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
RS1555690804 RAB11B Health Risk Pathogenic/Likely pathogenic Neurodevelopmental disorder with ataxic gait, absent speech
RS1555691353 MC4R Health Risk Likely pathogenic —
RS1555691399 CYB5A Health Risk Likely pathogenic Methemoglobinemia type 4, Methemoglobinemia type 4
RS1555691402 MC4R Health Risk Conflicting classifications of pathogenicity BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20, Obesity
RS1555692916 PDE6G Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS1555693029 ZBTB7A Health Risk Pathogenic Macrocephaly, neurodevelopmental delay
RS1555693515 ATP8B1 Health Risk Conflicting classifications of pathogenicity —
RS1555693714 BPTF Health Risk Pathogenic Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, Secondary microcephaly
RS1555694770 PIGN Health Risk Likely pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS1555695342 ATP5F1A Health Risk Pathogenic/Likely pathogenic Lactic acidosis, Mitochondrial complex V (ATP synthase) deficiency
RS1555696484 NFIX Health Risk Pathogenic/Likely pathogenic Malan overgrowth syndrome, Marshall-Smith syndrome
RS1555696499 NFIX Health Risk Pathogenic/Likely pathogenic Marshall-Smith syndrome, Inborn genetic diseases
RS1555696587 NFIX Health Risk Pathogenic —
RS1555696597 NFIX Health Risk Likely pathogenic Malan overgrowth syndrome, Marshall-Smith syndrome
RS1555696603 NFIX Health Risk Pathogenic Malan overgrowth syndrome, NFIX-related disorder
RS1555696611 NFIX Health Risk Pathogenic Marshall-Smith syndrome, Malan overgrowth syndrome
RS1555696625 NFIX Health Risk Pathogenic Marshall-Smith syndrome, Marshall-Smith syndrome
RS1555696641 NFIX Health Risk Likely pathogenic Malan overgrowth syndrome, Malan overgrowth syndrome
RS1555696660 NFIX Health Risk Likely pathogenic —
RS1555696769 PIGN Health Risk Pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS1555696933 MAP2K2 Health Risk Conflicting classifications of pathogenicity Noonan syndrome and Noonan-related syndrome, Cardiovascular phenotype
RS1555697020 DOCK6 Health Risk Pathogenic/Likely pathogenic Adams-Oliver syndrome 2, Adams-Oliver syndrome 2
RS1555699052 STRADA Health Risk Pathogenic Self-limited epilepsy with centrotemporal spikes, Self-limited epilepsy with centrotemporal spikes
RS1555702147 GNA11 Health Risk Conflicting classifications of pathogenicity Lobular capillary hemangiomas, CLOVES syndrome
RS1555702261 GDF1 Health Risk Likely pathogenic Right atrial isomerism, Right atrial isomerism
RS1555703272 SLC25A10 Health Risk Likely pathogenic Mitochondrial complex I deficiency, Mitochondrial DNA depletion syndrome 19
RS1555704436 RTTN Health Risk Pathogenic —
RS1555705276 NFIX Health Risk Pathogenic —
RS1555705733 NFIX Health Risk Pathogenic Marshall-Smith syndrome, Marshall-Smith syndrome
RS1555705966 SETBP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 29
RS1555705992 MAN2B1 Health Risk Likely pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS1555706137 MAN2B1 Health Risk Conflicting classifications of pathogenicity Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS1555706185 MAN2B1 Health Risk Likely pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS1555706333 SETBP1 Health Risk Pathogenic —
RS1555706391 SETBP1 Health Risk Pathogenic Inborn genetic diseases, Intellectual disability
RS1555706476 SETBP1 Health Risk Pathogenic —
RS1555706499 SETBP1 Health Risk Pathogenic —
RS1555706596 MAN2B1 Health Risk Likely pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS1555706706 MAN2B1 Health Risk Pathogenic Inborn genetic diseases, Deficiency of alpha-mannosidase
RS1555706752 MAN2B1 Health Risk Likely pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS1555706774 MAN2B1 Health Risk Likely pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS1555706928 SETBP1 Health Risk Likely pathogenic 8 conditions, 8 conditions
RS1555707087 MAN2B1 Health Risk Likely pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS1555707336 RTTN Health Risk Pathogenic/Likely pathogenic MICROCEPHALY, SHORT STATURE
RS1555707363 NFIX Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555708126 MAN2B1 Health Risk Likely pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS1555708156 MAN2B1 Health Risk Likely pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS1555708227 TCF4 Health Risk Likely pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS1555708276 LONP1 Health Risk Likely pathogenic —
