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
RS2543732310 BBS2 Health Risk Likely pathogenic Bardet-Biedl syndrome 2, Bardet-Biedl syndrome 2
RS2543732389 TSC2 Health Risk Likely pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2543732694 CDH3 Health Risk Pathogenic —
RS2543733239 BBS2 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2543733261 BBS2 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2543733379 BBS2 Health Risk Likely pathogenic Bardet-Biedl syndrome 2, Bardet-Biedl syndrome 2
RS2543733512 PRPF8 Health Risk Pathogenic —
RS2543733652 BBS2 Health Risk Likely pathogenic Bardet-Biedl syndrome 2, Bardet-Biedl syndrome 2
RS2543733653 PRPF8 Health Risk Likely pathogenic Retinitis pigmentosa 13, Retinitis pigmentosa 13
RS2543733677 BBS2 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2543734023 PRPF8 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder, Retinitis pigmentosa 13
RS2543734076 PRPF8 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2543735986 CDH3 Health Risk Pathogenic —
RS2543737772 TCAP Health Risk Pathogenic Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 25
RS2543737997 TCAP Health Risk Pathogenic Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy
RS2543739837 TCAP Health Risk Likely pathogenic Hypertrophic cardiomyopathy 25, Hypertrophic cardiomyopathy 25
RS2543740092 TCAP Health Risk Likely pathogenic —
RS2543741194 BBS2 Health Risk Likely pathogenic Bardet-Biedl syndrome 2, Bardet-Biedl syndrome 2
RS2543741333 BBS2 Health Risk Likely pathogenic Bardet-Biedl syndrome 2, Bardet-Biedl syndrome 2
RS2543741373 BBS2 Health Risk Likely pathogenic Bardet-Biedl syndrome 2, Bardet-Biedl syndrome 2
RS2543741648 BBS2 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2543741926 BBS2 Health Risk Likely pathogenic Bardet-Biedl syndrome 2, Bardet-Biedl syndrome 2
RS2543742094 BBS2 Health Risk Likely pathogenic Bardet-Biedl syndrome 2, Bardet-Biedl syndrome
RS2543747294 SPG7 Health Risk Pathogenic Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7
RS2543747439 ADAMTS18 Health Risk Pathogenic —
RS2543751507 CORO1A Health Risk Likely pathogenic Severe combined immunodeficiency due to CORO1A deficiency, Severe combined immunodeficiency due to CORO1A deficiency
RS2543751607 WRAP53 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal recessive 3
RS2543751945 CORO1A Health Risk Likely pathogenic Sinoatrial node disorder, Sinoatrial node disorder
RS2543754551 SPG7 Health Risk Pathogenic Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7
RS2543755742 BBS2 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2543755846 CORO1A Health Risk Pathogenic Severe combined immunodeficiency due to CORO1A deficiency, Severe combined immunodeficiency due to CORO1A deficiency
RS2543756421 ADAMTS18 Health Risk Pathogenic —
RS2543756633 CORO1A Health Risk Likely pathogenic Severe combined immunodeficiency due to CORO1A deficiency, Severe combined immunodeficiency due to CORO1A deficiency
RS2543759733 PGAP3 Health Risk Likely pathogenic Hyperphosphatasia with intellectual disability syndrome 4, Hyperphosphatasia with intellectual disability syndrome 4
RS2543762704 KIAA0586 Health Risk Likely pathogenic Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly
RS2543763064 PGAP3 Health Risk Pathogenic —
RS2543764233 TSC2 Health Risk Likely pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2543764309 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis syndrome
RS2543765063 PRPF8 Health Risk Likely pathogenic —
RS2543765087 SPG7 Health Risk Pathogenic Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7
RS2543765843 SPG7 Health Risk Likely pathogenic —
RS2543765925 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Lymphangiomyomatosis
RS2543766832 SPG7 Health Risk Pathogenic Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7
RS2543767299 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2543769726 ACSF3 Health Risk Likely pathogenic Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS2543770057 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2543770114 ACSF3 Health Risk Likely pathogenic Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS2543770251 ACSF3 Health Risk Likely pathogenic Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS2543770258 PRPF8 Health Risk Pathogenic —
RS2543770296 ACSF3 Health Risk Likely pathogenic Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS2543770313 ACSF3 Health Risk Likely pathogenic Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS2543770473 ZEB1 Health Risk Pathogenic/Likely pathogenic Posterior polymorphous corneal dystrophy 3, Posterior polymorphous corneal dystrophy 3
RS2543773918 PRPF8 Health Risk Pathogenic —
RS2543786983 CNOT1 Health Risk Likely pathogenic —
RS2543788281 RPGRIP1L Health Risk Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2543791313 CNTNAP1 Health Risk Pathogenic —
RS2543791417 RPGRIP1L Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2543791714 RPGRIP1L Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2543793851 CNTNAP1 Health Risk Likely pathogenic Neuropathy, congenital hypomyelinating
RS2543797507 CNTNAP1 Health Risk Likely pathogenic —
RS2543803110 STUB1 Health Risk Pathogenic Autosomal recessive spinocerebellar ataxia 16, Autosomal recessive spinocerebellar ataxia 16
RS2543803363 STUB1 Health Risk Likely pathogenic Autosomal recessive spinocerebellar ataxia 16, Autosomal recessive spinocerebellar ataxia 16
RS2543805016 STUB1 Health Risk Pathogenic —
RS2543806145 CNTNAP1 Health Risk Pathogenic —
RS2543806196 CNTNAP1 Health Risk Likely pathogenic Neuropathy, congenital hypomyelinating
RS2543809993 PGAP3 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2543810686 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Tuberous sclerosis 2
RS2543814073 CDH1 Health Risk Likely pathogenic —
RS2543814135 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS2543814251 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS2543814268 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS2543814287 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS2543816508 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS2543816586 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS2543816722 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS2543816786 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Carcinoma of parotid gland
RS2543817051 CDH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2543817109 TSC2 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis syndrome
RS2543817133 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS2543817154 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS2543817165 CDH1 Health Risk Likely pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS2543817181 CDH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2543817212 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Familial cancer of breast
RS2543817254 CDH1 Health Risk Likely pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS2543817586 EZH1 Health Risk Likely pathogenic EZH1-neurodevelopmental syndrome, EZH1-neurodevelopmental syndrome
RS2543818721 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2543818907 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2543820049 RPGRIP1L Health Risk Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2543825639 SPG7 Health Risk Pathogenic Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7
RS2543828455 TSC2 Health Risk Likely pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2543829026 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS2543831672 SETD1A Health Risk Likely pathogenic Neurodevelopmental disorder with speech impairment and dysmorphic facies, Neurodevelopmental disorder with speech impairment and dysmorphic facies
RS2543833500 SETD1A Health Risk Likely pathogenic Neurodevelopmental disorder with speech impairment and dysmorphic facies, Neurodevelopmental disorder with speech impairment and dysmorphic facies
RS2543833528 SETD1A Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2543833716 SETD1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2543841231 SPOP Health Risk Likely pathogenic Nabais Sa-de Vries syndrome, Nabais Sa-de Vries syndrome
RS2543841848 SETD1A Health Risk Likely pathogenic —
RS2543843968 EZH1 Health Risk Likely pathogenic EZH1-neurodevelopmental syndrome, EZH1-neurodevelopmental syndrome
RS2543847896 SETD1A Health Risk Pathogenic Neurodevelopmental disorder with speech impairment and dysmorphic facies, Neurodevelopmental disorder with speech impairment and dysmorphic facies
RS2543849852 SPG7 Health Risk Likely pathogenic Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7
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