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
RS1553219199 FLG2 Health Risk Pathogenic Peeling skin syndrome 6, Peeling skin syndrome 6
RS1553223152 COL11A1 Health Risk Pathogenic Stickler syndrome type 2, Stickler syndrome type 2
RS1553223323 ASPM Health Risk Likely pathogenic —
RS1553223496 ASPM Health Risk Pathogenic Microcephaly 5, primary
RS1553223544 POGZ Health Risk Pathogenic Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome, Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
RS1553223897 GNAI3 Health Risk Pathogenic/Likely pathogenic Auriculocondylar syndrome 1, Auriculocondylar syndrome 1
RS1553225179 ASPM Health Risk Pathogenic Microcephaly 5, primary
RS1553226355 GNAT2 Health Risk Likely pathogenic Abnormality of the eye, Abnormality of the eye
RS1553226581 GNAT2 Health Risk Likely pathogenic —
RS1553227015 ASPM Health Risk Likely pathogenic —
RS1553227021 ASPM Health Risk Pathogenic Microcephaly 5, primary
RS1553227204 COL11A1 Health Risk Likely pathogenic —
RS1553227645 ASPM Health Risk Pathogenic Microcephaly 5, primary
RS1553227742 ASPM Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1553227755 ATF6 Health Risk Pathogenic Achromatopsia, Achromatopsia
RS1553228009 ASPM Health Risk Pathogenic —
RS1553228275 ASPM Health Risk Pathogenic Microcephaly 5, primary
RS1553228626 DBT Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease type 1A
RS1553228653 DBT Health Risk Likely pathogenic Maple syrup urine disease type 1A, Maple syrup urine disease type 1A
RS1553229654 DBT Health Risk Pathogenic/Likely pathogenic Maple syrup urine disease, Maple syrup urine disease type 1A
RS1553229661 DBT Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease type 1A
RS1553230375 AMPD2 Health Risk Pathogenic Pontocerebellar hypoplasia type 9, Pontocerebellar hypoplasia type 9
RS1553230703 DBT Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease type 1A
RS1553230841 DBT Health Risk Pathogenic/Likely pathogenic Maple syrup urine disease, Maple syrup urine disease type 1A
RS1553231037 DBT Health Risk Likely pathogenic Maple syrup urine disease type 1A, Maple syrup urine disease type 1A
RS1553231167 CAMTA1 Health Risk Pathogenic —
RS1553231217 SPTA1 Health Risk Pathogenic Familial hemolytic anemia, Familial hemolytic anemia
RS1553231739 PEX10 Health Risk Likely pathogenic Peroxisome biogenesis disorder 6A (Zellweger), Peroxisome biogenesis disorder 6B
RS1553231783 PEX10 Health Risk Likely pathogenic Peroxisome biogenesis disorder 6A (Zellweger), Peroxisome biogenesis disorder 6B
RS1553231787 PEX10 Health Risk Pathogenic Peroxisome biogenesis disorder 6A (Zellweger), Peroxisome biogenesis disorder 6B
RS1553231820 PEX10 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 6A (Zellweger), Peroxisome biogenesis disorder 6B
RS1553231875 PEX10 Health Risk Likely pathogenic Peroxisome biogenesis disorder 6A (Zellweger), Peroxisome biogenesis disorder 6B
RS1553231888 PEX10 Health Risk Likely pathogenic Peroxisome biogenesis disorder 6A (Zellweger), Peroxisome biogenesis disorder 6B
RS1553231896 PEX10 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 6A (Zellweger), Peroxisome biogenesis disorder 6B
RS1553232007 SPTA1 Health Risk Likely pathogenic Hereditary spherocytosis type 3, Hereditary spherocytosis type 3
RS1553232077 PEX10 Health Risk Likely pathogenic Peroxisome biogenesis disorder 6A (Zellweger), Peroxisome biogenesis disorder 6B
RS1553232188 DBT Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease
RS1553232197 DBT Health Risk Likely pathogenic Maple syrup urine disease type 1A, Maple syrup urine disease type 1A
RS1553232770 UFC1 Health Risk Likely pathogenic Neurodevelopmental disorder with spasticity and poor growth, Neurodevelopmental disorder with spasticity and poor growth
RS1553232917 PEX10 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 6A (Zellweger), Peroxisome biogenesis disorder 6B
RS1553232926 PEX10 Health Risk Likely pathogenic Peroxisome biogenesis disorder 6A (Zellweger), Peroxisome biogenesis disorder 6B
RS1553233152 DBT Health Risk Likely pathogenic Maple syrup urine disease type 1A, Maple syrup urine disease type 1A
RS1553234309 SPTA1 Health Risk Pathogenic Hereditary spherocytosis type 3, Hereditary spherocytosis type 3
RS1553234339 COL11A1 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1553238271 CAMTA1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1553238311 CAMTA1 Health Risk Likely pathogenic Cerebellar dysfunction with variable cognitive and behavioral abnormalities, Cerebellar dysfunction with variable cognitive and behavioral abnormalities
RS1553238760 PHGDH Health Risk Likely pathogenic —
RS1553238837 CD247 Health Risk Pathogenic Immunodeficiency 25, Immunodeficiency 25
