| Sequence Name | Change(s) |
|---|---|
| GRCh38.p7 chr 12 | NC_000012.12:g.112469078dup |
| GRCh37.p13 chr 12 | NC_000012.11:g.112906882dup |
| PTPN11 RefSeqGene | LRG_614 |
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| PTPN11 transcript variant 1 | NM_002834.3:c. | N/A | Intron Variant |
| PTPN11 transcript variant 2 | NM_080601.1:c. | N/A | Intron Variant |
| PTPN11 transcript variant X1 | XM_006719526.2:c. | N/A | Intron Variant |
| PTPN11 transcript variant X1 | XM_011538613.2:c. | N/A | Intron Variant |
| PTPN11 transcript variant X2 | XM_017019722.1:c. | N/A | Intron Variant |
| Study | Population | Group | Sample # | Ref Allele | Alt Allele |
|---|---|---|---|---|---|
| 1000Genomes | African | Sub | 1322 | (A)9=0.999 | dupA=0.001 |
| 1000Genomes | American | Sub | 694 | (A)9=1.000 | dupA=0.000 |
| 1000Genomes | East Asian | Sub | 1008 | (A)9=0.827 | dupA=0.173 |
| 1000Genomes | Europe | Sub | 1006 | (A)9=1.000 | dupA=0.000 |
| 1000Genomes | Global | Study-wide | 5008 | (A)9=0.964 | dupA=0.036 |
| 1000Genomes | South Asian | Sub | 978 | (A)9=1.000 | dupA=0.000 |
| Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | (A)9=0.999 | dupA=0.000 |
| PMID | Title | Author | Journal |
|---|---|---|---|
| 29460428 | Genomewide Association Study of Alcohol Dependence and Related Traits in a Thai Population. | Gelernter J | Alcohol Clin Exp Res |
| SNP ID | p-value | Traits | Study |
|---|---|---|---|
| rs143894582 | 2E-14 | response to alcohol | 29460428 |
| Position (v37) | eGene | GeneID | Variant | p-value | TSS | Tissue | |
|---|---|---|---|---|---|---|---|
| There is no eQTL annotation for this SNP | |||||||
| Probe ID | Position | Gene | beta | p-value | |||
|---|---|---|---|---|---|---|---|
| There is no meQTL annotation for this SNP | |||||||
There is no significant Hi-C chromatin interaction data for this SNP.
| Chromosome | Start | End | Region | Distance ( -/+ : Up/Downstream ) |
|---|---|---|---|---|
| chr12 | 112860204 | 112860850 | E067 | -46032 |
| chr12 | 112860940 | 112860996 | E067 | -45886 |
| chr12 | 112861924 | 112861968 | E067 | -44914 |
| chr12 | 112862199 | 112862287 | E067 | -44595 |
| chr12 | 112862406 | 112862502 | E067 | -44380 |
| chr12 | 112862576 | 112862651 | E067 | -44231 |
| chr12 | 112862897 | 112862951 | E067 | -43931 |
| chr12 | 112874393 | 112874443 | E067 | -32439 |
| chr12 | 112903575 | 112904210 | E067 | -2672 |
| chr12 | 112910964 | 112911103 | E067 | 4082 |
| chr12 | 112911131 | 112911235 | E067 | 4249 |
| chr12 | 112918569 | 112919271 | E067 | 11687 |
| chr12 | 112919514 | 112919686 | E067 | 12632 |
| chr12 | 112920730 | 112920780 | E067 | 13848 |
| chr12 | 112924717 | 112924767 | E067 | 17835 |
| chr12 | 112926262 | 112926641 | E067 | 19380 |
| chr12 | 112926968 | 112927862 | E067 | 20086 |
| chr12 | 112956451 | 112956507 | E067 | 49569 |
| chr12 | 112956509 | 112956559 | E067 | 49627 |
| chr12 | 112858211 | 112858261 | E068 | -48621 |
| chr12 | 112861924 | 112861968 | E068 | -44914 |
| chr12 | 112862199 | 112862287 | E068 | -44595 |
| chr12 | 112862406 | 112862502 | E068 | -44380 |
| chr12 | 112862576 | 112862651 | E068 | -44231 |
