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
RS1599569966 DNM2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate B, Charcot-Marie-Tooth disease dominant intermediate B
RS1599570613 TCF4 Health Risk Pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS1599570895 ASXL3 Health Risk Pathogenic/Likely pathogenic Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
RS1599571406 ASXL3 Health Risk Pathogenic Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
RS1599571722 ASXL3 Health Risk Likely pathogenic Marfanoid habitus and intellectual disability, Marfanoid habitus and intellectual disability
RS1599572151 ASXL3 Health Risk Pathogenic Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
RS1599572831 ASXL3 Health Risk Pathogenic Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
RS1599572974 ASXL3 Health Risk Pathogenic Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
RS1599573656 ASXL3 Health Risk Conflicting classifications of pathogenicity Intellectual disability, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
RS1599573759 ASXL3 Health Risk Pathogenic/Likely pathogenic Global developmental delay, Atypical behavior
RS1599574018 ASXL3 Health Risk Conflicting classifications of pathogenicity Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
RS1599575096 ASXL3 Health Risk Likely pathogenic —
RS1599578081 EPG5 Health Risk Likely pathogenic Vici syndrome, Vici syndrome
RS1599616676 GCDH Health Risk Pathogenic Glutaric aciduria, type 1
RS1599617641 TBCD Health Risk Likely pathogenic Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
RS1599618968 GCDH Health Risk Pathogenic Glutaric aciduria, type 1
RS1599619080 GCDH Health Risk Pathogenic/Likely pathogenic Glutaric aciduria, type 1
RS1599619180 GCDH Health Risk Likely pathogenic Glutaric aciduria, type 1
RS1599620408 DNM2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease dominant intermediate B
RS1599625856 RYR1 Health Risk Likely pathogenic —
RS1599634435 ACP5 Health Risk Pathogenic Spondyloenchondrodysplasia with immune dysregulation, Spondyloenchondrodysplasia with immune dysregulation
RS1599634685 RYR1 Health Risk Conflicting classifications of pathogenicity Central core myopathy, Central core myopathy
RS1599635569 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, RYR1-related disorder
RS1599641280 RYR1 Health Risk Pathogenic/Likely pathogenic RYR1-related disorder, RYR1-related disorder
RS1599648136 SLC7A9 Health Risk Likely pathogenic Cystine urolithiasis, Cystinuria
RS1599649479 RYR1 Health Risk Likely pathogenic Arthrogryposis multiplex congenita, Fetal akinesia deformation sequence 1
RS1599651549 PLD3;PRX Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease, Spinocerebellar ataxia 46
RS1599651726 PRX Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 4F, Charcot-Marie-Tooth disease type 4F
RS1599652316 PRX Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS1599655206 PRX Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4F, Charcot-Marie-Tooth disease
RS1599656136 PRX Health Risk Pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4
RS1599656507 PRX Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4F
RS1599656851 PRX Health Risk Pathogenic Charcot-Marie-Tooth disease, type I
RS1599656972 PRX Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4F, Charcot-Marie-Tooth disease
RS1599660141 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS1599662669 PRX Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease
RS1599662837 PRX Health Risk Pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease
RS1599662861 PRX Health Risk Pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4F
RS1599663316 PIGN Health Risk Conflicting classifications of pathogenicity Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS1599665128 RYR1 Health Risk Likely pathogenic —
RS1599665134 KMT2B Health Risk Pathogenic Dystonia 28, childhood-onset
RS1599668553 KMT2B Health Risk Pathogenic Dystonia 28, childhood-onset
RS1599669836 KMT2B Health Risk Likely pathogenic —
RS1599673988 RYR1 Health Risk Pathogenic Arthrogryposis multiplex congenita, Fetal akinesia deformation sequence 1
RS1599674179 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS1599674197 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, RYR1-related disorder
RS1599676503 KMT2B Health Risk Pathogenic Dystonic disorder, Dystonic disorder
RS1599677213 KMT2B Health Risk Pathogenic Specific learning disability, Dystonic disorder
RS1599679995 KMT2B Health Risk Likely pathogenic Dystonia 28, childhood-onset
RS1599680351 KMT2B Health Risk Likely pathogenic Dystonia 28, childhood-onset
