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
RS2466694885 LRPPRC Health Risk Pathogenic —
RS2466695351 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS2466695464 LRPPRC Health Risk Pathogenic —
RS2466695686 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS2466696030 LRPPRC Health Risk Likely pathogenic —
RS2466700282 SFTPB Health Risk Likely pathogenic Surfactant metabolism dysfunction, pulmonary
RS2466706806 SFTPB Health Risk Likely pathogenic —
RS2466713909 WDPCP Health Risk Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2466719809 NLRC4 Health Risk Conflicting classifications of pathogenicity Periodic fever-infantile enterocolitis-autoinflammatory syndrome, Familial cold autoinflammatory syndrome 4
RS2466731626 TTC7A Health Risk Pathogenic Multiple gastrointestinal atresias, Multiple gastrointestinal atresias
RS2466746923 MERTK Health Risk Pathogenic —
RS2466747123 MERTK Health Risk Pathogenic —
RS2466756415 STAMBP Health Risk Likely pathogenic Microcephaly-capillary malformation syndrome, Microcephaly-capillary malformation syndrome
RS2466760157 NLRC4 Health Risk Pathogenic/Likely pathogenic Familial cold autoinflammatory syndrome 4, Periodic fever-infantile enterocolitis-autoinflammatory syndrome
RS2466764015 NLRC4 Health Risk Likely pathogenic Periodic fever-infantile enterocolitis-autoinflammatory syndrome, Periodic fever-infantile enterocolitis-autoinflammatory syndrome
RS2466777309 MERTK Health Risk Pathogenic —
RS2466781016 MERTK Health Risk Pathogenic —
RS2466781317 MERTK Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 38, Retinitis pigmentosa 38
RS2466802788 IL36RN Health Risk Likely pathogenic Generalized pustular psoriasis, Generalized pustular psoriasis
RS2466805738 IL36RN Health Risk Pathogenic Generalized pustular psoriasis, Generalized pustular psoriasis
RS2466813017 NRXN1 Health Risk Pathogenic Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2
RS2466814183 NRXN1 Health Risk Pathogenic Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2
RS2466815026 MERTK Health Risk Pathogenic —
RS2466834908 NRXN1 Health Risk Likely pathogenic Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2
RS2466837412 GPATCH11 Health Risk Pathogenic Early onset and severe retinal dystrophy with neurological impairment and facial dysmorphia, Early onset and severe retinal dystrophy with neurological impairment and facial dysmorphia
RS2466843671 MERTK Health Risk Pathogenic —
RS2466863398 DYSF Health Risk Likely pathogenic Miyoshi muscular dystrophy 1, Miyoshi muscular dystrophy 1
RS2466864021 DYSF Health Risk Likely pathogenic Miyoshi muscular dystrophy 1, Miyoshi muscular dystrophy 1
RS2466868754 NRXN1 Health Risk Pathogenic Autism spectrum disorder, Autism spectrum disorder
RS2466873048 NRXN1 Health Risk Likely pathogenic Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2
RS2466874287 POU3F3 Health Risk Pathogenic Snijders blok-fisher syndrome, Snijders blok-fisher syndrome
RS2466874333 POU3F3 Health Risk Pathogenic Developmental disorder, Developmental disorder
RS2466874387 POU3F3 Health Risk Likely pathogenic —
RS2466874873 POU3F3 Health Risk Likely pathogenic Snijders blok-fisher syndrome, Snijders blok-fisher syndrome
RS2466874909 POU3F3 Health Risk Likely pathogenic —
RS2466875437 POU3F3 Health Risk Pathogenic —
RS2466875541 POU3F3 Health Risk Pathogenic/Likely pathogenic Snijders blok-fisher syndrome, Snijders blok-fisher syndrome
RS2466875711 POU3F3 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2466875718 POU3F3 Health Risk Likely pathogenic Snijders blok-fisher syndrome, Snijders blok-fisher syndrome
RS2466875788 POU3F3 Health Risk Pathogenic —
RS2466876570 POU3F3 Health Risk Likely pathogenic Snijders blok-fisher syndrome, Snijders blok-fisher syndrome
RS2466876690 POU3F3 Health Risk Likely pathogenic Snijders blok-fisher syndrome, Snijders blok-fisher syndrome
RS2466876820 POU3F3 Health Risk Pathogenic Intellectual disability, Intellectual disability
RS2466876822 POU3F3 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2466876835 POU3F3 Health Risk Likely pathogenic —
