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
RS2135763861 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2135764458 ATM Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2135765010 RASGRP2 Health Risk Likely pathogenic Platelet-type bleeding disorder 18, Platelet-type bleeding disorder 18
RS2135767002 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2135773055 WASHC4 Health Risk Pathogenic Intellectual disability, autosomal recessive 43
RS2135780423 RASGRP2 Health Risk Pathogenic Platelet-type bleeding disorder 18, Platelet-type bleeding disorder 18
RS2135782176 MYRF Health Risk Likely pathogenic Cardiac-urogenital syndrome, Cardiac-urogenital syndrome
RS2135782623 EHMT1 Health Risk Likely pathogenic —
RS2135783409 PC Health Risk Pathogenic/Likely pathogenic Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS2135784410 MYO7A Health Risk Pathogenic —
RS2135784846 EHMT1 Health Risk Pathogenic Kleefstra syndrome 1, Kleefstra syndrome 1
RS2135785388 PC Health Risk Pathogenic Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS2135785399 PC Health Risk Pathogenic Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS2135785787 EPS8 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 102, Autosomal recessive nonsyndromic hearing loss 102
RS2135785861 MYO7A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1
RS2135785880 MYO7A Health Risk Pathogenic Usher syndrome type 1, Usher syndrome type 1
RS2135786512 PC Health Risk Pathogenic Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS2135786710 PC Health Risk Pathogenic Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS2135788673 PC Health Risk Likely pathogenic Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS2135789146 PC Health Risk Pathogenic Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS2135790424 PC Health Risk Pathogenic Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS2135790890 MYO7A Health Risk Pathogenic —
RS2135791384 MYO7A Health Risk Pathogenic —
RS2135791416 PC Health Risk Likely pathogenic Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS2135791473 MYO7A Health Risk Pathogenic —
RS2135791768 MYRF Health Risk Likely pathogenic Cardiac-urogenital syndrome, Cardiac-urogenital syndrome
RS2135795582 PC Health Risk Pathogenic Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS2135797740 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2135797993 ATM Health Risk Pathogenic Familial cancer of breast, Ataxia-telangiectasia syndrome
RS2135798107 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2135798153 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2135798259 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2135798648 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2135798718 MYO7A Health Risk Pathogenic —
RS2135798786 MYO7A Health Risk Pathogenic Usher syndrome type 1, Hearing loss
RS2135798857 PC Health Risk Likely pathogenic Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS2135799043 MYO7A Health Risk Pathogenic —
RS2135799107 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2135799143 MYO7A Health Risk Pathogenic —
RS2135799845 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2135800044 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2135800153 PC Health Risk Pathogenic Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS2135801094 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2135801606 ATM Health Risk Pathogenic Abnormal central motor function, Familial cancer of breast
RS2135801723 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2135802014 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2135802501 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2135802675 MYO7A Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 2, Autosomal recessive nonsyndromic hearing loss 2
RS2135803326 PC Health Risk Pathogenic Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS2135804929 MYO7A Health Risk Pathogenic Usher syndrome type 1, Usher syndrome type 1
RS2135805319 DYNC2H1 Health Risk Likely pathogenic Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy
RS2135805611 PC Health Risk Likely pathogenic Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS2135806030 KRAS Health Risk Pathogenic Noonan syndrome 3, Noonan syndrome 3
RS2135806200 KRAS Health Risk Pathogenic —
RS2135806256 KRAS Health Risk Pathogenic —
RS2135806346 KRAS Health Risk Likely pathogenic RASopathy, RASopathy
RS2135809396 PC Health Risk Pathogenic Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS2135809766 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2135809793 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2135810015 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2135810142 PCDH15 Health Risk Pathogenic —
RS2135810212 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2135810742 PCDH15 Health Risk Pathogenic —
RS2135811484 ATM Health Risk Pathogenic Familial ovarian cancer, Familial ovarian cancer
RS2135812938 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2135813862 PC Health Risk Pathogenic Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS2135814096 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2135814786 PC Health Risk Pathogenic Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS2135818776 HNF1A Health Risk Pathogenic Maturity-onset diabetes of the young type 3, Monogenic diabetes
RS2135819325 HNF1A Health Risk Pathogenic Monogenic diabetes, Maturity-onset diabetes of the young
RS2135819349 HNF1A Health Risk Likely pathogenic Monogenic diabetes, Monogenic diabetes
RS2135819354 HNF1A Health Risk Pathogenic Monogenic diabetes, Monogenic diabetes
RS2135819368 HNF1A Health Risk Likely pathogenic Monogenic diabetes, Monogenic diabetes
RS2135819387 HNF1A Health Risk Pathogenic Monogenic diabetes, Monogenic diabetes
RS2135819400 HNF1A Health Risk Likely pathogenic Monogenic diabetes, Monogenic diabetes
RS2135819422 HNF1A Health Risk Likely pathogenic Monogenic diabetes, Monogenic diabetes
RS2135819438 HNF1A Health Risk Pathogenic Monogenic diabetes, Monogenic diabetes
RS2135819527 HNF1A Health Risk Pathogenic Monogenic diabetes, Monogenic diabetes
RS2135819552 HNF1A Health Risk Likely pathogenic Monogenic diabetes, Monogenic diabetes
RS2135819583 HNF1A Health Risk Likely pathogenic Monogenic diabetes, Monogenic diabetes
RS2135819653 HNF1A Health Risk Pathogenic —
RS2135819670 HNF1A Health Risk Pathogenic Monogenic diabetes, Monogenic diabetes
RS2135819704 HNF1A Health Risk Pathogenic Monogenic diabetes, Monogenic diabetes
RS2135819737 HNF1A Health Risk Likely pathogenic Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS2135819834 HNF1A Health Risk Pathogenic Monogenic diabetes, Monogenic diabetes
RS2135819895 HNF1A Health Risk Pathogenic Monogenic diabetes, Monogenic diabetes
RS2135819908 HNF1A Health Risk Likely pathogenic Monogenic diabetes, Monogenic diabetes
RS2135819929 HNF1A Health Risk Pathogenic Monogenic diabetes, Monogenic diabetes
RS2135819979 HNF1A Health Risk Likely pathogenic Monogenic diabetes, Monogenic diabetes
RS2135820197 HNF1A Health Risk Likely pathogenic Monogenic diabetes, Monogenic diabetes
RS2135820267 HNF1A Health Risk Likely pathogenic Monogenic diabetes, Monogenic diabetes
RS2135820404 HNF1A Health Risk Pathogenic Monogenic diabetes, Monogenic diabetes
RS2135820413 HNF1A Health Risk Likely pathogenic Monogenic diabetes, Maturity-onset diabetes of the young
RS2135820424 HNF1A Health Risk Pathogenic Monogenic diabetes, Monogenic diabetes
RS2135822119 PC Health Risk Likely pathogenic Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS2135822173 PC Health Risk Likely pathogenic Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS2135822512 PYGM Health Risk Pathogenic Glycogen storage disease, type V
RS2135822551 SHANK2 Health Risk Likely pathogenic Autism, susceptibility to
RS2135822918 SHANK2 Health Risk Pathogenic —
RS2135823216 PYGM Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type V
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