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
RS2115046344 CARD11 Health Risk Likely pathogenic BENTA disease, Severe combined immunodeficiency due to CARD11 deficiency
RS2115070994 CARD11 Health Risk Pathogenic BENTA disease, BENTA disease
RS2115075051 CARD11 Health Risk Pathogenic BENTA disease, Severe combined immunodeficiency due to CARD11 deficiency
RS2115075086 CARD11 Health Risk Pathogenic Severe combined immunodeficiency due to CARD11 deficiency, BENTA disease
RS2115087153 CARD11 Health Risk Likely pathogenic Severe combined immunodeficiency due to CARD11 deficiency, BENTA disease
RS2115090359 CARD11 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 11b with atopic dermatitis, Severe combined immunodeficiency due to CARD11 deficiency
RS2115090664 CARD11 Health Risk Conflicting classifications of pathogenicity BENTA disease, Severe combined immunodeficiency due to CARD11 deficiency
RS2115093887 CARD11 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 11b with atopic dermatitis, BENTA disease
RS2115094112 CARD11 Health Risk Likely pathogenic Immunodeficiency 11b with atopic dermatitis, BENTA disease
RS2115103191 AP5Z1 Health Risk Likely pathogenic Hereditary spastic paraplegia, Hereditary spastic paraplegia
RS2115114032 AP5Z1 Health Risk Likely pathogenic Hereditary spastic paraplegia 48, Hereditary spastic paraplegia 48
RS2115118331 AP5Z1 Health Risk Pathogenic Hereditary spastic paraplegia 48, Hereditary spastic paraplegia 48
RS2115122331 AP5Z1 Health Risk Pathogenic Hereditary spastic paraplegia 48, Hereditary spastic paraplegia 48
RS2115122515 PEX7 Health Risk Pathogenic Peroxisome biogenesis disorder 9B, Peroxisome biogenesis disorder 9B
RS2115122957 PEX7 Health Risk Pathogenic Peroxisome biogenesis disorder 9B, Peroxisome biogenesis disorder 9B
RS2115128968 AP5Z1 Health Risk Pathogenic Hereditary spastic paraplegia 48, Hereditary spastic paraplegia 48
RS2115129048 PEX7 Health Risk Likely pathogenic Peroxisome biogenesis disorder 9B, Peroxisome biogenesis disorder 9B
RS2115129514 AP5Z1 Health Risk Pathogenic Hereditary spastic paraplegia 48, Hereditary spastic paraplegia 48
RS2115131765 PEX7 Health Risk Likely pathogenic Abnormality of metabolism/homeostasis, Abnormality of metabolism/homeostasis
RS2115131935 PEX7 Health Risk Pathogenic Peroxisome biogenesis disorder 9B, Peroxisome biogenesis disorder 9B
RS2115167557 HACE1 Health Risk Pathogenic Spastic paraplegia-severe developmental delay-epilepsy syndrome, Spastic paraplegia-severe developmental delay-epilepsy syndrome
RS2115170460 PEX7 Health Risk Pathogenic Peroxisome biogenesis disorder 9B, Peroxisome biogenesis disorder 9B
RS2115170536 PEX7 Health Risk Pathogenic/Likely pathogenic Rhizomelic chondrodysplasia punctata type 1, Peroxisome biogenesis disorder 9B
RS2115171312 FAM20C Health Risk Pathogenic Lethal osteosclerotic bone dysplasia, Lethal osteosclerotic bone dysplasia
RS2115171634 PEX7 Health Risk Pathogenic Peroxisome biogenesis disorder 9B, Peroxisome biogenesis disorder 9B
RS2115171791 PEX7 Health Risk Pathogenic Peroxisome biogenesis disorder 9B, Peroxisome biogenesis disorder 9B
RS2115173146 FAM20C Health Risk Likely pathogenic Lethal osteosclerotic bone dysplasia, Lethal osteosclerotic bone dysplasia
RS2115181746 PLG Health Risk Likely pathogenic Plasminogen deficiency, type I
RS2115201389 RAC1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 48
RS2115201406 RAC1 Health Risk Pathogenic Intellectual disability, autosomal dominant 48
RS2115201430 RAC1 Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal dominant 48
RS2115201441 RAC1 Health Risk Pathogenic/Likely pathogenic See cases, Intellectual disability
RS2115216571 PEX7 Health Risk Likely pathogenic Intermediate form of PEX7 related rhizomelic chondrodysplasia punctata, Intermediate form of PEX7 related rhizomelic chondrodysplasia punctata
RS2115216632 PEX7 Health Risk Pathogenic Peroxisome biogenesis disorder 9B, Peroxisome biogenesis disorder 9B
RS2115218399 RAC1 Health Risk Pathogenic Intellectual disability, autosomal dominant 48
RS2115218501 RAC1 Health Risk Likely pathogenic —
RS2115273041 PEX7 Health Risk Pathogenic Peroxisome biogenesis disorder 9B, Peroxisome biogenesis disorder 9B
RS2115280647 WIPI2 Health Risk Pathogenic Intellectual developmental disorder with short stature and variable skeletal anomalies, Intellectual developmental disorder with short stature and variable skeletal anomalies
RS2115322443 CEP85L Health Risk Pathogenic Lissencephaly, Thick corpus callosum
RS2115322620 CEP85L Health Risk Likely pathogenic Lissencephaly, Lissencephaly
RS2115322699 CEP85L Health Risk Conflicting classifications of pathogenicity Lissencephaly 10, Lissencephaly 10
RS2115340270 MICAL1 Health Risk Pathogenic Epilepsy, familial temporal lobe
