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
RS2517693712 KCTD17 Health Risk Pathogenic Myoclonic dystonia 26, Myoclonic dystonia 26
RS2517694033 COL18A1 Health Risk Pathogenic —
RS2517704639 CLDN5 Health Risk Likely pathogenic CLDN5-related neurodevelopmental disorder, CLDN5-related neurodevelopmental disorder
RS2517704673 CLDN5 Health Risk Pathogenic CLDN5-related neurodevelopmental disorder, Inborn genetic diseases
RS2517704684 CLDN5 Health Risk Likely pathogenic CLDN5-related neurodevelopmental disorder, CLDN5-related neurodevelopmental disorder
RS2517715126 COL18A1 Health Risk Pathogenic —
RS2517716669 MYO18B Health Risk Pathogenic —
RS2517724673 SMARCB1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2517725319 ITSN1 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2517726735 MYO18B Health Risk Likely pathogenic —
RS2517729144 DYM Health Risk Pathogenic —
RS2517730377 DYM Health Risk Pathogenic Dyggve-Melchior-Clausen syndrome, Dyggve-Melchior-Clausen syndrome
RS2517738284 DEPDC5 Health Risk Likely pathogenic Familial focal epilepsy with variable foci, Inborn genetic diseases
RS2517738978 DEPDC5 Health Risk Likely pathogenic Epilepsy, familial focal
RS2517748343 CHEK2 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2517749386 MN1 Health Risk Likely pathogenic CEBALID syndrome, CEBALID syndrome
RS2517749424 MN1 Health Risk Pathogenic CEBALID syndrome, CEBALID syndrome
RS2517755300 PDGFB Health Risk Likely pathogenic —
RS2517756784 PDGFB Health Risk Pathogenic Meningioma, Meningioma
RS2517756961 CHEK2 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2517757054 CHEK2 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2517757576 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2517757596 CHEK2 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2517757835 CHEK2 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2517758048 CHEK2 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2517758153 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2517758460 CHEK2 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2517758511 CHEK2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2517758542 AP1B1 Health Risk Pathogenic Autosomal recessive keratitis-ichthyosis-deafness syndrome, Autosomal recessive keratitis-ichthyosis-deafness syndrome
RS2517758757 CHEK2 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2517759734 PDGFB Health Risk Pathogenic —
RS2517759909 PDGFB Health Risk Pathogenic —
RS2517761949 PDGFB Health Risk Pathogenic —
RS2517767380 TRAPPC10 Health Risk Pathogenic NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SHORT STATURE
RS2517768538 TMPRSS6 Health Risk Likely pathogenic TMPRSS6-related disorder, TMPRSS6-related disorder
RS2517771244 MN1 Health Risk Pathogenic CEBALID syndrome, CEBALID syndrome
RS2517771777 MN1 Health Risk Likely pathogenic —
RS2517772878 MN1 Health Risk Likely pathogenic CEBALID syndrome, CEBALID syndrome
RS2517775597 COL18A1 Health Risk Likely pathogenic —
RS2517777409 PDGFB Health Risk Likely pathogenic —
RS2517781660 COL18A1 Health Risk Likely pathogenic —
RS2517783580 COL18A1 Health Risk Pathogenic —
RS2517783786 COL18A1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2517784498 CHEK2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2517786195 CHEK2 Health Risk Likely pathogenic Familial cancer of breast, CHEK2-related cancer predisposition
RS2517786270 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2517786596 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2517786697 CHEK2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2517786742 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2517788128 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2517788289 CHEK2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2517788605 CHEK2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2517788723 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2517791318 COL18A1 Health Risk Pathogenic —
RS2517791829 MYO18B Health Risk Likely pathogenic —
RS2517791841 COL18A1 Health Risk Pathogenic —
RS2517792090 MYO18B Health Risk Pathogenic —
RS2517792118 COL18A1 Health Risk Pathogenic —
RS2517792555 MYO18B Health Risk Pathogenic —
RS2517792936 MYO18B Health Risk Likely pathogenic —
RS2517794440 CHEK2 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2517794670 CHEK2 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2517794678 CHEK2 Health Risk Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2517794777 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2517795107 CHEK2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2517795259 COL18A1 Health Risk Likely pathogenic Knobloch syndrome 1, Knobloch syndrome 1
RS2517795343 CHEK2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2517795563 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2517795663 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2517795945 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2517796216 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2517796290 CHEK2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2517796451 DEPDC5 Health Risk Likely pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS2517796699 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2517796790 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2517796969 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2517797218 CHEK2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS2517797579 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2517797629 CHEK2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2517797695 EP300 Health Risk Likely pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS2517797752 EP300 Health Risk Pathogenic Neoplasm, Neoplasm
RS2517798130 CHEK2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2517798173 CHEK2 Health Risk Pathogenic Familial cancer of breast, CHEK2-related cancer predisposition
RS2517798223 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2517798366 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2517798392 CHEK2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2517798558 CHEK2 Health Risk Likely pathogenic Breast and/or ovarian cancer, Breast and/or ovarian cancer
RS2517798628 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2517798920 CHEK2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2517800433 EP300 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2517801658 EP300 Health Risk Likely pathogenic Menke-Hennekam syndrome 2, Menke-Hennekam syndrome 2
RS2517802211 COL18A1 Health Risk Pathogenic —
RS2517803465 COL18A1 Health Risk Pathogenic —
RS2517803661 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2517803682 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2517803819 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2517804321 GP1BB Health Risk Pathogenic Bernard Soulier syndrome, Bernard Soulier syndrome
RS2517804402 CHEK2 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2517804426 GP1BB Health Risk Likely pathogenic Bernard Soulier syndrome, Bernard Soulier syndrome
RS2517804845 CHEK2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
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