Found 7392 SAVs (36.7 %)from pleiotropic protein and 12743 SAVs (63.3 %) from non-pleiotropic protein.
15222 disease SAVs (75.6 %) and 4913 non-disease (24.4 %).
20135 items found (page 63 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
P42771 | pleiotropic | VAR_001437 | p.Asn71Lys | Disease | - | - | Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601] |
P42771 | pleiotropic | VAR_012317 | p.Arg87Trp | Disease | - | - | Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601] |
P42771 | pleiotropic | VAR_001454 | p.Gly89Ser | Disease | - | - | Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601] |
P42771 | pleiotropic | VAR_001418 | p.Gly35Ala | Disease | - | - | Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601] |
P42771 | pleiotropic | VAR_001413 | p.Arg24Cys | Disease | - | - | Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601] |
P42771 | pleiotropic | VAR_001479 | p.Val126Asp | Disease | - | - | Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601] |
P42771 | pleiotropic | VAR_001451 | p.Arg87Pro | Disease | - | - | Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601] |
P42771 | pleiotropic | VAR_015818 | p.Ala102Glu | Disease | - | - | Li-Fraumeni syndrome (LFS) [MIM:151623] |
P42771 | pleiotropic | VAR_058557 | p.Arg80Pro | Disease | - | - | Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601] |
P42771 | pleiotropic | VAR_001430 | p.Leu62Pro | Disease | - | - | Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601] |
P42771 | pleiotropic | VAR_053027 | p.Arg58Gln | Non-Disease | rs36204273 | - | - |
P42771 | pleiotropic | VAR_001434 | p.Ala68Val | Non-Disease | - | - | - |
P42771 | pleiotropic | VAR_001466 | p.Arg107Cys | Disease | - | - | Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601] |
P42771 | pleiotropic | VAR_001424 | p.Met53Ile | Disease | - | - | Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601] |
P42771 | pleiotropic | VAR_058558 | p.Pro81Thr | Disease | - | - | Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601] |
P42771 | pleiotropic | VAR_001458 | p.His98Pro | Disease | - | - | Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601] |
P42771 | pleiotropic | VAR_058551 | p.Gly35Val | Disease | - | - | Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601] |
P42771 | pleiotropic | VAR_058556 | p.Thr77Pro | Disease | - | - | Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601] |
P42771 | pleiotropic | VAR_001449 | p.Asp84Tyr | Disease | rs11552822 | - | Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601] |
P42771 | pleiotropic | VAR_023604 | p.Leu94Gln | Disease | - | - | Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601] |
P42771 | pleiotropic | VAR_001438 | p.Asn71Ser | Non-Disease | - | - | - |
P42771 | pleiotropic | VAR_058555 | p.Asp74Tyr | Disease | - | - | Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601] |
P42771 | pleiotropic | VAR_001427 | p.Val59Gly | Disease | - | - | Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601] |
P42771 | pleiotropic | VAR_001450 | p.Ala85Thr | Non-Disease | - | - | - |
P42771 | pleiotropic | VAR_001419 | p.Gly35Glu | Disease | - | - | Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601] |
P42771 | pleiotropic | VAR_001425 | p.Ser56Ile | Non-Disease | - | - | - |
P42771 | pleiotropic | VAR_058553 | p.Gly67Arg | Disease | - | - | Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601] |
P42771 | pleiotropic | VAR_001471 | p.Leu117Met | Disease | - | - | Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601] |
P42771 | pleiotropic | VAR_001416 | p.Leu32Pro | Disease | - | - | Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601] |
P42771 | pleiotropic | VAR_001467 | p.Arg107His | Non-Disease | - | - | - |
P42771 | pleiotropic | VAR_053032 | p.Arg124Cys | Non-Disease | rs34170727 | 0.0008 | - |
P42771 | pleiotropic | VAR_001414 | p.Arg24Pro | Disease | - | - | Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601] |
P42771 | pleiotropic | VAR_001459 | p.His98Gln | Disease | - | - | Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601] |
P42771 | pleiotropic | VAR_001464 | p.Gly101Trp | Disease | - | - | Familial atypical multiple mole melanoma-pancreatic carcinoma syndrome (FAMMMPC) [MIM:606719] Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601] |
P42771 | pleiotropic | VAR_001486 | p.Ala148Thr | Non-Disease | rs3731249 | 0.007 | - |
Q16667 | non-pleiotropic | VAR_013845 | p.Asn91Lys | Disease | - | - | Hepatocellular carcinoma (HCC) [MIM:114550] |
Q16667 | non-pleiotropic | VAR_013843 | p.Phe78Leu | Disease | - | - | Hepatocellular carcinoma (HCC) [MIM:114550] |
Q16667 | non-pleiotropic | VAR_013849 | p.Asn187Ser | Disease | - | - | Hepatocellular carcinoma (HCC) [MIM:114550] |
Q16667 | non-pleiotropic | VAR_013846 | p.Asp94Val | Disease | - | - | Hepatocellular carcinoma (HCC) [MIM:114550] |
Q16667 | non-pleiotropic | VAR_013844 | p.Cys79Tyr | Disease | - | - | Hepatocellular carcinoma (HCC) [MIM:114550] |
Q16667 | non-pleiotropic | VAR_013847 | p.Leu95Phe | Disease | - | - | Hepatocellular carcinoma (HCC) [MIM:114550] |
Q16667 | non-pleiotropic | VAR_013850 | p.Lys195Ile | Disease | - | - | Hepatocellular carcinoma (HCC) [MIM:114550] |
Q16667 | non-pleiotropic | VAR_013848 | p.Ile108Val | Disease | rs144479038 | 0.0004 | Hepatocellular carcinoma (HCC) [MIM:114550] |
Q16667 | non-pleiotropic | VAR_051769 | p.Ser159Phe | Non-Disease | rs1803843 | - | - |
Q16667 | non-pleiotropic | VAR_013842 | p.Trp31Arg | Disease | - | - | Hepatocellular carcinoma (HCC) [MIM:114550] |
Q4KMG0 | non-pleiotropic | VAR_066499 | p.Val691Met | Disease | - | - | Holoprosencephaly 11 (HPE11) [MIM:614226] |
Q4KMG0 | non-pleiotropic | VAR_066502 | p.Ser940Arg | Disease | - | - | Holoprosencephaly 11 (HPE11) [MIM:614226] |
Q4KMG0 | non-pleiotropic | VAR_056039 | p.Glu162Lys | Non-Disease | rs3740909 | 0.1079 | - |
Q4KMG0 | non-pleiotropic | VAR_066500 | p.Val780Glu | Disease | - | - | Holoprosencephaly 11 (HPE11) [MIM:614226] |
Q4KMG0 | non-pleiotropic | VAR_056038 | p.Lys66Arg | Non-Disease | rs7122277 | 0.0161 | - |