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
RS1599189718 SMAD4 Health Risk Conflicting classifications of pathogenicity Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome
RS1599193093 CLPP Health Risk Likely pathogenic Perrault syndrome 3, Perrault syndrome 3
RS1599195400 SMAD4 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Hereditary cancer-predisposing syndrome
RS1599195433 SMAD4 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1599195489 SMAD4 Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS1599196891 SMAD4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS1599196995 SMAD4 Health Risk Pathogenic Juvenile polyposis syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1599197105 SMAD4 Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS1599204042 SMAD4 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Hereditary cancer-predisposing syndrome
RS1599204121 SMAD4 Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS1599204140 SMAD4 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Hereditary cancer-predisposing syndrome
RS1599205483 SMAD4 Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS1599210325 PTBP1 Health Risk Pathogenic PTBP1-related neurodevelopmental disorder with skeletal dysplasia, STAD SYNDROME
RS1599230814 TRIM37 Health Risk Likely pathogenic Mulibrey nanism syndrome, Mulibrey nanism syndrome
RS1599253207 MCOLN1 Health Risk Likely pathogenic —
RS1599253805 NAGLU Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-B
RS1599253815 NAGLU Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-B
RS1599254152 MCOLN1 Health Risk Pathogenic/Likely pathogenic Mucolipidosis type IV, Mucolipidosis type IV
RS1599255682 MCOLN1 Health Risk Likely pathogenic Mucolipidosis type IV, Mucolipidosis type IV
RS1599255987 NAGLU Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-B
RS1599258487 NAGLU Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-B
RS1599260473 NAGLU Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-B
RS1599276830 CACNA1A Health Risk Pathogenic Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS1599276914 CACNA1A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 42
RS1599276954 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS1599289383 CACNA1A Health Risk Pathogenic Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS1599290793 ELANE Health Risk Likely pathogenic ELANE-related disorder, ELANE-related disorder
RS1599292506 CACNA1A Health Risk Conflicting classifications of pathogenicity Migraine, familial hemiplegic
RS1599292631 CACNA1A Health Risk Pathogenic/Likely pathogenic Episodic ataxia type 2, Episodic ataxia type 2
RS1599294284 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS1599294750 ELANE Health Risk Pathogenic Cyclical neutropenia, Neutropenia
RS1599305317 PNPLA6 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 39, Hereditary spastic paraplegia 39
RS1599307313 MAP2K2 Health Risk Likely pathogenic Cardio-facio-cutaneous syndrome, Cardio-facio-cutaneous syndrome
RS1599328119 TYK2 Health Risk Likely pathogenic —
RS1599335132 GALK1 Health Risk Likely pathogenic Deficiency of galactokinase, Deficiency of galactokinase
RS1599335144 GALK1 Health Risk Pathogenic Deficiency of galactokinase, Deficiency of galactokinase
RS1599336146 GALK1 Health Risk Likely pathogenic Deficiency of galactokinase, Deficiency of galactokinase
RS1599337939 MAN2B1 Health Risk Pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS1599338484 MAN2B1 Health Risk Pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS1599341718 DNMT1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant cerebellar ataxia, deafness and narcolepsy
RS1599344532 MAN2B1 Health Risk Pathogenic/Likely pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS1599346495 DNMT1 Health Risk Conflicting classifications of pathogenicity Hereditary sensory neuropathy-deafness-dementia syndrome, Hereditary sensory neuropathy-deafness-dementia syndrome
RS1599349822 MAN2B1 Health Risk Pathogenic/Likely pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS1599350640 MAN2B1 Health Risk Pathogenic/Likely pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS1599352199 MAN2B1 Health Risk Likely pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS1599359239 NOTCH3 Health Risk Pathogenic Lateral meningocele syndrome, Lateral meningocele syndrome
RS1599359388 NOTCH3 Health Risk Pathogenic —
RS1599364162 ASXL3 Health Risk Likely pathogenic —
RS1599366076 DNMT1 Health Risk Conflicting classifications of pathogenicity Hereditary sensory neuropathy-deafness-dementia syndrome, Charcot-Marie-Tooth disease
