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
RS121908199 TPP1 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis 2
RS121908200 TPP1 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 2, Inborn genetic diseases
RS121908201 TPP1 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis 2
RS121908202 TPP1 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis
RS121908203 TPP1 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis 2, Autosomal recessive spinocerebellar ataxia 7
RS121908204 TPP1 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis
RS121908205 TPP1 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis 2
RS121908207 TPP1 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 2
RS121908208 TPP1 Health Risk Likely pathogenic —
RS121908209 TPP1 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis
RS121908211 CACNA1A Health Risk Pathogenic/Likely pathogenic Migraine, familial hemiplegic
RS121908212 CACNA1A Health Risk Pathogenic Migraine, familial hemiplegic
RS121908213 CACNA1A Health Risk Pathogenic Migraine, familial hemiplegic
RS121908214 CACNA1A Health Risk Likely pathogenic Migraine, familial hemiplegic
RS121908215 CACNA1A Health Risk Pathogenic/Likely pathogenic Spinocerebellar ataxia type 6, Episodic ataxia type 2
RS121908216 CACNA1A Health Risk Pathogenic/Likely pathogenic Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS121908217 CACNA1A Health Risk Pathogenic Migraine, familial hemiplegic
RS121908218 CACNA1A Health Risk Pathogenic Migraine, familial hemiplegic
RS121908219 CACNA1A Health Risk Pathogenic/Likely pathogenic Migraine, familial hemiplegic
RS121908220 CACNA1A Health Risk Pathogenic/Likely pathogenic Migraine, familial hemiplegic
RS121908222 CACNA1A Health Risk Pathogenic Migraine, familial hemiplegic
RS121908224 CACNA1A Health Risk Pathogenic Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS121908225 CACNA1A Health Risk Likely pathogenic Migraine, familial hemiplegic
RS121908226 CACNA1A Health Risk Pathogenic Episodic ataxia type 2, Episodic ataxia type 2
RS121908227 CACNA1A Health Risk Pathogenic Episodic ataxia type 2, Episodic ataxia type 2
RS121908228 CACNA1A Health Risk Likely pathogenic Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS121908230 CACNA1A Health Risk Likely pathogenic Migraine, familial hemiplegic
RS121908233 CACNA1A Health Risk Likely pathogenic Episodic ataxia type 2, Episodic ataxia type 2
RS121908235 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS121908236 CACNA1A Health Risk Pathogenic Episodic ataxia type 2, Episodic ataxia type 2
RS121908237 CACNA1A Health Risk Likely pathogenic Migraine, familial hemiplegic
RS121908240 CACNA1A Health Risk Pathogenic Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS121908242 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS121908243 CACNA1A Health Risk Likely pathogenic Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS121908247 CACNA1A Health Risk Pathogenic/Likely pathogenic Spinocerebellar ataxia type 6, Chronic and progressive ataxia
RS121908248 ENPP1 Health Risk Pathogenic Arterial calcification, generalized
RS121908249 ENPP1 Health Risk Pathogenic Hypophosphatemic rickets, autosomal recessive
RS121908250 CCBE1 Health Risk Pathogenic Hennekam lymphangiectasia-lymphedema syndrome 1, Hennekam lymphangiectasia-lymphedema syndrome 1
RS121908251 CCBE1 Health Risk Pathogenic Hennekam lymphangiectasia-lymphedema syndrome 1, Hennekam lymphangiectasia-lymphedema syndrome 1
RS121908252 CCBE1 Health Risk Pathogenic Hennekam lymphangiectasia-lymphedema syndrome 1, Hennekam lymphangiectasia-lymphedema syndrome 1
RS121908253 CCBE1 Health Risk Conflicting classifications of pathogenicity Hennekam lymphangiectasia-lymphedema syndrome 1, CCBE1-related disorder
RS121908254 CCBE1 Health Risk Pathogenic Hennekam lymphangiectasia-lymphedema syndrome 1, Hennekam lymphangiectasia-lymphedema syndrome 1
RS121908255 CBX2 Health Risk Pathogenic 46, XY sex reversal 5
RS121908256 CBX2 Health Risk Pathogenic 46, XY sex reversal 5
RS121908257 CHST14 Health Risk Likely pathogenic Ehlers-Danlos syndrome, musculocontractural type
RS121908258 CHST14 Health Risk Pathogenic/Likely pathogenic Ehlers-Danlos syndrome, musculocontractural type
RS121908259 INS Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 10, INS-related disorder
RS121908260 INS Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 10, Diabetes mellitus
RS121908261 INS Health Risk Pathogenic/Likely pathogenic/Likely risk allele Type 1 diabetes mellitus 2, Diabetes mellitus type 1
RS121908273 INS Health Risk Likely risk allele Diabetes mellitus, permanent neonatal 4
RS121908276 INS Health Risk Likely risk allele Permanent neonatal diabetes mellitus, Diabetes mellitus
