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
RS770566897 KIAA0586 Health Risk Pathogenic Joubert syndrome 23, Congenital cerebellar hypoplasia
RS770567326 PRMT7 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS770568108 WNK1 Health Risk Conflicting classifications of pathogenicity Pseudohypoaldosteronism type 2C, Neuropathy
RS770568316 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS770568983 COL1A1 Health Risk Conflicting classifications of pathogenicity Infantile cortical hyperostosis, Ehlers-Danlos syndrome
RS770569237 SLC4A1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant distal renal tubular acidosis, Autosomal dominant distal renal tubular acidosis
RS770569947 INTS1 Health Risk Likely pathogenic Neurodevelopmental delay, Neurodevelopmental disorder with cataracts
RS770570364 KLHL7 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinal dystrophy
RS770571299 KIF7 Health Risk Pathogenic KIF7-related disorder, Acrocallosal syndrome
RS770573584 BLM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Bloom syndrome
RS770573978 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS770574770 PMM2 Health Risk Conflicting classifications of pathogenicity PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS770576740 ATP13A2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive spastic paraplegia type 78, Kufor-Rakeb syndrome
RS770577174 BBS4 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinitis pigmentosa
RS770578384 ARFGEF2 Health Risk Conflicting classifications of pathogenicity Periventricular heterotopia with microcephaly, autosomal recessive
RS770578593 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS770579181 OTOF Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
RS770579201 ASPM Health Risk Pathogenic Microcephaly 5, primary
RS770579215 APTX Health Risk Pathogenic —
RS770579313 TTN Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G
RS770579508 BUB1B Health Risk Conflicting classifications of pathogenicity Mosaic variegated aneuploidy syndrome 1, Mosaic variegated aneuploidy syndrome 1
RS770580241 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS770581166 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS77058194 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS770582052 GMPPA Health Risk Pathogenic/Likely pathogenic Alacrima, achalasia
RS770582589 MYH11 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS770583134 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS770585183 ASS1 Health Risk Pathogenic Citrullinemia type I, Citrullinemia
RS770587249 NHLRC1 Health Risk Conflicting classifications of pathogenicity Lafora disease, Inborn genetic diseases
RS770587835 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia type 2A, Multiple endocrine neoplasia
RS770588422 SHANK1 Health Risk Likely pathogenic SHANK1-related autism, SHANK1-related autism
RS770588592 SLC5A2 Health Risk Conflicting classifications of pathogenicity Familial renal glucosuria, Familial renal glucosuria
RS770589013 ZDHHC9 Health Risk Conflicting classifications of pathogenicity Syndromic X-linked intellectual disability Raymond type, Inborn genetic diseases
RS770589758 ABCA3 Health Risk Likely pathogenic —
RS770590297 IFT122 Health Risk Pathogenic/Likely pathogenic Cranioectodermal dysplasia 1, Cranioectodermal dysplasia 1
RS770590394 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS770590945 DGKZ Health Risk Pathogenic atypical cerebral palsy, atypical cerebral palsy
RS770591350 PRKN Health Risk Pathogenic —
RS770591449 PIGO Health Risk Pathogenic/Likely pathogenic Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2
RS770592505 BLM Health Risk Pathogenic/Likely pathogenic Bloom syndrome, Bloom syndrome
RS770592607 PCSK9 Health Risk Conflicting classifications of pathogenicity Familial hypercholesterolemia, Hypercholesterolemia
RS770593140 CYP11B2 Health Risk Pathogenic/Likely pathogenic Corticosterone 18-monooxygenase deficiency, Corticosterone methyloxidase type 2 deficiency
RS770593694 PLEKHG5 Health Risk Pathogenic/Likely pathogenic Neuronopathy, distal hereditary motor
RS770594592 KRIT1 Health Risk Likely pathogenic —
RS770595233 RINT1 Health Risk Conflicting classifications of pathogenicity —
RS770595600 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS770596449 SGCG Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C
RS770597137 IL17RA Health Risk Conflicting classifications of pathogenicity Immunodeficiency 51, Immunodeficiency 51
RS770597592 FARS2 Health Risk Pathogenic/Likely pathogenic Combined oxidative phosphorylation defect type 14, Combined oxidative phosphorylation defect type 14
RS770597799 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS770598337 EP300 Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS770598613 COL5A2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome
RS770599506 CTNNA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS770601245 MAG Health Risk Pathogenic Hereditary spastic paraplegia 75, Hereditary spastic paraplegia 75
RS770601333 SEC23B Health Risk Conflicting classifications of pathogenicity Congenital dyserythropoietic anemia, type II
RS770601673 RAB27A Health Risk Pathogenic Griscelli syndrome, Griscelli syndrome type 2
RS770603835 SOS2 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 9, Cardiovascular phenotype
RS77060411 NPFFR2 Health Risk Conflicting classifications of pathogenicity —
RS770605375 AHI1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Inborn genetic diseases
RS770605718 TMEM67 Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS770605959 CLCN1 Health Risk Pathogenic/Likely pathogenic Congenital myotonia, autosomal recessive form
RS770606127 TUBGCP6 Health Risk Pathogenic —
RS770606360 POMT2 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS770606675 FLNC Health Risk Pathogenic Cardiovascular phenotype, Hypertrophic cardiomyopathy 26
RS770607110 TREX1 Health Risk Pathogenic/Likely pathogenic See cases, Chilblain lupus 1
RS770608706 LRAT Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS770609334 PKD2 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease 2, Autosomal dominant polycystic kidney disease
RS770610356 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS770610463 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS770611373 PEX26 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B
RS770612890 GJB6 Health Risk Conflicting classifications of pathogenicity Hidrotic ectodermal dysplasia syndrome, Autosomal recessive nonsyndromic hearing loss 1A
RS770613242 BRIP1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Fanconi anemia complementation group J
RS770613391 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS770614061 ECHS1 Health Risk Conflicting classifications of pathogenicity Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency, Inborn genetic diseases
RS770614769 OFD1 Health Risk Conflicting classifications of pathogenicity Orofaciodigital syndrome I, Joubert syndrome 10
RS770615701 COL7A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS770617208 LAMA2 Health Risk Pathogenic Merosin deficient congenital muscular dystrophy, LAMA2-related muscular dystrophy
RS770619613 TMEM43 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 5
RS770620001 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS770622608 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS770622823 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS770623245 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS770624630 ATP6V0A4 Health Risk Conflicting classifications of pathogenicity Renal tubular acidosis, distal
RS770625733 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS770627371 NF2 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 2
RS770627848 ADAMTS17 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani 4 syndrome, recessive
RS770628646 DNAH11 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS770628999 HEXA Health Risk Pathogenic Tay-Sachs disease, Tay-Sachs disease
RS770629363 POLA1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS770629684 DMXL2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS770630028 MYH7 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy
RS770630520 CPLANE1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 17, Inborn genetic diseases
RS770630990 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS770631950 COL18A1 Health Risk Likely pathogenic Knobloch syndrome, Knobloch syndrome 1
RS770632900 NRXN1 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2
RS770633648 NCKAP1L Health Risk Pathogenic/Likely pathogenic Immunodeficiency 72 with autoinflammation, Immunodeficiency 72 with autoinflammation
RS770634248 PIGW Health Risk Conflicting classifications of pathogenicity Hyperphosphatasia with intellectual disability syndrome 5, Hyperphosphatasia with intellectual disability syndrome 5
RS770635415 OCA2 Health Risk Pathogenic SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
RS770636131 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Inborn genetic diseases
RS770636500 ANK2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
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