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
RS2147214168 PHEX Health Risk Pathogenic —
RS2147214451 COL9A3 Health Risk Pathogenic —
RS2147214584 TCF20 Health Risk Pathogenic See cases, See cases
RS2147214736 TCF20 Health Risk Likely pathogenic Developmental delay with variable intellectual impairment and behavioral abnormalities, Developmental delay with variable intellectual impairment and behavioral abnormalities
RS2147215369 BCOR Health Risk Pathogenic/Likely pathogenic Oculofaciocardiodental syndrome, Oculofaciocardiodental syndrome
RS2147215795 TCF20 Health Risk Pathogenic Developmental delay with variable intellectual impairment and behavioral abnormalities, Developmental delay with variable intellectual impairment and behavioral abnormalities
RS2147216927 LDLR Health Risk Pathogenic/Likely pathogenic Hypercholesterolemia, familial
RS2147217022 TCF20 Health Risk Likely pathogenic Developmental delay with variable intellectual impairment and behavioral abnormalities, Developmental delay with variable intellectual impairment and behavioral abnormalities
RS2147217152 TCF20 Health Risk Pathogenic Developmental delay with variable intellectual impairment and behavioral abnormalities, Developmental delay with variable intellectual impairment and behavioral abnormalities
RS2147217187 PHEX Health Risk Pathogenic —
RS2147217220 PHEX Health Risk Pathogenic —
RS2147217224 PHEX Health Risk Pathogenic —
RS2147217259 PHEX Health Risk Pathogenic —
RS2147217274 LDLR Health Risk Likely pathogenic —
RS2147217280 PHEX Health Risk Pathogenic —
RS2147217293 PHEX Health Risk Pathogenic —
RS2147217296 PHEX Health Risk Pathogenic —
RS2147217348 PHEX Health Risk Pathogenic —
RS2147217463 PHEX Health Risk Likely pathogenic —
RS2147217467 LDLR Health Risk Likely pathogenic Familial hypercholesterolemia, Familial hypercholesterolemia
RS2147218235 GK Health Risk Pathogenic Thyroid cancer, nonmedullary
RS2147218338 TCF20 Health Risk Pathogenic Craniosynostosis syndrome, Craniosynostosis syndrome
RS2147218495 TCF20 Health Risk Pathogenic Developmental delay with variable intellectual impairment and behavioral abnormalities, Developmental delay with variable intellectual impairment and behavioral abnormalities
RS2147218558 ARHGEF9 Health Risk Pathogenic Developmental and epileptic encephalopathy, 8
RS2147218789 NLGN4X Health Risk Likely pathogenic —
RS2147220327 TCF20 Health Risk Pathogenic —
RS2147220533 RBM10 Health Risk Likely pathogenic RBM10-related disorder, Malignant tumor of urinary bladder
RS2147221657 PIGN Health Risk Likely pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS2147221870 TCF20 Health Risk Pathogenic Developmental delay with variable intellectual impairment and behavioral abnormalities, Developmental delay with variable intellectual impairment and behavioral abnormalities
RS2147222889 TUBGCP6 Health Risk Pathogenic —
RS2147223179 LDLR Health Risk Pathogenic Familial hypercholesterolemia, Cardiovascular phenotype
RS2147223453 TCF20 Health Risk Pathogenic —
RS2147223487 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS2147223985 LDLR Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS2147224076 RBM10 Health Risk Likely pathogenic —
RS2147224405 USP27X Health Risk Pathogenic/Likely pathogenic Neurodevelopmental disorder, Intellectual disability
RS2147224952 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS2147225024 LDLR Health Risk Pathogenic Familial hypercholesterolemia, Familial hypercholesterolemia
RS2147225060 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS2147225123 CIC Health Risk Likely pathogenic —
RS2147225532 LDLR Health Risk Pathogenic/Likely pathogenic Familial hypercholesterolemia, Familial hypercholesterolemia
RS2147225679 RBM10 Health Risk Pathogenic —
RS2147227522 RPGR Health Risk Pathogenic Retinitis pigmentosa 3, X-linked cone-rod dystrophy
RS2147228929 LDLR Health Risk Pathogenic/Likely pathogenic Familial hypercholesterolemia, Familial hypercholesterolemia
RS2147230105 USP9X Health Risk Pathogenic —
RS2147230302 USP9X Health Risk Likely pathogenic Intellectual disability, X-linked 99
RS2147232242 RPGR Health Risk Pathogenic Retinal dystrophy, Primary ciliary dyskinesia
RS2147233083 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2147234195 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2147235760 COL9A3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Epiphyseal dysplasia
