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
RS121917984 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Generalized epilepsy with febrile seizures plus
RS121917985 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Early-infantile DEE
RS121917986 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Inborn genetic diseases
RS121917987 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Early-infantile DEE
RS121917989 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS121917990 SCN1A Health Risk Pathogenic Generalized epilepsy, Severe myoclonic epilepsy in infancy
RS121917992 SCN1A Health Risk Conflicting classifications of pathogenicity Focal epilepsy, Severe myoclonic epilepsy in infancy
RS121917993 SCN1A Health Risk Likely pathogenic Focal epilepsy, Generalized epilepsy with febrile seizures plus
RS121917994 SCN1A Health Risk Likely pathogenic Focal epilepsy, Microcephaly
RS121917995 SCN1A Health Risk Likely pathogenic Macrocephaly and epileptic encephalopathy, Inborn genetic diseases
RS121917996 SCN1A Health Risk Pathogenic Myoclonic encephalopathy, Early-infantile DEE
RS121918000 ALPL Health Risk Pathogenic Infantile hypophosphatasia, Hypophosphatasia
RS121918001 ALPL Health Risk Pathogenic/Likely pathogenic Infantile hypophosphatasia, Adult hypophosphatasia
RS121918002 ALPL Health Risk Likely pathogenic Infantile hypophosphatasia, Childhood hypophosphatasia
RS121918003 ALPL Health Risk Pathogenic Infantile hypophosphatasia, Adult hypophosphatasia
RS121918004 ALPL Health Risk Pathogenic/Likely pathogenic Infantile hypophosphatasia, Hypophosphatasia
RS121918005 ALPL Health Risk Likely pathogenic Infantile hypophosphatasia, Hypophosphatasia
RS121918006 ALPL Health Risk Conflicting classifications of pathogenicity Infantile hypophosphatasia, Hypophosphatasia
RS121918007 ALPL Health Risk Likely pathogenic Infantile hypophosphatasia, Childhood hypophosphatasia
RS121918008 ALPL Health Risk Pathogenic Adult hypophosphatasia, Infantile hypophosphatasia
RS121918009 ALPL Health Risk Pathogenic/Likely pathogenic Infantile hypophosphatasia, Hypophosphatasia
RS121918010 ALPL Health Risk Pathogenic/Likely pathogenic Infantile hypophosphatasia, Adult hypophosphatasia
RS121918011 ALPL Health Risk Likely pathogenic Childhood hypophosphatasia, Infantile hypophosphatasia
RS121918012 ALPL Health Risk Pathogenic Childhood hypophosphatasia, Infantile hypophosphatasia
RS121918013 ALPL Health Risk Likely pathogenic Odontohypophosphatasia, Childhood hypophosphatasia
RS121918014 ALPL Health Risk Pathogenic/Likely pathogenic Infantile hypophosphatasia, Perinatal lethal hypophosphatasia
RS121918015 ALPL Health Risk Pathogenic Odontohypophosphatasia, Hypophosphatasia
RS121918016 ALPL Health Risk Pathogenic/Likely pathogenic Infantile hypophosphatasia, Hypophosphatasia
RS121918017 ALPL Health Risk Conflicting classifications of pathogenicity Infantile hypophosphatasia, Hypophosphatasia
RS121918018 ALPL Health Risk Conflicting classifications of pathogenicity Childhood hypophosphatasia, Odontohypophosphatasia
RS121918019 ALPL Health Risk Pathogenic/Likely pathogenic Infantile hypophosphatasia, Childhood hypophosphatasia
RS121918020 ALPL Health Risk Pathogenic Infantile hypophosphatasia, Childhood hypophosphatasia
RS121918021 PHKB Health Risk Pathogenic Glycogen storage disease IXb, Glycogen phosphorylase kinase deficiency
RS121918022 PHKB Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXb, Glycogen storage disease IXb
RS121918023 ENPP1 Health Risk Pathogenic Arterial calcification, generalized
RS121918024 ENPP1 Health Risk Likely pathogenic Arterial calcification, generalized
RS121918025 ENPP1 Health Risk Pathogenic/Likely pathogenic Arterial calcification, generalized
RS121918026 ENPP1 Health Risk Pathogenic Arterial calcification, generalized
RS121918027 PLG Health Risk Conflicting classifications of pathogenicity Dysplasminogenemia, Plasminogen deficiency
RS121918028 PLG Health Risk Pathogenic Dysplasminogenemia, Dysplasminogenemia
RS121918029 PLG Health Risk Pathogenic Dysplasminogenemia, Dysplasminogenemia
RS121918030 PLG Health Risk Pathogenic Plasminogen deficiency, type I
RS121918031 PLG Health Risk Pathogenic Plasminogen deficiency, type I
RS121918032 PLG Health Risk Pathogenic Plasminogen deficiency, type I
RS121918035 CD36 Health Risk Pathogenic Platelet-type bleeding disorder 10, Platelet-type bleeding disorder 10
RS121918036 GP9 Health Risk Pathogenic Bernard-Soulier syndrome type C, Bernard-Soulier syndrome type C
RS121918037 GP9 Health Risk Pathogenic/Likely pathogenic Bernard-Soulier syndrome type C, Macrothrombocytopenia
RS121918038 GP9 Health Risk Likely pathogenic Bernard-Soulier syndrome type C, Bernard Soulier syndrome
