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
RS1064795307 CARD11 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 11b with atopic dermatitis, Severe combined immunodeficiency due to CARD11 deficiency
RS1064795308 ATP8A2 Health Risk Pathogenic —
RS1064795309 ATP8A2 Health Risk Likely pathogenic —
RS1064795310 CD36 Health Risk Likely pathogenic —
RS1064795312 MECP2 Health Risk Conflicting classifications of pathogenicity Severe neonatal-onset encephalopathy with microcephaly, Severe neonatal-onset encephalopathy with microcephaly
RS1064795317 KRT2 Health Risk Conflicting classifications of pathogenicity KRT2-related disorder, KRT2-related disorder
RS1064795320 FH Health Risk Pathogenic/Likely pathogenic Hereditary leiomyomatosis and renal cell cancer, Hereditary leiomyomatosis and renal cell cancer
RS1064795322 ATP2B2 Health Risk Likely pathogenic ATP2B2-related disorder, Hearing loss
RS1064795323 DDX3X Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 102
RS1064795324 IQSEC2 Health Risk Likely pathogenic —
RS1064795329 MSH2 Health Risk Pathogenic/Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1064795331 SYNGAP1 Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal dominant 5
RS1064795333 KCNQ1 Health Risk Pathogenic/Likely pathogenic Long QT syndrome, Long QT syndrome
RS1064795334 TUBB2A Health Risk Pathogenic/Likely pathogenic Complex cortical dysplasia with other brain malformations 5, Tubulinopathy
RS1064795335 USP9X Health Risk Likely pathogenic —
RS1064795337 GRIN1 Health Risk Likely pathogenic —
RS1064795340 KMT2A Health Risk Pathogenic —
RS1064795341 MLH1 Health Risk Pathogenic/Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Colorectal cancer
RS1064795342 MED25 Health Risk Likely pathogenic —
RS1064795343 TYR Health Risk Conflicting classifications of pathogenicity —
RS1064795345 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 4
RS1064795346 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1064795350 FLNA Health Risk Pathogenic —
RS1064795352 BRIP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1064795355 SCN1A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 6B, Developmental and epileptic encephalopathy 6B
RS1064795358 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1064795360 DNM1 Health Risk Likely pathogenic —
RS1064795361 POLD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS1064795363 SLC2A1 Health Risk Conflicting classifications of pathogenicity GLUT1 deficiency syndrome 1, autosomal recessive
RS1064795369 TP53 Health Risk Likely pathogenic Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS1064795372 IL1RAPL1 Health Risk Likely pathogenic IL1RAPL1-related disorder, IL1RAPL1-related disorder
RS1064795376 OTOF Health Risk Likely pathogenic —
RS1064795382 ZBTB20 Health Risk Likely pathogenic Inborn genetic diseases, See cases
RS1064795384 GNAO1 Health Risk Pathogenic/Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS1064795385 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Colorectal cancer
RS1064795387 DDX3X Health Risk Pathogenic/Likely pathogenic Intellectual disability, X-linked 102
RS1064795388 PUF60 Health Risk Likely pathogenic 8q24.3 microdeletion syndrome, 8q24.3 microdeletion syndrome
RS1064795391 SOX10 Health Risk Likely pathogenic —
RS1064795392 SLC6A1 Health Risk Likely pathogenic —
RS1064795394 ATM Health Risk Likely pathogenic —
RS1064795399 TTN Health Risk Likely pathogenic —
RS1064795400 PIGL Health Risk Likely pathogenic —
RS1064795403 ATP1A3 Health Risk Conflicting classifications of pathogenicity Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome, Dystonia 12
RS1064795405 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1064795407 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1064795409 SCN4A Health Risk Pathogenic/Likely pathogenic Hyperkalemic periodic paralysis, Hyperkalemic periodic paralysis
RS1064795410 KCNE1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS1064795411 GLRA1 Health Risk Conflicting classifications of pathogenicity Hereditary hyperekplexia, Hereditary hyperekplexia
RS1064795413 BRIP1 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS1064795417 TUBA1A Health Risk Likely pathogenic Tubulinopathy, Tubulinopathy
RS1064795419 PORCN Health Risk Likely pathogenic —
RS1064795421 IQSEC2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 1
RS1064795422 DYRK1A Health Risk Likely pathogenic —
RS1064795423 NALCN Health Risk Pathogenic —
RS1064795428 PURA Health Risk Likely pathogenic —
RS1064795429 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1064795431 SAMD9 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, MIRAGE syndrome
RS1064795433 SLC37A4 Health Risk Likely pathogenic —
RS1064795434 TP53 Health Risk Pathogenic/Likely pathogenic Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS1064795435 KCNQ2 Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS1064795438 RB1 Health Risk Likely pathogenic —
RS1064795441 MLH1 Health Risk Pathogenic/Likely pathogenic Colorectal cancer, hereditary nonpolyposis
RS1064795443 TCF4 Health Risk Likely pathogenic —
RS1064795444 GABRB2 Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS1064795446 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS1064795447 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1064795448 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1064795449 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1064795450 PTEN Health Risk Conflicting classifications of pathogenicity PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome
RS1064795451 LAMA2 Health Risk Likely pathogenic —
RS1064795455 GRIN1 Health Risk Likely pathogenic —
RS1064795456 STS Health Risk Conflicting classifications of pathogenicity —
RS1064795460 IQSEC2 Health Risk Likely pathogenic —
RS1064795463 POGZ Health Risk Conflicting classifications of pathogenicity —
RS1064795464 LAMA1 Health Risk Likely pathogenic —
RS1064795465 PURA Health Risk Pathogenic —
RS1064795467 ATM Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1064795468 ITGB4 Health Risk Conflicting classifications of pathogenicity —
RS1064795469 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS1064795471 NBAS Health Risk Pathogenic/Likely pathogenic Short stature-optic atrophy-Pelger-Huët anomaly syndrome, Infantile liver failure syndrome 2
RS1064795475 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1064795478 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1064795480 MUTYH Health Risk Pathogenic/Likely pathogenic Familial adenomatous polyposis 2, Familial adenomatous polyposis 2
RS1064795484 SMPD1 Health Risk Likely pathogenic —
RS1064795487 CHEK2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1064795488 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1064795489 KCNQ2 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 7
RS1064795490 AUTS2 Health Risk Likely pathogenic —
RS1064795492 NF1 Health Risk Likely pathogenic —
RS1064795493 NRXN1 Health Risk Likely pathogenic —
RS1064795496 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1064795497 ANKRD11 Health Risk Pathogenic/Likely pathogenic KBG syndrome, KBG syndrome
RS1064795500 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS1064795507 PALB2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1064795508 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1064795511 PCDH19 Health Risk Likely pathogenic —
RS1064795512 IQSEC2 Health Risk Likely pathogenic Intellectual disability, X-linked 1
RS1064795513 PDE11A Health Risk Likely pathogenic —
RS1064795514 PALB2 Health Risk Likely pathogenic Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1064795515 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Colorectal cancer
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