RS1599366421 DNMT1 Health Risk Likely pathogenic Hereditary sensory neuropathy-deafness-dementia syndrome, Hereditary sensory neuropathy-deafness-dementia syndrome
RS1599366542 DNMT1 Health Risk Conflicting classifications of pathogenicity Hereditary sensory neuropathy-deafness-dementia syndrome, Inborn genetic diseases
RS1599367044 SETBP1 Health Risk Likely pathogenic Lymphoma, Lymphoma
RS1599367236 SETBP1 Health Risk Pathogenic —
RS1599367726 SETBP1 Health Risk Pathogenic/Likely pathogenic —
RS1599368029 SETBP1 Health Risk Pathogenic —
RS1599368323 SETBP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 29
RS1599368734 SETBP1 Health Risk Pathogenic Abnormality of the nervous system, Abnormality of the nervous system
RS1599375711 TCF4 Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS1599377405 TCF4 Health Risk Likely pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS1599382214 NOTCH3 Health Risk Pathogenic/Likely pathogenic Cerebral arteriopathy, autosomal dominant
RS1599387121 NOTCH3 Health Risk Likely pathogenic Progressive psychomotor deterioration, Progressive psychomotor deterioration
RS1599389041 STXBP2 Health Risk Pathogenic/Likely pathogenic Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
RS1599389393 NOTCH3 Health Risk Conflicting classifications of pathogenicity Cerebral arteriopathy, autosomal dominant
RS1599391536 NOTCH3 Health Risk Pathogenic/Likely pathogenic Cerebral arteriopathy, autosomal dominant
RS1599391938 NOTCH3 Health Risk Likely pathogenic Abnormal cerebral white matter morphology, Migraine with aura
RS1599391986 NOTCH3 Health Risk Pathogenic Migraine with aura, Depression
RS1599394351 NOTCH3 Health Risk Conflicting classifications of pathogenicity Cerebral arteriopathy, autosomal dominant
RS1599394654 NOTCH3 Health Risk Likely pathogenic NOTCH3-related disorder, NOTCH3-related disorder
RS1599394806 NOTCH3 Health Risk Pathogenic Cerebral arteriopathy, autosomal dominant
RS1599395085 STXBP2 Health Risk Pathogenic HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL
RS1599395616 NOTCH3 Health Risk Conflicting classifications of pathogenicity Myofibromatosis, infantile
RS1599397070 STXBP2 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis
RS1599398298 STXBP2 Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
RS1599405952 TUBB4A Health Risk Likely pathogenic Hypomyelinating leukodystrophy 6, Hypomyelinating leukodystrophy 6
RS1599413207 TCF3 Health Risk Likely pathogenic Multiple myeloma, Multiple myeloma
RS1599414759 UNC13D Health Risk Likely pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS1599426021 EPG5 Health Risk Likely pathogenic EPG5-related disorder, EPG5-related disorder
RS1599439595 LONP1 Health Risk Likely pathogenic CODAS syndrome, CODAS syndrome
RS1599445663 EPG5 Health Risk Pathogenic Vici syndrome, Vici syndrome
RS1599447883 EPG5 Health Risk Pathogenic Vici syndrome, Vici syndrome
RS1599473950 BRD4 Health Risk Likely pathogenic Short stature, Short stature
RS1599474108 EPG5 Health Risk Pathogenic Vici syndrome, Vici syndrome
RS1599475959 LONP1 Health Risk Pathogenic —
RS1599518940 C3 Health Risk Likely pathogenic Complement component 3 deficiency, Complement component 3 deficiency
RS1599520660 PIGN Health Risk Likely pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS1599525360 PIGN Health Risk Likely pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS1599531710 PIGN Health Risk Pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS1599534276 C19orf12 Health Risk Pathogenic Neurodegeneration with brain iron accumulation 4, Neurodegeneration with brain iron accumulation 4
RS1599534394 C19orf12 Health Risk Pathogenic Neurodegeneration with brain iron accumulation 4, Neurodegeneration with brain iron accumulation 4
RS1599536432 EPG5 Health Risk Likely pathogenic Vici syndrome, Vici syndrome
RS1599554145 PIGN Health Risk Pathogenic —
RS1599555124 IL12RB1 Health Risk Pathogenic Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
RS1599560256 GTPBP3 Health Risk Pathogenic/Likely pathogenic Combined oxidative phosphorylation defect type 23, Combined oxidative phosphorylation defect type 23
RS1599562180 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
RS1599563269 ASXL3 Health Risk 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
RS1599563619 ASXL3 Health Risk Pathogenic —
RS1599563995 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
RS1599564118 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
RS1599565958 ASXL3 Health Risk Pathogenic Intellectual disability, Intellectual disability
RS1599566942 ASXL3 Health Risk 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
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