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
RS2529015935 NBAS Health Risk Pathogenic —
RS2529017348 RFX5 Health Risk Pathogenic MHC class II deficiency 3, MHC class II deficiency 3
RS2529019322 RFX5 Health Risk Pathogenic MHC class II deficiency, MHC class II deficiency
RS2529019649 RFX5 Health Risk Pathogenic MHC class II deficiency, MHC class II deficiency
RS2529019979 LARS2 Health Risk Pathogenic —
RS2529020120 RFX5 Health Risk Pathogenic MHC class II deficiency, MHC class II deficiency
RS2529024443 RFX5 Health Risk Pathogenic MHC class II deficiency, MHC class II deficiency
RS2529027871 RFX5 Health Risk Likely pathogenic —
RS2529028222 RFX5 Health Risk Pathogenic MHC class II deficiency, MHC class II deficiency
RS2529029548 MSH2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2529029832 MSH2 Health Risk Likely pathogenic Uterine corpus cancer, Uterine corpus cancer
RS2529029888 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2529030066 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 1
RS2529030821 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2529031441 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1
RS2529031670 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2529031745 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2529031932 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2529032039 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2529032145 MSH2 Health Risk Pathogenic Lynch syndrome 1, Lynch syndrome 1
RS2529032801 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 1
RS2529033343 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2529033786 PPP1R21 Health Risk Pathogenic —
RS2529033839 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2529034008 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 1
RS2529034041 MSH2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2529034182 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2529034279 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2529034729 SOS1 Health Risk Likely pathogenic Noonan syndrome, Noonan syndrome
RS2529034770 SOS1 Health Risk Conflicting classifications of pathogenicity RASopathy, Noonan syndrome 4
RS2529035233 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2529035887 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2529036705 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2529036790 MSH2 Health Risk Pathogenic Lynch syndrome 1, Lynch syndrome 1
RS2529036943 SOS1 Health Risk Likely pathogenic Noonan syndrome, Noonan syndrome
RS2529037106 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2529037375 SOS1 Health Risk Pathogenic RASopathy, RASopathy
RS2529037472 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2529037535 SOS1 Health Risk Likely pathogenic —
RS2529037723 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS2529037843 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2529037917 SOS1 Health Risk Likely pathogenic RASopathy, RASopathy
RS2529037981 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS2529038228 MSH2 Health Risk Pathogenic Lynch syndrome 1, Lynch syndrome 1
RS2529038601 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2529038959 MSH2 Health Risk Pathogenic Lynch syndrome 1, Lynch syndrome 1
RS2529039115 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2529039319 MSH2 Health Risk Pathogenic Lynch syndrome 1, Lynch syndrome 1
RS2529040143 MSH2 Health Risk Pathogenic Lynch syndrome 1, Lynch syndrome 1
RS2529040595 RFX5 Health Risk Pathogenic MHC class II deficiency, MHC class II deficiency
RS2529040601 FYCO1 Health Risk Pathogenic Cataract 18, Cataract 18
RS2529044401 PPP1R21 Health Risk Pathogenic Neurodevelopmental disorder with hypotonia, facial dysmorphism
