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
RS2073621465 F8 Health Risk Likely pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS2073628823 COL4A3 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS2073629527 ASPA Health Risk Pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS2073630720 COL4A3 Health Risk Pathogenic/Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS2073632657 ASPA Health Risk Conflicting classifications of pathogenicity Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS2073633067 ASPA Health Risk Pathogenic Inborn genetic diseases, Spongy degeneration of central nervous system
RS2073645237 TTN Health Risk Pathogenic —
RS2073646176 COL4A3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS2073646633 COL4A3 Health Risk Pathogenic —
RS2073652081 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2073658 USF1 Health Risk risk factor Hyperlipidemia, familial combined
RS2073669074 ASPA Health Risk Pathogenic/Likely pathogenic Spongy degeneration of central nervous system, Abnormality of metabolism/homeostasis
RS2073701307 PRPF31 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa
RS2073701678 PRPF31 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS2073702243 PRPF31 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS2073703461 PRPF31 Health Risk Likely pathogenic Retinitis pigmentosa 11, Retinitis pigmentosa 11
RS2073704298 PRPF31 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS2073708638 PRPF31 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS2073708846 PRPF31 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2073709089 PRPF31 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2073709795 PRPF31 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS2073711 CILP Health Risk Benign; risk factor Lumbar disc disease, susceptibility to
RS2073715263 COL4A3 Health Risk Pathogenic/Likely pathogenic Autosomal dominant Alport syndrome, Hematuria
RS2073718422 COL4A3 Health Risk Pathogenic —
RS2073745817 NBEA Health Risk Pathogenic Neurodevelopmental disorder with or without early-onset generalized epilepsy, Neurodevelopmental disorder with or without early-onset generalized epilepsy
RS2073752422 COL4A3 Health Risk Likely pathogenic Alport syndrome, Alport syndrome
RS2073755958 F8 Health Risk Pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS2073763723 STRA6 Health Risk Pathogenic Matthew-Wood syndrome, Matthew-Wood syndrome
RS2073764726 F8 Health Risk Conflicting classifications of pathogenicity —
RS2073766224 STRA6 Health Risk Pathogenic Matthew-Wood syndrome, Matthew-Wood syndrome
RS2073779014 ASPA Health Risk Pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS2073793798 F8 Health Risk Pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS2073798309 PRPF31 Health Risk Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 11
RS2073798559 PRPF31 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS2073800655 PRPF31 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2073801044 PRPF31 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 11, Retinitis pigmentosa 11
RS2073803030 STRA6 Health Risk Pathogenic Matthew-Wood syndrome, Matthew-Wood syndrome
RS2073817463 PRPF31 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS2073817965 PRPF31 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2073818085 PRPF31 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa 11
RS2073818439 PRPF31;PRPF31-AS1 Health Risk Pathogenic —
RS2073842959 PRPF31 Health Risk Pathogenic Retinitis pigmentosa 11, Retinitis pigmentosa 11
RS2073854068 PRPF31 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2073855020 PRPF31 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS2073856361 PRPF31 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS2073858956 SIN3A Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2073859427 FHL1 Health Risk Conflicting classifications of pathogenicity X-linked myopathy with postural muscle atrophy, X-linked myopathy with postural muscle atrophy
RS2073860048 FHL1 Health Risk Pathogenic X-linked myopathy with postural muscle atrophy, X-linked myopathy with postural muscle atrophy
RS2073864792 FHL1 Health Risk Pathogenic X-linked myopathy with postural muscle atrophy, X-linked myopathy with postural muscle atrophy
RS2073866799 FHL1 Health Risk Pathogenic X-linked myopathy with postural muscle atrophy, Thyroid cancer
RS2073871791 PRPF31 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS2073873693 PRPF31 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2073873973 PRPF31 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 11, Retinitis pigmentosa 11
RS2073875313 PRPF31 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2073875700 PRPF31 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS2073876392 PRPF31 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2073877472 ASPA Health Risk Pathogenic/Likely pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS2073885767 FHL1 Health Risk Pathogenic X-linked myopathy with postural muscle atrophy, X-linked myopathy with postural muscle atrophy
RS2073913069 FHL1 Health Risk Pathogenic X-linked myopathy with postural muscle atrophy, X-linked myopathy with postural muscle atrophy
RS2073915687 FHL1 Health Risk Likely pathogenic Asymmetric septal hypertrophy, Asymmetric septal hypertrophy
RS2073916521 FHL1 Health Risk Pathogenic X-linked myopathy with postural muscle atrophy, X-linked myopathy with postural muscle atrophy
RS2073922219 SETBP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2073923152 SETBP1 Health Risk Likely pathogenic —
RS2073923280 SETBP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2073926924 PRPF31 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa
RS2073927340 SETBP1 Health Risk Conflicting classifications of pathogenicity —
RS2073927586 PRPF31 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2073929830 SETBP1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 29
RS2073958098 ASPA Health Risk Likely pathogenic Spongy degeneration of central nervous system, Canavan Disease
RS2073961843 PRPF31 Health Risk Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 11
RS2073961882 PRPF31 Health Risk Pathogenic —
RS2073962058 PRPF31 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS2073962186 PRPF31 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS2073964314 PRPF31 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2073964376 FHL1 Health Risk Conflicting classifications of pathogenicity X-linked myopathy with postural muscle atrophy, Cardiovascular phenotype
RS2073964950 PRPF31 Health Risk Pathogenic Retinitis pigmentosa, Retinal dystrophy
RS2073970078 PRPF31 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS2073970450 PRPF31 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2073970897 PRPF31 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS2073971805 PRPF31 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS2073971858 PRPF31 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2073971890 PRPF31 Health Risk Pathogenic Retinitis pigmentosa 11, Retinitis pigmentosa 11
RS2073994731 KDM5C Health Risk Likely pathogenic Spastic paraplegia, Spastic paraplegia
RS2073994786 KDM5C Health Risk Pathogenic —
RS2074020491 RPS19 Health Risk Pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS2074021310 RPS19 Health Risk Pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS2074026880 RPS19 Health Risk Pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS2074027448 RPS19 Health Risk Pathogenic —
RS2074043162 PRPF31 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2074044055 MED25 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome
RS2074049374 MED25 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Inborn genetic diseases
RS2074057980 CIB2 Health Risk Pathogenic —
RS2074091750 IQSEC2 Health Risk Pathogenic Intellectual disability, X-linked 1
RS2074092203 KCNJ16 Health Risk Likely pathogenic Hypokalemic tubulopathy and deafness, Hypokalemic tubulopathy and deafness
RS2074094096 NDUFB7 Health Risk Likely pathogenic Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes, Mitochondrial complex I deficiency
RS2074096700 IQSEC2 Health Risk Likely pathogenic Intellectual disability, X-linked 1
RS2074097651 IQSEC2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 1
RS2074102664 STRA6 Health Risk Pathogenic Matthew-Wood syndrome, Matthew-Wood syndrome
RS2074117985 IQSEC2 Health Risk Likely pathogenic Intellectual disability, X-linked 1
RS2074118749 RPS19 Health Risk Pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia
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