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
RS1568604308 RYR1 Health Risk Likely pathogenic Central core myopathy, Central core myopathy
RS1568604535 RYR1 Health Risk Likely pathogenic RYR1-related myopathy, RYR1-related myopathy
RS1568605042 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS1568605049 RYR1 Health Risk Likely pathogenic —
RS1568605182 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS1568605364 SEC23B Health Risk Pathogenic Congenital dyserythropoietic anemia, type II
RS1568605367 RYR1 Health Risk Conflicting classifications of pathogenicity —
RS1568606490 SEC23B Health Risk Pathogenic Cowden syndrome 7, Congenital dyserythropoietic anemia
RS1568606711 LDLR Health Risk Pathogenic Familial hypercholesterolemia, Familial hypercholesterolemia
RS1568610732 LDLR Health Risk Conflicting classifications of pathogenicity Familial hypercholesterolemia, Familial hypercholesterolemia
RS1568610747 LDLR Health Risk Pathogenic Familial hypercholesterolemia, Familial hypercholesterolemia
RS1568611362 RYR1 Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS1568611775 RYR1 Health Risk Likely pathogenic RYR1-related disorder, RYR1-related disorder
RS1568613061 RYR1 Health Risk Pathogenic/Likely pathogenic RYR1-related disorder, RYR1-related disorder
RS1568613113 RYR1 Health Risk Likely pathogenic —
RS1568613455 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS1568613962 RYR1 Health Risk Likely pathogenic Central core myopathy, Central core myopathy
RS1568614042 RYR1 Health Risk Pathogenic/Likely pathogenic Central core myopathy, RYR1-related disorder
RS1568614967 LDLR Health Risk Likely pathogenic —
RS1568615047 CRLS1 Health Risk Pathogenic Combined oxidative phosphorylation deficiency 57, Combined oxidative phosphorylation deficiency 57
RS1568617456 SEC23B Health Risk Pathogenic/Likely pathogenic Congenital dyserythropoietic anemia, type II
RS1568619900 GYS1 Health Risk Pathogenic Glycogen storage disease due to muscle and heart glycogen synthase deficiency, Glycogen storage disease due to muscle and heart glycogen synthase deficiency
RS1568620706 TCF4 Health Risk Pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS1568620774 TCF4 Health Risk Pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS1568621484 TTI1 Health Risk Pathogenic Neurodevelopmental disorder with microcephaly and movement abnormalities, Neurodevelopmental disorder with microcephaly and movement abnormalities
RS1568622225 TCF4 Health Risk Pathogenic Corneal dystrophy, Fuchs endothelial
RS1568624823 RTN2 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 12, Hereditary spastic paraplegia 12
RS1568625691 RTN2 Health Risk Likely pathogenic —
RS1568626209 CRX Health Risk Pathogenic Cone-rod dystrophy 2, Cone-rod dystrophy 2
RS1568626289 CRX Health Risk Likely pathogenic Leber congenital amaurosis 7, Leber congenital amaurosis 7
RS1568626490 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS1568630035 POLD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS1568630225 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS1568630477 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS1568636630 PIK3R2 Health Risk Likely pathogenic Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
RS1568636744 HNF1B Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, HNF1B-related disorder
RS1568637223 PIK3R2 Health Risk Likely pathogenic —
RS1568637783 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS1568639764 POLD1 Health Risk Conflicting classifications of pathogenicity Familial colorectal cancer, Hereditary cancer-predisposing syndrome
RS1568641291 HNF1B Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS1568645768 HNF1B Health Risk Pathogenic Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS1568654138 FERMT1 Health Risk Pathogenic Kindler syndrome, Kindler syndrome
RS1568658507 KCNB1 Health Risk Likely pathogenic Epileptic encephalopathy, Epileptic encephalopathy
RS1568658916 PNKP Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 12
RS1568659036 PNKP Health Risk Pathogenic Developmental and epileptic encephalopathy, 12
RS1568659847 CACNA1A Health Risk Pathogenic Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS1568660169 PNKP Health Risk Pathogenic Developmental and epileptic encephalopathy, 12
RS1568660279 PNKP Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1568662077 CACNA1A Health Risk Likely pathogenic Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS1568662343 PNKP Health Risk Likely pathogenic —
RS1568662444 NLRP12 Health Risk Likely pathogenic —
