SNP Directory

400,964 genetic variants in our database.

Clear
All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS782661128 ABCD1 Health Risk Conflicting classifications of pathogenicity Adrenoleukodystrophy, Adrenoleukodystrophy
RS782661286 ABCD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Adrenoleukodystrophy
RS782661984 POLR3GL Health Risk Pathogenic Oligodontia, Abnormal facial shape
RS78266262 CCN6 Health Risk Conflicting classifications of pathogenicity —
RS782662883 RBP3 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Inborn genetic diseases
RS782663655 KDM5C Health Risk Pathogenic Thyroid cancer, nonmedullary
RS782663858 KMT2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS782664014 ATP7A Health Risk Conflicting classifications of pathogenicity Cutis laxa, X-linked
RS782664232 ATP7A Health Risk Conflicting classifications of pathogenicity Cutis laxa, X-linked
RS782664345 POR Health Risk Conflicting classifications of pathogenicity Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
RS782665391 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5B, with muscular dystrophy
RS782665405 MYO7A Health Risk Likely pathogenic —
RS782666539 ATP6V1B1 Health Risk Conflicting classifications of pathogenicity Renal tubular acidosis with progressive nerve deafness, Renal tubular acidosis with progressive nerve deafness
RS782666797 WAS Health Risk Conflicting classifications of pathogenicity X-linked severe congenital neutropenia, Wiskott-Aldrich syndrome
RS78266699 CPT2 Health Risk Conflicting classifications of pathogenicity Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyltransferase II deficiency
RS782667380 PACS2 Health Risk Conflicting classifications of pathogenicity —
RS782667495 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS782667719 PGK1 Health Risk Conflicting classifications of pathogenicity —
RS782667757 TRRAP Health Risk Conflicting classifications of pathogenicity —
RS782668199 F8 Health Risk Conflicting classifications of pathogenicity Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS782669152 FLNA Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II
RS782669579 PLEC Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex 5B
RS782669943 FLNA Health Risk Conflicting classifications of pathogenicity Frontometaphyseal dysplasia, Melnick-Needles syndrome
RS782670288 FLNA Health Risk Conflicting classifications of pathogenicity Frontometaphyseal dysplasia, Oto-palato-digital syndrome
RS782670360 KMT2A Health Risk Conflicting classifications of pathogenicity —
RS782672273 BGN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS782673196 ACER3 Health Risk Pathogenic Alkaline ceramidase 3 deficiency, Alkaline ceramidase 3 deficiency
RS782673539 ABCD1 Health Risk Conflicting classifications of pathogenicity Adrenoleukodystrophy, Adrenoleukodystrophy
RS782674059 G6PD Health Risk Conflicting classifications of pathogenicity Anemia, nonspherocytic hemolytic
RS782674700 ELN Health Risk Likely pathogenic Supravalvar aortic stenosis, Hepatocellular carcinoma
RS782674838 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS782677940 POR Health Risk Pathogenic Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
RS782678351 PLEC Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex with nail dystrophy
RS782679108 TRRAP Health Risk Conflicting classifications of pathogenicity —
RS782679415 PHKA1 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXd, Glycogen storage disease IXd
RS782681085 AVPR2 Health Risk Conflicting classifications of pathogenicity Diabetes insipidus, nephrogenic
RS782681272 POR Health Risk Conflicting classifications of pathogenicity Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
RS782681643 F8 Health Risk Likely pathogenic —
RS782681743 MYO7A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1
RS782682203 HYAL2 Health Risk Pathogenic/Likely pathogenic HYAL2 deficiency, Muggenthaler-Chowdhury-Chioza syndrome
RS782682320 FKBP10 Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta type 11, Bruck syndrome 1
RS782682492 SURF1 Health Risk Pathogenic Leigh syndrome, Ovarian serous cystadenocarcinoma
RS782682493 ATP7A Health Risk Conflicting classifications of pathogenicity Cutis laxa, X-linked
RS782682520 PHKA1 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXd, Glycogen storage disease IXd
RS782683534 KMT2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS782683945 BCAP31 Health Risk Conflicting classifications of pathogenicity —
RS782685668 PACS2 Health Risk Conflicting classifications of pathogenicity —
RS782686270 PACS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS782688724 HUWE1 Health Risk Conflicting classifications of pathogenicity —
RS782689584 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS782689725 GPAA1 Health Risk Likely pathogenic —
RS782690014 ATP6AP1 Health Risk Conflicting classifications of pathogenicity ATP6AP1-related disorder, ATP6AP1-related disorder
RS782690725 KMT2A Health Risk Pathogenic —
RS782690996 GLA Health Risk Conflicting classifications of pathogenicity Fabry disease, Fabry disease
RS782692436 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS782693565 JUP Health Risk Conflicting classifications of pathogenicity Naxos disease, Arrhythmogenic right ventricular dysplasia 12
RS782694195 MYO7A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1
RS782694267 C12orf57 Health Risk Conflicting classifications of pathogenicity Temtamy syndrome, Temtamy syndrome
RS782694533 FLNA Health Risk Conflicting classifications of pathogenicity Melnick-Needles syndrome, Frontometaphyseal dysplasia
RS782694926 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS782695193 LAMA4 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1JJ, Cardiovascular phenotype
RS782695409 OTUD5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS782695425 SLC39A4 Health Risk Pathogenic Hereditary acrodermatitis enteropathica, Hereditary acrodermatitis enteropathica
RS782695653 GATA1 Health Risk Conflicting classifications of pathogenicity Diamond-Blackfan anemia, GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
RS782696006 POR Health Risk Pathogenic Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
RS782696086 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Inborn genetic diseases
RS782696212 MYO7A Health Risk Conflicting classifications of pathogenicity —
RS782696367 CLCN5 Health Risk Conflicting classifications of pathogenicity Dent disease type 1, Inborn genetic diseases
RS782697057 EMD Health Risk Pathogenic X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy
RS782697176 FLNA Health Risk Conflicting classifications of pathogenicity Frontometaphyseal dysplasia, Heterotopia
RS782697291 IQSEC2 Health Risk Conflicting classifications of pathogenicity Abnormal brain morphology, Intellectual disability
RS782697310 POR Health Risk Pathogenic Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
RS782697778 DKC1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, Thyroid cancer
RS782697859 IDS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-II
RS782697907 BTK Health Risk Conflicting classifications of pathogenicity X-linked agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency
RS782698277 FLNA Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II
RS782698349 GATA1 Health Risk Conflicting classifications of pathogenicity GATA binding protein 1 related thrombocytopenia with dyserythropoiesis, Diamond-Blackfan anemia
RS782699765 JUP Health Risk Conflicting classifications of pathogenicity Naxos disease, Arrhythmogenic right ventricular dysplasia 12
RS782700068 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex with nail dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2Q
RS782700768 POR Health Risk Pathogenic Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
RS782701010 PACS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS782701313 PLEC Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex with nail dystrophy
RS782701925 ABCD1 Health Risk Conflicting classifications of pathogenicity Adrenoleukodystrophy, Inborn genetic diseases
RS782702163 CPA1 Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Hereditary pancreatitis
RS782702231 BTK Health Risk Conflicting classifications of pathogenicity X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia
RS782702266 JUP Health Risk Conflicting classifications of pathogenicity Naxos disease, Arrhythmogenic right ventricular dysplasia 12
RS782702303 KMT2A Health Risk Conflicting classifications of pathogenicity KMT2A-related disorder, Inborn genetic diseases
RS782702439 PHKA1 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXd, Glycogen storage disease IXd
RS782702847 ATP7A Health Risk Conflicting classifications of pathogenicity X-linked distal spinal muscular atrophy type 3, Menkes kinky-hair syndrome
RS782703008 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, ATRX-related disorder
RS782703026 POLG2 Health Risk Conflicting classifications of pathogenicity POLG2-related disorder, POLG2-related disorder
RS782703789 CCN6 Health Risk Conflicting classifications of pathogenicity Progressive pseudorheumatoid dysplasia, CCN6-related disorder
RS782704213 JUP Health Risk Conflicting classifications of pathogenicity Naxos disease, Arrhythmogenic right ventricular dysplasia 12
RS782704553 DLAT Health Risk Pathogenic/Likely pathogenic Pyruvate dehydrogenase E2 deficiency, Pyruvate dehydrogenase E2 deficiency
RS782705007 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome
RS782705203 PACS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS782705469 KMT2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS782707236 SV2A Health Risk Likely pathogenic See cases, Developmental and epileptic encephalopathy 113
RS782707495 KMT2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, KMT2A-related disorder
RS782707801 ELN Health Risk Pathogenic Supravalvar aortic stenosis, Supravalvar aortic stenosis
« Prev 1 ... 3727 3728 3729 3730 3731 3732 3733 ... 4010 Next »

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

Get Started Free →