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
RS2145361853 RYR1 Health Risk Likely pathogenic Malignant hyperthermia, susceptibility to
RS2145363966 ASXL1 Health Risk Pathogenic —
RS2145364074 ASXL1 Health Risk Pathogenic —
RS2145365556 EEF2 Health Risk Likely pathogenic —
RS2145366125 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2145366579 NPC1 Health Risk Likely pathogenic Abnormality of metabolism/homeostasis, Abnormality of metabolism/homeostasis
RS2145366792 ADA Health Risk Pathogenic Severe combined immunodeficiency, autosomal recessive
RS2145366821 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2145366898 NPC1 Health Risk Pathogenic/Likely pathogenic Niemann-Pick disease, type C1
RS2145370503 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2145370569 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2145370732 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2145371777 LAMA3 Health Risk Pathogenic —
RS2145372935 ASXL1 Health Risk Pathogenic Bohring-Opitz syndrome, Bohring-Opitz syndrome
RS2145373524 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2145378067 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2145378239 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS2145378635 ASXL1 Health Risk Pathogenic —
RS2145381188 RYR1 Health Risk Likely pathogenic Malignant hyperthermia, susceptibility to
RS2145381556 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2145382111 NOTCH3 Health Risk Likely pathogenic —
RS2145392365 ASXL1 Health Risk Pathogenic —
RS2145393546 EPG5 Health Risk Pathogenic Vici syndrome, Vici syndrome
RS2145393963 RYR1 Health Risk Pathogenic/Likely pathogenic RYR1-related disorder, Centronuclear myopathy
RS2145394815 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS2145394955 NPC1 Health Risk Pathogenic/Likely pathogenic Niemann-Pick disease, type C1
RS2145400078 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2145400163 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS2145403032 ASXL3 Health Risk Pathogenic —
RS2145404496 STK11 Health Risk Pathogenic/Likely pathogenic Peutz-Jeghers syndrome, Melanoma
RS2145404947 STK11 Health Risk Pathogenic Peutz-Jeghers syndrome, Peutz-Jeghers syndrome
RS2145405064 STK11 Health Risk Pathogenic Peutz-Jeghers syndrome, Peutz-Jeghers syndrome
RS2145405118 STK11 Health Risk Pathogenic/Likely pathogenic Peutz-Jeghers syndrome, Peutz-Jeghers syndrome
RS2145405146 STK11 Health Risk Pathogenic Peutz-Jeghers syndrome, Peutz-Jeghers syndrome
RS2145405165 STK11 Health Risk Conflicting classifications of pathogenicity Peutz-Jeghers syndrome, Peutz-Jeghers syndrome
RS2145407506 LAMA3 Health Risk Pathogenic/Likely pathogenic Laryngo-onycho-cutaneous syndrome, Epidermolysis bullosa
RS2145410258 BRIP1 Health Risk Likely pathogenic Breast carcinoma, Breast carcinoma
RS2145411185 RTEL1 Health Risk Likely pathogenic Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS2145411193 RTEL1 Health Risk Pathogenic Dyskeratosis congenita, autosomal recessive 5
RS2145411302 RTEL1 Health Risk Pathogenic Dyskeratosis congenita, autosomal recessive 5
RS2145411399 RTEL1 Health Risk Pathogenic Dyskeratosis congenita, autosomal recessive 5
RS2145411479 RTEL1 Health Risk Pathogenic Dyskeratosis congenita, autosomal recessive 5
RS2145411718 ASXL3 Health Risk Pathogenic Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
RS2145411745 ASXL3 Health Risk Pathogenic —
RS2145412175 ASXL3 Health Risk Likely pathogenic Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
RS2145412437 ASXL3 Health Risk Pathogenic —
RS2145412626 RTEL1 Health Risk Likely pathogenic Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS2145413226 ASXL3 Health Risk Pathogenic Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
RS2145413424 ASXL3 Health Risk Likely pathogenic Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
RS2145413895 ASXL3 Health Risk Pathogenic Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
RS2145414039 BRIP1 Health Risk Pathogenic Fanconi anemia complementation group J, Familial cancer of breast
RS2145414409 ASXL3 Health Risk Likely pathogenic Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
