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
RS1560568801 SGCB Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E
RS1560570541 PPP3CA Health Risk Pathogenic Developmental and epileptic encephalopathy 91, Developmental and epileptic encephalopathy 91
RS1560570546 PPP3CA Health Risk Likely pathogenic —
RS1560588098 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1560590094 PITX2 Health Risk Pathogenic Axenfeld-Rieger syndrome type 1, Axenfeld-Rieger syndrome type 1
RS1560592253 PKD2 Health Risk Pathogenic Autosomal dominant polycystic kidney disease, Autosomal dominant polycystic kidney disease
RS1560597869 PKD2 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS1560597874 PKD2 Health Risk Pathogenic —
RS1560598042 PKD2 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS1560602156 ZEB2 Health Risk Pathogenic —
RS1560602214 ZEB2 Health Risk Likely pathogenic —
RS1560602800 NSD2 Health Risk Pathogenic Wolf-Hirschhorn like syndrome, 4p partial monosomy syndrome
RS1560604726 FRAS1 Health Risk Pathogenic Fraser syndrome 1, Fraser syndrome 1
RS1560604977 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS1560605892 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS1560605894 ZEB2 Health Risk Conflicting classifications of pathogenicity ZEB2-related disorder, ZEB2-related disorder
RS1560606294 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS1560606974 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS1560607925 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS1560608538 PKD2 Health Risk Likely pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS1560608729 PKD2 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS1560609721 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS1560609810 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS1560614154 MTTP Health Risk Pathogenic Abetalipoproteinaemia, Abetalipoproteinaemia
RS1560614646 MTTP Health Risk Pathogenic/Likely pathogenic Abetalipoproteinaemia, Abetalipoproteinaemia
RS1560616550 CNGA1 Health Risk Pathogenic/Likely pathogenic —
RS1560617356 PKD2 Health Risk Likely pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS1560618505 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS1560619891 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS1560620277 PKD2 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS1560620837 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS1560621444 MTTP Health Risk Pathogenic Abetalipoproteinaemia, Abetalipoproteinaemia
RS1560621750 PKD2 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS1560621807 CNGA1 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1560625450 FRAS1 Health Risk Pathogenic —
RS1560625478 FRAS1 Health Risk Pathogenic/Likely pathogenic Fraser syndrome 1, Fraser syndrome 1
RS1560626499 PKD2 Health Risk Pathogenic/Likely pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS1560626561 PKD2 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS1560627357 MTTP Health Risk Pathogenic —
RS1560628245 PKD2 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS1560632930 PKD2 Health Risk Pathogenic Polycystic kidney disease, Polycystic kidney disease 2
RS1560635105 NSD2 Health Risk Pathogenic Wolf-Hirschhorn like syndrome, 4p partial monosomy syndrome
RS1560636155 BBS7 Health Risk Likely pathogenic —
RS1560638613 BBS7 Health Risk Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS1560647130 BBS7 Health Risk Pathogenic —
RS1560658189 BBS7 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS1560664459 BBS7 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Bardet-Biedl syndrome
RS1560667008 AFG2A Health Risk Pathogenic Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
RS1560667389 SGMS2 Health Risk Pathogenic/Likely pathogenic Calvarial doughnut lesions-bone fragility syndrome, Inborn genetic diseases
RS1560667512 SGMS2 Health Risk Pathogenic Calvarial doughnut lesions with bone fragility and spondylometaphyseal dysplasia, Calvarial doughnut lesions with bone fragility and spondylometaphyseal dysplasia