RS1553239242 CAMTA1 Health Risk Pathogenic —
RS1553240165 HMGCS2 Health Risk Pathogenic 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
RS1553240332 CAMTA1 Health Risk Pathogenic —
RS1553240525 HMGCS2 Health Risk Pathogenic 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
RS1553240600 NEXN Health Risk Pathogenic Hypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CC
RS1553241079 HMGCS2 Health Risk Pathogenic/Likely pathogenic 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
RS1553241570 ASH1L Health Risk Pathogenic Intellectual disability, autosomal dominant 52
RS1553241795 WARS2 Health Risk Pathogenic Neurodevelopmental disorder, mitochondrial
RS1553242554 GJA8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Cataract 1 multiple types
RS1553242577 GJA8 Health Risk Conflicting classifications of pathogenicity Cataract 1 multiple types, Cataract 1 multiple types
RS1553242856 ASH1L Health Risk Pathogenic Intellectual disability, autosomal dominant 52
RS1553243550 PTPRC Health Risk Likely pathogenic Immunodeficiency 104, Immunodeficiency 104
RS1553244022 ATP1A2 Health Risk Likely pathogenic —
RS1553244740 ATP1A2 Health Risk Conflicting classifications of pathogenicity Familial hemiplegic migraine, Familial hemiplegic migraine
RS1553244746 ATP1A2 Health Risk Pathogenic Inborn genetic diseases, Alternating hemiplegia of childhood 1
RS1553244875 ATP1A2 Health Risk Conflicting classifications of pathogenicity Familial hemiplegic migraine, Familial hemiplegic migraine
RS1553244881 ATP1A2 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Migraine
RS1553244883 ATP1A2 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy 98, Familial hemiplegic migraine
RS1553245038 ASH1L Health Risk Pathogenic Intellectual disability, autosomal dominant 52
RS1553245178 ATP1A2 Health Risk Pathogenic Inborn genetic diseases, Familial hemiplegic migraine
RS1553245183 ATP1A2 Health Risk Likely pathogenic —
RS1553245659 ATP1A2 Health Risk Pathogenic Familial hemiplegic migraine, Familial hemiplegic migraine
RS1553245771 ATP1A2 Health Risk Pathogenic Familial hemiplegic migraine, Migraine
RS1553245780 ATP1A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1553245857 ATP1A2 Health Risk Pathogenic Familial hemiplegic migraine, Migraine
RS1553245908 ATP1A2 Health Risk Likely pathogenic —
RS1553245943 ATP1A2 Health Risk Likely pathogenic Inborn genetic diseases, Familial hemiplegic migraine
RS1553247020 PBX1 Health Risk Pathogenic Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears
RS1553247028 PBX1 Health Risk Pathogenic Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears
RS1553247374 ASH1L Health Risk Pathogenic Intellectual disability, autosomal dominant 52
RS1553247592 IRF6 Health Risk Pathogenic Orofacial cleft 6, susceptibility to
RS1553247595 IRF6 Health Risk Pathogenic Van der Woude syndrome 1, Popliteal pterygium syndrome
RS1553247602 IRF6 Health Risk Pathogenic Van der Woude syndrome 1, Popliteal pterygium syndrome
RS1553247675 DPYD Health Risk Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS1553247774 IRF6 Health Risk Pathogenic/Likely pathogenic Popliteal pterygium syndrome, Van der Woude syndrome
RS1553247877 IRF6 Health Risk Likely pathogenic Van der Woude syndrome 1, Van der Woude syndrome 1
RS1553248075 PBX1 Health Risk Pathogenic Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears
RS1553248081 PBX1 Health Risk Pathogenic Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears
RS1553248110 PBX1 Health Risk Pathogenic Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears
RS1553248112 PBX1 Health Risk Likely pathogenic Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears
RS1553248216 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS1553248224 USH2A Health Risk Likely pathogenic —
RS1553248234 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS1553248238 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Retinitis pigmentosa 39
RS1553248271 IRF6 Health Risk Likely pathogenic Popliteal pterygium syndrome, Van der Woude syndrome
RS1553248515 TPM3 Health Risk Pathogenic Congenital myopathy 4B, autosomal recessive
RS1553248635 IRF6 Health Risk Pathogenic Popliteal pterygium syndrome, Van der Woude syndrome
RS1553248638 IRF6 Health Risk Pathogenic —
RS1553248640 IRF6 Health Risk Conflicting classifications of pathogenicity Orofacial cleft 6, susceptibility to
RS1553248641 IRF6 Health Risk Pathogenic/Likely pathogenic Van der Woude syndrome 1, Orofacial cleft 6
RS1553248812 USH2A Health Risk Likely pathogenic —
RS1553248832 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
« Prev 1 ... 760 761 762 763 764 765 766 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →