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
RS1555783190 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS1555783211 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS1555783458 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS1555783467 SLC52A3 Health Risk Likely pathogenic Brown-Vialetto-van Laere syndrome 1, Brown-Vialetto-van Laere syndrome 1
RS1555783543 SLC52A3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Brown-Vialetto-van Laere syndrome 1
RS1555784468 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2
RS1555784535 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS1555784586 SMARCA4 Health Risk Pathogenic —
RS1555784801 RYR1 Health Risk Likely pathogenic RYR1-related disorder, RYR1-related disorder
RS1555785054 SMARCA4 Health Risk Likely pathogenic —
RS1555785056 SMARCA4 Health Risk Likely pathogenic Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS1555785090 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS1555785323 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS1555785388 RYR1 Health Risk Likely pathogenic RYR1-related disorder, RYR1-related disorder
RS1555785625 SYNE4 Health Risk Pathogenic —
RS1555785715 BMP2 Health Risk Likely pathogenic Short stature, facial dysmorphism
RS1555785771 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS1555785906 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS1555786145 BMP2 Health Risk Pathogenic Short stature, facial dysmorphism
RS1555786156 BMP2 Health Risk Likely pathogenic Short stature, facial dysmorphism
RS1555786205 RYR1 Health Risk Pathogenic/Likely pathogenic Congenital myopathy with fiber type disproportion, Congenital multicore myopathy with external ophthalmoplegia
RS1555786618 GZF1 Health Risk Pathogenic Joint laxity, short stature
RS1555786729 GZF1 Health Risk Pathogenic Joint laxity, short stature
RS1555786853 RYR1 Health Risk Pathogenic/Likely pathogenic RYR1-related disorder, RYR1-related disorder
RS1555787058 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Myopathy
RS1555787123 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS1555787599 RBCK1 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type IV
RS1555787646 PANK2 Health Risk Pathogenic Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
RS1555787722 ERCC1 Health Risk Pathogenic —
RS1555787799 PANK2 Health Risk Pathogenic Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
RS1555787903 RBCK1 Health Risk Pathogenic/Likely pathogenic Polyglucosan body myopathy type 1, Polyglucosan body myopathy type 1
RS1555788108 SMARCA4 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 16
RS1555788144 SEC23B Health Risk Pathogenic Congenital dyserythropoietic anemia, type II
RS1555788169 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS1555788260 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS1555788304 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS1555788577 RYR1 Health Risk Conflicting classifications of pathogenicity Distal arthrogryposis, Distal arthrogryposis
RS1555788619 PANK2 Health Risk Pathogenic/Likely pathogenic Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
RS1555789019 TCF4 Health Risk Pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS1555789026 TCF4 Health Risk Pathogenic —
RS1555789086 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS1555789091 TCF4 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS1555789124 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS1555789135 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS1555789140 MGME1 Health Risk Pathogenic Mitochondrial DNA depletion syndrome 11, Mitochondrial DNA depletion syndrome 11
RS1555789463 SEC23B Health Risk Likely pathogenic Congenital dyserythropoietic anemia, type II
RS1555789557 PANK2 Health Risk Pathogenic Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
RS1555789811 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS1555789901 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS1555789928 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS1555789938 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS1555790184 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS1555790406 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS1555790429 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS1555790466 POLD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS1555790553 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS1555790554 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS1555790846 PLCB1 Health Risk Pathogenic Self-limited epilepsy with centrotemporal spikes, Self-limited epilepsy with centrotemporal spikes
RS1555790914 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS1555790936 RYR1 Health Risk Pathogenic/Likely pathogenic RYR1-related disorder, RYR1-related disorder
RS1555791151 RYR1 Health Risk Likely pathogenic RYR1-related disorder, RYR1-related disorder
RS1555791188 PRPF31 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa 11
RS1555791268 PPP2R1A Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Houge-Janssens syndrome 2
RS1555791320 POLD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS1555791425 COMP Health Risk Pathogenic/Likely pathogenic —
RS1555791490 COMP Health Risk Likely pathogenic Multiple epiphyseal dysplasia type 1, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
RS1555791556 COMP Health Risk Likely pathogenic Multiple epiphyseal dysplasia type 1, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
RS1555792020 POLD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS1555792415 PRPF31 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS1555792445 PRPF31 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS1555792879 PRPF31 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1555792887 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS1555793039 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS1555793103 MYO5B Health Risk Likely pathogenic Congenital microvillous atrophy, Congenital microvillous atrophy
RS1555793170 PRPF31 Health Risk Pathogenic —
RS1555793199 MYO5B Health Risk Pathogenic Congenital microvillous atrophy, Congenital microvillous atrophy
RS1555793203 PRPF31 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS1555793207 PRPF31 Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1555793236 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS1555793490 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS1555793828 PRPF31;PRPF31-AS1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 11, Retinitis pigmentosa 11
RS1555794184 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, RYR1-related disorder
RS1555794201 PRPF31 Health Risk Pathogenic Retinitis pigmentosa 11, Retinitis pigmentosa 11
RS1555794205 PRPF31 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa 11
RS1555794209 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS1555794286 SNAP25 Health Risk Pathogenic/Likely pathogenic Congenital myasthenic syndrome 18, Developmental and epileptic encephalopathy
RS1555794302 PRPF31 Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1555794509 PRPF31 Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1555795063 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS1555795091 SMARCA4 Health Risk Pathogenic —
RS1555795308 RYR1 Health Risk Pathogenic/Likely pathogenic RYR1-related disorder, RYR1-related disorder
RS1555795341 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS1555795360 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS1555795880 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS1555795884 SMARCA4 Health Risk Pathogenic Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2
RS1555796785 TCF4 Health Risk Likely pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS1555796939 FTL Health Risk Pathogenic Hereditary hyperferritinemia with congenital cataracts, Hereditary hyperferritinemia with congenital cataracts
RS1555796994 FTL Health Risk Conflicting classifications of pathogenicity —
RS1555797129 FTL Health Risk Likely pathogenic —
RS1555797179 CACNA1A Health Risk Pathogenic —
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