| chr12 | 112862897 | 112862951 | E068 | -43931 |
| chr12 | 112863641 | 112863691 | E068 | -43191 |
| chr12 | 112888860 | 112888928 | E068 | -17954 |
| chr12 | 112903575 | 112904210 | E068 | -2672 |
| chr12 | 112908128 | 112908202 | E068 | 1246 |
| chr12 | 112908223 | 112908422 | E068 | 1341 |
| chr12 | 112908452 | 112908547 | E068 | 1570 |
| chr12 | 112910964 | 112911103 | E068 | 4082 |
| chr12 | 112911131 | 112911235 | E068 | 4249 |
| chr12 | 112918569 | 112919271 | E068 | 11687 |
| chr12 | 112919514 | 112919686 | E068 | 12632 |
| chr12 | 112920730 | 112920780 | E068 | 13848 |
| chr12 | 112925951 | 112926033 | E068 | 19069 |
| chr12 | 112926262 | 112926641 | E068 | 19380 |
| chr12 | 112926968 | 112927862 | E068 | 20086 |
| chr12 | 112935344 | 112935490 | E068 | 28462 |
| chr12 | 112955344 | 112955430 | E068 | 48462 |
| chr12 | 112955494 | 112955574 | E068 | 48612 |
| chr12 | 112858211 | 112858261 | E069 | -48621 |
| chr12 | 112858451 | 112858548 | E069 | -48334 |
| chr12 | 112858554 | 112858777 | E069 | -48105 |
| chr12 | 112858875 | 112858942 | E069 | -47940 |
| chr12 | 112860204 | 112860850 | E069 | -46032 |
| chr12 | 112860940 | 112860996 | E069 | -45886 |
| chr12 | 112861924 | 112861968 | E069 | -44914 |
| chr12 | 112862199 | 112862287 | E069 | -44595 |
| chr12 | 112862406 | 112862502 | E069 | -44380 |
| chr12 | 112862576 | 112862651 | E069 | -44231 |
| chr12 | 112874393 | 112874443 | E069 | -32439 |
| chr12 | 112874497 | 112874602 | E069 | -32280 |
| chr12 | 112903575 | 112904210 | E069 | -2672 |
| chr12 | 112907944 | 112908021 | E069 | 1062 |
| chr12 | 112908044 | 112908084 | E069 | 1162 |
| chr12 | 112918569 | 112919271 | E069 | 11687 |
| chr12 | 112919514 | 112919686 | E069 | 12632 |
| chr12 | 112920730 | 112920780 | E069 | 13848 |
| chr12 | 112923130 | 112923180 | E069 | 16248 |
| chr12 | 112924717 | 112924767 | E069 | 17835 |
| chr12 | 112925951 | 112926033 | E069 | 19069 |
| chr12 | 112926262 | 112926641 | E069 | 19380 |
| chr12 | 112926968 | 112927862 | E069 | 20086 |
| chr12 | 112935344 | 112935490 | E069 | 28462 |
| chr12 | 112941348 | 112941727 | E069 | 34466 |
| chr12 | 112955344 | 112955430 | E069 | 48462 |
| chr12 | 112955494 | 112955574 | E069 | 48612 |
| chr12 | 112955721 | 112955783 | E069 | 48839 |
| chr12 | 112955803 | 112956164 | E069 | 48921 |
| chr12 | 112956273 | 112956402 | E069 | 49391 |
| chr12 | 112956451 | 112956507 | E069 | 49569 |
| chr12 | 112956509 | 112956559 | E069 | 49627 |
| chr12 | 112956591 | 112956677 | E069 | 49709 |
| chr12 | 112858554 | 112858777 | E070 | -48105 |
| chr12 | 112926262 | 112926641 | E070 | 19380 |
| chr12 | 112926968 | 112927862 | E070 | 20086 |
| chr12 | 112928068 | 112928153 | E070 | 21186 |
| chr12 | 112935008 | 112935077 | E070 | 28126 |
| chr12 | 112935344 | 112935490 | E070 | 28462 |
| chr12 | 112858211 | 112858261 | E071 | -48621 |
| chr12 | 112858451 | 112858548 | E071 | -48334 |
| chr12 | 112858554 | 112858777 | E071 | -48105 |
| chr12 | 112858875 | 112858942 | E071 | -47940 |
| chr12 | 112861924 | 112861968 | E071 | -44914 |
| chr12 | 112862199 | 112862287 | E071 | -44595 |
| chr12 | 112862406 | 112862502 | E071 | -44380 |
