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
RS2132068900 DNAI1 Health Risk Likely pathogenic Primary ciliary dyskinesia, Kartagener syndrome
RS2132071763 TRIM32 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2132071947 DNAI1 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2132072043 TRIM32 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2132072131 DNAI1 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Kartagener syndrome
RS2132072315 TRIM32 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Sarcotubular myopathy
RS2132073231 LRSAM1 Health Risk Pathogenic Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P
RS2132075143 TRIM32 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2132075382 TRIM32 Health Risk Pathogenic Sarcotubular myopathy, Sarcotubular myopathy
RS2132076740 DNAI1 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2132076769 DNAI1 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2132076876 DNAI1 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2132076893 DNAI1 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2132077044 DNAI1 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2132079396 ELN Health Risk Pathogenic Supravalvar aortic stenosis, Supravalvar aortic stenosis
RS2132081341 DNAI1 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2132081428 NPR2 Health Risk Pathogenic Tall stature-scoliosis-macrodactyly of the great toes syndrome, Tall stature-scoliosis-macrodactyly of the great toes syndrome
RS2132081705 DNAI1 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2132081744 NPR2 Health Risk Likely pathogenic Acromesomelic dysplasia 1, Maroteaux type
RS2132082177 NPR2 Health Risk Pathogenic Disproportionate short stature, Disproportionate short stature
RS2132082975 NPR2 Health Risk Pathogenic Acromesomelic dysplasia 1, Maroteaux type
RS2132083804 DNAI1 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2132083938 DNAI1 Health Risk Likely pathogenic Kartagener syndrome, Kartagener syndrome
RS2132084012 DNAI1 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2132084260 AUH Health Risk Pathogenic —
RS2132085924 ANK3 Health Risk Likely pathogenic Abnormality of the nervous system, Abnormality of the nervous system
RS2132086408 DNAI1 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2132086495 DNAI1 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2132086965 PLEC Health Risk Likely pathogenic Abnormality of the skin, Abnormality of the skin
RS2132088836 SPTAN1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 5
RS2132089475 SPTAN1 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS2132089495 NPR2 Health Risk Conflicting classifications of pathogenicity Acromesomelic dysplasia 1, Maroteaux type
RS2132089667 SPTAN1 Health Risk Likely pathogenic —
RS2132089818 SPTAN1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 5
RS2132090317 NPR2 Health Risk Likely pathogenic Acromesomelic dysplasia 1, Maroteaux type
RS2132090376 NPR2 Health Risk Likely pathogenic Acromesomelic dysplasia 1, Maroteaux type
RS2132090468 NPR2 Health Risk Likely pathogenic Acromesomelic dysplasia 1, Maroteaux type
RS2132090668 SPTAN1 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2132090998 NPR2 Health Risk Pathogenic Tall stature-scoliosis-macrodactyly of the great toes syndrome, Acromesomelic dysplasia 1
RS2132094719 ZMIZ1 Health Risk Pathogenic/Likely pathogenic Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies, Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies
RS2132094752 SPTAN1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, Developmental disorder
RS2132101022 NPR2 Health Risk Pathogenic Short stature with nonspecific skeletal abnormalities, Short stature with nonspecific skeletal abnormalities
RS2132103556 MICU1 Health Risk Likely pathogenic —
RS2132104341 KIFBP Health Risk Pathogenic Goldberg-Shprintzen syndrome, Goldberg-Shprintzen syndrome
RS2132105386 SPTAN1 Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2132106592 SPTAN1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 5
RS2132107869 SPTAN1 Health Risk Conflicting classifications of pathogenicity Seizure, Early-infantile DEE
RS2132110332 LRSAM1 Health Risk Likely pathogenic Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P
RS2132118237 PLEC Health Risk Likely pathogenic —
RS2132119741 KIFBP Health Risk Pathogenic Goldberg-Shprintzen syndrome, Goldberg-Shprintzen syndrome
RS2132120181 KIFBP Health Risk Likely pathogenic Goldberg-Shprintzen syndrome, Goldberg-Shprintzen syndrome
RS2132125704 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2132128455 LRSAM1 Health Risk Likely pathogenic Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P
RS2132128518 LRSAM1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P
RS2132128897 AUH Health Risk Pathogenic 3-methylglutaconic aciduria type 1, 3-methylglutaconic aciduria type 1
RS2132132474 FBXO43 Health Risk Pathogenic Oocyte maturation defect 12, Oocyte maturation defect 12
RS2132133868 LRSAM1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2P, Inborn genetic diseases
RS2132134052 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2132135741 ELN Health Risk Pathogenic Supravalvar aortic stenosis, Supravalvar aortic stenosis
RS2132138452 FBXO43 Health Risk Pathogenic Oocyte maturation defect 12, Oocyte maturation defect 12
RS2132139965 SFTPA1 Health Risk Pathogenic Interstitial lung disease 1, Interstitial lung disease 1
RS2132140058 SFTPA1 Health Risk Pathogenic Interstitial lung disease 1, Interstitial lung disease 1
RS2132140607 SFTPA1 Health Risk Pathogenic Interstitial lung disease 1, Interstitial lung disease 1
RS2132144454 PTEN Health Risk Pathogenic Hamartomatous polyposis, Hamartomatous polyposis
RS2132145338 PTEN Health Risk Likely pathogenic Cowden syndrome 1, Cowden syndrome 1
RS2132145343 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS2132145444 PTEN Health Risk Pathogenic/Likely pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS2132145451 PTEN Health Risk Likely pathogenic Macrocephaly-autism syndrome, PTEN hamartoma tumor syndrome
RS2132145483 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS2132145655 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS2132145679 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS2132145750 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, Cowden syndrome 1
RS2132145816 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS2132145926 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, Cowden syndrome 1
RS2132146122 PTEN Health Risk Likely pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS2132146546 DYNC2I2 Health Risk Pathogenic/Likely pathogenic Short-rib thoracic dysplasia 11 with or without polydactyly, Short-rib thoracic dysplasia 11 with or without polydactyly
RS2132148804 TSC1 Health Risk Likely pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2132149285 TSC1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2132155831 DYNC2I2 Health Risk Pathogenic Short-rib thoracic dysplasia 11 with or without polydactyly, Short-rib thoracic dysplasia 11 with or without polydactyly
RS2132156045 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2132157246 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2132157980 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2132161155 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS2132161209 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2132161816 CFAP418 Health Risk Pathogenic —
RS2132162807 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS2132171444 CFAP418 Health Risk Pathogenic —
RS2132171826 CFAP418 Health Risk Pathogenic —
RS2132185885 TSC1 Health Risk Pathogenic/Likely pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2132185994 TSC1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 1
RS2132186952 PTEN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome
RS2132187034 PTEN Health Risk Likely pathogenic PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome
RS2132187062 PTEN Health Risk Pathogenic Cowden syndrome 1, Cowden syndrome 1
RS2132187252 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2132187278 PTEN Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2132187310 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS2132187379 PTEN Health Risk Conflicting classifications of pathogenicity PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome
RS2132187390 PTEN Health Risk Conflicting classifications of pathogenicity PTEN hamartoma tumor syndrome, Neoplasm
RS2132187641 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS2132187838 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
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