RS1555709349 ELANE Health Risk Likely pathogenic —
RS1555709367 ELANE Health Risk Likely pathogenic —
RS1555709533 MAN2B1 Health Risk Likely pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS1555709893 TCF4 Health Risk Pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS1555709972 MAN2B1 Health Risk Pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS1555710005 ELANE Health Risk Pathogenic Cyclical neutropenia, Neutropenia
RS1555710069 TCF4 Health Risk Pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS1555710070 MAN2B1 Health Risk Pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS1555710077 ELANE Health Risk Likely pathogenic —
RS1555710089 ELANE Health Risk Likely pathogenic Neutropenia, severe congenital
RS1555710107 TCF4 Health Risk Pathogenic —
RS1555710127 TCF4 Health Risk Likely pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS1555710171 TCF4 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555710223 TCF4 Health Risk Pathogenic Microcephaly, Pitt-Hopkins syndrome
RS1555710254 MAN2B1 Health Risk Likely pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS1555710416 TCF4 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555710523 TCF4 Health Risk Likely pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS1555710726 TCF4 Health Risk Pathogenic/Likely pathogenic Pitt-Hopkins syndrome, Inborn genetic diseases
RS1555710757 TCF4 Health Risk Pathogenic/Likely pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS1555710813 TCF4 Health Risk Pathogenic/Likely pathogenic TCF4-related disorder, Pitt-Hopkins syndrome
RS1555710866 TCF4 Health Risk Pathogenic —
RS1555711142 TCF4 Health Risk Pathogenic/Likely pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS1555711245 TCF4 Health Risk Pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS1555712474 TCF3 Health Risk Conflicting classifications of pathogenicity —
RS1555713236 LONP1 Health Risk Likely pathogenic —
RS1555713731 LONP1 Health Risk Likely pathogenic —
RS1555714808 C19orf12 Health Risk Conflicting classifications of pathogenicity Neurodegeneration with brain iron accumulation 4, Inborn genetic diseases
RS1555715029 LONP1 Health Risk Likely pathogenic —
RS1555715869 DNM2 Health Risk Pathogenic Charcot-Marie-Tooth disease dominant intermediate B, Autosomal dominant centronuclear myopathy
RS1555716523 EPOR Health Risk Likely pathogenic —
RS1555716575 GPX4 Health Risk Likely pathogenic Spondylometaphyseal dysplasia, Sedaghatian type
RS1555716802 TRMT1 Health Risk Likely pathogenic —
RS1555717153 RTTN Health Risk Likely pathogenic —
RS1555717982 TCF4 Health Risk Pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS1555718063 TCF4 Health Risk Pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS1555718354 TCF4 Health Risk Likely pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS1555718410 TCF4 Health Risk Pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS1555718426 TCF4 Health Risk Pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS1555719172 TXNL4A Health Risk Likely pathogenic Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome, Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome
RS1555719766 CLPP Health Risk Pathogenic Perrault syndrome 3, Perrault syndrome 3
RS1555719851 TYK2 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 35, Immunodeficiency 35
RS1555719963 TYK2 Health Risk Pathogenic/Likely pathogenic Immunodeficiency 35, Immunodeficiency 35
RS1555720521 LAMA3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1555720728 SCN1B Health Risk Conflicting classifications of pathogenicity Brugada syndrome 5, Brugada syndrome 5
RS1555721549 SPTBN4 Health Risk Likely pathogenic Neurodevelopmental disorder with hypotonia, neuropathy
RS1555721815 LAMA3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1555721837 ODAD3 Health Risk Pathogenic Inborn genetic diseases, Primary ciliary dyskinesia 30
RS1555721921 TCF4 Health Risk Pathogenic Inborn genetic diseases, Pitt-Hopkins syndrome
RS1555722023 TCF4 Health Risk Likely pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS1555722264 NACC1 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder, Neurodevelopmental disorder
RS1555723585 WDR62 Health Risk Pathogenic Microcephaly 2, primary
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