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
RS2148058081 PHKA2 Health Risk Pathogenic/Likely pathogenic Glycogen storage disease IXa1, Glycogen storage disease IXa1
RS2148058653 KDM6A Health Risk Pathogenic Kabuki syndrome 2, Thyroid cancer
RS2148058668 KDM6A Health Risk Pathogenic Kabuki syndrome 2, Kabuki syndrome 2
RS2148059524 NBAS Health Risk Pathogenic —
RS2148060260 CAD Health Risk Likely pathogenic —
RS2148060407 OTOF Health Risk Pathogenic Bilateral sensorineural hearing impairment, Bilateral sensorineural hearing impairment
RS2148060432 OTOF Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
RS2148061633 RYR2 Health Risk Likely pathogenic —
RS2148063184 CAD Health Risk Pathogenic —
RS2148066296 ODC1 Health Risk Pathogenic —
RS2148066893 SRD5A2 Health Risk Pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
RS2148069969 GBA1 Health Risk Likely pathogenic —
RS2148070287 GBA1 Health Risk Pathogenic Gaucher disease, Gaucher disease
RS2148070579 GBA1 Health Risk Pathogenic Gaucher disease, Gaucher disease
RS2148071537 GBA1 Health Risk Pathogenic Gaucher disease perinatal lethal, Gaucher disease perinatal lethal
RS2148073370 GBA1 Health Risk Pathogenic Gaucher disease, Gaucher disease
RS2148075419 GBA1 Health Risk Pathogenic Gaucher disease, Gaucher disease
RS2148075570 GBA1 Health Risk Conflicting classifications of pathogenicity —
RS2148076506 GBA1 Health Risk Likely pathogenic —
RS2148078325 CAD Health Risk Pathogenic —
RS2148078546 OTOF Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
RS2148079453 GBA1 Health Risk Pathogenic/Likely pathogenic —
RS2148079606 GBA1 Health Risk Likely pathogenic —
RS2148080342 CAD Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 50
RS2148089318 XIAP Health Risk Pathogenic X-linked lymphoproliferative disease due to XIAP deficiency, X-linked lymphoproliferative disease due to XIAP deficiency
RS2148089574 XIAP Health Risk Likely pathogenic —
RS2148089962 XIAP Health Risk Pathogenic/Likely pathogenic X-linked lymphoproliferative disease due to XIAP deficiency, X-linked lymphoproliferative disease due to XIAP deficiency
RS2148090158 XIAP Health Risk Pathogenic X-linked lymphoproliferative disease due to XIAP deficiency, X-linked lymphoproliferative disease due to XIAP deficiency
RS2148090201 XIAP Health Risk Conflicting classifications of pathogenicity X-linked lymphoproliferative disease due to XIAP deficiency, X-linked lymphoproliferative disease due to XIAP deficiency
RS2148090291 XIAP Health Risk Likely pathogenic Autoinflammatory syndrome, Autoinflammatory syndrome
RS2148090502 NBAS Health Risk Pathogenic Short stature-optic atrophy-Pelger-Huët anomaly syndrome, Short stature-optic atrophy-Pelger-Huët anomaly syndrome
RS2148090735 ATRX Health Risk Likely pathogenic Intellectual disability-hypotonic facies syndrome, X-linked
RS2148092534 CAD Health Risk Pathogenic —
RS2148092759 XIAP Health Risk Pathogenic X-linked lymphoproliferative disease due to XIAP deficiency, X-linked lymphoproliferative disease due to XIAP deficiency
RS2148092792 XIAP Health Risk Pathogenic X-linked lymphoproliferative disease due to XIAP deficiency, X-linked lymphoproliferative disease due to XIAP deficiency
RS2148093265 PCNT Health Risk Likely pathogenic Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II
RS2148093442 PCNT Health Risk Pathogenic Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II
RS2148096152 XIAP Health Risk Pathogenic X-linked lymphoproliferative disease due to XIAP deficiency, Nonpapillary renal cell carcinoma
RS2148096182 XIAP Health Risk Pathogenic X-linked lymphoproliferative disease due to XIAP deficiency, X-linked lymphoproliferative disease due to XIAP deficiency
RS2148097889 XIAP Health Risk Likely pathogenic X-linked lymphoproliferative disease due to XIAP deficiency, Thyroid cancer
RS2148100379 FLNA Health Risk Pathogenic Patent foramen ovale, Dysplastic corpus callosum
RS2148100720 FOSL2 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2148101204 FLNA Health Risk Pathogenic HETEROTOPIA, PERIVENTRICULAR NODULAR
RS2148101228 FLNA Health Risk Pathogenic Heterotopia, periventricular
RS2148102202 FLNA Health Risk Likely pathogenic Oto-palato-digital syndrome, type II
RS2148102210 FLNA Health Risk Pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2148102297 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS2148102743 DEPDC5 Health Risk Likely pathogenic Familial focal epilepsy with variable foci, Inborn genetic diseases