| chr12 | 112862576 | 112862651 | E071 | -44231 |
| chr12 | 112874393 | 112874443 | E071 | -32439 |
| chr12 | 112874497 | 112874602 | E071 | -32280 |
| chr12 | 112877668 | 112877900 | E071 | -28982 |
| chr12 | 112900606 | 112900708 | E071 | -6174 |
| chr12 | 112903575 | 112904210 | E071 | -2672 |
| chr12 | 112918569 | 112919271 | E071 | 11687 |
| chr12 | 112919514 | 112919686 | E071 | 12632 |
| chr12 | 112920730 | 112920780 | E071 | 13848 |
| chr12 | 112925408 | 112925448 | E071 | 18526 |
| chr12 | 112926262 | 112926641 | E071 | 19380 |
| chr12 | 112926968 | 112927862 | E071 | 20086 |
| chr12 | 112935008 | 112935077 | E071 | 28126 |
| chr12 | 112935344 | 112935490 | E071 | 28462 |
| chr12 | 112941005 | 112941055 | E071 | 34123 |
| chr12 | 112941165 | 112941215 | E071 | 34283 |
| chr12 | 112941348 | 112941727 | E071 | 34466 |
| chr12 | 112955344 | 112955430 | E071 | 48462 |
| chr12 | 112955494 | 112955574 | E071 | 48612 |
| chr12 | 112955721 | 112955783 | E071 | 48839 |
| chr12 | 112955803 | 112956164 | E071 | 48921 |
| chr12 | 112956273 | 112956402 | E071 | 49391 |
| chr12 | 112956451 | 112956507 | E071 | 49569 |
| chr12 | 112956509 | 112956559 | E071 | 49627 |
| chr12 | 112956591 | 112956677 | E071 | 49709 |
| chr12 | 112858211 | 112858261 | E072 | -48621 |
| chr12 | 112858451 | 112858548 | E072 | -48334 |
| chr12 | 112858554 | 112858777 | E072 | -48105 |
| chr12 | 112858875 | 112858942 | E072 | -47940 |
| chr12 | 112861924 | 112861968 | E072 | -44914 |
| chr12 | 112862199 | 112862287 | E072 | -44595 |
| chr12 | 112862406 | 112862502 | E072 | -44380 |
| chr12 | 112862576 | 112862651 | E072 | -44231 |
| chr12 | 112862897 | 112862951 | E072 | -43931 |
| chr12 | 112868886 | 112869055 | E072 | -37827 |
| chr12 | 112876136 | 112876198 | E072 | -30684 |
| chr12 | 112908128 | 112908202 | E072 | 1246 |
| chr12 | 112908223 | 112908422 | E072 | 1341 |
| chr12 | 112908452 | 112908547 | E072 | 1570 |
| chr12 | 112918569 | 112919271 | E072 | 11687 |
| chr12 | 112920730 | 112920780 | E072 | 13848 |
| chr12 | 112924717 | 112924767 | E072 | 17835 |
| chr12 | 112925951 | 112926033 | E072 | 19069 |
| chr12 | 112926262 | 112926641 | E072 | 19380 |
| chr12 | 112926968 | 112927862 | E072 | 20086 |
| chr12 | 112935344 | 112935490 | E072 | 28462 |
| chr12 | 112941348 | 112941727 | E072 | 34466 |
| chr12 | 112956273 | 112956402 | E072 | 49391 |
| chr12 | 112956451 | 112956507 | E072 | 49569 |
| chr12 | 112956509 | 112956559 | E072 | 49627 |
| chr12 | 112956591 | 112956677 | E072 | 49709 |
| chr12 | 112858554 | 112858777 | E073 | -48105 |
| chr12 | 112858875 | 112858942 | E073 | -47940 |
| chr12 | 112861924 | 112861968 | E073 | -44914 |
| chr12 | 112862199 | 112862287 | E073 | -44595 |
| chr12 | 112862406 | 112862502 | E073 | -44380 |
| chr12 | 112862576 | 112862651 | E073 | -44231 |
| chr12 | 112918569 | 112919271 | E073 | 11687 |
| chr12 | 112919514 | 112919686 | E073 | 12632 |
| chr12 | 112920730 | 112920780 | E073 | 13848 |
| chr12 | 112925951 | 112926033 | E073 | 19069 |
| chr12 | 112926262 | 112926641 | E073 | 19380 |
| chr12 | 112926968 | 112927862 | E073 | 20086 |
| chr12 | 112941165 | 112941215 | E073 | 34283 |
