Variant List

Listed below are all the variants used in our analysis. You can refine the list by using the panel below.
To see only proteins and their associated diseases, see page.

Refine Search

UniProtID
Disease name
Protein type
Variant type
Use data from

Show per page.

Statistics

Found 7392 SAVs (36.7 %)from  pleiotropic protein  and 12743 SAVs (63.3 %) from non-pleiotropic protein.

pleiotropic

15222  disease SAVs  (75.6 %) and 4913 non-disease (24.4 %).

disease

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 -