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
RS2102152703 POGZ Health Risk Likely pathogenic —
RS2102152727 POGZ Health Risk Pathogenic Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome, Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
RS2102152736 POGZ Health Risk Likely pathogenic Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome, Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
RS2102154885 CACNA1S Health Risk Pathogenic Hypokalemic periodic paralysis, type 1
RS2102154917 PKP1 Health Risk Likely pathogenic Epidermolysis bullosa simplex due to plakophilin deficiency, Epidermolysis bullosa simplex due to plakophilin deficiency
RS2102155019 POGZ Health Risk Likely pathogenic Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome, Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
RS2102156036 DDR2 Health Risk Pathogenic —
RS2102164714 POGZ Health Risk Likely pathogenic Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome, Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
RS2102164740 CACNA1S Health Risk Pathogenic Hypokalemic periodic paralysis, type 1
RS2102180282 CD84 Health Risk risk factor Multisystem inflammatory syndrome in children, Multisystem inflammatory syndrome in children
RS2102181621 NEXN Health Risk Conflicting classifications of pathogenicity Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction cardiomyopathy
RS2102193959 CACNA1S Health Risk Pathogenic Malignant hyperthermia, susceptibility to
RS2102193989 CACNA1S Health Risk Pathogenic Hypokalemic periodic paralysis, type 1
RS2102196403 LAMC2 Health Risk Pathogenic Epidermolysis bullosa, junctional 3B
RS2102196755 LAMC2 Health Risk Pathogenic —
RS2102198946 DDR2 Health Risk Pathogenic —
RS2102206250 DDR2 Health Risk Likely pathogenic Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome, Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
RS2102207884 KDM5B Health Risk Likely pathogenic —
RS2102216546 KDM5B Health Risk Pathogenic —
RS2102216749 TNNT2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy 2
RS2102219621 LAMC2 Health Risk Likely pathogenic —
RS2102222177 LAMC2 Health Risk Pathogenic —
RS2102222351 LAMC2 Health Risk Pathogenic —
RS2102222423 LAMC2 Health Risk Pathogenic —
RS2102228165 LAMC2 Health Risk Pathogenic —
RS2102228301 LAMC2 Health Risk Pathogenic Junctional epidermolysis bullosa, non-Herlitz type
RS2102228390 LAMC2 Health Risk Pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS2102230512 LAMC2 Health Risk Pathogenic —
RS2102230520 LAMC2 Health Risk Likely pathogenic —
RS2102231460 LAMC2 Health Risk Pathogenic Epidermolysis bullosa, junctional 3B
RS2102232815 KDM5B Health Risk Likely pathogenic Intellectual disability, autosomal recessive 65
RS2102233137 LAMC2 Health Risk Pathogenic —
RS2102233308 LAMC2 Health Risk Pathogenic —
RS2102237469 LAMC2 Health Risk Pathogenic —
RS2102239920 LAMC2 Health Risk Likely pathogenic —
RS2102239935 LAMC2 Health Risk Pathogenic —
RS2102245114 LAMC2 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS2102245341 LAMC2 Health Risk Pathogenic —
RS2102245377 LAMC2 Health Risk Pathogenic —
RS2102247050 LAMC2 Health Risk Pathogenic —
RS2102247202 LAMC2 Health Risk Pathogenic —
RS2102248662 LAMC2 Health Risk Pathogenic —
RS2102250197 LAMC2 Health Risk Pathogenic —
RS2102253629 LAMC2 Health Risk Pathogenic —
RS2102257349 MPZ Health Risk Pathogenic Charcot-Marie-Tooth disease type 1B, Charcot-Marie-Tooth disease type 1B
RS2102257572 MPZ Health Risk Pathogenic Charcot-Marie-Tooth disease, type I
RS2102257979 MPZ Health Risk Pathogenic Charcot-Marie-Tooth disease, type I
RS2102258267 LAMC2 Health Risk Pathogenic Junctional epidermolysis bullosa, non-Herlitz type
RS2102258343 MPZ Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 1B, Charcot-Marie-Tooth disease type 1B
RS2102258700 MPZ Health Risk Pathogenic Charcot-Marie-Tooth disease, type I
RS2102258958 MPZ Health Risk Pathogenic Charcot-Marie-Tooth disease, type I
RS2102259042 MPZ Health Risk Pathogenic Charcot-Marie-Tooth disease, type I
RS2102259270 MPZ Health Risk Likely pathogenic —
