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
RS2138742488 SCN8A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2138748007 SCN8A Health Risk Conflicting classifications of pathogenicity Cognitive impairment with or without cerebellar ataxia, Early-infantile DEE
RS2138748076 SCN8A Health Risk Likely pathogenic —
RS2138748186 SCN8A Health Risk Likely pathogenic Inborn genetic diseases, Early-infantile DEE
RS2138748239 SCN8A Health Risk Pathogenic/Likely pathogenic Cognitive impairment with or without cerebellar ataxia, Early-infantile DEE
RS2138748264 SCN8A Health Risk Conflicting classifications of pathogenicity Cognitive impairment with or without cerebellar ataxia, Developmental and epileptic encephalopathy
RS2138750383 SCN8A Health Risk Likely pathogenic Cognitive impairment with or without cerebellar ataxia, Cognitive impairment with or without cerebellar ataxia
RS2138750473 SCN8A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2138765275 ATP8A2 Health Risk Likely pathogenic —
RS2138775370 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS2138787759 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS2138790657 REC8 Health Risk Pathogenic Azoospermia, Azoospermia
RS2138792385 MTRFR Health Risk Likely pathogenic Hereditary motor and sensory neuropathy with optic atrophy, Hereditary motor and sensory neuropathy with optic atrophy
RS2138794849 REC8 Health Risk Likely pathogenic Premature ovarian insufficiency, Premature ovarian insufficiency
RS2138800520 MTRFR Health Risk Pathogenic Combined oxidative phosphorylation defect type 7, Spastic paraplegia
RS2138814053 TTC5 Health Risk Pathogenic Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism, Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism
RS2138814108 TTC5 Health Risk Pathogenic Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism, Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism
RS2138832069 NFKBIA Health Risk Conflicting classifications of pathogenicity Ectodermal dysplasia and immunodeficiency 2, Ectodermal dysplasia and immunodeficiency 2
RS2138838820 SCN8A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2138843742 COCH Health Risk Pathogenic/Likely pathogenic —
RS2138844314 COCH Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss 9, Autosomal dominant nonsyndromic hearing loss 9
RS2138846618 COCH Health Risk Pathogenic —
RS2138851041 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS2138854011 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS2138857747 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS2138857842 SCN8A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 13
RS2138859417 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS2138862836 SCN8A Health Risk Pathogenic Cognitive impairment with or without cerebellar ataxia, Cognitive impairment with or without cerebellar ataxia
RS2138862858 SCN8A Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 13
RS2138862977 SCN8A Health Risk Likely pathogenic SCN8A-related disorder, SCN8A-related disorder
RS2138863024 SCN8A Health Risk Likely pathogenic Seizures, benign familial infantile
RS2138863154 SCN8A Health Risk Pathogenic Developmental and epileptic encephalopathy, 13
RS2138866856 SYT1 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2138868015 SCN8A Health Risk Pathogenic —
RS2138868851 SCN8A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2138870280 SCN8A Health Risk Likely pathogenic —
RS2138874584 NRL Health Risk Pathogenic —
RS2138875137 NRL Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS2138876322 NRL Health Risk Pathogenic —
RS2138878910 SCN8A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2138892868 SCN8A Health Risk Pathogenic —
RS2138892902 SCN8A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2138904112 SCN8A Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 13
RS2138904272 SCN8A Health Risk Pathogenic Developmental and epileptic encephalopathy, 13
RS2138904306 SCN8A Health Risk Likely pathogenic Autosomal recessive inheritance, Global developmental delay
RS2138904379 SCN8A Health Risk Conflicting classifications of pathogenicity Global developmental delay, Seizure
RS2138904397 SCN8A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2138904598 SCN8A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 13
RS2138908345 SCN8A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 13
RS2138909536 SCN8A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 13
RS2138909633 SCN8A Health Risk Likely pathogenic —
RS2138909650 SCN8A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2138909658 SCN8A Health Risk Likely pathogenic Cognitive impairment with or without cerebellar ataxia, Early-infantile DEE
RS2138919071 SCN8A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2138919119 SCN8A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2138919124 SCN8A Health Risk Likely pathogenic —
RS2138919129 SCN8A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2138919187 SCN8A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2138919240 SCN8A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2138919307 SCN8A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2138942209 SCN8A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS2138942373 SCN8A Health Risk Pathogenic/Likely pathogenic Cognitive impairment with or without cerebellar ataxia, Inborn genetic diseases
RS2138942487 SCN8A Health Risk Likely pathogenic See cases, See cases
RS2138942509 SCN8A Health Risk Likely pathogenic —
RS2138942542 SCN8A Health Risk Likely pathogenic Cognitive impairment with or without cerebellar ataxia, Cognitive impairment with or without cerebellar ataxia
RS2138942837 SCN8A Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2138942888 SCN8A Health Risk Likely pathogenic —
RS2138942971 SCN8A Health Risk Likely pathogenic —
RS2138943001 SCN8A Health Risk Likely pathogenic —
RS2138943320 SCN8A Health Risk Pathogenic/Likely pathogenic Cognitive impairment with or without cerebellar ataxia, Developmental and epileptic encephalopathy
RS2138944020 SCN8A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2138944124 SCN8A Health Risk Likely pathogenic Seizures, benign familial infantile
RS2138947313 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS2138948876 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS2138950870 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS2138953252 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS2138958110 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS2138967445 LIG4 Health Risk Likely pathogenic DNA ligase IV deficiency, DNA ligase IV deficiency
RS2138974645 LIG4 Health Risk Likely pathogenic DNA ligase IV deficiency, DNA ligase IV deficiency
RS2138974907 LIG4 Health Risk Pathogenic DNA ligase IV deficiency, DNA ligase IV deficiency
RS2138978193 LIG4 Health Risk Likely pathogenic DNA ligase IV deficiency, Inborn genetic diseases
RS2138978299 LIG4 Health Risk Pathogenic/Likely pathogenic DNA ligase IV deficiency, Multiple myeloma
RS2138980021 GPC6 Health Risk Pathogenic —
RS2139012188 PRKD1 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental delay, Congenital heart defects and ectodermal dysplasia
RS2139013779 TGM1 Health Risk Pathogenic —
RS2139018490 TGM1 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1
RS2139018911 TGM1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1
RS2139019079 TGM1 Health Risk Pathogenic —
RS2139019336 TGM1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1
RS2139019590 TGM1 Health Risk Pathogenic —
RS2139023246 TGM1 Health Risk Pathogenic —
RS2139023508 TGM1 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1
RS2139024222 TGM1 Health Risk Pathogenic —
RS2139024935 TGM1 Health Risk Likely pathogenic Congenital ichthyosiform erythroderma, Congenital ichthyosiform erythroderma
RS2139024981 TGM1 Health Risk Pathogenic —
RS2139025081 TGM1 Health Risk Pathogenic —
RS2139025289 TGM1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1
RS2139025384 TGM1 Health Risk Pathogenic —
RS2139025952 TGM1 Health Risk Pathogenic —
RS2139026104 TGM1 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1
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