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
RS2471187411 FLNB Health Risk Conflicting classifications of pathogenicity FLNB-related disorder, FLNB-related disorder
RS2471187488 DNAH1 Health Risk Pathogenic Spermatogenic failure 18, Ciliary dyskinesia
RS2471189312 DNAH1 Health Risk Pathogenic Spermatogenic failure 18, Ciliary dyskinesia
RS2471190127 FLNB Health Risk Pathogenic —
RS2471190188 FLNB Health Risk Pathogenic —
RS2471190195 FLNB Health Risk Likely pathogenic FLNB-related disorder, FLNB-related disorder
RS2471193161 DNAH1 Health Risk Pathogenic Spermatogenic failure 18, Ciliary dyskinesia
RS2471194994 UNC80 Health Risk Likely pathogenic Hypotonia, infantile
RS2471196281 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2471197087 FLNB Health Risk Pathogenic —
RS2471197349 FLNB Health Risk Likely pathogenic FLNB-related disorder, FLNB-related disorder
RS2471199350 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2471199391 GLB1 Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-IV-B
RS2471202406 DNAH1 Health Risk Likely pathogenic Spermatogenic failure 18, Ciliary dyskinesia
RS2471203949 UNC80 Health Risk Likely pathogenic —
RS2471205489 UNC80 Health Risk Pathogenic —
RS2471206868 FLNB Health Risk Likely pathogenic —
RS2471206938 DNAH1 Health Risk Likely pathogenic Spermatogenic failure 18, Ciliary dyskinesia
RS2471210683 FLNB Health Risk Pathogenic —
RS2471214224 RPL15 Health Risk Pathogenic Diamond-Blackfan anemia 12, Diamond-Blackfan anemia 12
RS2471214687 RPL15 Health Risk Pathogenic Diamond-Blackfan anemia 12, Diamond-Blackfan anemia 12
RS2471215139 RPL15 Health Risk Pathogenic Diamond-Blackfan anemia 12, Diamond-Blackfan anemia 12
RS2471215565 RPL15 Health Risk Pathogenic —
RS2471215714 LTBP4 Health Risk Pathogenic —
RS2471216516 DNAH1 Health Risk Pathogenic Spermatogenic failure 18, Ciliary dyskinesia
RS2471216959 DNAH1 Health Risk Likely pathogenic Spermatogenic failure 18, Ciliary dyskinesia
RS2471221205 RPL15 Health Risk Pathogenic Diamond-Blackfan anemia 12, RPL15-related disorder
RS2471221603 DNAH1 Health Risk Likely pathogenic DNAH1-related disorder, DNAH1-related disorder
RS2471224032 UNC80 Health Risk Likely pathogenic Hypotonia, infantile
RS2471240080 UNC80 Health Risk Likely pathogenic —
RS2471245358 DNAH1 Health Risk Likely pathogenic DNAH1-related disorder, DNAH1-related disorder
RS2471246828 LMOD3 Health Risk Likely pathogenic Nemaline myopathy 10, Nemaline myopathy 10
RS2471247835 GLB1 Health Risk Pathogenic GM1 gangliosidosis, Mucopolysaccharidosis
RS2471247981 GLB1 Health Risk Pathogenic GM1 gangliosidosis, Mucopolysaccharidosis
RS2471248129 GLB1 Health Risk Likely pathogenic GM1 gangliosidosis, Mucopolysaccharidosis
RS2471248154 GLB1 Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-IV-B
RS2471248188 GLB1 Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-B
RS2471248213 LMOD3 Health Risk Pathogenic Nemaline myopathy 10, Nemaline myopathy 10
RS2471248566 LMOD3 Health Risk Pathogenic Nemaline myopathy 10, Nemaline myopathy 10
RS2471248603 GLB1 Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-B
RS2471248619 GLB1 Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-B
RS2471249103 GLB1 Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-B
RS2471250712 CACNA2D2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2471253329 DNAH1 Health Risk Pathogenic Spermatogenic failure 18, Ciliary dyskinesia
RS2471255691 GLB1 Health Risk Pathogenic GM1 gangliosidosis, Mucopolysaccharidosis
RS2471255806 GLB1 Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-B
RS2471255841 GLB1 Health Risk Pathogenic GM1 gangliosidosis, Mucopolysaccharidosis
RS2471255852 GLB1 Health Risk Likely pathogenic Infantile GM1 gangliosidosis, GM1 gangliosidosis type 2
RS2471256182 DNAH1 Health Risk Pathogenic Spermatogenic failure 18, Ciliary dyskinesia
RS2471259886 DNAH1 Health Risk Likely pathogenic Spermatogenic failure 18, Ciliary dyskinesia
RS2471261045 GLB1 Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-B
