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
RS1775514576 RSPH4A Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1775529306 MAK Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS1775537467 CEP85L Health Risk Pathogenic Lissencephaly 10, Posterior Predominant Lissencephaly
RS1775537638 CEP85L Health Risk Likely pathogenic Posterior Predominant Lissencephaly, Posterior Predominant Lissencephaly
RS1775546363 MAK Health Risk Pathogenic —
RS1775559365 HIVEP2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 43
RS1775590631 HIVEP2 Health Risk Conflicting classifications of pathogenicity —
RS1775596006 PERP Health Risk Pathogenic Erythrokeratodermia variabilis et progressiva 7, Erythrokeratodermia variabilis et progressiva 7
RS1775596924 PERP Health Risk Pathogenic Olmsted syndrome 2, Olmsted syndrome 2
RS1775596990 PERP Health Risk Pathogenic Olmsted syndrome 2, Olmsted syndrome 2
RS1775623278 HIVEP2 Health Risk Pathogenic Intellectual disability, autosomal dominant 43
RS1775638556 MYO6 Health Risk Likely pathogenic —
RS1775719317 RSPH4A Health Risk Pathogenic/Likely pathogenic Neurodevelopmental delay, Primary ciliary dyskinesia
RS1775758975 RSPH4A Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1775769921 RFX6 Health Risk Likely pathogenic Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome, Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome
RS1775776645 RSPH4A Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1775783657 CPLANE1 Health Risk Pathogenic Joubert syndrome, Joubert syndrome
RS1775821411 CPLANE1 Health Risk Pathogenic Joubert syndrome 17, Joubert syndrome 17
RS1775850515 FIG4 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 4J, Charcot-Marie-Tooth disease type 4J
RS1775923311 EPM2A Health Risk Pathogenic Progressive myoclonic epilepsy, Progressive myoclonic epilepsy
RS1775958137 MYO6 Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss 22, Autosomal dominant nonsyndromic hearing loss 22
RS1775982467 MED23 Health Risk Likely pathogenic Intellectual disability, autosomal recessive 18
RS1775984639 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS1775986353 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1775988406 CYP21A2 Health Risk Pathogenic/Likely pathogenic ADRENAL HYPERPLASIA, CONGENITAL
RS1775996165 CYP21A2 Health Risk Pathogenic —
RS1776055887 TNFAIP3 Health Risk Likely pathogenic —
RS1776070919 CYP21A2 Health Risk Likely pathogenic —
RS1776095671 CYP21A2 Health Risk Pathogenic —
RS1776123817 CYP21A2 Health Risk Likely pathogenic ADRENAL HYPERPLASIA, CONGENITAL
RS1776147010 TUBB Health Risk Likely pathogenic Multiple benign circumferential skin creases on limbs 1, Multiple benign circumferential skin creases on limbs 1
RS1776174152 MED23 Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS1776193326 CYP21A2 Health Risk Pathogenic ADRENAL HYPERPLASIA, CONGENITAL
RS1776199533 MAP3K7 Health Risk Pathogenic Cardiospondylocarpofacial syndrome, Cardiospondylocarpofacial syndrome
RS1776217797 CYP21A2 Health Risk Conflicting classifications of pathogenicity ADRENAL HYPERPLASIA, CONGENITAL
RS1776224762 FIG4 Health Risk Pathogenic —
RS1776234662 CYP21A2 Health Risk Pathogenic/Likely pathogenic ADRENAL HYPERPLASIA, CONGENITAL
RS1776240589 CYP21A2 Health Risk Pathogenic ADRENAL HYPERPLASIA, CONGENITAL
RS1776275893 TNFAIP3 Health Risk Pathogenic —
RS1776276356 ZBTB24 Health Risk Likely pathogenic Immunodeficiency-centromeric instability-facial anomalies syndrome 2, Immunodeficiency-centromeric instability-facial anomalies syndrome 2
RS1776278098 TNFAIP3 Health Risk Pathogenic Autoinflammatory syndrome, familial
RS1776281365 CCN6 Health Risk Pathogenic/Likely pathogenic Progressive pseudorheumatoid dysplasia, Progressive pseudorheumatoid dysplasia
RS1776281475 CCN6 Health Risk Pathogenic —
RS1776290442 ZBTB24 Health Risk Pathogenic Immunodeficiency-centromeric instability-facial anomalies syndrome 2, Immunodeficiency-centromeric instability-facial anomalies syndrome 2
RS1776309065 CYP21A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1776314873 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS1776315132 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS1776319116 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS1776320682 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS1776322078 KCNQ5 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 46
RS1776322102 LAMA2 Health Risk Likely pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS1776323909 CYP21A2 Health Risk Pathogenic/Likely pathogenic —
RS1776331041 TNFAIP3 Health Risk Pathogenic —
RS1776339162 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1776361528 TUBB Health Risk Likely pathogenic Complex cortical dysplasia with other brain malformations 6, Complex cortical dysplasia with other brain malformations 6
RS1776373606 ACSF3 Health Risk Pathogenic Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS1776393502 FIG4 Health Risk Pathogenic Amyotrophic lateral sclerosis type 11, Amyotrophic lateral sclerosis type 11
RS1776395738 TUBB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1776399868 ZBTB24 Health Risk Pathogenic Immunodeficiency-centromeric instability-facial anomalies syndrome 2, Immunodeficiency-centromeric instability-facial anomalies syndrome 2
RS1776402708 ZBTB24 Health Risk Likely pathogenic —
RS1776405797 TRDN Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Cardiovascular phenotype
RS1776423674 RTN4IP1 Health Risk Pathogenic —
RS1776430407 TUBB Health Risk Likely pathogenic —
RS1776459285 TUBB Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1776463168 MAP3K7 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1776478413 TUBB Health Risk Pathogenic Complex cortical dysplasia with other brain malformations 6, Complex cortical dysplasia with other brain malformations 6
RS1776514016 CCN6 Health Risk Pathogenic —
RS1776515103 RTN4IP1 Health Risk Likely pathogenic —
RS1776518694 RARS2 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS1776627236 CCN6 Health Risk Likely pathogenic Progressive pseudorheumatoid dysplasia, Progressive pseudorheumatoid dysplasia
RS1776631188 CCN6 Health Risk Likely pathogenic —
RS1776635075 CCN6 Health Risk Pathogenic —
RS1776708773 MAK Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1776708973 MAK Health Risk Likely pathogenic Retinitis pigmentosa 62, Retinitis pigmentosa 62
RS1776730034 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS1776734650 RTN4IP1 Health Risk Pathogenic —
RS1776735394 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1776744347 SYNGAP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 5
RS1776744623 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1776761448 CCN6 Health Risk Pathogenic —
RS1776788274 EPM2A Health Risk Pathogenic Lafora disease, Lafora disease
RS1776791266 EPM2A Health Risk Pathogenic Progressive myoclonic epilepsy, Progressive myoclonic epilepsy
RS1776805400 CCN6 Health Risk Pathogenic Progressive pseudorheumatoid dysplasia, Progressive pseudorheumatoid dysplasia
RS1776808199 CCN6 Health Risk Pathogenic —
RS1776810581 RARS2 Health Risk Pathogenic —
RS1776817138 EPM2A Health Risk Pathogenic Progressive myoclonic epilepsy, Progressive myoclonic epilepsy
RS1776911945 MAP3K7 Health Risk Conflicting classifications of pathogenicity Cardiospondylocarpofacial syndrome, Cardiospondylocarpofacial syndrome
RS1776941586 SYNGAP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 5
RS1776944236 SYNGAP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 5
RS1776950897 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, Muscular dystrophy
RS1776953529 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS1776953853 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS1776964566 LAMA2 Health Risk Likely pathogenic LAMA2-related disorder, LAMA2-related disorder
RS1777036380 GTF2H5 Health Risk Pathogenic Trichothiodystrophy 3, photosensitive
RS1777038679 GTF2H5 Health Risk Pathogenic Trichothiodystrophy 3, photosensitive
RS1777047446 QRSL1 Health Risk Pathogenic Combined oxidative phosphorylation deficiency 40, Combined oxidative phosphorylation deficiency 40
RS1777073184 MYO6 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1777174302 SYNGAP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 5
RS1777175608 SYNGAP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 5
RS1777196665 SYNGAP1 Health Risk Pathogenic Complex neurodevelopmental disorder, Inborn genetic diseases
« Prev 1 ... 1229 1230 1231 1232 1233 1234 1235 ... 4509 Next »

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

Get Started Free →