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
RS1568404443 JAK3 Health Risk Pathogenic T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency
RS1568404922 LTBP4 Health Risk Likely pathogenic Cutis laxa, Cutis laxa
RS1568406407 LTBP4 Health Risk Pathogenic Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
RS1568408269 PNPLA6 Health Risk Pathogenic Hereditary spastic paraplegia 39, Hereditary spastic paraplegia 39
RS1568408280 MAST1 Health Risk Conflicting classifications of pathogenicity Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, Inborn genetic diseases
RS1568409494 MAST1 Health Risk Likely pathogenic Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
RS1568409502 MAST1 Health Risk Pathogenic Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
RS1568409626 TUBB4A Health Risk Likely pathogenic Hypomyelinating leukodystrophy 6, Hypomyelinating leukodystrophy 6
RS1568409639 TUBB4A Health Risk Conflicting classifications of pathogenicity Hypomyelinating leukodystrophy 6, Hypomyelinating leukodystrophy 6
RS1568413207 MAST1 Health Risk Pathogenic Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, MAST1-related disorder
RS1568413644 OPA3 Health Risk Pathogenic/Likely pathogenic 3-Methylglutaconic aciduria type 3, Optic atrophy 3
RS1568415448 PNPLA6 Health Risk Likely pathogenic Hereditary spastic paraplegia 39, Hereditary spastic paraplegia 39
RS1568418845 FKRP Health Risk Pathogenic —
RS1568419433 CEBPA Health Risk Conflicting classifications of pathogenicity Acute myeloid leukemia, Inborn genetic diseases
RS1568419654 CEBPA Health Risk Conflicting classifications of pathogenicity Acute myeloid leukemia, Inborn genetic diseases
RS1568419664 CEBPA Health Risk Conflicting classifications of pathogenicity Acute myeloid leukemia, Inborn genetic diseases
RS1568419675 SMARCA4 Health Risk Pathogenic/Likely pathogenic Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2
RS1568419701 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS1568419736 CEBPA Health Risk Conflicting classifications of pathogenicity Acute myeloid leukemia, Inborn genetic diseases
RS1568419860 FKRP Health Risk Pathogenic Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy
RS1568420774 FKRP Health Risk Conflicting classifications of pathogenicity —
RS1568420836 KLF1 Health Risk Pathogenic BLOOD GROUP--LUTHERAN INHIBITOR, BLOOD GROUP--LUTHERAN INHIBITOR
RS1568420988 KLF1 Health Risk Pathogenic —
RS1568421853 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS1568422286 SMARCA4 Health Risk Pathogenic Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS1568422504 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS1568423251 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS1568423542 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS1568423738 SLC5A5 Health Risk Pathogenic/Likely pathogenic Thyroid dyshormonogenesis 1, Thyroid dyshormonogenesis 1
RS1568423807 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS1568423844 PNPLA6 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 39, Hereditary spastic paraplegia 39
RS1568424857 GCDH Health Risk Conflicting classifications of pathogenicity Glutaric aciduria, type 1
RS1568425218 RPL18 Health Risk Pathogenic Diamond-Blackfan anemia 18, Diamond-Blackfan anemia 18
RS1568425945 GCDH Health Risk Conflicting classifications of pathogenicity Glutaric aciduria, type 1
RS1568426700 INSR Health Risk Likely pathogenic Insulin resistance, Insulin resistance
RS1568427296 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS1568427678 GCDH Health Risk Likely pathogenic Glutaric aciduria, type 1
RS1568428779 GCDH Health Risk Pathogenic Glutaric aciduria, type 1
RS1568429137 GCDH Health Risk Likely pathogenic Glutaric aciduria, type 1
RS1568429257 GCDH Health Risk Likely pathogenic Glutaric aciduria, type 1
RS1568429421 GCDH Health Risk Likely pathogenic Glutaric aciduria, type 1
RS1568430264 PRR12 Health Risk Conflicting classifications of pathogenicity —
RS1568430280 SMARCA4 Health Risk Likely pathogenic Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2
RS1568431102 CD70 Health Risk Pathogenic Severe combined immunodeficiency due to CD70 deficiency, Severe combined immunodeficiency due to CD70 deficiency
RS1568431262 CD70 Health Risk Pathogenic Severe combined immunodeficiency due to CD70 deficiency, Severe combined immunodeficiency due to CD70 deficiency
RS1568440440 CACNA1A Health Risk Pathogenic/Likely pathogenic Cerebellar ataxia, Episodic ataxia type 2
