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
RS1599844887 NFIX Health Risk Pathogenic Marshall-Smith syndrome, Marshall-Smith syndrome
RS1599845689 NPHS1 Health Risk Pathogenic Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS1599845714 NPHS1 Health Risk Pathogenic/Likely pathogenic Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS1599848690 NFIX Health Risk Pathogenic Marshall-Smith syndrome, Marshall-Smith syndrome
RS1599851667 WDR62 Health Risk Likely pathogenic Microcephaly 2, primary
RS1599852762 WDR62 Health Risk Likely pathogenic —
RS1599855670 NFIX Health Risk Pathogenic —
RS1599862139 NFIX Health Risk Pathogenic Marshall-Smith syndrome, Marshall-Smith syndrome
RS1599862357 NFIX Health Risk Pathogenic —
RS1599862464 NFIX Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS1599865356 RTTN Health Risk Likely pathogenic Microcephalic primordial dwarfism due to RTTN deficiency, Microcephalic primordial dwarfism due to RTTN deficiency
RS1599869510 TBXA2R Health Risk Likely pathogenic Abnormal platelet aggregation, Abnormal platelet aggregation
RS1599873586 JAK3 Health Risk Pathogenic NK-cell enteropathy, NK-cell enteropathy
RS1599873591 JAK3 Health Risk Pathogenic T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency
RS1599874183 INSR Health Risk Likely pathogenic —
RS1599875856 TNNT1 Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 5, Nemaline myopathy 5
RS1599876167 JAK3 Health Risk Likely pathogenic T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency
RS1599879104 LTBP4 Health Risk Likely pathogenic Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
RS1599879570 NLRP12 Health Risk Conflicting classifications of pathogenicity NLRP12-related disorder, Familial cold autoinflammatory syndrome 2
RS1599881881 INSR Health Risk Likely pathogenic —
RS1599889628 UBA2 Health Risk Pathogenic UBA2-related disorder, ACCES syndrome
RS1599890939 CIC Health Risk Likely pathogenic —
RS1599892470 CIC Health Risk Pathogenic Intellectual disability, autosomal dominant 45
RS1599893542 TGFB1 Health Risk Likely pathogenic Diaphyseal dysplasia, Diaphyseal dysplasia
RS1599896616 TNNT1 Health Risk Pathogenic Nemaline myopathy 5, Nemaline myopathy 5
RS1599907512 TNNI3 Health Risk Conflicting classifications of pathogenicity Familial restrictive cardiomyopathy, Familial restrictive cardiomyopathy
RS1599910596 CIC Health Risk Likely pathogenic —
RS1599914720 STK11 Health Risk Conflicting classifications of pathogenicity Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS1599914867 STK11 Health Risk Conflicting classifications of pathogenicity Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS1599914870 RTN2 Health Risk Likely pathogenic —
RS1599915131 STK11 Health Risk Pathogenic Peutz-Jeghers syndrome, Peutz-Jeghers syndrome
RS1599915235 STK11 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1599922006 COQ8B Health Risk Pathogenic Nephrotic syndrome, type 9
RS1599924500 STK11 Health Risk Likely pathogenic Peutz-Jeghers syndrome, Peutz-Jeghers syndrome
RS1599925298 STK11 Health Risk Conflicting classifications of pathogenicity Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS1599925303 STK11 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, STK11-related disorder
RS1599925344 SLC5A5 Health Risk Likely pathogenic —
RS1599925362 STK11 Health Risk Conflicting classifications of pathogenicity Marfanoid habitus and intellectual disability, Peutz-Jeghers syndrome
RS1599926497 STK11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1599926521 STK11 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
RS1599927564 STK11 Health Risk Pathogenic Peutz-Jeghers syndrome, Peutz-Jeghers syndrome
RS1599927573 STK11 Health Risk Pathogenic Peutz-Jeghers syndrome, Peutz-Jeghers syndrome
RS1599927589 STK11 Health Risk Pathogenic Peutz-Jeghers syndrome, Peutz-Jeghers syndrome
RS1599927622 STK11 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1599927645 STK11 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1599927689 STK11 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1599927721 CIC Health Risk Likely pathogenic CIC-related disorder, CIC-related disorder
RS1599928248 STK11 Health Risk Conflicting classifications of pathogenicity Peutz-Jeghers syndrome, Peutz-Jeghers syndrome
RS1599928254 STK11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
