-severe speech delay-mild dysmorphism syndrome, Intellectual disability-severe speech delay-mild dysmorphism syndrome
RS2037850716 FOXP1 Health Risk Pathogenic Intellectual disability-severe speech delay-mild dysmorphism syndrome, Intellectual disability-severe speech delay-mild dysmorphism syndrome
RS2037850990 ABCC2 Health Risk Likely pathogenic —
RS2037853932 FOXP1 Health Risk Likely pathogenic Intellectual disability-severe speech delay-mild dysmorphism syndrome, Intellectual disability-severe speech delay-mild dysmorphism syndrome
RS2037865324 FOXP1 Health Risk Pathogenic Intellectual disability, Intellectual disability
RS2037884594 LOXHD1 Health Risk Likely pathogenic —
RS2037906065 FOXP1 Health Risk Pathogenic —
RS2037906616 POLR3B Health Risk Conflicting classifications of pathogenicity —
RS2037908174 FOXP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability-severe speech delay-mild dysmorphism syndrome, Autism spectrum disorder
RS2037919953 GNAO1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 17
RS2037920339 GNAO1 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS2037920369 GNAO1 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2037920534 GNAO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS2037920694 GNAO1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, Early-infantile DEE
RS2037920791 GNAO1 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
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