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
RS1558557341 ALPL Health Risk Pathogenic/Likely pathogenic Infantile hypophosphatasia, Hypophosphatasia
RS1558557428 ALPL Health Risk Pathogenic/Likely pathogenic Infantile hypophosphatasia, Hypophosphatasia
RS1558558976 ALPL Health Risk Pathogenic/Likely pathogenic Hypophosphatasia, Adult hypophosphatasia
RS1558560212 APOB Health Risk Likely pathogenic Hypercholesterolemia, autosomal dominant
RS1558562316 APOB Health Risk Pathogenic Hypercholesterolemia, autosomal dominant
RS1558564161 APOB Health Risk Pathogenic/Likely pathogenic Hypercholesterolemia, autosomal dominant
RS1558565733 APOB Health Risk Likely pathogenic —
RS1558568116 TTC7A Health Risk Pathogenic/Likely pathogenic Multiple gastrointestinal atresias, Multiple gastrointestinal atresias
RS1558569964 KCNH1 Health Risk Likely pathogenic —
RS1558570102 KCNH1 Health Risk Likely pathogenic KCNH1-related phenotype, KCNH1-related phenotype
RS1558572491 SFTPB Health Risk Pathogenic Surfactant metabolism dysfunction, pulmonary
RS1558583697 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS1558584694 DYSF Health Risk Likely pathogenic Abnormality of the musculature, Miyoshi muscular dystrophy 1
RS1558599953 MPV17 Health Risk Pathogenic/Likely pathogenic Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), Charcot-Marie-Tooth disease
RS1558603396 CYP1B1 Health Risk Likely pathogenic Glaucoma 3A, Anterior segment dysgenesis 6
RS1558605460 SPAST Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 4, Inborn genetic diseases
RS1558605758 SPAST Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS1558606204 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS1558610072 NRXN1 Health Risk Pathogenic/Likely pathogenic Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2
RS1558612412 BCL11A Health Risk Pathogenic/Likely pathogenic Dias-Logan syndrome, Congenital cerebellar hypoplasia
RS1558613592 DYSF Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi muscular dystrophy 1
RS1558626238 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS1558626541 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS1558628852 POMC Health Risk Pathogenic —
RS1558639105 ALMS1 Health Risk Pathogenic —
RS1558639213 ALMS1 Health Risk Pathogenic —
RS1558642193 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1558644683 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 5
RS1558644886 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS1558644995 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Gastric cancer
RS1558645097 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome
RS1558645195 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 5
RS1558645379 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Endometrial carcinoma
RS1558647785 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1558648189 ALMS1 Health Risk Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS1558648759 ALMS1 Health Risk Pathogenic/Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS1558649531 ALMS1 Health Risk Pathogenic/Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS1558650 IL18RAP Health Risk association Ascending aortic dissection, Ascending aortic dissection
RS1558650352 DGUOK Health Risk Pathogenic —
RS1558650438 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1558650788 DNMT3A Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS1558650888 DNMT3A Health Risk Likely pathogenic Glioblastoma, Glioblastoma
RS1558651349 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1558651680 ALMS1;ALMS1-IT1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1558651835 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome 5
RS1558651950 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS1558652014 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1558652941 EIF2AK3 Health Risk Pathogenic/Likely pathogenic Wolcott-Rallison dysplasia, Wolcott-Rallison dysplasia
RS1558653090 DNMT3A Health Risk Likely pathogenic Tatton-Brown-Rahman overgrowth syndrome, Tatton-Brown-Rahman overgrowth syndrome
RS1558655052 EIF2AK3 Health Risk Pathogenic —
RS1558655670 LBR Health Risk Pathogenic RHIZOMELIC SKELETAL DYSPLASIA WITH PELGER-HUET ANOMALY, RHIZOMELIC SKELETAL DYSPLASIA WITH PELGER-HUET ANOMALY
RS1558656674 MSH6 Health Risk Likely pathogenic Ovarian neoplasm, Ovarian neoplasm
RS1558658971 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS1558658980 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS1558659056 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1558659265 MSH6 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1558659626 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1558659699 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1558659961 MSH6 Health Risk Conflicting classifications of pathogenicity Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1558660575 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS1558660612 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1558661242 MSH6 Health Risk Conflicting classifications of pathogenicity Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1558661308 MSH6 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 5
RS1558661368 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS1558661380 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1558661506 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1558661556 MSH6 Health Risk Conflicting classifications of pathogenicity Lynch syndrome, Lynch syndrome 5
RS1558661621 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1558661782 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 5
RS1558661873 MSH6 Health Risk Pathogenic Ovarian neoplasm, Ovarian neoplasm
RS1558661932 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1558662873 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1558663439 MSH6 Health Risk Conflicting classifications of pathogenicity Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1558663559 MSH6 Health Risk Pathogenic/Likely pathogenic Lynch syndrome 5, Endometrial carcinoma
RS1558663954 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1558664035 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1558664251 MSH6 Health Risk Pathogenic Ovarian neoplasm, Ovarian neoplasm
RS1558664335 MSH6 Health Risk Pathogenic/Likely pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS1558664474 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1558664787 MSH6 Health Risk Likely pathogenic Lynch syndrome 1, Lynch syndrome 1
RS1558665297 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1558665485 DNMT3A Health Risk Pathogenic/Likely pathogenic Tatton-Brown-Rahman overgrowth syndrome, Tatton-Brown-Rahman overgrowth syndrome
RS1558665602 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1558666061 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1558666177 MSH6 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 5
RS1558666445 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1558666591 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 5
RS1558666660 MSH6 Health Risk Pathogenic Lynch syndrome 5, Hereditary cancer-predisposing syndrome
RS1558666905 MSH6 Health Risk Pathogenic Ovarian neoplasm, Hereditary cancer-predisposing syndrome
RS1558667222 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 5
RS1558667523 MSH6 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 5
RS1558667779 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1558667813 ALMS1 Health Risk Pathogenic Alstrom syndrome, Cardiovascular phenotype
RS1558667882 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1558668156 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1558668258 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 5
RS1558669897 DNMT3A Health Risk Pathogenic Tatton-Brown-Rahman overgrowth syndrome, Tatton-Brown-Rahman overgrowth syndrome
RS1558669964 DNMT3A Health Risk Pathogenic Tatton-Brown-Rahman overgrowth syndrome, Tatton-Brown-Rahman overgrowth syndrome
RS1558671136 DNMT3A Health Risk Pathogenic Tatton-Brown-Rahman overgrowth syndrome, Tatton-Brown-Rahman overgrowth syndrome
RS1558674294 XDH Health Risk Pathogenic Xanthinuria type II, Xanthinuria type II
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