RS2147238385 RPGR Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2147238397 RPGR Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2147238438 RPGR Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2147239145 LDLR Health Risk Pathogenic —
RS2147239911 IL1RAPL1 Health Risk Likely pathogenic See cases, See cases
RS2147241240 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS2147241441 BCOR Health Risk Pathogenic Oculofaciocardiodental syndrome, Oculofaciocardiodental syndrome
RS2147241499 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS2147241525 BCOR Health Risk Likely pathogenic Oculofaciocardiodental syndrome, Oculofaciocardiodental syndrome
RS2147241680 LDLR Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2147241831 LDLR Health Risk Conflicting classifications of pathogenicity Familial hypercholesterolemia, Familial hypercholesterolemia
RS2147241875 LDLR Health Risk Pathogenic Familial hypercholesterolemia, Familial hypercholesterolemia
RS2147241900 LDLR Health Risk Pathogenic Familial hypercholesterolemia, Familial hypercholesterolemia
RS2147241957 LDLR Health Risk Pathogenic/Likely pathogenic Dyslipidemia, Dyslipidemia
RS2147241974 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS2147244054 GRIA3 Health Risk Conflicting classifications of pathogenicity Syndromic X-linked intellectual disability 94, Syndromic X-linked intellectual disability 94
RS2147244480 TNNT1 Health Risk Pathogenic —
RS2147244798 MSL3 Health Risk Pathogenic Basilicata-Akhtar syndrome, Basilicata-Akhtar syndrome
RS2147244828 MSL3 Health Risk Pathogenic Basilicata-Akhtar syndrome, Basilicata-Akhtar syndrome
RS2147245261 TLR7 Health Risk Pathogenic Systemic lupus erythematosus 17, Systemic lupus erythematosus 17
RS2147245787 MSL3 Health Risk Likely pathogenic Basilicata-Akhtar syndrome, Basilicata-Akhtar syndrome
RS2147245804 USP9X Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 99
RS2147245859 TLR7 Health Risk Pathogenic Systemic lupus erythematosus 17, Systemic lupus erythematosus
RS2147246788 BPTF Health Risk Likely pathogenic Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
RS2147246807 LDLR Health Risk Pathogenic Familial hypercholesterolemia, Familial hypercholesterolemia
RS2147247193 BPTF Health Risk Pathogenic Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
RS2147247534 RPGR Health Risk Pathogenic Retinitis pigmentosa 3, Retinitis pigmentosa 3
RS2147247578 MSL3 Health Risk Pathogenic X-linked neurodevelopmental delay, dysmorphism
RS2147247751 RPGR Health Risk Pathogenic Retinitis pigmentosa 3, Retinitis pigmentosa 3
RS2147247764 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS2147247961 HUWE1 Health Risk Likely pathogenic Intellectual disability, X-linked syndromic
RS2147248019 RPGR Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2147248035 RPGR Health Risk Likely pathogenic —
RS2147248070 RPGR Health Risk Pathogenic RETINITIS PIGMENTOSA, SINORESPIRATORY INFECTIONS
RS2147248124 RPGR Health Risk Pathogenic Retinitis pigmentosa 3, Retinitis pigmentosa 3
RS2147248471 LDLR Health Risk Pathogenic Familial hypercholesterolemia, Familial hypercholesterolemia
RS2147249014 CNKSR2 Health Risk Pathogenic —
RS2147249259 LDLR Health Risk Pathogenic Familial hypercholesterolemia, Familial hypercholesterolemia
RS2147249327 LDLR Health Risk Pathogenic Familial hypercholesterolemia, Familial hypercholesterolemia
RS2147249432 LDLR Health Risk Pathogenic Familial hypercholesterolemia, Familial hypercholesterolemia
RS2147250007 CNKSR2 Health Risk Pathogenic —
RS2147250167 MSL3 Health Risk Pathogenic Basilicata-Akhtar syndrome, Basilicata-Akhtar syndrome
RS2147251154 USP9X Health Risk Pathogenic/Likely pathogenic Intellectual disability, X-linked 99
RS2147251555 IL1RAPL1 Health Risk Likely pathogenic Intellectual disability, X-linked 21
RS2147252300 MID1 Health Risk Likely pathogenic X-linked Opitz G/BBB syndrome, X-linked Opitz G/BBB syndrome
RS2147252384 MID1 Health Risk Likely pathogenic X-linked Opitz G/BBB syndrome, X-linked Opitz G/BBB syndrome
RS2147252708 DMD Health Risk Pathogenic Becker muscular dystrophy, Becker muscular dystrophy
RS2147253222 DMD Health Risk Pathogenic/Likely pathogenic Duchenne muscular dystrophy, Neuromuscular disease caused by qualitative or quantitative defects of dystrophin
RS2147253701 DMD Health Risk Pathogenic Becker muscular dystrophy, Becker muscular dystrophy
RS2147253798 TNNT1 Health Risk Likely pathogenic Nemaline myopathy 5, Nemaline myopathy 5
« Prev 1 ... 1883 1884 1885 1886 1887 1888 1889 ... 4509 Next »

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

Get Started Free →