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
RS2129317387 RP1 Health Risk Pathogenic —
RS2129317503 RP1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 1, Retinitis pigmentosa 1
RS2129317522 SLC26A4 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4
RS2129317533 SLC26A4 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4
RS2129317773 RP1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 1, Retinitis pigmentosa 1
RS2129317899 SLC26A4 Health Risk Pathogenic —
RS2129317902 SLC26A4 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4
RS2129317908 SLC26A4 Health Risk Pathogenic —
RS2129317933 RP1 Health Risk Pathogenic —
RS2129317972 RP1 Health Risk Pathogenic —
RS2129318096 SLC26A4 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome
RS2129318119 SLC26A4 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4
RS2129318234 SLC26A4 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4
RS2129318266 RP1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 1, Retinitis pigmentosa 1
RS2129318278 SLC26A4 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome
RS2129318281 SLC26A4 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4
RS2129318299 SLC26A4 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4
RS2129318300 SLC26A4 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4
RS2129318360 RP1 Health Risk Pathogenic/Likely pathogenic —
RS2129318565 RP1 Health Risk Pathogenic —
RS2129318575 RP1 Health Risk Pathogenic —
RS2129318784 SLC26A4 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4
RS2129318790 SLC26A4 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4
RS2129319905 SLC26A4 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4
RS2129319916 SLC26A4 Health Risk Pathogenic —
RS2129319928 SLC26A4 Health Risk Pathogenic —
RS2129319932 SLC26A4 Health Risk Pathogenic —
RS2129327420 FOXP2 Health Risk Pathogenic —
RS2129327570 FOXP2 Health Risk Pathogenic Childhood apraxia of speech, Inborn genetic diseases
RS2129332878 FOXP2 Health Risk Pathogenic —
RS2129337870 FOXP2 Health Risk Pathogenic See cases, See cases
RS2129338694 FOXP2 Health Risk Pathogenic —
RS2129341954 FOXP2 Health Risk Pathogenic Childhood apraxia of speech, Childhood apraxia of speech
RS2129433185 ADAM9 Health Risk Pathogenic —
RS2129433190 ADAM9 Health Risk Likely pathogenic Cone-rod dystrophy 9, Cone-rod dystrophy 9
RS2129438784 ADAM9 Health Risk Pathogenic —
RS2129438824 ADAM9 Health Risk Pathogenic Cone-rod dystrophy 9, Cone-rod dystrophy 9
RS2129465354 EZH2 Health Risk Pathogenic Weaver syndrome, Weaver syndrome
RS2129467486 EZH2 Health Risk Pathogenic Weaver syndrome, Weaver syndrome
RS2129467664 EZH2 Health Risk Pathogenic/Likely pathogenic Weaver syndrome, Weaver syndrome
RS2129468233 EZH2 Health Risk Conflicting classifications of pathogenicity Weaver syndrome, Weaver syndrome
RS2129468825 PCLO Health Risk Pathogenic —
RS2129469054 EZH2 Health Risk Likely pathogenic Weaver syndrome, Weaver syndrome
RS2129476891 EZH2 Health Risk Likely pathogenic Weaver syndrome, Weaver syndrome
RS2129476917 EZH2 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2129477011 EZH2 Health Risk Conflicting classifications of pathogenicity Weaver syndrome, Weaver syndrome
RS2129540473 AUTS2 Health Risk Likely pathogenic Autism spectrum disorder due to AUTS2 deficiency, Autism spectrum disorder due to AUTS2 deficiency
RS2129540475 AUTS2 Health Risk Pathogenic Autism spectrum disorder due to AUTS2 deficiency, Autism spectrum disorder due to AUTS2 deficiency
RS2129543529 CSPP1 Health Risk Pathogenic Joubert syndrome 21, Joubert syndrome 21
RS2129547115 CSPP1 Health Risk Likely pathogenic Joubert syndrome 21, Joubert syndrome 21
RS2129550760 MCPH1 Health Risk Likely pathogenic —
RS2129554176 CSPP1 Health Risk Pathogenic Joubert syndrome 21, Joubert syndrome 21
RS2129556993 AUTS2 Health Risk Pathogenic/Likely pathogenic Autism spectrum disorder due to AUTS2 deficiency, Autism spectrum disorder due to AUTS2 deficiency
RS2129557492 AUTS2 Health Risk Pathogenic —
RS2129557496 AUTS2 Health Risk Pathogenic —
