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
RS1563671108 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, CHARGE syndrome
RS1563672487 TMEM67 Health Risk Pathogenic/Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS1563673267 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, CHARGE syndrome
RS1563673490 TMEM67 Health Risk Likely pathogenic Meckel syndrome, type 3
RS1563674316 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1563674576 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1563678770 TTPA Health Risk Likely pathogenic —
RS1563678790 TTPA Health Risk Pathogenic —
RS1563686762 RAD21 Health Risk Pathogenic/Likely pathogenic Cornelia de Lange syndrome 4, Cornelia de Lange syndrome 4
RS1563687901 RAD21 Health Risk Pathogenic Cornelia de Lange syndrome 4, Cornelia de Lange syndrome 4
RS1563688680 RAD21 Health Risk Pathogenic/Likely pathogenic Cornelia de Lange syndrome 4, Cornelia de Lange syndrome 4
RS1563689416 RAD21 Health Risk Pathogenic Cornelia de Lange syndrome 4, Cornelia de Lange syndrome 4
RS1563697094 TMEM70 Health Risk Pathogenic Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
RS1563700090 MNX1 Health Risk Pathogenic Currarino triad, Currarino triad
RS1563700124 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS1563700205 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS1563700419 MNX1 Health Risk Likely pathogenic Currarino triad, Currarino triad
RS1563714392 TRPS1 Health Risk Pathogenic Trichorhinophalangeal dysplasia type I, Trichorhinophalangeal dysplasia type I
RS1563720581 CSPP1 Health Risk Pathogenic Joubert syndrome 21, Joubert syndrome 21
RS1563726973 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS1563754171 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS1563758564 VLDLR Health Risk Likely pathogenic Inborn genetic diseases, Cerebellar ataxia
RS1563764078 VLDLR Health Risk Likely pathogenic Cerebellar ataxia, intellectual disability
RS1563764788 KCNQ3 Health Risk Pathogenic Benign neonatal seizures, Benign neonatal seizures
RS1563765580 RUNX1T1 Health Risk Pathogenic Short stature, Short stature
RS1563767053 KCNQ3 Health Risk Pathogenic Benign neonatal seizures, Benign neonatal seizures
RS1563774686 BNC2 Health Risk Pathogenic Lower Urinary Tract Obstruction, Lower urinary tract obstruction
RS1563793627 ELN Health Risk Likely pathogenic Supravalvar aortic stenosis, Supravalvar aortic stenosis
RS1563795658 KCNV2 Health Risk Pathogenic —
RS1563796333 KCNV2 Health Risk Pathogenic —
RS1563806122 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS1563815206 SPAG1 Health Risk Pathogenic Primary ciliary dyskinesia 28, Primary ciliary dyskinesia 28
RS1563818514 PUF60 Health Risk Pathogenic 8q24.3 microdeletion syndrome, 8q24.3 microdeletion syndrome
RS1563819620 PUF60 Health Risk Pathogenic 8q24.3 microdeletion syndrome, See cases
RS1563823411 PUF60 Health Risk Pathogenic 8q24.3 microdeletion syndrome, 8q24.3 microdeletion syndrome
RS1563825893 PUF60 Health Risk Pathogenic 8q24.3 microdeletion syndrome, 8q24.3 microdeletion syndrome
RS1563826213 ELN Health Risk Pathogenic Supravalvar aortic stenosis, Supravalvar aortic stenosis
RS1563826453 PUF60 Health Risk Pathogenic 8q24.3 microdeletion syndrome, 8q24.3 microdeletion syndrome
RS1563827503 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS1563829725 MCM4 Health Risk Pathogenic Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency, Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
RS1563831738 KMT2C Health Risk Pathogenic Intellectual disability, Intellectual disability
RS1563834980 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS1563836689 ELN Health Risk Pathogenic Supravalvar aortic stenosis, Supravalvar aortic stenosis
RS1563836857 GLDC Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS1563839312 PUF60 Health Risk Pathogenic —
RS1563840864 MPDZ Health Risk Likely pathogenic —
RS1563849699 GLDC Health Risk Likely pathogenic —
RS1563851439 TYRP1 Health Risk Pathogenic —
RS1563851602 TYRP1 Health Risk Likely pathogenic Nonsyndromic Oculocutaneous Albinism, Nonsyndromic Oculocutaneous Albinism
RS1563856255 TYRP1 Health Risk Pathogenic —
