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
RS1555560140 G6PC1 Health Risk Likely pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
RS1555560149 G6PC1 Health Risk Likely pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
RS1555560185 G6PC1 Health Risk Likely pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
RS1555560204 G6PC1 Health Risk Pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
RS1555560637 CTNS Health Risk Likely pathogenic Nephropathic cystinosis, Nephropathic cystinosis
RS1555561048 CTNS Health Risk Likely pathogenic Nephropathic cystinosis, Ocular cystinosis
RS1555561049 CTNS Health Risk Likely pathogenic Nephropathic cystinosis, Ocular cystinosis
RS1555561294 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS1555562364 STAT3 Health Risk Likely pathogenic STAT3 gain of function, Hyper-IgE recurrent infection syndrome 1
RS1555562577 WDR81 Health Risk Likely pathogenic —
RS1555562830 CTNS Health Risk Likely pathogenic Nephropathic cystinosis, Nephropathic cystinosis
RS1555563010 CTNS Health Risk Likely pathogenic Nephropathic cystinosis, Nephropathic cystinosis
RS1555563441 CTNS Health Risk Pathogenic —
RS1555563446 CTNS Health Risk Pathogenic Nephropathic cystinosis, Ocular cystinosis
RS1555563521 CTNS Health Risk Likely pathogenic Nephropathic cystinosis, Nephropathic cystinosis
RS1555563568 CTNS Health Risk Likely pathogenic Nephropathic cystinosis, Nephropathic cystinosis
RS1555563658 CTNS Health Risk Likely pathogenic Nephropathic cystinosis, Nephropathic cystinosis
RS1555563717 STAT3 Health Risk Pathogenic/Likely pathogenic Hyper-IgE recurrent infection syndrome 1, autosomal dominant
RS1555563725 NEK8 Health Risk Pathogenic —
RS1555563787 NEK8 Health Risk Pathogenic Renal-hepatic-pancreatic dysplasia 2, Renal-hepatic-pancreatic dysplasia 2
RS1555563854 STAT3 Health Risk Pathogenic/Likely pathogenic STAT3 gain of function, Hyper-IgE recurrent infection syndrome 1
RS1555563871 STAT3 Health Risk Pathogenic Hyper-IgE recurrent infection syndrome 1, autosomal dominant
RS1555563981 EFTUD2 Health Risk Pathogenic —
RS1555563982 CTNS Health Risk Pathogenic Nephropathic cystinosis, Ocular cystinosis
RS1555563998 EFTUD2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555564006 EFTUD2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555564032 PMP22 Health Risk Likely pathogenic Charcot-Marie-Tooth disease, type IA
RS1555564040 PMP22 Health Risk Likely pathogenic Charcot-Marie-Tooth disease, type I
RS1555564050 PMP22 Health Risk Likely pathogenic —
RS1555564126 EFTUD2 Health Risk Likely pathogenic Mandibulofacial dysostosis-microcephaly syndrome, Mandibulofacial dysostosis-microcephaly syndrome
RS1555564134 NEK8 Health Risk Pathogenic Nephronophthisis 9, Nephronophthisis 9
RS1555564175 EFTUD2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555564214 NEK8 Health Risk Likely pathogenic Nephronophthisis 9, Nephronophthisis 9
RS1555564341 EFTUD2 Health Risk Pathogenic Mandibulofacial dysostosis-microcephaly syndrome, Mandibulofacial dysostosis-microcephaly syndrome
RS1555564436 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS1555564451 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS1555564487 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS1555564588 CTNS Health Risk Likely pathogenic Nephropathic cystinosis, Ocular cystinosis
RS1555564600 CTNS Health Risk Likely pathogenic Nephropathic cystinosis, Ocular cystinosis
RS1555564823 CTNS Health Risk Likely pathogenic Nephropathic cystinosis, Nephropathic cystinosis
RS1555565043 RAI1 Health Risk Conflicting classifications of pathogenicity —
RS1555565108 RAI1 Health Risk Likely pathogenic —
RS1555565162 EFTUD2 Health Risk Pathogenic —
RS1555565170 RAI1 Health Risk Likely pathogenic —
RS1555565243 RAI1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555565276 PMP22 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, type I
RS1555565283 PMP22 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, type I
RS1555565426 RAI1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555565492 RAI1 Health Risk Pathogenic Smith-Magenis syndrome, Smith-Magenis syndrome
RS1555565533 RAI1 Health Risk Pathogenic —
RS1555565595 STAT3 Health Risk Likely pathogenic —
RS1555565674 RAI1 Health Risk Pathogenic —
RS1555565772 EFTUD2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1555565774 EFTUD2 Health Risk Pathogenic Mandibulofacial dysostosis-microcephaly syndrome, Mandibulofacial dysostosis-microcephaly syndrome
RS1555565807 EFTUD2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555566042 RAI1 Health Risk Pathogenic Smith-Magenis syndrome, Smith-Magenis syndrome
RS1555566124 RAI1 Health Risk Pathogenic —
RS1555566164 RAI1 Health Risk Likely pathogenic —
RS1555566286 RAI1 Health Risk Conflicting classifications of pathogenicity —
RS1555566545 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Inborn genetic diseases
RS1555566820 STAT3 Health Risk Conflicting classifications of pathogenicity STAT3 gain of function, Hyper-IgE recurrent infection syndrome 1
RS1555566945 STAT3 Health Risk Likely pathogenic STAT3 gain of function, Hyper-IgE recurrent infection syndrome 1
RS1555566979 RAD51D Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS1555567076 RAD51D Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS1555567170 RAD51D Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS1555567197 RAD51D Health Risk Pathogenic Breast-ovarian cancer, familial
RS1555567202 RAD51D Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS1555567496 RAD51D Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS1555567529 RAD51D Health Risk Pathogenic Breast-ovarian cancer, familial
RS1555567586 RAD51D Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555567610 RAD51D Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS1555567649 RAD51D Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS1555568133 SGCA Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1555568139 TOP3A Health Risk Pathogenic Microcephaly, growth restriction
RS1555568159 RAD51D Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS1555568264 SGCA Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS1555568293 RAD51D Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS1555568296 RAD51D Health Risk Pathogenic Breast-ovarian cancer, familial
RS1555568301 RAD51D Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS1555568318 SGCA Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS1555568325 SGCA Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS1555568335 SGCA Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS1555568382 RAD51D Health Risk Pathogenic Breast-ovarian cancer, familial
RS1555568383 SGCA Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS1555568386 RAD51D Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS1555568392 RAD51D Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS1555568396 SGCA Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS1555568466 RAD51D Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS1555568469 RAD51D Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1555568473 RAD51D Health Risk Pathogenic Breast-ovarian cancer, familial
RS1555568475 PMP22 Health Risk Pathogenic Charcot-Marie-Tooth disease, type I
RS1555568514 RAD51D Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS1555568518 SGCA Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS1555568535 STAT3 Health Risk Conflicting classifications of pathogenicity STAT3 gain of function, Hyper-IgE recurrent infection syndrome 1
RS1555568575 TEX14 Health Risk Pathogenic Spermatogenic failure 23, Spermatogenic failure 23
RS1555568775 SGCA Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS1555568876 SGCA Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS1555568965 SGCA Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS1555569127 EFTUD2 Health Risk Likely pathogenic —
RS1555569283 EFTUD2 Health Risk Pathogenic —
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