RS1568662687 MKKS Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS1568663209 PNKP Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 12
RS1568664272 HNF1B Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS1568664492 FERMT1 Health Risk Pathogenic Kindler syndrome, Kindler syndrome
RS1568665590 HNF1B Health Risk Pathogenic Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS1568665613 HNF1B Health Risk Uncertain risk allele Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS1568665905 HNF1B Health Risk Pathogenic Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS1568666242 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS1568666460 MKKS Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS1568667609 CCDC40 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 15
RS1568670479 HNF1B Health Risk Pathogenic Renal cysts and diabetes syndrome, Type 2 diabetes mellitus
RS1568670481 HNF1B Health Risk Pathogenic Renal cysts and diabetes syndrome, Maturity-onset diabetes of the young
RS1568670533 HNF1B Health Risk Likely pathogenic Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS1568670702 HNF1B Health Risk Pathogenic Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS1568670778 HNF1B Health Risk Uncertain significance/Uncertain risk allele Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS1568675935 HNF1B Health Risk Uncertain risk allele Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS1568689930 STK11 Health Risk Pathogenic Peutz-Jeghers syndrome, Peutz-Jeghers syndrome
RS1568689994 STK11 Health Risk Pathogenic Peutz-Jeghers syndrome, Peutz-Jeghers syndrome
RS1568690161 STK11 Health Risk Pathogenic Peutz-Jeghers syndrome, Peutz-Jeghers syndrome
RS1568690546 STK11 Health Risk Likely pathogenic Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS1568698487 PRKAR1A Health Risk Pathogenic Carney complex, type 1
RS1568698504 PRKAR1A Health Risk Pathogenic Carney complex, type 1
RS1568701332 ADNP Health Risk Conflicting classifications of pathogenicity ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS1568701362 PRKAR1A Health Risk Pathogenic Carney complex, type 1
RS1568702458 PRKAR1A Health Risk Likely pathogenic Carney complex, type 1
RS1568703403 RTEL1 Health Risk Pathogenic/Likely pathogenic Dyskeratosis congenita, autosomal recessive 5
RS1568703690 STK11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
RS1568704829 PRX Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 4, Inborn genetic diseases
RS1568705244 STK11 Health Risk Conflicting classifications of pathogenicity Peutz-Jeghers syndrome, Peutz-Jeghers syndrome
RS1568707185 PRX Health Risk Likely pathogenic Tip-toe gait, Tip-toe gait
RS1568707668 STK11 Health Risk Likely pathogenic Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS1568708275 STK11 Health Risk Conflicting classifications of pathogenicity Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS1568708382 STK11 Health Risk Conflicting classifications of pathogenicity Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS1568708792 PRX Health Risk Pathogenic Charcot-Marie-Tooth disease type 4F, Charcot-Marie-Tooth disease type 4F
RS1568709203 STK11 Health Risk Likely pathogenic —
RS1568709952 CCDC40 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1568710381 STK11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
RS1568710501 ADNP Health Risk Pathogenic ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS1568710507 ADNP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS1568710514 PRX Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS1568711950 ARFGEF2 Health Risk Pathogenic Periventricular heterotopia with microcephaly, autosomal recessive
RS1568717529 RTEL1 Health Risk Pathogenic Dyskeratosis congenita, autosomal recessive 5
RS1568718508 RIN2 Health Risk Likely pathogenic RIN2 syndrome, RIN2 syndrome
RS1568718517 DTNA Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Left ventricular noncompaction 1
RS1568720031 CACNA1A Health Risk Likely pathogenic —
RS1568721373 SLC52A3 Health Risk Pathogenic/Likely pathogenic Brown-Vialetto-van Laere syndrome 1, Inborn genetic diseases
RS1568722170 ADNP Health Risk Pathogenic ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS1568723797 ACTN4 Health Risk Likely pathogenic Focal segmental glomerulosclerosis 1, Focal segmental glomerulosclerosis 1
RS1568724014 HNF4A Health Risk Pathogenic Maturity-onset diabetes of the young type 1, Maturity-onset diabetes of the young
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