RS2115351044 RSPH4A Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2115351492 RSPH4A Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2115362230 RSPH4A Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2115362674 RSPH4A Health Risk Pathogenic Primary ciliary dyskinesia 11, Primary ciliary dyskinesia 11
RS2115364513 AHR Health Risk Likely pathogenic —
RS2115370127 AHR Health Risk Pathogenic —
RS2115386562 CEP85L;LOC129997071 Health Risk Pathogenic Lissencephaly, Lissencephaly
RS2115396414 TWIST1 Health Risk Pathogenic TWIST1-related craniosynostosis, Saethre-Chotzen syndrome
RS2115396572 TWIST1 Health Risk Likely pathogenic Saethre-Chotzen syndrome, TWIST1-related craniosynostosis
RS2115396574 TWIST1 Health Risk Likely pathogenic Saethre-Chotzen syndrome, TWIST1-related craniosynostosis
RS2115396578 TWIST1 Health Risk Pathogenic Saethre-Chotzen syndrome, TWIST1-related craniosynostosis
RS2115396610 TWIST1 Health Risk Pathogenic Saethre-Chotzen syndrome, Saethre-Chotzen syndrome
RS2115396618 TWIST1 Health Risk Likely pathogenic —
RS2115396651 TWIST1 Health Risk Likely pathogenic TWIST1-related craniosynostosis, Saethre-Chotzen syndrome
RS2115396671 TWIST1 Health Risk Pathogenic Saethre-Chotzen syndrome, TWIST1-related craniosynostosis
RS2115396737 TWIST1 Health Risk Likely pathogenic Saethre-Chotzen syndrome, Saethre-Chotzen syndrome
RS2115396763 TWIST1 Health Risk Pathogenic Saethre-Chotzen syndrome, TWIST1-related craniosynostosis
RS2115396782 TWIST1 Health Risk Pathogenic Saethre-Chotzen syndrome, TWIST1-related craniosynostosis
RS2115396985 TWIST1 Health Risk Pathogenic Saethre-Chotzen syndrome, TWIST1-related craniosynostosis
RS2115397200 TWIST1 Health Risk Pathogenic —
RS2115397248 TWIST1 Health Risk Pathogenic TWIST1-related craniosynostosis, Saethre-Chotzen syndrome
RS2115426221 PRKN Health Risk Pathogenic Autosomal recessive juvenile Parkinson disease 2, Autosomal recessive juvenile Parkinson disease 2
RS2115573262 PCLO Health Risk Pathogenic —
RS2115578318 PCLO Health Risk Pathogenic —
RS2115582108 PCLO Health Risk Pathogenic —
RS2115582732 ASNS Health Risk Pathogenic —
RS2115587401 YWHAG Health Risk Likely pathogenic —
RS2115589045 YWHAG Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 56
RS2115589147 YWHAG Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 56
RS2115589275 YWHAG Health Risk Pathogenic Bilateral tonic-clonic seizure, Specific learning disability
RS2115589280 YWHAG Health Risk Pathogenic —
RS2115590426 ASNS Health Risk Pathogenic —
RS2115591817 ASNS Health Risk Pathogenic —
RS2115592556 ASNS Health Risk Likely pathogenic Abnormal cerebral morphology, Abnormal cerebral morphology
RS2115593984 ASNS Health Risk Pathogenic —
RS2115608786 ASNS Health Risk Likely pathogenic —
RS2115608872 ASNS Health Risk Conflicting classifications of pathogenicity Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome, Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
RS2115616730 ASNS Health Risk Pathogenic/Likely pathogenic Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome, Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
RS2115631937 GNAI1 Health Risk Likely pathogenic Neurodevelopmental disorder with hypotonia, impaired speech
RS2115649654 ASNS Health Risk Likely pathogenic —
RS2115649690 ASNS Health Risk Pathogenic Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome, Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
RS2115654584 ASNS Health Risk Pathogenic/Likely pathogenic Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome, Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
RS2115654665 SEMA3E Health Risk Likely pathogenic CHARGE syndrome, CHARGE syndrome
RS2115655031 ASNS Health Risk Pathogenic —
RS2115655242 ASNS Health Risk Pathogenic —
RS2115655369 ASNS Health Risk Pathogenic —
RS2115657314 PCLO Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2115660227 ASNS Health Risk Pathogenic —
RS2115660310 ASNS Health Risk Pathogenic —
RS2115661145 ASNS Health Risk Pathogenic —
RS2115667069 YWHAG Health Risk Pathogenic —
RS2115683966 GNAI1 Health Risk Pathogenic/Likely pathogenic Neurodevelopmental disorder with hypotonia, impaired speech
RS2115694416 ASL Health Risk Pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS2115698756 ASL Health Risk Pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS2115700686 ASL Health Risk Likely pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS2115710819 ASNS Health Risk Likely pathogenic —
RS2115712676 GNAI1 Health Risk Pathogenic Neurodevelopmental disorder with hypotonia, impaired speech
RS2115712706 GNAI1 Health Risk Pathogenic/Likely pathogenic Neurodevelopmental disorder with hypotonia, impaired speech
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