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
RS2547126853 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3
RS2547127233 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2547127397 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3
RS2547127446 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3
RS2547127583 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2547127627 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3
RS2547129339 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2547129342 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3
RS2547129460 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3
RS2547129637 DNAH5 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS2547129868 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2547134964 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3
RS2547135070 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2547135145 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3
RS2547135179 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2547135442 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2547139335 SLC2A9 Health Risk Pathogenic —
RS2547144024 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2547144109 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3
RS2547144206 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2547144420 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2547144476 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2547145153 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2547145240 ATM Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2547145264 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2547145991 ATM Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2547146439 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2547146672 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2547146821 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2547146951 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2547147266 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2547147935 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2547148186 ATM Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2547148858 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2547148963 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3
RS2547149282 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3
RS2547149327 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2547149457 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2547155385 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2547155495 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2547155603 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2547155666 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3
RS2547155819 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3
RS2547155871 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2547156743 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3
RS2547159869 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3
RS2547159886 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3
RS2547159909 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3
RS2547160581 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2547160797 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3
RS2547161059 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2547161115 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2547161209 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2547162512 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2547163015 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2547163452 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2547164074 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2547164192 LRBA Health Risk Likely pathogenic Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS2547164531 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2547165117 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2547165221 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2547165271 LRBA Health Risk Likely pathogenic Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS2547181177 CEP63 Health Risk Likely pathogenic Seckel syndrome 6, Seckel syndrome 6
RS2547182699 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3
RS2547182728 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3
RS2547183062 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3
RS2547199342 ATM Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2547199448 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2547200504 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2547201049 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2547201218 ATM Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2547201432 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2547201590 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2547202086 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2547202099 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2547202255 ATM Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2547202277 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2547202550 ATM Health Risk Pathogenic Familial cancer of breast, Ataxia-telangiectasia syndrome
RS2547202789 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2547203128 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2547203226 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2547203424 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2547203609 ATM Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2547203724 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2547204242 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2547204620 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2547205149 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2547205608 ATM Health Risk Likely pathogenic —
RS2547205724 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2547205843 ATM Health Risk Likely pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2547206071 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2547206698 ZCCHC8 Health Risk Likely pathogenic Inherited acute myeloid leukemia, Inherited acute myeloid leukemia
RS2547207216 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2547207638 ATM Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS2547207668 ATM Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2547207738 ATM Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Ataxia-telangiectasia syndrome
RS2547213808 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS2547213859 ZCCHC8 Health Risk Likely pathogenic Dyskeratosis congenita, Dyskeratosis congenita
RS2547215072 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2547215212 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
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