RS2102259303 DPYD Health Risk Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS2102259979 MPZ Health Risk Pathogenic Charcot-Marie-Tooth disease, type I
RS2102260015 MPZ Health Risk Likely pathogenic Charcot-Marie-Tooth disease, type I
RS2102260097 MPZ Health Risk Likely pathogenic Motor neuron disease, Motor neuron disease
RS2102260140 MPZ Health Risk Pathogenic —
RS2102260263 MPZ Health Risk Likely pathogenic Peripheral neuropathy, Charcot-Marie-Tooth disease
RS2102261144 TNNT2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 2, Cardiomyopathy
RS2102262030 KDM5B Health Risk Conflicting classifications of pathogenicity —
RS2102262330 TNNT2 Health Risk Likely pathogenic Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D
RS2102271857 SDHC Health Risk Likely pathogenic Gastrointestinal stromal tumor, Pheochromocytoma/paraganglioma syndrome 3
RS2102278173 KDM5B Health Risk Likely pathogenic —
RS2102295668 POGZ Health Risk Pathogenic —
RS2102302158 PBX1 Health Risk Pathogenic Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears
RS2102302170 PBX1 Health Risk Pathogenic/Likely pathogenic Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears
RS2102302841 POGZ Health Risk Pathogenic —
RS2102303238 POGZ Health Risk Pathogenic Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome, Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
RS2102307516 SDHC Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Pheochromocytoma/paraganglioma syndrome 3
RS2102307538 SDHC Health Risk Pathogenic/Likely pathogenic Gastrointestinal stromal tumor, Pheochromocytoma/paraganglioma syndrome 3
RS2102307803 SDHC Health Risk Pathogenic Gastrointestinal stromal tumor, Pheochromocytoma/paraganglioma syndrome 3
RS2102307813 CR2 Health Risk Likely pathogenic Immunodeficiency, common variable
RS2102308703 CR2 Health Risk Pathogenic Immunodeficiency, common variable
RS2102314045 REN Health Risk Pathogenic Renal tubular dysgenesis, Renal tubular dysgenesis
RS2102319548 PBX1 Health Risk Pathogenic/Likely pathogenic Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears
RS2102319647 PBX1 Health Risk Likely pathogenic Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears
RS2102324115 COL11A1 Health Risk Likely pathogenic —
RS2102336180 SDHC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Pheochromocytoma/paraganglioma syndrome 3
RS2102336244 SDHC Health Risk Pathogenic Pheochromocytoma/paraganglioma syndrome 3, Gastrointestinal stromal tumor
RS2102336603 PBX1 Health Risk Pathogenic —
RS2102336635 PBX1 Health Risk Likely pathogenic Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears
RS2102345680 PBX1 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, PBX1-related disorder
RS2102345684 PBX1 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss
RS2102349814 KIF1B Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2102370188 SDHC Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2102370242 SDHC Health Risk Pathogenic Gastrointestinal stromal tumor, Pheochromocytoma/paraganglioma syndrome 3
RS2102370520 RNASEL Health Risk Likely pathogenic Ovarian cancer, Ovarian cancer
RS2102370766 POGZ Health Risk Likely pathogenic —
RS2102370816 POGZ Health Risk Likely pathogenic Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome, Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
RS2102384864 SDHC Health Risk Likely pathogenic Pheochromocytoma/paraganglioma syndrome 3, Pheochromocytoma/paraganglioma syndrome 3
RS2102385111 SDHC Health Risk Conflicting classifications of pathogenicity SDHC-related disorder, Gastrointestinal stromal tumor
RS2102393172 PTPRC Health Risk Pathogenic Immunodeficiency 104, Immunodeficiency 105
RS2102400448 KCNH1 Health Risk Pathogenic —
RS2102403618 LAMB3 Health Risk Pathogenic Junctional epidermolysis bullosa, non-Herlitz type
RS2102405073 LAMB3 Health Risk Pathogenic —
RS2102405986 LAMB3 Health Risk Pathogenic —
RS2102406610 LAMB3 Health Risk Pathogenic —
RS2102406831 LAMB3 Health Risk Pathogenic —
RS2102406873 KCNH1 Health Risk Likely pathogenic See cases, See cases
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