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
RS2513940332 SHANK1 Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS2513940954 SHANK1 Health Risk Pathogenic —
RS2513944405 UBA2 Health Risk Pathogenic ACCES syndrome, ACCES syndrome
RS2513949085 PPFIA3 Health Risk Pathogenic PAUL-CHAO NEURODEVELOPMENTAL SYNDROME, PAUL-CHAO NEURODEVELOPMENTAL SYNDROME
RS2513949103 PPFIA3 Health Risk Likely pathogenic PPFIA3-related disorder, PPFIA3-related disorder
RS2513951852 CIC Health Risk Likely pathogenic Intellectual disability, autosomal dominant 45
RS2513955324 PPFIA3 Health Risk Pathogenic PPFIA3-associated neurodevelopmental disorder, PPFIA3-associated neurodevelopmental disorder
RS2513956373 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS2513956628 CIC Health Risk Likely pathogenic Autism spectrum disorder, Autism spectrum disorder
RS2513957174 RYR1 Health Risk Likely pathogenic RYR1-related disorder, RYR1-related disorder
RS2513965262 RYR1 Health Risk Likely pathogenic RYR1-related disorder, RYR1-related disorder
RS2513965312 UBA2 Health Risk Pathogenic ACCES syndrome, ACCES syndrome
RS2513965447 PPFIA3 Health Risk Pathogenic PPFIA3-related disorder, PAUL-CHAO NEURODEVELOPMENTAL SYNDROME
RS2513965560 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS2513965654 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS2513965734 UBA2 Health Risk Likely pathogenic UBA2-related disorder, UBA2-related disorder
RS2513969861 SMARCA4 Health Risk Pathogenic Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2
RS2513971056 PPFIA3 Health Risk Likely pathogenic —
RS2513971656 RYR1 Health Risk Likely pathogenic RYR1-related myopathy, RYR1-related myopathy
RS2513972757 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS2513973253 CIC Health Risk Likely pathogenic Intellectual disability, autosomal dominant 45
RS2513975356 TYROBP Health Risk Pathogenic —
RS2513977037 POLD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS2513977781 POLD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS2513978101 LIG1 Health Risk Likely pathogenic Immunodeficiency 96, Immunodeficiency 96
RS2513981504 PIGN Health Risk Likely pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS2513983289 PIGN Health Risk Pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS2513984206 FKRP Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy
RS2513984618 FKRP Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
RS2513984671 PIGN Health Risk Pathogenic/Likely pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS2513984718 FKRP Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
RS2513984747 FKRP Health Risk Pathogenic Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy
RS2513984831 FKRP Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
RS2513985802 FKRP Health Risk Pathogenic Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy
RS2513986047 PPFIA3 Health Risk Likely pathogenic —
RS2513986224 FKRP Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
RS2513986270 PPFIA3 Health Risk Pathogenic PPFIA3-related disorder, PPFIA3-related disorder
RS2513986316 PPFIA3 Health Risk Pathogenic/Likely pathogenic Neurodevelopmental delay, PAUL-CHAO NEURODEVELOPMENTAL SYNDROME
RS2513986651 FKRP Health Risk Pathogenic Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy
RS2513986660 FKRP Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
RS2513987029 RYR1 Health Risk Likely pathogenic Centronuclear myopathy, Centronuclear myopathy
RS2513987082 FKRP Health Risk Pathogenic Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy
RS2513987580 FKRP Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
RS2513987722 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS2513988028 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS2513988220 FKRP Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
RS2513988291 UBA2 Health Risk Conflicting classifications of pathogenicity ACCES syndrome, ACCES syndrome
RS2513988364 FKRP Health Risk Pathogenic Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS2513989133 FKRP Health Risk Pathogenic Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy
RS2513989220 FKRP Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
RS2513989754 FKRP Health Risk Likely pathogenic Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy
RS2513990210 FKRP Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
RS2513990753 FKRP Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