RS2145414972 ASXL3 Health Risk Pathogenic/Likely pathogenic Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
RS2145416923 NOTCH3 Health Risk Likely pathogenic —
RS2145417422 SOX18 Health Risk Likely pathogenic —
RS2145417826 LAMA3 Health Risk Pathogenic Junctional epidermolysis bullosa, Junctional epidermolysis bullosa
RS2145417984 NOTCH3 Health Risk Likely pathogenic —
RS2145418962 NOTCH3 Health Risk Conflicting classifications of pathogenicity —
RS2145419704 GPI Health Risk Likely pathogenic Hemolytic anemia due to glucophosphate isomerase deficiency, Hemolytic anemia due to glucophosphate isomerase deficiency
RS2145420319 RTTN Health Risk Likely pathogenic Microcephaly, Microcephaly
RS2145420502 STK11 Health Risk Likely pathogenic Generalized juvenile polyposis/juvenile polyposis coli, Generalized juvenile polyposis/juvenile polyposis coli
RS2145420680 STK11 Health Risk Pathogenic Peutz-Jeghers syndrome, Peutz-Jeghers syndrome
RS2145420699 STK11 Health Risk Pathogenic Peutz-Jeghers syndrome, Peutz-Jeghers syndrome
RS2145420737 STK11 Health Risk Conflicting classifications of pathogenicity Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS2145420751 STK11 Health Risk Pathogenic Peutz-Jeghers syndrome, Peutz-Jeghers syndrome
RS2145420765 STK11 Health Risk Pathogenic Peutz-Jeghers syndrome, Peutz-Jeghers syndrome
RS2145420792 STK11 Health Risk Pathogenic Peutz-Jeghers syndrome, Peutz-Jeghers syndrome
RS2145420809 STK11 Health Risk Conflicting classifications of pathogenicity Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS2145421181 RTEL1 Health Risk Likely pathogenic Dyskeratosis congenita, autosomal recessive 5
RS2145422371 STK11 Health Risk Pathogenic Peutz-Jeghers syndrome, Peutz-Jeghers syndrome
RS2145422504 STK11 Health Risk Pathogenic Peutz-Jeghers syndrome, Peutz-Jeghers syndrome
RS2145422531 STK11 Health Risk Pathogenic Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS2145422618 EPG5 Health Risk Pathogenic Vici syndrome, Vici syndrome
RS2145422649 NOTCH3 Health Risk Likely pathogenic —
RS2145422675 NOTCH3 Health Risk Pathogenic Cerebral arteriopathy, autosomal dominant
RS2145423071 BRIP1 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group J, Familial cancer of breast
RS2145423153 ASXL3 Health Risk Pathogenic Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
RS2145423487 C3 Health Risk Likely pathogenic —
RS2145423515 ASXL3 Health Risk Pathogenic —
RS2145423783 NOTCH3 Health Risk Conflicting classifications of pathogenicity Cerebral arteriopathy, autosomal dominant
RS2145423903 ASXL3 Health Risk Likely pathogenic Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
RS2145424078 BRIP1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2145424105 STK11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
RS2145424136 STK11 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
RS2145424188 ASXL3 Health Risk Pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2145424194 STK11 Health Risk Pathogenic Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS2145424331 STK11 Health Risk Likely pathogenic Peutz-Jeghers syndrome, Peutz-Jeghers syndrome
RS2145424341 ASXL3 Health Risk Pathogenic Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
RS2145424620 STK11 Health Risk Pathogenic Peutz-Jeghers syndrome, Peutz-Jeghers syndrome
RS2145424635 STK11 Health Risk Pathogenic Peutz-Jeghers syndrome, Peutz-Jeghers syndrome
RS2145424658 STK11 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2145424662 STK11 Health Risk Likely pathogenic Peutz-Jeghers syndrome, Peutz-Jeghers syndrome
RS2145424716 STK11 Health Risk Pathogenic Peutz-Jeghers syndrome, Peutz-Jeghers syndrome
RS2145425021 STK11 Health Risk Pathogenic Peutz-Jeghers syndrome, Peutz-Jeghers syndrome
RS2145425088 ASXL3 Health Risk Pathogenic —
RS2145425162 STK11 Health Risk Pathogenic Peutz-Jeghers syndrome, Peutz-Jeghers syndrome
RS2145425286 STK11 Health Risk Pathogenic Peutz-Jeghers syndrome, Peutz-Jeghers syndrome
RS2145425465 ASXL3 Health Risk Pathogenic —
RS2145425479 ASXL3 Health Risk Pathogenic Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
RS2145425576 STK11 Health Risk Pathogenic Peutz-Jeghers syndrome, Peutz-Jeghers syndrome
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