RS1568440962 RYR1 Health Risk Pathogenic/Likely pathogenic RYR1-related disorder, Central core myopathy
RS1568441076 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS1568443280 CACNA1A Health Risk Likely pathogenic Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS1568443969 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS1568445341 PEPD Health Risk Conflicting classifications of pathogenicity —
RS1568445415 RYR1 Health Risk Likely pathogenic RYR1-related disorder, RYR1-related disorder
RS1568445893 ARSG Health Risk Pathogenic Usher syndrome, type 4
RS1568446845 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS1568447557 CACNA1A Health Risk Likely pathogenic Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS1568447650 CACNA1A Health Risk Pathogenic/Likely pathogenic Spastic ataxia, Developmental and epileptic encephalopathy
RS1568450514 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS1568451320 RYR1 Health Risk Likely pathogenic —
RS1568452917 RYR1 Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS1568453378 NPHS1 Health Risk Pathogenic/Likely pathogenic Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS1568454093 NPHS1 Health Risk Pathogenic/Likely pathogenic Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS1568454672 RYR1 Health Risk Pathogenic/Likely pathogenic Arthrogryposis multiplex congenita, Fetal akinesia deformation sequence 1
RS1568455217 SMARCA4 Health Risk Pathogenic Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2
RS1568456200 SMARCA4 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 16
RS1568456335 NPHS1 Health Risk Pathogenic —
RS1568457080 CACNA1A Health Risk Pathogenic Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS1568462513 SMARCA4 Health Risk Likely pathogenic Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2
RS1568463402 STXBP2 Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
RS1568466685 ETFB Health Risk Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS1568469505 RYR1 Health Risk Likely pathogenic —
RS1568469857 CACNA1C Health Risk Pathogenic Long QT syndrome 8, Long QT syndrome 8
RS1568469902 BLOC1S3 Health Risk Pathogenic Hermansky-Pudlak syndrome 8, Hermansky-Pudlak syndrome 8
RS1568470104 CACNA1A Health Risk Pathogenic/Likely pathogenic Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS1568471940 TCF4 Health Risk Pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS1568471977 CACNA1A Health Risk Conflicting classifications of pathogenicity CACNA1A-related disorder, Seizure
RS1568472223 ERF Health Risk Likely pathogenic —
RS1568472771 ERF Health Risk Pathogenic TWIST1-related craniosynostosis, TWIST1-related craniosynostosis
RS1568473171 CACNA1A Health Risk Pathogenic Episodic ataxia type 2, Inborn genetic diseases
RS1568473233 CACNA1A Health Risk Pathogenic Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS1568473283 CACNA1A Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 6, Spinocerebellar ataxia type 6
RS1568475667 ERF Health Risk Pathogenic TWIST1-related craniosynostosis, TWIST1-related craniosynostosis
RS1568476007 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS1568476203 RYR1 Health Risk Pathogenic Congenital multicore myopathy with external ophthalmoplegia, Congenital multicore myopathy with external ophthalmoplegia
RS1568480054 LIM2 Health Risk Pathogenic/Likely pathogenic Cataract, Cataract 19 multiple types
RS1568480914 RYR1 Health Risk Likely pathogenic —
RS1568481204 COLGALT1 Health Risk Pathogenic Brain small vessel disease 3, Brain small vessel disease 3
RS1568481244 COLGALT1 Health Risk Pathogenic Brain small vessel disease 3, Brain small vessel disease 3
RS1568481364 RYR1 Health Risk Likely pathogenic —
RS1568482840 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS1568483365 AURKC Health Risk Likely pathogenic —
RS1568483598 NLRP5 Health Risk Pathogenic —
RS1568484575 B9D2 Health Risk Likely pathogenic Meckel syndrome, type 10
RS1568484835 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS1568485068 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS1568485109 CACNA1A Health Risk Pathogenic —
RS1568487734 CIC Health Risk Pathogenic Intellectual disability, autosomal dominant 45
RS1568490874 TCF4 Health Risk Pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS1568493323 CACNA1A Health Risk Pathogenic Episodic ataxia type 2, Episodic ataxia type 2
RS1568494824 CACNA1A Health Risk Pathogenic/Likely pathogenic Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS1568495944 CACNA1A Health Risk Pathogenic —
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