RS2513991038 FKRP Health Risk Pathogenic Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS2513991192 FKRP Health Risk Pathogenic/Likely pathogenic Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS2513991243 FKRP Health Risk Pathogenic Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy
RS2513991769 FKRP Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
RS2513992225 FKRP Health Risk Pathogenic/Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
RS2513992369 FKRP Health Risk Pathogenic Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy
RS2513992552 FKRP Health Risk Pathogenic Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy
RS2513992872 FKRP Health Risk Pathogenic Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy
RS2513992968 FKRP Health Risk Pathogenic Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy
RS2513993243 FKRP Health Risk Pathogenic Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy
RS2513993372 FKRP Health Risk Likely pathogenic Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy
RS2513993849 FKRP Health Risk Pathogenic Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy
RS2513994179 POLD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS2513994340 FKRP Health Risk Likely pathogenic Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy
RS2513994525 FKRP Health Risk Pathogenic/Likely pathogenic Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS2513994806 ERCC2 Health Risk Pathogenic Trichothiodystrophy 1, photosensitive
RS2513994983 RYR1 Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS2513995099 SMARCA4 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2513996082 FKRP Health Risk Likely pathogenic Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy
RS2513996251 FKRP Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
RS2513996716 FKRP Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
RS2513996807 FKRP Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
RS2513996914 FKRP Health Risk Pathogenic Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy
RS2513997081 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS2513997414 FKRP Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
RS2513997582 ERCC2 Health Risk Pathogenic/Likely pathogenic Cerebrooculofacioskeletal syndrome 2, Cerebrooculofacioskeletal syndrome 2
RS2513997612 ERCC2 Health Risk Likely pathogenic Cerebrooculofacioskeletal syndrome 2, Cerebrooculofacioskeletal syndrome 2
RS2513998080 ERCC2 Health Risk Pathogenic/Likely pathogenic Cerebrooculofacioskeletal syndrome 2, Cerebrooculofacioskeletal syndrome 2
RS2513998244 ERCC2 Health Risk Likely pathogenic Cerebrooculofacioskeletal syndrome 2, Cerebrooculofacioskeletal syndrome 2
RS2513998618 PPFIA3 Health Risk Likely pathogenic Neurodevelopmental delay, Neurodevelopmental delay
RS2513998901 FKRP Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy
RS2513999039 ERCC2 Health Risk Pathogenic —
RS2513999160 ERCC2 Health Risk Pathogenic/Likely pathogenic Cerebrooculofacioskeletal syndrome 2, Cerebrooculofacioskeletal syndrome 2
RS2513999168 ERCC2 Health Risk Likely pathogenic Xeroderma pigmentosum, group D
RS2513999220 FKRP Health Risk Pathogenic/Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
RS2513999250 ERCC2 Health Risk Likely pathogenic Cerebrooculofacioskeletal syndrome 2, Cerebrooculofacioskeletal syndrome 2
RS2513999258 FKRP Health Risk Pathogenic Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy
RS2513999462 ERCC2 Health Risk Likely pathogenic Cerebrooculofacioskeletal syndrome 2, Cerebrooculofacioskeletal syndrome 2
RS2513999476 ERCC2 Health Risk Likely pathogenic Cerebrooculofacioskeletal syndrome 2, Cerebrooculofacioskeletal syndrome 2
RS2513999537 SMARCA4 Health Risk Pathogenic Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS2513999544 ERCC2 Health Risk Pathogenic —
RS2513999711 FKRP Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Walker-Warburg congenital muscular dystrophy
RS2513999779 FKRP Health Risk Likely pathogenic Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy
RS2514000020 ERCC2 Health Risk Likely pathogenic Cerebrooculofacioskeletal syndrome 2, Cerebrooculofacioskeletal syndrome 2
RS2514000214 ERCC2 Health Risk Pathogenic/Likely pathogenic Cerebrooculofacioskeletal syndrome 2, Cerebrooculofacioskeletal syndrome 2
RS2514000241 FKRP Health Risk Pathogenic Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy
RS2514000268 ERCC2 Health Risk Pathogenic/Likely pathogenic Cerebrooculofacioskeletal syndrome 2, Xeroderma pigmentosum
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