SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS886041454 DES Health Risk Likely pathogenic —
RS886041455 CHEK2 Health Risk Likely pathogenic —
RS886041456 TSC1 Health Risk Pathogenic —
RS886041457 PRKAR1A Health Risk Pathogenic —
RS886041458 PEX12 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder 3A (Zellweger)
RS886041459 TUBB3 Health Risk Pathogenic/Likely pathogenic Complex cortical dysplasia with other brain malformations 1, Complex cortical dysplasia with other brain malformations 1
RS886041460 RTTN Health Risk Pathogenic —
RS886041461 RBM10 Health Risk Pathogenic —
RS886041462 KIF11 Health Risk Pathogenic —
RS886041463 ARID1B Health Risk Pathogenic —
RS886041464 BBS4 Health Risk Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 4
RS886041465 BLTP1 Health Risk Pathogenic —
RS886041466 NKX2-1 Health Risk Pathogenic —
RS886041467 SHANK3 Health Risk Pathogenic —
RS886041468 CREBBP Health Risk Pathogenic —
RS886041469 SETBP1 Health Risk Pathogenic SETBP1-related disorder, Intellectual disability
RS886041470 ARID1B Health Risk Pathogenic —
RS886041473 BTK Health Risk Pathogenic —
RS886041476 PYGM Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type V
RS886041477 KIF11 Health Risk Pathogenic —
RS886041478 FLCN Health Risk Pathogenic —
RS886041479 CACNA1F Health Risk Pathogenic —
RS886041480 KAT6A Health Risk Pathogenic —
RS886041481 IQSEC2 Health Risk Pathogenic Severe intellectual deficiency, Intellectual disability
RS886041482 FBN1 Health Risk Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS886041483 NARS2 Health Risk Pathogenic —
RS886041484 IRF6 Health Risk Pathogenic —
RS886041486 ANKRD11 Health Risk Pathogenic —
RS886041487 TPP1 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis 2
RS886041488 GTPBP3 Health Risk Pathogenic —
RS886041489 ZEB2 Health Risk Pathogenic —
RS886041490 CHRNB1 Health Risk Pathogenic —
RS886041491 AGK Health Risk Pathogenic/Likely pathogenic Sengers syndrome, Cataract 38
RS886041492 RASA1 Health Risk Pathogenic —
RS886041493 ARID1B Health Risk Pathogenic —
RS886041494 CTNND2 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder, Neurodevelopmental disorder
RS886041495 PTPN11 Health Risk Pathogenic —
RS886041496 PHEX Health Risk Pathogenic —
RS886041497 FOXC2 Health Risk Pathogenic —
RS886041498 ADNP Health Risk Pathogenic ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS886041499 KMT2D Health Risk Pathogenic —
RS886041500 CBL Health Risk Likely pathogenic Noonan syndrome and Noonan-related syndrome, Noonan syndrome and Noonan-related syndrome
RS886041501 SCN1A Health Risk Pathogenic —
RS886041502 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Usher syndrome type 2A
RS886041503 MED13L Health Risk Pathogenic —
RS886041504 RAD21 Health Risk Pathogenic —
RS886041505 CACNA1G Health Risk Pathogenic Inborn genetic diseases, Spinocerebellar ataxia 42
RS886041506 TCOF1 Health Risk Pathogenic Treacher Collins syndrome 1, Treacher Collins syndrome 1
RS886041507 FRMD7 Health Risk Pathogenic —
RS886041508 SPINK5 Health Risk Pathogenic —
RS886041509 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS886041511 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS886041512 NSD1 Health Risk Pathogenic —
RS886041513 NOTCH3 Health Risk Conflicting classifications of pathogenicity —
RS886041514 PIGN Health Risk Likely pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS886041515 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS886041516 SATB2 Health Risk Pathogenic Chromosome 2q32-q33 deletion syndrome, Chromosome 2q32-q33 deletion syndrome
RS886041517 PTPN11 Health Risk Conflicting classifications of pathogenicity RASopathy, RASopathy
RS886041518 CREBBP Health Risk Pathogenic/Likely pathogenic Rare genetic intellectual disability, Rubinstein-Taybi syndrome due to CREBBP mutations
RS886041519 OBSL1 Health Risk Pathogenic —
RS886041520 EP300 Health Risk Pathogenic —
RS886041521 ANKRD11 Health Risk Pathogenic KBG syndrome, Intellectual disability
RS886041522 SETX Health Risk Pathogenic —
RS886041523 ODAD2 Health Risk Pathogenic Primary ciliary dyskinesia 23, Primary ciliary dyskinesia 23
RS886041524 TSC1 Health Risk Pathogenic —
RS886041525 CYP7B1 Health Risk Pathogenic —
RS886041526 OTC Health Risk Pathogenic —
RS886041527 DMD Health Risk Pathogenic —
RS886041528 RPL11 Health Risk Pathogenic —
RS886041529 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS886041530 PRKAR1A Health Risk Pathogenic —
RS886041531 KIF7 Health Risk Pathogenic Acrocallosal syndrome, Acrocallosal syndrome
RS886041532 SF3B4 Health Risk Pathogenic —
RS886041533 MCOLN1 Health Risk Pathogenic Mucolipidosis type IV, Mucolipidosis type IV
RS886041534 ALG11 Health Risk Pathogenic —
RS886041535 DOCK8 Health Risk Pathogenic —
RS886041536 FBN1 Health Risk Pathogenic/Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS886041537 CASR Health Risk Pathogenic —
RS886041538 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS886041539 ANKRD11 Health Risk Pathogenic —
RS886041540 KAT6B Health Risk Pathogenic —
RS886041541 CACNA1A Health Risk Pathogenic —
RS886041542 LZTR1 Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS886041544 LPIN1 Health Risk Pathogenic Myoglobinuria, acute recurrent
RS886041545 LIFR Health Risk Pathogenic/Likely pathogenic Stüve-Wiedemann syndrome 1, Stüve-Wiedemann syndrome 1
RS886041546 CLN3 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis 3
RS886041547 CHD2 Health Risk Pathogenic —
RS886041548 ENG Health Risk Pathogenic —
RS886041549 COQ4 Health Risk Pathogenic Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome, Spastic ataxia 10
RS886041550 NSD1 Health Risk Pathogenic —
RS886041552 COL1A1 Health Risk Pathogenic —
RS886041553 CTNNB1 Health Risk Pathogenic Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome
RS886041554 ABCA4 Health Risk Pathogenic ABCA4-related retinopathy, ABCA4-related retinopathy
RS886041555 COL17A1 Health Risk Pathogenic Epidermolysis bullosa, junctional 4
RS886041556 KMT2D Health Risk Pathogenic —
RS886041557 KRIT1 Health Risk Pathogenic —
RS886041558 KMT2D Health Risk Pathogenic —
RS886041559 BTD Health Risk Pathogenic Biotinidase deficiency, Biotinidase deficiency
RS886041560 SIX3 Health Risk Pathogenic —
RS886041561 ZNF423 Health Risk Pathogenic —
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