RS2466876904 POU3F3 Health Risk Likely pathogenic Snijders blok-fisher syndrome, Snijders blok-fisher syndrome
RS2466877069 POU3F3 Health Risk Likely pathogenic Snijders blok-fisher syndrome, Snijders blok-fisher syndrome
RS2466877081 POU3F3 Health Risk Likely pathogenic —
RS2466880893 MERTK Health Risk Pathogenic —
RS2466889355 MERTK Health Risk Pathogenic —
RS2466894996 PTPN4 Health Risk Likely pathogenic —
RS2466896692 HAAO Health Risk Likely pathogenic Vertebral, cardiac
RS2466903175 GPAT2 Health Risk Likely pathogenic Male infertility, Male infertility
RS2466904144 MAP4K4 Health Risk Likely pathogenic —
RS2466916551 IL1RN Health Risk Pathogenic Sterile multifocal osteomyelitis with periostitis and pustulosis, Sterile multifocal osteomyelitis with periostitis and pustulosis
RS2466916722 IL1RN Health Risk Pathogenic Sterile multifocal osteomyelitis with periostitis and pustulosis, Sterile multifocal osteomyelitis with periostitis and pustulosis
RS2466916908 MERTK Health Risk Pathogenic —
RS2466926997 WDPCP Health Risk Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2466928884 MERTK Health Risk Pathogenic —
RS2466930096 PAX8;PAX8-AS1 Health Risk Likely pathogenic Hypothyroidism, congenital
RS2466930630 WDPCP Health Risk Pathogenic Bardet-Biedl syndrome 15, Bardet-Biedl syndrome 15
RS2466941297 DGUOK Health Risk Pathogenic —
RS2466941482 DGUOK Health Risk Pathogenic —
RS2466941660 DGUOK Health Risk Pathogenic —
RS2466941817 DGUOK Health Risk Pathogenic —
RS2466942669 DGUOK Health Risk Likely pathogenic Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
RS2466945415 IL1RN Health Risk Likely pathogenic Sterile multifocal osteomyelitis with periostitis and pustulosis, Sterile multifocal osteomyelitis with periostitis and pustulosis
RS2466962714 NRXN1 Health Risk Pathogenic Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2
RS2466976595 CNGA3 Health Risk Pathogenic —
RS2466976948 CNGA3 Health Risk Pathogenic —
RS2466977700 CNGA3 Health Risk Likely pathogenic —
RS2466995573 CNGA3 Health Risk Likely pathogenic —
RS2466997899 DGUOK Health Risk Pathogenic Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
RS2466998379 DGUOK Health Risk Pathogenic —
RS2466998390 DGUOK Health Risk Pathogenic —
RS2466998699 DGUOK Health Risk Likely pathogenic Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
RS2467005062 KAT6B Health Risk Pathogenic Genitopatellar syndrome, Genitopatellar syndrome
RS2467010443 CNGA3 Health Risk Likely pathogenic —
RS2467010841 CNGA3 Health Risk Likely pathogenic —
RS2467020343 GLI2 Health Risk Pathogenic Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Holoprosencephaly 9
RS2467020770 GLI2 Health Risk Likely pathogenic —
RS2467027252 CNGA3 Health Risk Pathogenic —
RS2467027312 CNGA3 Health Risk Pathogenic/Likely pathogenic —
RS2467027461 CNGA3 Health Risk Pathogenic —
RS2467027887 CNGA3 Health Risk Pathogenic —
RS2467028405 CNGA3 Health Risk Likely pathogenic Cone-rod dystrophy, Cone-rod dystrophy
RS2467028438 CNGA3 Health Risk Pathogenic —
RS2467028835 CNGA3 Health Risk Likely pathogenic —
RS2467029021 CNGA3 Health Risk Pathogenic —
RS2467029025 CNGA3 Health Risk Pathogenic —
RS2467029031 CNGA3 Health Risk Pathogenic Cone-rod dystrophy, Cone-rod dystrophy
RS2467029136 CNGA3 Health Risk Likely pathogenic Achromatopsia 2, Achromatopsia 2
RS2467029198 CNGA3 Health Risk Pathogenic —
RS2467029530 CNGA3 Health Risk Likely pathogenic Achromatopsia 2, Achromatopsia 2
RS2467032625 DGUOK Health Risk Likely pathogenic Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
RS2467045021 ST3GAL5 Health Risk Pathogenic GM3 synthase deficiency, GM3 synthase deficiency
RS2467047424 DYNC2LI1 Health Risk Pathogenic —
RS2467049254 DGUOK Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2467049358 DGUOK Health Risk Pathogenic —
RS2467050151 DGUOK Health Risk Likely pathogenic DGUOK-related disorder, DGUOK-related disorder
« Prev 1 ... 1994 1995 1996 1997 1998 1999 2000 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →