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
RS2124450330 SLC2A1 Health Risk Pathogenic —
RS2124450420 SLC2A1 Health Risk Pathogenic GLUT1 deficiency syndrome 1, autosomal recessive
RS2124450429 SLC2A1 Health Risk Likely pathogenic —
RS2124450471 SLC2A1 Health Risk Pathogenic GLUT1 deficiency syndrome 1, autosomal recessive
RS2124450697 SLC2A1 Health Risk Pathogenic Encephalopathy due to GLUT1 deficiency, GLUT1 deficiency syndrome 1
RS2124450705 SLC2A1 Health Risk Pathogenic Encephalopathy due to GLUT1 deficiency, Encephalopathy due to GLUT1 deficiency
RS2124450794 SLC2A1 Health Risk Likely pathogenic GLUT1 deficiency syndrome 1, autosomal recessive
RS2124450806 SLC2A1 Health Risk Pathogenic GLUT1 deficiency syndrome 1, autosomal recessive
RS2124450819 SLC2A1 Health Risk Likely pathogenic Encephalopathy due to GLUT1 deficiency, Encephalopathy due to GLUT1 deficiency
RS2124450830 SELENON Health Risk Pathogenic Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy
RS2124450914 SLC2A1 Health Risk Pathogenic —
RS2124450939 SLC2A1 Health Risk Pathogenic GLUT1 deficiency syndrome 1, autosomal recessive
RS2124450950 SLC2A1 Health Risk Pathogenic Dystonia 9, Encephalopathy due to GLUT1 deficiency
RS2124452873 SELENON Health Risk Pathogenic Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy
RS2124454648 SELENON Health Risk Pathogenic/Likely pathogenic Congenital myopathy 4A, autosomal dominant
RS2124461790 SLC2A1 Health Risk Pathogenic —
RS2124461913 SLC2A1 Health Risk Pathogenic Dystonia 9, Dystonia 9
RS2124461926 SLC2A1 Health Risk Pathogenic Dystonia 9, Dystonia 9
RS2124470378 PPT1 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS2124472229 PPT1 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS2124472385 PPT1 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS2124474476 PPT1 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS2124474566 PPT1 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS2124478725 SLC2A1 Health Risk Pathogenic Dystonia 9, Encephalopathy due to GLUT1 deficiency
RS2124478772 TP73 Health Risk Pathogenic Ciliary dyskinesia, primary
RS2124478855 SLC2A1 Health Risk Pathogenic/Likely pathogenic GLUT1 deficiency syndrome 1, autosomal recessive
RS2124479949 GPC3 Health Risk Pathogenic Wilms tumor 1, Wilms tumor 1
RS2124479966 GPC3 Health Risk Pathogenic Wilms tumor 1, Nonpapillary renal cell carcinoma
RS2124480362 GPC3 Health Risk Pathogenic Wilms tumor 1, Wilms tumor 1
RS2124484378 PPT1 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS2124486090 SRY Health Risk Likely pathogenic 46, XX sex reversal 1
RS2124486099 SRY Health Risk Pathogenic SRY-related disorder, SRY-related disorder
RS2124486144 SRY Health Risk Likely pathogenic SRY-related disorder, SRY-related disorder
RS2124486256 SRY Health Risk Likely pathogenic 46, XY sex reversal 1
RS2124486291 SRY Health Risk Likely pathogenic 46, XY disorder of sex development
RS2124486390 SRY Health Risk Pathogenic 46, XY sex reversal 1
RS2124487750 PPT1 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS2124487866 PPT1 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS2124487925 PPT1 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS2124487981 PPT1 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS2124489724 DHDDS Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa 59
RS2124491843 ATP2B3 Health Risk Likely pathogenic X-linked progressive cerebellar ataxia, X-linked progressive cerebellar ataxia
RS2124494531 PPT1 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS2124501559 DHDDS Health Risk Pathogenic Retinitis pigmentosa 59, Retinitis pigmentosa 59
RS2124508402 KDM1A Health Risk Likely pathogenic —
RS2124510562 PUM1 Health Risk Likely pathogenic Neurodevelopmental delay, Neurodevelopmental delay
RS2124520154 SOS1 Health Risk Conflicting classifications of pathogenicity Noonan syndrome and Noonan-related syndrome, RASopathy
RS2124521655 FMR1 Health Risk Likely pathogenic See cases, See cases
RS2124523419 KDM1A Health Risk Likely pathogenic Neurodevelopmental delay, Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome
RS2124524068 TP73 Health Risk Pathogenic Ciliary dyskinesia, primary
RS2124533497 TP73 Health Risk Pathogenic Ciliary dyskinesia, primary