RS1599928360 STK11 Health Risk Pathogenic Peutz-Jeghers syndrome, Peutz-Jeghers syndrome
RS1599929258 STK11 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1599929264 STK11 Health Risk Pathogenic —
RS1599929335 STK11 Health Risk Pathogenic Peutz-Jeghers syndrome, Peutz-Jeghers syndrome
RS1599929339 STK11 Health Risk Pathogenic Peutz-Jeghers syndrome, Peutz-Jeghers syndrome
RS1599929369 STK11 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
RS1599937180 INSR Health Risk Likely pathogenic Hyperinsulinism due to INSR deficiency, Hyperinsulinism due to INSR deficiency
RS1599937963 FKRP Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2I, Autosomal recessive limb-girdle muscular dystrophy type 2I
RS1599938271 FKRP Health Risk Likely pathogenic —
RS1599938631 PRKCG Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 14, Spinocerebellar ataxia type 14
RS1599939853 FKRP Health Risk Pathogenic/Likely pathogenic Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS1599941421 SMARCA4 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1599941622 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS1599942345 SMARCA4 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1599943097 PRKCG Health Risk Likely pathogenic Spinocerebellar ataxia type 14, Spinocerebellar ataxia type 14
RS1599949380 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS1599953368 TGM6 Health Risk Likely pathogenic —
RS1599959574 SLC52A3 Health Risk Pathogenic Progressive bulbar palsy of childhood, Progressive bulbar palsy of childhood
RS1599962569 BCKDHA Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease
RS1599964721 OPA3 Health Risk Conflicting classifications of pathogenicity 3-Methylglutaconic aciduria type 3, Optic atrophy 3
RS1599968129 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS1599982861 ETHE1 Health Risk Conflicting classifications of pathogenicity Ethylmalonic encephalopathy, Ethylmalonic encephalopathy
RS1599991268 CRX Health Risk Pathogenic Stargardt disease, Leber congenital amaurosis 7
RS1599991538 CRX Health Risk Likely pathogenic Leber congenital amaurosis 1, Leber congenital amaurosis 1
RS1599991611 CRX Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis 1, Leber congenital amaurosis 7
RS1599992622 CRX Health Risk Likely pathogenic Stargardt disease, Stargardt disease
RS1599992745 CRX Health Risk Likely pathogenic Cone-rod dystrophy 2, Leber congenital amaurosis 7
RS1600004624 VPS16 Health Risk Pathogenic Dystonia 30, Dystonia 30
RS1600019095 ETHE1 Health Risk Pathogenic Ethylmalonic encephalopathy, Ethylmalonic encephalopathy
RS1600021258 CEBPA Health Risk Likely pathogenic Acute myeloid leukemia, Acute myeloid leukemia
RS1600021341 CEBPA Health Risk Conflicting classifications of pathogenicity Acute myeloid leukemia, Inborn genetic diseases
RS1600022240 CEBPA Health Risk Conflicting classifications of pathogenicity Acute myeloid leukemia, Inborn genetic diseases
RS1600023511 CEBPA Health Risk Pathogenic Acute myeloid leukemia, Acute myeloid leukemia
RS1600023950 CEBPA Health Risk Pathogenic Acute myeloid leukemia, Acute myeloid leukemia
RS1600068013 SMARCA4 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1600069637 PEPD Health Risk Likely pathogenic —
RS1600073584 U2AF2 Health Risk Pathogenic Developmental delay, dysmorphic facies
RS1600081783 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS1600082188 SMARCA4 Health Risk Pathogenic Intellectual disability, autosomal dominant 16
RS1600082359 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS1600088360 CACNA1A Health Risk Likely pathogenic Episodic ataxia type 2, Episodic ataxia type 2
RS1600096061 PEPD Health Risk Likely pathogenic —
RS1600114562 CACNA1A Health Risk Pathogenic Developmental and epileptic encephalopathy, 42
RS1600120873 FTL Health Risk Pathogenic Hereditary hyperferritinemia with congenital cataracts, Neuroferritinopathy
RS1600127096 CACNA1A Health Risk Likely pathogenic —
RS1600130724 CACNA1A Health Risk Pathogenic —
RS1600133088 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS1600139005 CACNA1A Health Risk Pathogenic Developmental and epileptic encephalopathy, 42
RS1600139781 CACNA1A Health Risk Pathogenic/Likely pathogenic Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS1600147235 PEPD Health Risk Pathogenic Prolidase deficiency, Prolidase deficiency
RS1600152215 CACNA1A Health Risk Pathogenic —
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