RS121918039 PKD2 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS121918040 PKD2 Health Risk Pathogenic Polycystic kidney disease 2, Autosomal dominant polycystic kidney disease
RS121918041 PKD2 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS121918042 PKD2 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease
RS121918043 PKD2 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS121918044 POLG Health Risk Pathogenic/Likely pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
RS121918045 POLG Health Risk Pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
RS121918046 POLG Health Risk Pathogenic Sensory ataxic neuropathy, dysarthria
RS121918047 POLG Health Risk Pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS121918048 POLG Health Risk Pathogenic Sensory ataxic neuropathy, dysarthria
RS121918049 POLG Health Risk Conflicting classifications of pathogenicity Sensory ataxic neuropathy, dysarthria
RS121918050 POLG Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 4b, Progressive sclerosing poliodystrophy
RS121918051 POLG Health Risk Pathogenic/Likely pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
RS121918053 POLG Health Risk Likely pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
RS121918054 POLG Health Risk Conflicting classifications of pathogenicity Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
RS121918055 POLG Health Risk Pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
RS121918056 POLG Health Risk Pathogenic/Likely pathogenic Mitochondrial DNA depletion syndrome 4b, Progressive sclerosing poliodystrophy
RS121918057 UROD Health Risk Pathogenic Familial porphyria cutanea tarda, Hepatoerythropoietic porphyria
RS121918059 UROD Health Risk Pathogenic Hepatoerythropoietic porphyria, Hepatoerythropoietic porphyria
RS121918060 UROD Health Risk Pathogenic Hepatoerythropoietic porphyria, Hepatoerythropoietic porphyria
RS121918061 UROD Health Risk Conflicting classifications of pathogenicity Hepatoerythropoietic porphyria, Sporadic porphyria cutanea tarda
RS121918062 UROD Health Risk Likely pathogenic Familial porphyria cutanea tarda, UROD-related disorder
RS121918063 UROD Health Risk Pathogenic/Likely pathogenic Familial porphyria cutanea tarda, Familial porphyria cutanea tarda
RS121918064 UROD Health Risk Pathogenic Familial porphyria cutanea tarda, Familial porphyria cutanea tarda
RS121918065 UROD Health Risk Pathogenic Familial porphyria cutanea tarda, Familial porphyria cutanea tarda
RS121918066 UROD Health Risk Conflicting classifications of pathogenicity Familial porphyria cutanea tarda, Familial porphyria cutanea tarda
RS121918067 KCNA1 Health Risk Pathogenic Myokymia 1 with hypomagnesemia, Myokymia 1 with hypomagnesemia
RS121918068 TTR Health Risk Pathogenic Amyloidosis, hereditary systemic 1
RS121918069 TTR Health Risk Pathogenic Amyloidosis, hereditary systemic 1
RS121918070 TTR Health Risk Pathogenic/Likely pathogenic Amyloidosis, hereditary systemic 1
RS121918071 TTR Health Risk Pathogenic Amyloidosis, hereditary systemic 1
RS121918072 TTR Health Risk Pathogenic Amyloidosis, hereditary systemic 1
RS121918073 TTR Health Risk Likely pathogenic Amyloidosis, hereditary systemic 1
RS121918074 TTR Health Risk Pathogenic/Likely pathogenic Amyloidosis, hereditary systemic 1
RS121918075 TTR Health Risk Pathogenic Amyloidosis, hereditary systemic 1
RS121918076 TTR Health Risk Pathogenic Amyloidosis, hereditary systemic 1
RS121918077 TTR Health Risk Pathogenic Amyloidosis, hereditary systemic 1
RS121918078 TTR Health Risk Pathogenic/Likely pathogenic Amyloidosis, hereditary systemic 1
RS121918079 TTR Health Risk Pathogenic Amyloidosis, hereditary systemic 1
RS121918080 TTR Health Risk Pathogenic Amyloidosis, hereditary systemic 1
RS121918081 TTR Health Risk Pathogenic Amyloidosis, hereditary systemic 1
RS121918082 TTR Health Risk Pathogenic/Likely pathogenic Amyloidosis, hereditary systemic 1
RS121918083 TTR Health Risk Pathogenic/Likely pathogenic Amyloidosis, hereditary systemic 1
RS121918084 TTR Health Risk Pathogenic/Likely pathogenic Amyloidosis, hereditary systemic 1
RS121918085 TTR Health Risk Pathogenic/Likely pathogenic Amyloidosis, hereditary systemic 1
RS121918086 TTR Health Risk Likely pathogenic Amyloidosis, hereditary systemic 1
RS121918087 TTR Health Risk Likely pathogenic Amyloidosis, hereditary systemic 1
RS121918088 TTR Health Risk Pathogenic Carpal tunnel syndrome 1, Carpal tunnel syndrome 1
RS121918089 TTR Health Risk Pathogenic/Likely pathogenic Amyloidosis, hereditary systemic 1
RS121918090 TTR Health Risk Pathogenic/Likely pathogenic Amyloidosis, hereditary systemic 1
RS121918091 TTR Health Risk Pathogenic Amyloidosis, hereditary systemic 1
RS121918093 TTR Health Risk Pathogenic Amyloidosis, hereditary systemic 1
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