RS1599684627 SLC7A9 Health Risk Likely pathogenic Cystine urolithiasis, Cystine urolithiasis
RS1599687853 KMT2B Health Risk Likely pathogenic Dystonia 28, childhood-onset
RS1599688589 SLC7A9 Health Risk Pathogenic/Likely pathogenic Cystine urolithiasis, Cystinuria
RS1599689373 KMT2B Health Risk Likely pathogenic Dystonia 28, childhood-onset
RS1599695744 KMT2B Health Risk Pathogenic Generalized dystonia, Dysarthria
RS1599705281 ATP1A3 Health Risk Likely pathogenic Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome, Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
RS1599705282 ATP1A3 Health Risk Conflicting classifications of pathogenicity Dystonia 12, Dystonia 12
RS1599706511 ATP1A3 Health Risk Likely pathogenic Dystonia 12, Dystonia 12
RS1599706522 ATP1A3 Health Risk Pathogenic/Likely pathogenic Alternating hemiplegia of childhood, ATP1A3-associated neurological disorder
RS1599706613 ATP1A3 Health Risk Likely pathogenic Dystonia 12, Dystonia 12
RS1599712456 ATP1A3 Health Risk Likely pathogenic Dystonia 12, Dystonia 12
RS1599712523 ATP1A3 Health Risk Likely pathogenic Dystonia 12, Dystonia 12
RS1599715062 ATP1A3 Health Risk Conflicting classifications of pathogenicity Dystonia 12, Dystonia 12
RS1599715325 ATP1A3 Health Risk Likely pathogenic Alternating hemiplegia of childhood 2, Alternating hemiplegia of childhood 2
RS1599715341 ATP1A3 Health Risk Likely pathogenic Dystonia 12, Dystonia 12
RS1599716037 RTTN Health Risk Pathogenic Microcephalic primordial dwarfism due to RTTN deficiency, Microcephalic primordial dwarfism due to RTTN deficiency
RS1599719130 ATP1A3 Health Risk Likely pathogenic Dystonia 12, Dystonia 12
RS1599719527 ATP1A3 Health Risk Likely pathogenic Epileptic encephalopathy, Epileptic encephalopathy
RS1599719534 ATP1A3 Health Risk Likely pathogenic Dystonia 12, Dystonia 12
RS1599723609 ATP1A3 Health Risk Conflicting classifications of pathogenicity Dystonia 12, Dystonia 12
RS1599724778 ERCC2 Health Risk Pathogenic/Likely pathogenic Cerebrooculofacioskeletal syndrome 2, Cerebrooculofacioskeletal syndrome 2
RS1599725621 ATP1A3 Health Risk Pathogenic/Likely pathogenic Dystonia 12, Hereditary ataxia
RS1599726017 ATP1A3 Health Risk Conflicting classifications of pathogenicity Dystonia 12, Dystonia 12
RS1599737421 NFIX Health Risk Pathogenic Malan overgrowth syndrome, Marshall-Smith syndrome
RS1599737896 NFIX Health Risk Pathogenic —
RS1599738036 NFIX Health Risk Pathogenic Marshall-Smith syndrome, Malan overgrowth syndrome
RS1599738349 NFIX Health Risk Pathogenic Marshall-Smith syndrome, Marshall-Smith syndrome
RS1599738398 NFIX Health Risk Pathogenic/Likely pathogenic Marfanoid habitus and intellectual disability, Marfanoid habitus and intellectual disability
RS1599738608 NFIX Health Risk Pathogenic —
RS1599744167 AXL Health Risk Likely pathogenic NK-cell enteropathy, NK-cell enteropathy
RS1599751192 DHX34 Health Risk Likely pathogenic 6 conditions, Neurodevelopmental disorders
RS1599753508 ERCC2 Health Risk Likely pathogenic Cerebrooculofacioskeletal syndrome 2, Cerebrooculofacioskeletal syndrome 2
RS1599759068 SPTBN4 Health Risk Likely pathogenic —
RS1599759554 CALM3 Health Risk Pathogenic Long QT syndrome 16, Long QT syndrome 16
RS1599759598 CALM3 Health Risk Pathogenic Long QT syndrome 16, Long QT syndrome 1
RS1599760058 WDR62 Health Risk Pathogenic Microcephaly 2, primary
RS1599774265 WDR62 Health Risk Likely pathogenic —
RS1599784374 RFXANK Health Risk Pathogenic/Likely pathogenic MHC class II deficiency, MHC class II deficiency
RS1599784393 RFXANK Health Risk Likely pathogenic MHC class II deficiency, MHC class II deficiency
RS1599794560 SPTBN4 Health Risk Likely pathogenic Neurodevelopmental disorder with hypotonia, neuropathy
RS1599805729 WDR62 Health Risk Pathogenic —
RS1599808202 GPX4 Health Risk Likely pathogenic —
RS1599810980 GPX4 Health Risk Pathogenic Spondylometaphyseal dysplasia, Sedaghatian type
RS1599814534 CEACAM16 Health Risk Likely pathogenic Nonsyndromic genetic hearing loss, Nonsyndromic genetic hearing loss
RS1599819198 SPTBN4 Health Risk Likely pathogenic —
RS1599820741 ERF Health Risk Likely pathogenic —
RS1599823350 ERF Health Risk Likely pathogenic Lambdoidal craniosynostosis, Lambdoidal craniosynostosis
RS1599835856 NPHS1 Health Risk Likely pathogenic Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS1599841026 WDR62 Health Risk Pathogenic Microcephaly 2, primary
RS1599842537 NLRP12 Health Risk Pathogenic/Likely pathogenic Familial cold autoinflammatory syndrome 2, See cases
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