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
RS2131630360 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS2131630556 WDR37 Health Risk Likely pathogenic Neurooculocardiogenitourinary syndrome, Neurooculocardiogenitourinary syndrome
RS2131630730 PHYH Health Risk Likely pathogenic —
RS2131633443 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2131634446 PHYH Health Risk Pathogenic/Likely pathogenic Phytanic acid storage disease, Phytanic acid storage disease
RS2131635386 SPTAN1 Health Risk Pathogenic Neuronopathy, distal hereditary motor
RS2131635932 TSC1 Health Risk Likely pathogenic —
RS2131636581 TG Health Risk Pathogenic —
RS2131637455 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2131637518 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2131639772 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2131640861 PHYH Health Risk Likely pathogenic —
RS2131642498 IFT74 Health Risk Pathogenic Joubert syndrome 40, Joubert syndrome 40
RS2131643055 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2131646026 WDR37 Health Risk Likely pathogenic Neurooculocardiogenitourinary syndrome, Neurooculocardiogenitourinary syndrome
RS2131647728 VPS13A Health Risk Pathogenic —
RS2131647862 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2131648737 DOCK8 Health Risk Pathogenic Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency
RS2131649330 DOCK8 Health Risk Pathogenic Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency
RS2131653908 POMT1 Health Risk Likely pathogenic —
RS2131654698 VPS13A Health Risk Pathogenic —
RS2131660732 KRIT1 Health Risk Pathogenic Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations, Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations
RS2131661125 PHYH Health Risk Likely pathogenic —
RS2131662142 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2131662647 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2131663679 COL27A1 Health Risk Pathogenic —
RS2131667389 COL27A1 Health Risk Likely pathogenic —
RS2131668162 MPDZ Health Risk Likely pathogenic Hydrocephalus, nonsyndromic
RS2131672013 POMT1 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2K, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS2131672039 CNGB3 Health Risk Pathogenic —
RS2131672289 ELN Health Risk Pathogenic/Likely pathogenic Supravalvar aortic stenosis, Supravalvar aortic stenosis
RS2131676374 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2131678418 COL27A1 Health Risk Likely pathogenic —
RS2131679103 SEPHS1 Health Risk Likely pathogenic VERVERI-BRADY SYNDROME 2, SEPHS1-related disorder
RS2131680472 PTF1A Health Risk Likely pathogenic —
RS2131682815 SPTAN1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 5
RS2131683250 POMT1 Health Risk Likely pathogenic —
RS2131684281 IFT74 Health Risk Pathogenic —
RS2131685158 CUX1 Health Risk Likely pathogenic Global developmental delay with or without impaired intellectual development, Global developmental delay with or without impaired intellectual development
RS2131685383 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS2131687178 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2131687509 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2131687580 CNGB3 Health Risk Pathogenic —
RS2131687967 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2131694424 RUSC2 Health Risk Pathogenic —
RS2131695386 NTRK2 Health Risk Likely pathogenic —
RS2131695601 RUSC2 Health Risk Pathogenic —
RS2131697094 CUBN Health Risk Pathogenic Proteinuria, chronic benign
RS2131700308 COL27A1 Health Risk Pathogenic —
RS2131702478 TSC1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 1
RS2131702709 TSC1 Health Risk Pathogenic —
RS2131703646 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS2131704033 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2131704085 TSC1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 1
RS2131706613 RUSC2 Health Risk Pathogenic —
RS2131706815 RUSC2 Health Risk Pathogenic —
RS2131707009 POMT1 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
RS2131707574 RUSC2 Health Risk Pathogenic —
RS2131708207 POMT1 Health Risk Pathogenic —
RS2131708682 POMT1 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
RS2131709148 TRAPPC9 Health Risk Pathogenic —
RS2131710574 TSC1 Health Risk Likely pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2131710621 TSC1 Health Risk Likely pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2131714307 TRAPPC9 Health Risk Pathogenic Intellectual disability, autosomal recessive 13
RS2131714597 TRAPPC9 Health Risk Pathogenic Autosomal recessive non-syndromic intellectual disability, Autosomal recessive non-syndromic intellectual disability
RS2131720596 MUSK Health Risk Pathogenic Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 9
RS2131727338 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Tuberous sclerosis 1
RS2131728806 TSC1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2131731349 PAPSS2 Health Risk Likely pathogenic Spondyloepimetaphyseal dysplasia, PAPSS2 type
RS2131732455 PAPSS2 Health Risk Pathogenic Spondyloepimetaphyseal dysplasia, PAPSS2 type
RS2131732940 PAPSS2 Health Risk Likely pathogenic Spondyloepimetaphyseal dysplasia, PAPSS2 type
RS2131734694 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2131739882 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2131740538 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS2131741069 TSC1 Health Risk Likely pathogenic See cases, See cases
RS2131741904 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2131742187 TSC1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 1
RS2131744077 SPTAN1 Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2131744948 ZMYND11 Health Risk Pathogenic Intellectual disability, autosomal dominant 30
RS2131745242 PLEC Health Risk Pathogenic Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex with nail dystrophy
RS2131749139 POMT1 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2K, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS2131751359 POMT1 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS2131755289 HR Health Risk Pathogenic Alopecia universalis congenita, Alopecia universalis congenita
RS2131756993 HR Health Risk Pathogenic Atrichia with papular lesions, Atrichia with papular lesions
RS2131760465 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2131764067 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2131765460 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2131767962 PLEC Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex 5C
RS2131772658 PLEC Health Risk Pathogenic Epidermolysis bullosa simplex 5C, with pyloric atresia
RS2131773288 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2131773689 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2131773916 C5 Health Risk Pathogenic —
RS2131773933 CHST3 Health Risk Pathogenic Spondyloepiphyseal dysplasia with congenital joint dislocations, Spondyloepiphyseal dysplasia with congenital joint dislocations
RS2131774158 CHST3 Health Risk Pathogenic Spondyloepiphyseal dysplasia with congenital joint dislocations, Spondyloepiphyseal dysplasia with congenital joint dislocations
RS2131774270 DCLRE1C Health Risk Pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency, Severe combined immunodeficiency due to DCLRE1C deficiency
RS2131774414 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2131774841 CHST3 Health Risk Likely pathogenic Spondyloepiphyseal dysplasia with congenital joint dislocations, Spondyloepiphyseal dysplasia with congenital joint dislocations
RS2131775466 DCLRE1C Health Risk Pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency, Severe combined immunodeficiency due to DCLRE1C deficiency
RS2131775605 DCLRE1C Health Risk Pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency, Severe combined immunodeficiency due to DCLRE1C deficiency
RS2131775994 DCLRE1C Health Risk Pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency, DCLRE1C-related disorder
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