RS2129558874 AUTS2 Health Risk Pathogenic —
RS2129558877 AUTS2 Health Risk Pathogenic Autism spectrum disorder due to AUTS2 deficiency, Autism spectrum disorder due to AUTS2 deficiency
RS2129559034 CSPP1 Health Risk Likely pathogenic Joubert syndrome 21, Joubert syndrome 21
RS2129559063 CSPP1 Health Risk Pathogenic Joubert syndrome 21, Joubert syndrome 21
RS2129559195 AUTS2 Health Risk Pathogenic Autism spectrum disorder due to AUTS2 deficiency, Autism spectrum disorder due to AUTS2 deficiency
RS2129559817 MCPH1 Health Risk Likely pathogenic Microcephaly 1, primary
RS2129560295 CSPP1 Health Risk Pathogenic Joubert syndrome 21, Joubert syndrome 21
RS2129561031 AUTS2 Health Risk Pathogenic —
RS2129561583 AUTS2 Health Risk Conflicting classifications of pathogenicity —
RS2129561598 AUTS2 Health Risk Likely pathogenic —
RS2129561783 CSPP1 Health Risk Likely pathogenic Joubert syndrome 21, Joubert syndrome 21
RS2129565360 KMT2E Health Risk Likely pathogenic O'Donnell-Luria-Rodan syndrome, O'Donnell-Luria-Rodan syndrome
RS2129565840 ANGPT2 Health Risk Pathogenic Lymphatic malformation 10, Lymphatic malformation 10
RS2129567141 KMT2E Health Risk Likely pathogenic O'Donnell-Luria-Rodan syndrome, O'Donnell-Luria-Rodan syndrome
RS2129567228 KMT2E Health Risk Likely pathogenic O'Donnell-Luria-Rodan syndrome, O'Donnell-Luria-Rodan syndrome
RS2129567233 KMT2E Health Risk Pathogenic O'Donnell-Luria-Rodan syndrome, O'Donnell-Luria-Rodan syndrome
RS2129567910 KMT2E Health Risk Pathogenic —
RS2129567978 KMT2E Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2129568047 KMT2E Health Risk Likely pathogenic O'Donnell-Luria-Rodan syndrome, O'Donnell-Luria-Rodan syndrome
RS2129568394 KMT2E Health Risk Likely pathogenic Neurodevelopmental delay, Neurodevelopmental delay
RS2129568919 KMT2E Health Risk Pathogenic O'Donnell-Luria-Rodan syndrome, O'Donnell-Luria-Rodan syndrome
RS2129568923 KMT2E Health Risk Likely pathogenic See cases, See cases
RS2129569484 KMT2E Health Risk Likely pathogenic O'Donnell-Luria-Rodan syndrome, O'Donnell-Luria-Rodan syndrome
RS2129569824 KMT2E Health Risk Pathogenic —
RS2129569834 KMT2E Health Risk Pathogenic O'Donnell-Luria-Rodan syndrome, O'Donnell-Luria-Rodan syndrome
RS2129569867 KMT2E Health Risk Likely pathogenic O'Donnell-Luria-Rodan syndrome, O'Donnell-Luria-Rodan syndrome
RS2129569889 KMT2E Health Risk Pathogenic O'Donnell-Luria-Rodan syndrome, O'Donnell-Luria-Rodan syndrome
RS2129569913 KMT2E Health Risk Pathogenic —
RS2129569915 KMT2E Health Risk Pathogenic Neurodevelopmental delay, Neurodevelopmental delay
RS2129570095 KMT2E Health Risk Conflicting classifications of pathogenicity O'Donnell-Luria-Rodan syndrome, O'Donnell-Luria-Rodan syndrome
RS2129570178 KMT2E Health Risk Likely pathogenic O'Donnell-Luria-Rodan syndrome, O'Donnell-Luria-Rodan syndrome
RS2129570184 KMT2E Health Risk Likely pathogenic Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
RS2129575958 CSPP1 Health Risk Pathogenic Joubert syndrome 21, Joubert syndrome 21
RS2129577314 ARFGEF1 Health Risk Likely pathogenic Delayed ability to walk, Delayed ability to walk
RS2129577321 ARFGEF1 Health Risk Likely pathogenic Neurodevelopmental delay, Neurodevelopmental delay
RS2129578084 ARFGEF1 Health Risk Likely pathogenic Neurodevelopmental delay, Neurodevelopmental delay
RS2129580766 MCPH1 Health Risk Likely pathogenic Autosomal recessive primary microcephaly, Autosomal recessive primary microcephaly
RS2129619306 ASPH Health Risk Pathogenic —
RS2129625655 ASPH Health Risk Likely pathogenic —
RS2129629751 CYP7B1 Health Risk Pathogenic Hereditary spastic paraplegia 5A, Hereditary spastic paraplegia 5A
RS2129629754 CYP7B1 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2129629942 CYP7B1 Health Risk Pathogenic/Likely pathogenic Spastic paraplegia, Spastic paraplegia
RS2129629943 CYP7B1 Health Risk Pathogenic —
RS2129629945 CYP7B1 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2129630194 CYP7B1 Health Risk Pathogenic Spastic ataxia, Spastic ataxia
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