SNP Links for Gene (Select 5791) - SNP

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Select item 14915756421.

rs1491575642 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 10:127930061 (GRCh38)
10:129728325 (GRCh37)
Canonical SPDI:: NC_000010.11:127930060:CA:
Gene:: PTPRE (Varview), LOC124902557 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000010.11:g.127930061_127930062del, NC_000010.10:g.129728325_129728326del, NG_029511.1:g.28001_28002del

Select item 14915698412.

rs1491569841 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 10:128037957 (GRCh38)
10:129836221 (GRCh37)
Canonical SPDI:: NC_000010.11:128037956:AT:
Gene:: PTPRE (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00001/1 (GnomAD)
HGVS:: NC_000010.11:g.128037957_128037958del, NC_000010.10:g.129836221_129836222del, NG_029511.1:g.135897_135898del

Select item 14915622853.

rs1491562285 has merged into rs1314110241 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>-,GTGT [Show Flanks]
Chromosome:: 10:128001226 (GRCh38)
10:129799490 (GRCh37)
Canonical SPDI:: NC_000010.11:128001214:TGTGTGTGTGTGT:TGTGTGTGTGT,NC_000010.11:128001214:TGTGTGTGTGTGT:TGTGTGTGTGTGTGT
Gene:: PTPRE (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGT=0./0 (ALFA)
TG=0.000155/41 (TOPMED)
HGVS:: NC_000010.11:g.128001216GT[5], NC_000010.11:g.128001216GT[7], NC_000010.10:g.129799480GT[5], NC_000010.10:g.129799480GT[7], NG_029511.1:g.99156GT[5], NG_029511.1:g.99156GT[7]

Select item 14915495744.

rs1491549574 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 10:128072657 (GRCh38)
10:129870921 (GRCh37)
Canonical SPDI:: NC_000010.11:128072656:CA:
Gene:: PTPRE (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.0016/19 (ALFA)
-=0.00211/34 (TOMMO)
HGVS:: NC_000010.11:g.128072657_128072658del, NC_000010.10:g.129870921_129870922del, NG_029511.1:g.170597_170598del

Select item 14915012715.

rs1491501271 has merged into rs78184561 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>-,CACA,CACACA,CACACACA [Show Flanks]
Chromosome:: 10:128035298 (GRCh38)
10:129833562 (GRCh37)
Canonical SPDI:: NC_000010.11:128035282:ACACACACACACACACA:ACACACACACACACA,NC_000010.11:128035282:ACACACACACACACACA:ACACACACACACACACACA,NC_000010.11:128035282:ACACACACACACACACA:ACACACACACACACACACACA,NC_000010.11:128035282:ACACACACACACACACA:ACACACACACACACACACACACA
Gene:: PTPRE (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACACACACACA=0./0 (ALFA)
AC=0.345/1728 (1000Genomes)
AC=0.4008/400 (GoNL)
AC=0.4283/257 (NorthernSweden)
AC=0.4506/2018 (Estonian)
AC=0.475/19 (GENOME_DK)
HGVS:: NC_000010.11:g.128035284CA[7], NC_000010.11:g.128035284CA[9], NC_000010.11:g.128035284CA[10], NC_000010.11:g.128035284CA[11], NC_000010.10:g.129833548CA[7], NC_000010.10:g.129833548CA[9], NC_000010.10:g.129833548CA[10], NC_000010.10:g.129833548CA[11], NG_029511.1:g.133224CA[7], NG_029511.1:g.133224CA[9], NG_029511.1:g.133224CA[10], NG_029511.1:g.133224CA[11]

Select item 14914786496.

rs1491478649 has merged into rs59411622 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 10:128041657 (GRCh38)
10:129839921 (GRCh37)
Canonical SPDI:: NC_000010.11:128041646:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000010.11:128041646:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000010.11:128041646:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000010.11:128041646:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:128041646:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000010.11:128041646:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000010.11:128041646:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000010.11:128041646:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000010.11:128041646:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000010.11:128041646:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000010.11:128041646:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000010.11:128041646:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:128041646:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:128041646:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:128041646:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:128041646:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:128041646:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:128041646:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:128041646:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:128041646:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:128041646:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:128041646:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:128041646:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:128041646:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:128041646:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PTPRE (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000010.11:g.128041657_128041671del, NC_000010.11:g.128041659_128041671del, NC_000010.11:g.128041660_128041671del, NC_000010.11:g.128041661_128041671del, NC_000010.11:g.128041662_128041671del, NC_000010.11:g.128041663_128041671del, NC_000010.11:g.128041664_128041671del, NC_000010.11:g.128041665_128041671del, NC_000010.11:g.128041666_128041671del, NC_000010.11:g.128041667_128041671del, NC_000010.11:g.128041668_128041671del, NC_000010.11:g.128041669_128041671del, NC_000010.11:g.128041670_128041671del, NC_000010.11:g.128041671del, NC_000010.11:g.128041671dup, NC_000010.11:g.128041670_128041671dup, NC_000010.11:g.128041669_128041671dup, NC_000010.11:g.128041668_128041671dup, NC_000010.11:g.128041667_128041671dup, NC_000010.11:g.128041666_128041671dup, NC_000010.11:g.128041665_128041671dup, NC_000010.11:g.128041657_128041671dup, NC_000010.11:g.128041653_128041671dup, NC_000010.11:g.128041650_128041671dup, NC_000010.11:g.128041649_128041671dup, NC_000010.10:g.129839921_129839935del, NC_000010.10:g.129839923_129839935del, NC_000010.10:g.129839924_129839935del, NC_000010.10:g.129839925_129839935del, NC_000010.10:g.129839926_129839935del, NC_000010.10:g.129839927_129839935del, NC_000010.10:g.129839928_129839935del, NC_000010.10:g.129839929_129839935del, NC_000010.10:g.129839930_129839935del, NC_000010.10:g.129839931_129839935del, NC_000010.10:g.129839932_129839935del, NC_000010.10:g.129839933_129839935del, NC_000010.10:g.129839934_129839935del, NC_000010.10:g.129839935del, NC_000010.10:g.129839935dup, NC_000010.10:g.129839934_129839935dup, NC_000010.10:g.129839933_129839935dup, NC_000010.10:g.129839932_129839935dup, NC_000010.10:g.129839931_129839935dup, NC_000010.10:g.129839930_129839935dup, NC_000010.10:g.129839929_129839935dup, NC_000010.10:g.129839921_129839935dup, NC_000010.10:g.129839917_129839935dup, NC_000010.10:g.129839914_129839935dup, NC_000010.10:g.129839913_129839935dup, NG_029511.1:g.139597_139611del, NG_029511.1:g.139599_139611del, NG_029511.1:g.139600_139611del, NG_029511.1:g.139601_139611del, NG_029511.1:g.139602_139611del, NG_029511.1:g.139603_139611del, NG_029511.1:g.139604_139611del, NG_029511.1:g.139605_139611del, NG_029511.1:g.139606_139611del, NG_029511.1:g.139607_139611del, NG_029511.1:g.139608_139611del, NG_029511.1:g.139609_139611del, NG_029511.1:g.139610_139611del, NG_029511.1:g.139611del, NG_029511.1:g.139611dup, NG_029511.1:g.139610_139611dup, NG_029511.1:g.139609_139611dup, NG_029511.1:g.139608_139611dup, NG_029511.1:g.139607_139611dup, NG_029511.1:g.139606_139611dup, NG_029511.1:g.139605_139611dup, NG_029511.1:g.139597_139611dup, NG_029511.1:g.139593_139611dup, NG_029511.1:g.139590_139611dup, NG_029511.1:g.139589_139611dup

Select item 14914441057.

rs1491444105 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 10:127952342 (GRCh38)
10:129750606 (GRCh37)
Canonical SPDI:: NC_000010.11:127952341:CT:
Gene:: PTPRE (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000035/1 (TOMMO)
-=0.000046/5 (GnomAD)
HGVS:: NC_000010.11:g.127952342_127952343del, NC_000010.10:g.129750606_129750607del, NG_029511.1:g.50282_50283del

Select item 14914417728.

rs1491441772 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 10:128074666 (GRCh38)
10:129872930 (GRCh37)
Canonical SPDI:: NC_000010.11:128074665:CA:
Gene:: PTPRE (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000010.11:g.128074666_128074667del, NC_000010.10:g.129872930_129872931del, NG_029511.1:g.172606_172607del

Select item 14914301519.

rs1491430151 [Homo sapiens]

Variant type:: DEL
Alleles:: GC>- [Show Flanks]
Chromosome:: 10:128059938 (GRCh38)
10:129858202 (GRCh37)
Canonical SPDI:: NC_000010.11:128059937:GC:
Gene:: PTPRE (Varview), AS-PTPRE (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.128059938_128059939del, NC_000010.10:g.129858202_129858203del, NG_029511.1:g.157878_157879del

Select item 149142306710.

rs1491423067 has merged into rs147227714 [Homo sapiens]

Variant type:: DELINS
Alleles:: TG>-,TGTG,TGTGTG,TGTGTGTG [Show Flanks]
Chromosome:: 10:128001211 (GRCh38)
10:129799475 (GRCh37)
Canonical SPDI:: NC_000010.11:128001197:GTGTGTGTGTGTGTG:GTGTGTGTGTGTG,NC_000010.11:128001197:GTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTG,NC_000010.11:128001197:GTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTG,NC_000010.11:128001197:GTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTG
Gene:: PTPRE (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGTGTGTGTG=0./0 (ALFA)
GT=0.19811/42 (Vietnamese)
GT=0.22926/420 (Korea1K)
GT=0.23167/139 (NorthernSweden)
HGVS:: NC_000010.11:g.128001199TG[6], NC_000010.11:g.128001199TG[8], NC_000010.11:g.128001199TG[9], NC_000010.11:g.128001199TG[10], NC_000010.10:g.129799463TG[6], NC_000010.10:g.129799463TG[8], NC_000010.10:g.129799463TG[9], NC_000010.10:g.129799463TG[10], NG_029511.1:g.99139TG[6], NG_029511.1:g.99139TG[8], NG_029511.1:g.99139TG[9], NG_029511.1:g.99139TG[10]

Select item 149138870311.

rs1491388703 has merged into rs57166500 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTT>-,T,TT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 10:127988315 (GRCh38)
10:129786579 (GRCh37)
Canonical SPDI:: NC_000010.11:127988304:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000010.11:127988304:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000010.11:127988304:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000010.11:127988304:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000010.11:127988304:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000010.11:127988304:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000010.11:127988304:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000010.11:127988304:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000010.11:127988304:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000010.11:127988304:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:127988304:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:127988304:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:127988304:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:127988304:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:127988304:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:127988304:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:127988304:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:127988304:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: PTPRE (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000010.11:g.127988315_127988323del, NC_000010.11:g.127988316_127988323del, NC_000010.11:g.127988317_127988323del, NC_000010.11:g.127988319_127988323del, NC_000010.11:g.127988321_127988323del, NC_000010.11:g.127988322_127988323del, NC_000010.11:g.127988323del, NC_000010.11:g.127988323dup, NC_000010.11:g.127988322_127988323dup, NC_000010.11:g.127988321_127988323dup, NC_000010.11:g.127988320_127988323dup, NC_000010.11:g.127988319_127988323dup, NC_000010.11:g.127988318_127988323dup, NC_000010.11:g.127988317_127988323dup, NC_000010.11:g.127988316_127988323dup, NC_000010.11:g.127988310_127988323dup, NC_000010.11:g.127988309_127988323dup, NC_000010.11:g.127988308_127988323dup, NC_000010.10:g.129786579_129786587del, NC_000010.10:g.129786580_129786587del, NC_000010.10:g.129786581_129786587del, NC_000010.10:g.129786583_129786587del, NC_000010.10:g.129786585_129786587del, NC_000010.10:g.129786586_129786587del, NC_000010.10:g.129786587del, NC_000010.10:g.129786587dup, NC_000010.10:g.129786586_129786587dup, NC_000010.10:g.129786585_129786587dup, NC_000010.10:g.129786584_129786587dup, NC_000010.10:g.129786583_129786587dup, NC_000010.10:g.129786582_129786587dup, NC_000010.10:g.129786581_129786587dup, NC_000010.10:g.129786580_129786587dup, NC_000010.10:g.129786574_129786587dup, NC_000010.10:g.129786573_129786587dup, NC_000010.10:g.129786572_129786587dup, NG_029511.1:g.86255_86263del, NG_029511.1:g.86256_86263del, NG_029511.1:g.86257_86263del, NG_029511.1:g.86259_86263del, NG_029511.1:g.86261_86263del, NG_029511.1:g.86262_86263del, NG_029511.1:g.86263del, NG_029511.1:g.86263dup, NG_029511.1:g.86262_86263dup, NG_029511.1:g.86261_86263dup, NG_029511.1:g.86260_86263dup, NG_029511.1:g.86259_86263dup, NG_029511.1:g.86258_86263dup, NG_029511.1:g.86257_86263dup, NG_029511.1:g.86256_86263dup, NG_029511.1:g.86250_86263dup, NG_029511.1:g.86249_86263dup, NG_029511.1:g.86248_86263dup