RS2529047720 RFX5 Health Risk Likely pathogenic MHC class II deficiency, MHC class II deficiency
RS2529048000 RFX5 Health Risk Likely pathogenic MHC class II deficiency, MHC class II deficiency
RS2529057646 NBAS Health Risk Pathogenic —
RS2529061466 KIF15 Health Risk Likely risk allele Pulmonary fibrosis, Pulmonary fibrosis
RS2529069818 MSH2 Health Risk Likely pathogenic Lynch syndrome 1, Lynch syndrome 1
RS2529069953 MSH2 Health Risk Likely pathogenic Lynch syndrome 1, Lynch syndrome 1
RS2529070364 MSH2 Health Risk Pathogenic Lynch syndrome 1, Lynch syndrome 1
RS2529071300 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2529071921 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2529075615 MSH2 Health Risk Pathogenic Gastric cancer, Gastric cancer
RS2529086363 EIF2AK3 Health Risk Conflicting classifications of pathogenicity Wolcott-Rallison dysplasia, Wolcott-Rallison dysplasia
RS2529089802 EIF2AK3 Health Risk Pathogenic —
RS2529097896 EIF2AK3 Health Risk Likely pathogenic —
RS2529098558 EIF2AK3 Health Risk Likely pathogenic Wolcott-Rallison dysplasia, Wolcott-Rallison dysplasia
RS2529098711 EIF2AK3 Health Risk Pathogenic —
RS2529100401 DPH2 Health Risk Likely pathogenic Developmental delay with short stature, dysmorphic facial features
RS2529102620 LARS2 Health Risk Likely pathogenic Perrault syndrome 4, Perrault syndrome 4
RS2529107216 ACAD9 Health Risk Pathogenic —
RS2529107245 ACAD9 Health Risk Likely pathogenic Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency
RS2529107282 ACAD9 Health Risk Likely pathogenic Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency
RS2529107329 ACAD9 Health Risk Likely pathogenic Mitochondrial complex I deficiency, Mitochondrial complex I deficiency
RS2529107343 ACAD9 Health Risk Pathogenic/Likely pathogenic Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency
RS2529109507 ANO10 Health Risk Pathogenic —
RS2529110370 ANO10 Health Risk Pathogenic —
RS2529116929 EIF2AK3 Health Risk Likely pathogenic Wolcott-Rallison dysplasia, Wolcott-Rallison dysplasia
RS2529117164 EIF2AK3 Health Risk Likely pathogenic Wolcott-Rallison dysplasia, Wolcott-Rallison dysplasia
RS2529117319 EIF2AK3 Health Risk Likely pathogenic —
RS2529117612 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2529118686 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2529126093 EIF2AK3 Health Risk Likely pathogenic Wolcott-Rallison dysplasia, Wolcott-Rallison dysplasia
RS2529126807 EIF2AK3 Health Risk Pathogenic/Likely pathogenic Wolcott-Rallison dysplasia, Wolcott-Rallison dysplasia
RS2529127466 EIF2AK3 Health Risk Pathogenic —
RS2529128780 EIF2AK3 Health Risk Likely pathogenic Wolcott-Rallison dysplasia, Wolcott-Rallison dysplasia
RS2529129420 EIF2AK3 Health Risk Likely pathogenic Wolcott-Rallison dysplasia, Wolcott-Rallison dysplasia
RS2529132935 EIF2AK3 Health Risk Pathogenic —
RS2529133062 EIF2AK3 Health Risk Pathogenic —
RS2529140086 EIF2AK3 Health Risk Likely pathogenic Wolcott-Rallison dysplasia, Wolcott-Rallison dysplasia
RS2529140205 EIF2AK3 Health Risk Pathogenic —
RS2529140255 EIF2AK3 Health Risk Pathogenic —
RS2529148991 EIF2AK3 Health Risk Pathogenic —
RS2529155350 PSMB4 Health Risk Conflicting classifications of pathogenicity —
RS2529157085 EIF2AK3 Health Risk Pathogenic —
RS2529165321 EIF2AK3 Health Risk Likely pathogenic Wolcott-Rallison dysplasia, Wolcott-Rallison dysplasia
RS2529165492 EIF2AK3 Health Risk Pathogenic —
RS2529165633 EIF2AK3 Health Risk Pathogenic —
RS2529170080 DCTN1 Health Risk Pathogenic Amyotrophic lateral sclerosis type 1, Perry syndrome
RS2529171218 EIF2AK3 Health Risk Likely pathogenic Wolcott-Rallison dysplasia, Wolcott-Rallison dysplasia
RS2529171945 EIF2AK3 Health Risk Likely pathogenic Wolcott-Rallison dysplasia, Wolcott-Rallison dysplasia
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