RS121908277 INS Health Risk Conflicting classifications of pathogenicity Permanent neonatal diabetes mellitus, Diabetes mellitus
RS121908278 INS Health Risk Likely risk allele Maturity-onset diabetes of the young type 10, Maturity-onset diabetes of the young type 10
RS121908281 RAX2 Health Risk Pathogenic Cone-rod dystrophy 11, Cone-rod dystrophy 11
RS121908282 HGSNAT Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-C
RS121908283 HGSNAT Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-C
RS121908284 HGSNAT Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-C
RS121908285 HGSNAT Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-C
RS121908286 HGSNAT Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-C
RS121908287 FIG4 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 4J, Amyotrophic lateral sclerosis type 11
RS121908288 FIG4 Health Risk Pathogenic/Likely pathogenic Amyotrophic lateral sclerosis type 11, Charcot-Marie-Tooth disease type 4J
RS121908290 FIG4 Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 11, Amyotrophic lateral sclerosis
RS121908291 PALLD Health Risk Conflicting classifications of pathogenicity Pancreatic cancer, susceptibility to
RS121908292 CLN5 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis
RS121908293 ALG8 Health Risk Pathogenic ALG8 congenital disorder of glycosylation, Polycystic liver disease 3 with or without kidney cysts
RS121908294 ALG8 Health Risk Likely pathogenic ALG8 congenital disorder of glycosylation, Polycystic liver disease 3 with or without kidney cysts
RS121908295 GBA1 Health Risk Pathogenic Gaucher disease type II, Lewy body dementia
RS121908297 GBA1 Health Risk Conflicting classifications of pathogenicity Gaucher disease type I, Gaucher disease type I
RS121908298 GBA1 Health Risk Pathogenic Gaucher disease type I, Gaucher disease type I
RS121908299 GBA1 Health Risk Pathogenic Gaucher disease type I, Gaucher disease type I
RS121908301 GBA1 Health Risk Conflicting classifications of pathogenicity Gaucher disease type I, Gaucher disease type I
RS121908302 GBA1 Health Risk Pathogenic Gaucher disease type I, Gaucher disease type I
RS121908303 GBA1 Health Risk Pathogenic Gaucher disease type I, Gaucher disease type I
RS121908304 GBA1 Health Risk Pathogenic Gaucher disease type I, Gaucher disease type I
RS121908305 GBA1 Health Risk Likely pathogenic Gaucher disease type II, Gaucher disease
RS121908306 GBA1 Health Risk Pathogenic Gaucher disease type II, Gaucher disease type II
RS121908307 GBA1 Health Risk Likely pathogenic Gaucher disease type I, Gaucher disease type I
RS121908308 GBA1 Health Risk Pathogenic/Likely pathogenic Gaucher disease type III, Gaucher disease type I
RS121908309 GBA1 Health Risk Pathogenic Gaucher disease perinatal lethal, Gaucher disease
RS121908310 GBA1 Health Risk Pathogenic Gaucher disease perinatal lethal, Gaucher disease perinatal lethal
RS121908311 GBA1 Health Risk Pathogenic/Likely pathogenic Gaucher disease type III, Gaucher disease type I
RS121908312 GBA1 Health Risk Pathogenic/Likely pathogenic Gaucher disease type I, Gaucher disease type III
RS121908313 GBA1 Health Risk Pathogenic Gaucher disease perinatal lethal, Gaucher disease perinatal lethal
RS121908314 GBA1 Health Risk Pathogenic Gaucher disease type I, Gaucher disease type I
RS121908315 PIP5K1C Health Risk Pathogenic Lethal congenital contracture syndrome 3, Lethal congenital contracture syndrome 3
RS121908316 HPS3 Health Risk Pathogenic/Likely pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome
RS121908317 SLURP1 Health Risk Pathogenic Acroerythrokeratoderma, Acroerythrokeratoderma
RS121908318 SLURP1 Health Risk Pathogenic Acroerythrokeratoderma, Acroerythrokeratoderma
RS121908319 SLURP1 Health Risk Pathogenic Acroerythrokeratoderma, Acroerythrokeratoderma
RS121908320 SLURP1 Health Risk Pathogenic Acroerythrokeratoderma, Acroerythrokeratoderma
RS121908321 SLC2A9 Health Risk Conflicting classifications of pathogenicity Hypouricemia, renal
RS121908322 SLC2A9 Health Risk Conflicting classifications of pathogenicity Hypouricemia, renal
RS121908323 SLC2A9 Health Risk Pathogenic Hypouricemia, renal
RS121908324 LDLRAP1 Health Risk Pathogenic Hypercholesterolemia, familial
RS121908325 LDLRAP1 Health Risk Pathogenic Hypercholesterolemia, familial
RS121908326 LDLRAP1 Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS121908327 TMC6 Health Risk Pathogenic Epidermodysplasia verruciformis, susceptibility to
RS121908328 TMC6 Health Risk risk factor Epidermodysplasia verruciformis, susceptibility to
RS121908329 TMC6 Health Risk Pathogenic Epidermodysplasia verruciformis, susceptibility to
RS121908330 TMC8 Health Risk Pathogenic Epidermodysplasia verruciformis, susceptibility to
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