SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS1131691587 COL12A1 Health Risk Likely pathogenic —
RS1131691588 FBN1 Health Risk Likely pathogenic —
RS1131691590 GRIN1 Health Risk Pathogenic —
RS1131691592 WDR45 Health Risk Pathogenic/Likely pathogenic Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS1131691593 DNAJC3 Health Risk Pathogenic/Likely pathogenic Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome, Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome
RS1131691594 L1CAM Health Risk Likely pathogenic —
RS1131691595 NTRK1 Health Risk Likely pathogenic —
RS1131691596 RANBP2 Health Risk Likely pathogenic —
RS1131691597 TUBA1A Health Risk Likely pathogenic Tubulinopathy, Tubulinopathy
RS1131691598 GCK Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS1131691599 SCN1A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS1131691600 SCN1A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS1131691601 COL7A1 Health Risk Pathogenic —
RS1131691602 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1131691603 PCDH19 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 9
RS1131691604 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1131691605 PROS1 Health Risk Pathogenic —
RS1131691606 NPHS1 Health Risk Conflicting classifications of pathogenicity Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS1131691607 COL1A1 Health Risk Pathogenic —
RS1131691608 DDX3X Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1131691609 AHDC1 Health Risk Pathogenic —
RS1131691610 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1131691611 ABCA12 Health Risk Pathogenic —
RS1131691612 ABCA4 Health Risk Pathogenic —
RS1131691614 KMT2A Health Risk Pathogenic —
RS1131691615 SLC19A3 Health Risk Conflicting classifications of pathogenicity —
RS1131691616 ZC4H2 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Wieacker-Wolff syndrome
RS1131691617 RAI1 Health Risk Pathogenic —
RS1131691618 TP53 Health Risk Pathogenic —
RS1131691619 OFD1 Health Risk Pathogenic —
RS1131691620 CASR Health Risk Pathogenic —
RS1131691622 FH Health Risk Pathogenic —
RS1131691623 EXT1 Health Risk Pathogenic Exostoses, multiple
RS1131691625 AR Health Risk Pathogenic —
RS1131691626 RYR1 Health Risk Pathogenic —
RS1131691627 CHD8 Health Risk Pathogenic Intellectual developmental disorder with autism and macrocephaly, Intellectual developmental disorder with autism and macrocephaly
RS1131691628 MYH2 Health Risk Conflicting classifications of pathogenicity Myopathy, proximal
RS1131691630 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS1131691632 TUBB3 Health Risk Likely pathogenic —
RS1131691635 SYNGAP1 Health Risk Pathogenic —
RS1131691636 AIRE Health Risk Likely pathogenic —
RS1131691637 FOLR1 Health Risk Conflicting classifications of pathogenicity Cerebral folate transport deficiency, Inborn genetic diseases
RS1131691643 SPTAN1 Health Risk Pathogenic/Likely pathogenic Congenital cerebellar hypoplasia, Developmental and epileptic encephalopathy
RS1131691644 GAMT Health Risk Pathogenic/Likely pathogenic —
RS1131691645 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1131691646 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS1131691647 PKP1 Health Risk Pathogenic —
RS1131691648 KMT2A Health Risk Pathogenic —
RS1131691649 AMER1 Health Risk Pathogenic —
RS1131691650 IQSEC2 Health Risk Pathogenic —
RS1131691651 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy
RS1131691652 IL2RG Health Risk Pathogenic —
RS1131691653 TCF4 Health Risk Pathogenic —
RS1131691654 ZBTB24 Health Risk Pathogenic Immunodeficiency-centromeric instability-facial anomalies syndrome 2, Immunodeficiency-centromeric instability-facial anomalies syndrome 2
RS1131691655 TTN Health Risk Pathogenic Primary familial dilated cardiomyopathy, Primary familial dilated cardiomyopathy
RS1131691656 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1131691657 IGHMBP2 Health Risk Pathogenic Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS1131691658 KCNQ2 Health Risk Pathogenic —
RS1131691659 CC2D2A Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS1131691660 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, LAMA2-related muscular dystrophy
RS1131691661 DYRK1A Health Risk Pathogenic —
RS1131691663 EEF1A2 Health Risk Likely pathogenic —
RS1131691665 LDB3 Health Risk Likely pathogenic —
RS1131691666 L1CAM Health Risk Pathogenic —
RS1131691667 EYA1 Health Risk Pathogenic Melnick-Fraser syndrome, Branchiootic syndrome 1
RS1131691668 ASXL3 Health Risk Pathogenic/Likely pathogenic Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
RS1131691671 MED13L Health Risk Pathogenic —
RS1131691672 SATB2 Health Risk Pathogenic Chromosome 2q32-q33 deletion syndrome, Chromosome 2q32-q33 deletion syndrome
RS1131691673 DSP Health Risk Pathogenic/Likely pathogenic Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 8
RS1131691674 ENG Health Risk Pathogenic —
RS1131691675 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1131691676 TPP1 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis
RS1131691677 DMD Health Risk Likely pathogenic —
RS1131691678 CLCN5 Health Risk Likely pathogenic —
RS1131691679 BRAT1 Health Risk Pathogenic/Likely pathogenic Neonatal-onset encephalopathy with rigidity and seizures, Neonatal-onset encephalopathy with rigidity and seizures
RS1131691680 LAMA3 Health Risk Likely pathogenic —
RS1131691681 AR Health Risk Likely pathogenic —
RS1131691682 COMP Health Risk Pathogenic —
RS1131691683 PIK3R2 Health Risk Conflicting classifications of pathogenicity Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome, Overgrowth syndrome and/or cerebral malformations
RS1131691684 SPAST Health Risk Likely pathogenic —
RS1131691685 MYH7 Health Risk Pathogenic Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy
RS1131691686 ACVRL1 Health Risk Pathogenic/Likely pathogenic Telangiectasia, hereditary hemorrhagic
RS1131691687 CLCN4 Health Risk Likely pathogenic CLCN4-related disorder, CLCN4-related disorder
RS1131691692 FBN1 Health Risk Likely pathogenic —
RS1131691693 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1131691696 TUBB4A Health Risk Pathogenic/Likely pathogenic Hypomyelinating leukodystrophy 6, Torsion dystonia 4
RS1131691698 CDC73 Health Risk Pathogenic Parathyroid carcinoma, Parathyroid carcinoma
RS1131691699 UPF3B Health Risk Pathogenic —
RS1131691700 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS1131691702 GRIN2B Health Risk Pathogenic Complex neurodevelopmental disorder, Complex neurodevelopmental disorder
RS1131691703 WDR45 Health Risk Pathogenic —
RS1131691704 H3-3A Health Risk Likely pathogenic —
RS1131691706 ARID1B Health Risk Pathogenic Inborn genetic diseases, Coffin-Siris syndrome 1
RS1131691708 SCN5A Health Risk Pathogenic —
RS1131691709 GJB2 Health Risk Likely pathogenic Nonsyndromic genetic hearing loss, Autosomal recessive nonsyndromic hearing loss 1A
RS1131691710 AR Health Risk Pathogenic —
RS1131691711 SETD5 Health Risk Pathogenic Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
RS1131691712 CACNA1A Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1131691713 MBD5 Health Risk Pathogenic —
RS1131691714 ZEB2 Health Risk Pathogenic —
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