RS1560667521 SGMS2 Health Risk Pathogenic Calvarial doughnut lesions with bone fragility and spondylometaphyseal dysplasia, Calvarial doughnut lesions with bone fragility and spondylometaphyseal dysplasia
RS1560669563 LIAS Health Risk Likely pathogenic —
RS1560671891 BMPR1B Health Risk Pathogenic Type A2 brachydactyly, Acromesomelic dysplasia 3
RS1560674852 LIAS Health Risk Conflicting classifications of pathogenicity Lipoic acid synthetase deficiency, Lipoic acid synthetase deficiency
RS1560679469 NFKB1 Health Risk Pathogenic Immunodeficiency, common variable
RS1560681144 FRAS1 Health Risk Pathogenic —
RS1560689563 TTN Health Risk Likely pathogenic Myopathy, myofibrillar
RS1560690591 GRXCR1 Health Risk Pathogenic/Likely pathogenic Deafness, Hearing loss
RS1560692247 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1560696317 NSD2 Health Risk Pathogenic Wolf-Hirschhorn like syndrome, 4p partial monosomy syndrome
RS1560697035 PLK4 Health Risk Pathogenic —
RS1560701036 CYP2U1 Health Risk Pathogenic —
RS1560701200 CYP2U1;CYP2U1-AS1 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 56, Hereditary spastic paraplegia 56
RS1560706306 NFKB1 Health Risk Likely pathogenic —
RS1560706958 BBS12 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 12
RS1560707540 BBS12 Health Risk Likely pathogenic Bardet-Biedl syndrome 12, Bardet-Biedl syndrome 12
RS1560707962 BBS12 Health Risk Likely pathogenic Bardet-Biedl syndrome 12, Bardet-Biedl syndrome 12
RS1560708847 BBS12 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Bardet-Biedl syndrome
RS1560710220 FRAS1 Health Risk Pathogenic —
RS1560711146 NFKB1 Health Risk Likely pathogenic Immunodeficiency, common variable
RS1560735659 NR3C2 Health Risk Pathogenic Autosomal dominant pseudohypoaldosteronism type 1, Autosomal dominant pseudohypoaldosteronism type 1
RS1560739587 CLGN Health Risk Likely pathogenic Short stature, Short stature
RS1560747815 MFSD8 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1560752842 MANBA Health Risk Pathogenic Beta-D-mannosidosis, Beta-D-mannosidosis
RS1560755661 TBCK Health Risk Pathogenic Hypotonia, infantile
RS1560763939 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1560776422 MFSD8 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS1560782372 SLC10A7 Health Risk Pathogenic Short stature, amelogenesis imperfecta
RS1560786479 AFG2A Health Risk Pathogenic —
RS1560786548 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1560795828 MMAA Health Risk Pathogenic Methylmalonic aciduria, cblA type
RS1560797350 MMAA Health Risk Likely pathogenic Methylmalonic aciduria, cblA type
RS1560802980 MMAA Health Risk Likely pathogenic Methylmalonic aciduria, cblA type
RS1560814874 SMARCA5 Health Risk Likely pathogenic Short stature, Short stature
RS1560833290 FGG Health Risk Likely pathogenic —
RS1560841701 SLC25A4 Health Risk Likely pathogenic Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant
RS1560848309 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1560870755 LRAT Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis 14, RETINITIS PIGMENTOSA
RS1560871145 LRAT Health Risk Pathogenic —
RS1560880125 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1560880946 TBCK Health Risk Pathogenic —
RS1560894236 AFG2A Health Risk Likely pathogenic Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
RS1560902834 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1560910156 NR3C2 Health Risk Pathogenic Autosomal dominant pseudohypoaldosteronism type 1, Autosomal dominant pseudohypoaldosteronism type 1
RS1560911619 TBCK Health Risk Pathogenic/Likely pathogenic Hypotonia, infantile
RS1560914625 LRBA Health Risk Pathogenic Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS1560918374 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1560923303 LARP7 Health Risk Pathogenic/Likely pathogenic Microcephalic primordial dwarfism, Alazami type
RS1560926034 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1560928649 NR3C2 Health Risk Likely pathogenic Autosomal dominant pseudohypoaldosteronism type 1, Autosomal dominant pseudohypoaldosteronism type 1
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