RS2148102980 FLNA Health Risk Likely pathogenic Frontometaphyseal dysplasia, Oto-palato-digital syndrome
RS2148103004 FLNA Health Risk Pathogenic Melnick-Needles syndrome, Heterotopia
RS2148103087 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS2148103123 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS2148103177 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS2148103243 DEPDC5 Health Risk Pathogenic/Likely pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS2148103458 FLNA Health Risk Pathogenic Melnick-Needles syndrome, Heterotopia
RS2148103774 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS2148103917 FLNA Health Risk Pathogenic Melnick-Needles syndrome, Frontometaphyseal dysplasia
RS2148104272 FLNA Health Risk Likely pathogenic Attenuated frontometaphyseal dysplasia, Attenuated frontometaphyseal dysplasia
RS2148104376 FLNA Health Risk Likely pathogenic Heterotopia, periventricular
RS2148104615 FLNA Health Risk Pathogenic Melnick-Needles syndrome, Frontometaphyseal dysplasia
RS2148104651 FLNA Health Risk Pathogenic Heterotopia, periventricular
RS2148104758 FLNA Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2148104977 FLNA Health Risk Pathogenic —
RS2148105341 FLNA Health Risk Likely pathogenic Macrothrombocytopenia, Macrothrombocytopenia
RS2148105583 FLNA Health Risk Pathogenic —
RS2148106461 FLNA Health Risk Pathogenic Abnormal cerebral morphology, Abnormal cerebral morphology
RS2148106783 TAF1 Health Risk Likely pathogenic; association Intellectual disability, X-linked
RS2148107375 FLNA Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2148107380 FLNA Health Risk Likely pathogenic Melnick-Needles syndrome, Melnick-Needles syndrome
RS2148107418 FLNA Health Risk Pathogenic —
RS2148107447 SRD5A2 Health Risk Conflicting classifications of pathogenicity 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
RS2148107588 FLNA Health Risk Likely pathogenic —
RS2148111202 FLNA Health Risk Pathogenic Melnick-Needles syndrome, Heterotopia
RS2148111417 FLNA Health Risk Pathogenic Melnick-Needles syndrome, Frontometaphyseal dysplasia
RS2148111675 FLNA Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II
RS2148112023 CHM Health Risk Pathogenic —
RS2148112149 XIAP Health Risk Pathogenic X-linked lymphoproliferative disease due to XIAP deficiency, X-linked lymphoproliferative disease due to XIAP deficiency
RS2148112156 XIAP Health Risk Likely pathogenic X-linked lymphoproliferative disease due to XIAP deficiency, X-linked lymphoproliferative disease due to XIAP deficiency
RS2148112215 XIAP Health Risk Pathogenic X-linked lymphoproliferative disease due to XIAP deficiency, X-linked lymphoproliferative disease due to XIAP deficiency
RS2148113604 FLNA Health Risk Pathogenic Oto-palato-digital syndrome, type II
RS2148113628 FLNA Health Risk Pathogenic Melnick-Needles syndrome, Frontometaphyseal dysplasia
RS2148113975 FLNA Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II
RS2148114051 FLNA Health Risk Pathogenic Heterotopia, periventricular
RS2148114607 FLNA Health Risk Likely pathogenic Heterotopia, periventricular
RS2148115298 PCNT Health Risk Pathogenic Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II
RS2148115776 FLNA Health Risk Pathogenic Melnick-Needles syndrome, Frontometaphyseal dysplasia
RS2148115834 FLNA Health Risk Likely pathogenic Heterotopia, periventricular
RS2148116120 CASK Health Risk Pathogenic Intellectual disability, CASK-related
RS2148116288 FLNA Health Risk Pathogenic Melnick-Needles syndrome, Heterotopia
RS2148117604 KDM6A Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 2, Kabuki syndrome 2
RS2148118072 FLNA Health Risk Pathogenic Oto-palato-digital syndrome, type II
RS2148118126 FLNA Health Risk Pathogenic/Likely pathogenic Melnick-Needles syndrome, Frontometaphyseal dysplasia
RS2148118664 KDM6A Health Risk Pathogenic —
RS2148118942 FLNA Health Risk Pathogenic Melnick-Needles syndrome, Frontometaphyseal dysplasia
RS2148118964 FLNA Health Risk Pathogenic Melnick-Needles syndrome, Frontometaphyseal dysplasia
RS2148119164 FLNA Health Risk Pathogenic Oto-palato-digital syndrome, type II
RS2148119182 FLNA Health Risk Pathogenic Oto-palato-digital syndrome, type II
RS2148119316 FLNA Health Risk Likely pathogenic Melnick-Needles syndrome, Frontometaphyseal dysplasia
RS2148119354 FLNA Health Risk Pathogenic Melnick-Needles syndrome, Frontometaphyseal dysplasia
RS2148119399 FLNA Health Risk Likely pathogenic See cases, See cases
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