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
RS2141138370 GJA3 Health Risk Likely pathogenic Cataract 14 multiple types, Cataract 14 multiple types
RS2141138391 GJA3 Health Risk Likely pathogenic Cataract 14 multiple types, Cataract 14 multiple types
RS2141138396 GJA3 Health Risk Likely pathogenic Cataract 14 multiple types, Cataract 14 multiple types
RS2141138493 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2141138753 CLN6 Health Risk Likely pathogenic Ceroid lipofuscinosis, neuronal
RS2141138964 DUOX2 Health Risk Pathogenic —
RS2141139300 CLN6 Health Risk Pathogenic Abnormality of the nervous system, Ceroid lipofuscinosis
RS2141140456 DUOX2 Health Risk Likely pathogenic —
RS2141141420 CLN6 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2141141525 CLN6 Health Risk Likely pathogenic Abnormality of the nervous system, Abnormality of the nervous system
RS2141141533 CLN6 Health Risk Pathogenic Ceroid lipofuscinosis, neuronal
RS2141143799 DUOX2 Health Risk Pathogenic —
RS2141143881 DUOX2 Health Risk Likely pathogenic Congenital hypothyroidism, Congenital hypothyroidism
RS2141144285 DUOX2 Health Risk Likely pathogenic Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
RS2141144931 IFT140 Health Risk Pathogenic Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS2141145023 CLN6 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2141145071 CLN6 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2141145074 CLN6 Health Risk Pathogenic —
RS2141145116 CLN6 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2141145188 IFT140 Health Risk Pathogenic Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS2141145828 DUOX2 Health Risk Pathogenic Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
RS2141146617 DUOX2 Health Risk Pathogenic —
RS2141147087 IFT140 Health Risk Pathogenic Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS2141147450 AP4E1 Health Risk Pathogenic/Likely pathogenic Spastic paraplegia, Hereditary spastic paraplegia 51
RS2141147698 PACS2 Health Risk Likely pathogenic —
RS2141148172 IFT140 Health Risk Pathogenic Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS2141150691 GRIN2A Health Risk Likely pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS2141150812 GRIN2A Health Risk Likely pathogenic —
RS2141151209 GRIN2A Health Risk Likely pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS2141151636 DUOX2 Health Risk Pathogenic —
RS2141153735 DUOX2 Health Risk Pathogenic —
RS2141153740 DUOX2 Health Risk Likely pathogenic Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
RS2141155132 IGF1R Health Risk Pathogenic —
RS2141155238 IGF1R Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2141156157 CLN6 Health Risk Likely pathogenic Abnormality of the nervous system, Abnormality of the nervous system
RS2141156206 USP7 Health Risk Likely pathogenic —
RS2141160202 DUOX2 Health Risk Pathogenic —
RS2141160425 CAPN3 Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS2141160443 CAPN3 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS2141160513 CAPN3 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS2141160577 CAPN3 Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy
RS2141160881 CAPN3 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS2141161066 PRIMA1 Health Risk Pathogenic Familial sleep-related hypermotor epilepsy, Familial sleep-related hypermotor epilepsy
RS2141163058 RALGAPA1 Health Risk Likely pathogenic Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency
RS2141163549 RALGAPA1 Health Risk Pathogenic Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency
RS2141164712 AP4E1 Health Risk Likely pathogenic Spastic paraplegia, Spastic paraplegia
RS2141164715 CAPN3 Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy
RS2141164830 CAPN3 Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS2141164878 AP4E1 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 51, Spastic paraplegia
RS2141167019 USP7 Health Risk Pathogenic/Likely pathogenic Hypotonia, Hao-Fountain syndrome
RS2141167797 CAPN3 Health Risk Likely pathogenic Abnormality of the musculature, Abnormality of the musculature
RS2141167851 CAPN3 Health Risk Pathogenic —
RS2141168796 LRRK1 Health Risk Pathogenic Osteosclerotic metaphyseal dysplasia, Osteosclerotic metaphyseal dysplasia
RS2141169116 NR2F2 Health Risk Pathogenic Congenital heart defects, multiple types
RS2141169336 NR2F2 Health Risk Likely pathogenic 46, XY disorder of sex development
RS2141170197 CAPN3 Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS2141170209 MIR184 Health Risk Pathogenic EDICT syndrome, EDICT syndrome
RS2141170517 CAPN3 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS2141171226 IFT140 Health Risk Likely pathogenic Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS2141172134 IFT140 Health Risk Pathogenic Retinal dystrophy, Saldino-Mainzer syndrome
RS2141172226 IFT140 Health Risk Likely pathogenic Saldino-Mainzer syndrome, Retinitis pigmentosa 80
RS2141176797 CAPN3 Health Risk Pathogenic Muscular dystrophy, limb-girdle
RS2141176978 CAPN3 Health Risk Likely pathogenic Abnormality of the musculature, Abnormality of the musculature
RS2141176996 CAPN3 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS2141177054 CAPN3 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS2141179932 IFT140 Health Risk Pathogenic/Likely pathogenic Saldino-Mainzer syndrome, Retinitis pigmentosa 80
RS2141180025 IFT140 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2141181339 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome
RS2141181367 GNB5 Health Risk Pathogenic Gnb5-related intellectual disability-cardiac arrhythmia syndrome, Gnb5-related intellectual disability-cardiac arrhythmia syndrome
RS2141185231 IFT140 Health Risk Pathogenic/Likely pathogenic Saldino-Mainzer syndrome, Retinitis pigmentosa 80
RS2141185978 USP7 Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS2141186036 USP7 Health Risk Likely pathogenic Hao-Fountain syndrome, Hao-Fountain syndrome
RS2141190525 USP7 Health Risk Likely pathogenic Hao-Fountain syndrome, Hao-Fountain syndrome
RS2141193077 KIAA0586 Health Risk Pathogenic Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23
RS2141193533 CAPN3 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy
RS2141193854 GNB5 Health Risk Pathogenic/Likely pathogenic Abnormality of the nervous system, Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia
RS2141194090 CAPN3 Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy
RS2141194911 MPI Health Risk Likely pathogenic MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
RS2141194926 MPI Health Risk Likely pathogenic MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
RS2141197839 MPI Health Risk Pathogenic MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
RS2141198335 CREBBP Health Risk Likely pathogenic —
RS2141199028 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome
RS2141199370 CAPN3 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS2141199590 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome
RS2141199638 CAPN3 Health Risk Likely pathogenic Abnormality of the musculature, Abnormality of the musculature
RS2141199686 CAPN3 Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS2141199752 CAPN3 Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy
RS2141199913 CAPN3 Health Risk Pathogenic —
RS2141199970 CAPN3 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS2141200280 MPI Health Risk Likely pathogenic MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
RS2141200474 USP7 Health Risk Likely pathogenic Hao-Fountain syndrome, Hao-Fountain syndrome
RS2141200617 MPI Health Risk Pathogenic MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
RS2141202384 CREBBP Health Risk Pathogenic —
RS2141202895 KIAA0586 Health Risk Pathogenic Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly
RS2141202919 CAPN3 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS2141202964 USP7 Health Risk Likely pathogenic Hao-Fountain syndrome, Hao-Fountain syndrome
RS2141203052 CAPN3 Health Risk Likely pathogenic Abnormality of the musculature, Abnormality of the musculature
RS2141203402 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome
RS2141203435 CAPN3 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS2141204933 CREBBP Health Risk Likely pathogenic —
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