RS2124537717 SOS1 Health Risk Conflicting classifications of pathogenicity RASopathy, RASopathy
RS2124538211 KDM1A Health Risk Likely pathogenic —
RS2124544212 TP73 Health Risk Pathogenic Ciliary dyskinesia, primary
RS2124562542 SOS1 Health Risk Likely pathogenic Noonan syndrome 4, Noonan syndrome 4
RS2124590812 MT-TF Health Risk Likely pathogenic Hypokalemia, Hypomagnesemia
RS2124593402 ZMPSTE24 Health Risk Likely pathogenic —
RS2124596942 SOS1 Health Risk Likely pathogenic RASopathy, RASopathy
RS2124597984 TRIT1 Health Risk Pathogenic Combined oxidative phosphorylation deficiency 35, Combined oxidative phosphorylation deficiency 35
RS2124612467 ELF4 Health Risk Pathogenic Autoinflammatory syndrome, familial
RS2124614205 ELF4 Health Risk Pathogenic Autoinflammatory syndrome, familial
RS2124614270 ELF4 Health Risk Pathogenic Autoinflammatory syndrome, familial
RS2124633546 LDLRAP1 Health Risk Pathogenic Hypercholesterolemia, familial
RS2124634791 GPC3 Health Risk Pathogenic/Likely pathogenic Simpson-Golabi-Behmel syndrome type 1, Wilms tumor 1
RS2124644144 AIFM1 Health Risk Likely pathogenic Tip-toe gait, Tip-toe gait
RS2124647615 CEP104 Health Risk Pathogenic Intellectual developmental disorder, autosomal recessive 77
RS2124648259 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS2124648266 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS2124648301 IDS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-II
RS2124648304 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS2124648360 AIFM1 Health Risk Likely pathogenic —
RS2124648374 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS2124648387 AIFM1 Health Risk Likely pathogenic Auditory neuropathy, Auditory neuropathy
RS2124655627 GPC3 Health Risk Pathogenic Wilms tumor 1, Wilms tumor 1
RS2124656989 AIFM1 Health Risk Likely pathogenic Charcot-Marie-Tooth disease X-linked recessive 4, Charcot-Marie-Tooth disease X-linked recessive 4
RS2124656997 AIFM1 Health Risk Likely pathogenic Spondyloepimetaphyseal dysplasia, Bieganski type
RS2124663461 LDLRAP1 Health Risk Pathogenic Hypercholesterolemia, familial
RS2124667505 LDLRAP1 Health Risk Likely pathogenic —
RS2124688583 LDLRAP1 Health Risk Pathogenic/Likely pathogenic Hypercholesterolemia, familial
RS2124690250 LDLRAP1 Health Risk Pathogenic Hypercholesterolemia, familial
RS2124740134 ARID1A Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 14
RS2124740433 ARID1A Health Risk Pathogenic —
RS2124740536 ARID1A Health Risk Pathogenic ARID1A-related BAFopathy, Intellectual disability
RS2124740577 ARID1A Health Risk Pathogenic Non-immune hydrops fetalis, Non-immune hydrops fetalis
RS2124742621 ARID1A Health Risk Likely pathogenic Intellectual disability, autosomal dominant 14
RS2124743589 ARID1A Health Risk Likely pathogenic —
RS2124782476 MFSD2A Health Risk Pathogenic Microcephaly 15, primary
RS2124788629 ARID1A Health Risk Pathogenic Intellectual disability, autosomal dominant 14
RS2124789091 ARID1A Health Risk Pathogenic Malignant tumor of urinary bladder, Malignant tumor of urinary bladder
RS2124789497 ARID1A Health Risk Pathogenic Intellectual disability, autosomal dominant 14
RS2124789902 ARID1A Health Risk Pathogenic ARID1A-related BAFopathy, ARID1A-related BAFopathy
RS2124792233 ARID1A Health Risk Pathogenic Malignant tumor of urinary bladder, Malignant tumor of urinary bladder
RS2124792461 ARID1A Health Risk Pathogenic Intellectual disability, autosomal dominant 14
RS2124792810 ARID1A Health Risk Likely pathogenic Intellectual disability, autosomal dominant 14
RS2124822282 SUMF1 Health Risk Pathogenic Multiple sulfatase deficiency, Multiple sulfatase deficiency
RS2124822828 SUMF1 Health Risk Likely pathogenic Multiple sulfatase deficiency, Multiple sulfatase deficiency
RS2124823079 SUMF1 Health Risk Pathogenic Multiple sulfatase deficiency, Multiple sulfatase deficiency
RS2124823466 SUMF1 Health Risk Pathogenic Multiple sulfatase deficiency, Multiple sulfatase deficiency
RS2124844270 ATP2B2 Health Risk Pathogenic Hearing loss, autosomal dominant 82
RS2124849065 IDH1 Health Risk Likely pathogenic Paroxysmal extreme pain disorder, Paroxysmal extreme pain disorder
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