| chr12 | 112941348 | 112941727 | E073 | 34466 |
| chr12 | 112858211 | 112858261 | E074 | -48621 |
| chr12 | 112858451 | 112858548 | E074 | -48334 |
| chr12 | 112858554 | 112858777 | E074 | -48105 |
| chr12 | 112858875 | 112858942 | E074 | -47940 |
| chr12 | 112860204 | 112860850 | E074 | -46032 |
| chr12 | 112860940 | 112860996 | E074 | -45886 |
| chr12 | 112861924 | 112861968 | E074 | -44914 |
| chr12 | 112862199 | 112862287 | E074 | -44595 |
| chr12 | 112862406 | 112862502 | E074 | -44380 |
| chr12 | 112862576 | 112862651 | E074 | -44231 |
| chr12 | 112868886 | 112869055 | E074 | -37827 |
| chr12 | 112903575 | 112904210 | E074 | -2672 |
| chr12 | 112908452 | 112908547 | E074 | 1570 |
| chr12 | 112908710 | 112909096 | E074 | 1828 |
| chr12 | 112918569 | 112919271 | E074 | 11687 |
| chr12 | 112919514 | 112919686 | E074 | 12632 |
| chr12 | 112920730 | 112920780 | E074 | 13848 |
| chr12 | 112924717 | 112924767 | E074 | 17835 |
| chr12 | 112925951 | 112926033 | E074 | 19069 |
| chr12 | 112926262 | 112926641 | E074 | 19380 |
| chr12 | 112926968 | 112927862 | E074 | 20086 |
| chr12 | 112956273 | 112956402 | E074 | 49391 |
| chr12 | 112956451 | 112956507 | E074 | 49569 |
| chr12 | 112956509 | 112956559 | E074 | 49627 |
| chr12 | 112956591 | 112956677 | E074 | 49709 |
| chr12 | 112858211 | 112858261 | E081 | -48621 |
| chr12 | 112858451 | 112858548 | E081 | -48334 |
| chr12 | 112858554 | 112858777 | E081 | -48105 |
| chr12 | 112925951 | 112926033 | E081 | 19069 |
| chr12 | 112926262 | 112926641 | E081 | 19380 |
| chr12 | 112926968 | 112927862 | E081 | 20086 |
| chr12 | 112928068 | 112928153 | E081 | 21186 |
| chr12 | 112928649 | 112928747 | E081 | 21767 |
| chr12 | 112929535 | 112929585 | E081 | 22653 |
| chr12 | 112936382 | 112936442 | E081 | 29500 |
| chr12 | 112941348 | 112941727 | E081 | 34466 |
| chr12 | 112955344 | 112955430 | E081 | 48462 |
| chr12 | 112955494 | 112955574 | E081 | 48612 |
| chr12 | 112955721 | 112955783 | E081 | 48839 |
| chr12 | 112955803 | 112956164 | E081 | 48921 |
| chr12 | 112956273 | 112956402 | E081 | 49391 |
| chr12 | 112956451 | 112956507 | E081 | 49569 |
| chr12 | 112956509 | 112956559 | E081 | 49627 |
| chr12 | 112956591 | 112956677 | E081 | 49709 |
| chr12 | 112858211 | 112858261 | E082 | -48621 |
| chr12 | 112858451 | 112858548 | E082 | -48334 |
| chr12 | 112858554 | 112858777 | E082 | -48105 |
| chr12 | 112860204 | 112860850 | E082 | -46032 |
| chr12 | 112925951 | 112926033 | E082 | 19069 |
| chr12 | 112926262 | 112926641 | E082 | 19380 |
| chr12 | 112926968 | 112927862 | E082 | 20086 |
| chr12 | 112952353 | 112952491 | E082 | 45471 |
| chr12 | 112952753 | 112952996 | E082 | 45871 |
| chr12 | 112955721 | 112955783 | E082 | 48839 |
| chr12 | 112956273 | 112956402 | E082 | 49391 |
| chr12 | 112956451 | 112956507 | E082 | 49569 |
| chr12 | 112956509 | 112956559 | E082 | 49627 |
| chr12 | 112956591 | 112956677 | E082 | 49709 |
| Chromosome | Start | End | Region | Distance(-/+:Up/Downstream) |
|---|---|---|---|---|
| chr12 | 112893921 | 112894149 | E067 | -12733 |
| chr12 | 112893921 | 112894149 | E068 | -12733 |
| chr12 | 112893921 | 112894149 | E071 | -12733 |