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
RS2543260887 NR2E3 Health Risk Likely pathogenic Enhanced S-cone syndrome, Enhanced S-cone syndrome
RS2543260917 NR2E3 Health Risk Likely pathogenic Enhanced S-cone syndrome, Enhanced S-cone syndrome
RS2543260923 NR2E3 Health Risk Pathogenic —
RS2543260949 NR2E3 Health Risk Likely pathogenic Enhanced S-cone syndrome, Enhanced S-cone syndrome
RS2543261057 NR2E3 Health Risk Likely pathogenic Enhanced S-cone syndrome, Enhanced S-cone syndrome
RS2543271885 KATNIP Health Risk Likely pathogenic —
RS2543274107 KIAA0586 Health Risk Pathogenic Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23
RS2543280292 DICER1 Health Risk Likely pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS2543280318 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS2543281741 DICER1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2543283130 DICER1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2543283985 DICER1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2543285003 DICER1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition
RS2543285034 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS2543300182 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS2543303455 DICER1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2543306507 BRF1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2543315704 KATNIP Health Risk Pathogenic —
RS2543324220 CHFR Health Risk Likely pathogenic —
RS2543330924 PRRT2 Health Risk Pathogenic Episodic kinesigenic dyskinesia 1, Episodic kinesigenic dyskinesia 1
RS2543331293 PRRT2 Health Risk Pathogenic Episodic kinesigenic dyskinesia, Episodic kinesigenic dyskinesia
RS2543332388 PRRT2 Health Risk Pathogenic Episodic kinesigenic dyskinesia, Infantile convulsions and choreoathetosis
RS2543332495 PRRT2 Health Risk Pathogenic Episodic kinesigenic dyskinesia, Episodic kinesigenic dyskinesia
RS2543332802 PRRT2 Health Risk Pathogenic Episodic kinesigenic dyskinesia, Episodic kinesigenic dyskinesia
RS2543333035 PRRT2 Health Risk Pathogenic Seizures, benign familial infantile
RS2543333105 PRRT2 Health Risk Pathogenic Episodic kinesigenic dyskinesia, Episodic kinesigenic dyskinesia
RS2543333163 PRRT2 Health Risk Pathogenic Episodic kinesigenic dyskinesia, Episodic kinesigenic dyskinesia
RS2543333592 PRRT2 Health Risk Pathogenic Episodic kinesigenic dyskinesia, Episodic kinesigenic dyskinesia
RS2543333664 PRRT2 Health Risk Likely pathogenic Episodic kinesigenic dyskinesia 1, Episodic kinesigenic dyskinesia 1
RS2543333841 PRRT2 Health Risk Pathogenic Episodic kinesigenic dyskinesia, Episodic kinesigenic dyskinesia
RS2543334077 PRRT2 Health Risk Likely pathogenic Seizures, benign familial infantile
RS2543334112 PRRT2 Health Risk Pathogenic Episodic kinesigenic dyskinesia, Episodic kinesigenic dyskinesia
RS2543334133 PRRT2 Health Risk Likely pathogenic Episodic kinesigenic dyskinesia 1, Episodic kinesigenic dyskinesia 1
RS2543334187 PRRT2 Health Risk Conflicting classifications of pathogenicity Seizures, benign familial infantile
RS2543334257 PRRT2 Health Risk Pathogenic Episodic kinesigenic dyskinesia, Episodic kinesigenic dyskinesia
RS2543334612 KIAA0586 Health Risk Likely pathogenic Joubert syndrome and related disorders, Joubert syndrome and related disorders
RS2543335373 PRRT2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2543335595 PRRT2 Health Risk Pathogenic Episodic kinesigenic dyskinesia 1, Episodic kinesigenic dyskinesia
RS2543335628 PRRT2 Health Risk Pathogenic Episodic kinesigenic dyskinesia 1, Episodic kinesigenic dyskinesia 1
RS2543336096 PRRT2 Health Risk Pathogenic Episodic kinesigenic dyskinesia, Episodic kinesigenic dyskinesia
RS2543336371 PRRT2 Health Risk Likely pathogenic Seizures, benign familial infantile
RS2543338795 PRRT2 Health Risk Pathogenic Episodic kinesigenic dyskinesia, Episodic kinesigenic dyskinesia
RS2543338879 PRRT2 Health Risk Pathogenic Episodic kinesigenic dyskinesia, Episodic kinesigenic dyskinesia
RS2543339003 PRRT2 Health Risk Pathogenic Episodic kinesigenic dyskinesia, Episodic kinesigenic dyskinesia
RS2543339033 PRRT2 Health Risk Pathogenic Episodic kinesigenic dyskinesia, Episodic kinesigenic dyskinesia
RS2543339322 PRRT2 Health Risk Pathogenic Episodic kinesigenic dyskinesia, Episodic kinesigenic dyskinesia
RS2543339394 PRRT2 Health Risk Pathogenic Episodic kinesigenic dyskinesia, Episodic kinesigenic dyskinesia
RS2543339445 PRRT2 Health Risk Likely pathogenic Seizures, benign familial infantile
RS2543339470 PRRT2 Health Risk Pathogenic Episodic kinesigenic dyskinesia, Episodic kinesigenic dyskinesia
RS2543342690 DICER1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition
RS2543343522 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS2543344129 DICER1 Health Risk Likely pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS2543346495 IL21R Health Risk Pathogenic Cryptosporidiosis-chronic cholangitis-liver disease syndrome, Cryptosporidiosis-chronic cholangitis-liver disease syndrome
RS2543365910 DICER1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition
RS2543366632 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS2543368785 DICER1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, DICER1-related disorder
RS2543369039 KATNIP Health Risk Likely pathogenic Joubert syndrome 26, Ovarian serous cystadenocarcinoma
RS2543373409 DICER1 Health Risk Likely pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS2543375994 KIAA0586 Health Risk Likely pathogenic Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23
RS2543384162 IL21R Health Risk Likely pathogenic Cryptosporidiosis-chronic cholangitis-liver disease syndrome, Cryptosporidiosis-chronic cholangitis-liver disease syndrome
RS2543388582 DICER1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome
RS2543395293 GPHN Health Risk Likely pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
RS2543399660 KIAA0586 Health Risk Pathogenic Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly
RS2543399761 KIAA0586 Health Risk Pathogenic Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23
RS2543401310 ZEB1 Health Risk Pathogenic —
RS2543402379 GPHN Health Risk Likely pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
RS2543402445 GPHN Health Risk Likely pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
RS2543402851 GPHN Health Risk Pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
RS2543406965 DNAAF4 Health Risk Pathogenic Primary ciliary dyskinesia 25, Primary ciliary dyskinesia 25
RS2543413175 KATNIP Health Risk Pathogenic —
RS2543413509 KATNIP Health Risk Pathogenic —
RS2543427201 GNAO1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 17
RS2543427284 GNAO1 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2543432061 GNAO1 Health Risk Likely pathogenic Neurodevelopmental disorder with involuntary movements, Neurodevelopmental disorder with involuntary movements
RS2543432139 GNAO1 Health Risk Likely pathogenic —
RS2543432175 GNAO1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 17
RS2543432214 GNAO1 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS2543432234 GNAO1 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 17
RS2543436772 CFAP20 Health Risk Likely pathogenic Rod-cone dystrophy, Rod-cone dystrophy
RS2543443299 GALNS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS2543443583 SERPINF2 Health Risk Pathogenic Alpha-2-plasmin inhibitor deficiency, Alpha-2-plasmin inhibitor deficiency
RS2543444470 GALNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-A
RS2543448397 CTCF Health Risk Likely pathogenic CTCF-related neurodevelopmental disorder, CTCF-related neurodevelopmental disorder
RS2543449141 PHKG2 Health Risk Pathogenic Glycogen storage disease IXc, Glycogen storage disease IXc
RS2543449200 PHKG2 Health Risk Pathogenic Glycogen storage disease IXc, Glycogen storage disease IXc
RS2543449850 CTCF Health Risk Likely pathogenic CTCF-related neurodevelopmental disorder, CTCF-related neurodevelopmental disorder
RS2543451915 CTCF Health Risk Likely pathogenic CTCF-related neurodevelopmental disorder, CTCF-related neurodevelopmental disorder
RS2543452309 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS2543456237 PHKG2 Health Risk Likely pathogenic Glycogen storage disease IXc, Glycogen storage disease IXc
RS2543458244 CHMP1A Health Risk Likely pathogenic Pontocerebellar hypoplasia type 8, Pontocerebellar hypoplasia type 8
RS2543462025 PHKG2 Health Risk Pathogenic Glycogen storage disease IXc, Glycogen storage disease IXc
RS2543462043 PHKG2 Health Risk Likely pathogenic Glycogen storage disease IXc, Glycogen storage disease IXc
RS2543462726 CTCF Health Risk Likely pathogenic —
RS2543466489 DRC4 Health Risk Pathogenic Primary ciliary dyskinesia 33, Primary ciliary dyskinesia 33
RS2543468782 SLC12A3 Health Risk Pathogenic —
RS2543469765 PHKG2 Health Risk Pathogenic Glycogen storage disease IXc, Glycogen storage disease IXc
RS2543470300 SERPINF1 Health Risk Likely pathogenic Osteogenesis imperfecta type 6, Osteogenesis imperfecta type 6
RS2543470606 PHKG2 Health Risk Pathogenic Glycogen storage disease IXc, Glycogen storage disease IXc
RS2543470691 PHKG2 Health Risk Pathogenic Glycogen storage disease IXc, Glycogen storage disease IXc
RS2543470728 CTCF Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
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