RS1563859767 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS1563864784 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS1563867837 CYP11B1 Health Risk Pathogenic Congenital adrenal hyperplasia, Deficiency of steroid 11-beta-monooxygenase
RS1563867899 CYP11B1 Health Risk Pathogenic —
RS1563869264 ARFGEF1 Health Risk Pathogenic Delayed speech and language development, Atypical behavior
RS1563872934 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Inborn genetic diseases
RS1563873580 EXT1 Health Risk Pathogenic Multiple congenital exostosis, EXT1-related disorder
RS1563886845 MPDZ Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1563888589 CDKN2A Health Risk Conflicting classifications of pathogenicity Familial melanoma, Hereditary cancer-predisposing syndrome
RS1563888944 CDKN2A Health Risk Pathogenic/Likely pathogenic Familial melanoma, Melanoma and neural system tumor syndrome
RS1563889584 CDKN2A Health Risk Pathogenic Familial melanoma, Familial melanoma
RS1563889685 CDKN2A Health Risk Pathogenic Familial melanoma, Familial melanoma
RS1563889847 CDKN2A Health Risk Pathogenic Familial melanoma, Familial melanoma
RS1563892453 CDKN2A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial melanoma
RS1563892516 CDKN2A Health Risk Conflicting classifications of pathogenicity Familial melanoma, Hereditary cancer-predisposing syndrome
RS1563892591 CDKN2A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial melanoma
RS1563892715 CDKN2A Health Risk Pathogenic Familial melanoma, Familial melanoma
RS1563892769 CDKN2A Health Risk Conflicting classifications of pathogenicity Familial melanoma, Hereditary cancer-predisposing syndrome
RS1563893014 CDKN2A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1563902635 CDKN2A Health Risk risk factor Melanoma, cutaneous malignant
RS1563902931 CDKN2A Health Risk Conflicting classifications of pathogenicity Familial melanoma, Hereditary cancer-predisposing syndrome
RS1563907676 RMRP Health Risk Pathogenic Anauxetic dysplasia, Anauxetic dysplasia
RS1563907686 RMRP Health Risk Pathogenic Anauxetic dysplasia, Anauxetic dysplasia
RS1563907710 RMRP Health Risk Pathogenic/Likely pathogenic Metaphyseal chondrodysplasia, McKusick type
RS1563907859 RMRP Health Risk Likely pathogenic Anauxetic dysplasia, Metaphyseal chondrodysplasia
RS1563907881 RMRP Health Risk Pathogenic/Likely pathogenic Metaphyseal chondrodysplasia, McKusick type
RS1563907883 RMRP Health Risk Pathogenic/Likely pathogenic Metaphyseal chondrodysplasia, McKusick type
RS1563907946 RMRP Health Risk Pathogenic Metaphyseal chondrodysplasia, McKusick type
RS1563908020 VPS13B Health Risk Pathogenic/Likely pathogenic Cohen syndrome, Colon adenocarcinoma
RS1563908167 RMRP Health Risk Pathogenic Anauxetic dysplasia, Metaphyseal chondrodysplasia
RS1563908191 RMRP Health Risk Pathogenic Anauxetic dysplasia, Anauxetic dysplasia
RS1563908212 RMRP Health Risk Pathogenic Metaphyseal chondrodysplasia, McKusick type
RS1563915664 TJP2 Health Risk Pathogenic —
RS1563919973 UBAP1 Health Risk Pathogenic Spastic paraplegia 80, autosomal dominant
RS1563920000 UBAP1 Health Risk Pathogenic Spastic paraplegia 80, autosomal dominant
RS1563920132 UBAP1 Health Risk Pathogenic Spastic paraplegia 80, autosomal dominant
RS1563920172 UBAP1 Health Risk Pathogenic Spastic paraplegia 80, autosomal dominant
RS1563920252 UBAP1 Health Risk Pathogenic Spastic paraplegia 80, autosomal dominant
RS1563920268 UBAP1 Health Risk Pathogenic Spastic paraplegia 80, autosomal dominant
RS1563921179 FREM1 Health Risk Pathogenic —
RS1563929039 TPM2 Health Risk Pathogenic/Likely pathogenic Arthrogryposis, distal
RS1563929143 TPM2 Health Risk Likely pathogenic Arthrogryposis, distal
RS1563929383 TPM2 Health Risk Pathogenic Arthrogryposis, distal
RS1563929454 TPM2 Health Risk Conflicting classifications of pathogenicity Congenital myopathy 23, Arthrogryposis
RS1563930168 GNE Health Risk Pathogenic GNE myopathy, Sialuria
RS1563930321 GNE Health Risk Conflicting classifications of pathogenicity Sialuria, GNE myopathy
RS1563939611 VPS13A Health Risk Pathogenic Chorea-acanthocytosis, Chorea-acanthocytosis
RS1563939617 VPS13A Health Risk Pathogenic —
RS1563941569 SYNE1 Health Risk Pathogenic Autosomal recessive ataxia, Beauce type
RS1563945076 APTX Health Risk Pathogenic Ataxia, early-onset
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