RS2471261296 GLB1 Health Risk Pathogenic GM1 gangliosidosis, Mucopolysaccharidosis
RS2471268044 UNC80 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2471268382 UNC80 Health Risk Pathogenic —
RS2471269709 DNAH1 Health Risk Pathogenic Spermatogenic failure 18, Ciliary dyskinesia
RS2471270710 GLB1 Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-B
RS2471270755 GLB1 Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-B
RS2471270873 GLB1 Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-IV-B
RS2471271015 GLB1 Health Risk Pathogenic GM1 gangliosidosis, Mucopolysaccharidosis
RS2471278661 ZBTB47 Health Risk Pathogenic —
RS2471279230 GLB1 Health Risk Likely pathogenic Infantile GM1 gangliosidosis, Infantile GM1 gangliosidosis
RS2471280331 TRNT1 Health Risk Pathogenic Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome, Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
RS2471280487 TRNT1 Health Risk Pathogenic Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome, Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
RS2471291875 DNAH1 Health Risk Likely pathogenic DNAH1-related disorder, DNAH1-related disorder
RS2471292410 DNAH1 Health Risk Likely pathogenic Spermatogenic failure 18, Ciliary dyskinesia
RS2471297630 DNAH1 Health Risk Pathogenic Spermatogenic failure 18, Ciliary dyskinesia
RS2471302472 DNAH1 Health Risk Pathogenic Spermatogenic failure 18, Ciliary dyskinesia
RS2471306330 DNASE1L3 Health Risk Pathogenic —
RS2471306385 DNASE1L3 Health Risk Pathogenic Autosomal systemic lupus erythematosus type 16, Autosomal systemic lupus erythematosus type 16
RS2471309569 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2471311812 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2471311897 KLHL40 Health Risk Pathogenic Nemaline myopathy 8, Nemaline myopathy 8
RS2471312297 MLH1 Health Risk Pathogenic Colorectal cancer, hereditary nonpolyposis
RS2471312477 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2471312579 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2471313069 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2471313267 MLH1 Health Risk Pathogenic Colorectal cancer, hereditary nonpolyposis
RS2471313310 MLH1 Health Risk Pathogenic Colorectal cancer, hereditary nonpolyposis
RS2471313402 MLH1 Health Risk Pathogenic/Likely pathogenic Colorectal cancer, hereditary nonpolyposis
RS2471313630 MLH1 Health Risk Pathogenic Colorectal cancer, hereditary nonpolyposis
RS2471313840 MLH1 Health Risk Likely pathogenic Colorectal cancer, hereditary nonpolyposis
RS2471314145 MLH1 Health Risk Pathogenic Colorectal cancer, hereditary nonpolyposis
RS2471314528 MLH1 Health Risk Pathogenic Colorectal cancer, hereditary nonpolyposis
RS2471314653 MLH1 Health Risk Pathogenic Colorectal cancer, hereditary nonpolyposis
RS2471315426 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Colorectal cancer
RS2471316010 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2471317670 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2471317702 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2471317811 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS2471318074 MLH1 Health Risk Pathogenic Colorectal cancer, hereditary nonpolyposis
RS2471318663 MLH1 Health Risk Pathogenic Colorectal cancer, hereditary nonpolyposis
RS2471318734 MLH1 Health Risk Pathogenic Colorectal cancer, hereditary nonpolyposis
RS2471319029 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2471319061 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2471319263 MLH1 Health Risk Pathogenic Colorectal cancer, hereditary nonpolyposis
RS2471319265 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS2471320326 BAP1 Health Risk Pathogenic BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome
RS2471320496 BAP1 Health Risk Pathogenic/Likely pathogenic BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome
RS2471321157 DNASE1L3 Health Risk Likely pathogenic —
RS2471321922 BAP1 Health Risk Pathogenic BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome
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