Select item 149136759812.

rs1491367598 has merged into rs34089996 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 10:128037968 (GRCh38)
10:129836232 (GRCh37)
Canonical SPDI:: NC_000010.11:128037957:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000010.11:128037957:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000010.11:128037957:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000010.11:128037957:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000010.11:128037957:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000010.11:128037957:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000010.11:128037957:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000010.11:128037957:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000010.11:128037957:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000010.11:128037957:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000010.11:128037957:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000010.11:128037957:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:128037957:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:128037957:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:128037957:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:128037957:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:128037957:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:128037957:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:128037957:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:128037957:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:128037957:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:128037957:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:128037957:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:128037957:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:128037957:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:128037957:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:128037957:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:128037957:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:128037957:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:128037957:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:128037957:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:128037957:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:128037957:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:128037957:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:128037957:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:128037957:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:128037957:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: PTPRE (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
TTT=0.1931/967 (1000Genomes)
HGVS:: NC_000010.11:g.128037968_128037980del, NC_000010.11:g.128037970_128037980del, NC_000010.11:g.128037971_128037980del, NC_000010.11:g.128037972_128037980del, NC_000010.11:g.128037973_128037980del, NC_000010.11:g.128037974_128037980del, NC_000010.11:g.128037975_128037980del, NC_000010.11:g.128037976_128037980del, NC_000010.11:g.128037977_128037980del, NC_000010.11:g.128037978_128037980del, NC_000010.11:g.128037979_128037980del, NC_000010.11:g.128037980del, NC_000010.11:g.128037980dup, NC_000010.11:g.128037979_128037980dup, NC_000010.11:g.128037978_128037980dup, NC_000010.11:g.128037977_128037980dup, NC_000010.11:g.128037976_128037980dup, NC_000010.11:g.128037975_128037980dup, NC_000010.11:g.128037974_128037980dup, NC_000010.11:g.128037972_128037980dup, NC_000010.11:g.128037971_128037980dup, NC_000010.11:g.128037970_128037980dup, NC_000010.11:g.128037969_128037980dup, NC_000010.11:g.128037968_128037980dup, NC_000010.11:g.128037967_128037980dup, NC_000010.11:g.128037966_128037980dup, NC_000010.11:g.128037965_128037980dup, NC_000010.11:g.128037964_128037980dup, NC_000010.11:g.128037963_128037980dup, NC_000010.11:g.128037962_128037980dup, NC_000010.11:g.128037961_128037980dup, NC_000010.11:g.128037960_128037980dup, NC_000010.11:g.128037980_128037981insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.128037980_128037981insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.128037980_128037981insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.128037980_128037981insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.128037980_128037981insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.129836232_129836244del, NC_000010.10:g.129836234_129836244del, NC_000010.10:g.129836235_129836244del, NC_000010.10:g.129836236_129836244del, NC_000010.10:g.129836237_129836244del, NC_000010.10:g.129836238_129836244del, NC_000010.10:g.129836239_129836244del, NC_000010.10:g.129836240_129836244del, NC_000010.10:g.129836241_129836244del, NC_000010.10:g.129836242_129836244del, NC_000010.10:g.129836243_129836244del, NC_000010.10:g.129836244del, NC_000010.10:g.129836244dup, NC_000010.10:g.129836243_129836244dup, NC_000010.10:g.129836242_129836244dup, NC_000010.10:g.129836241_129836244dup, NC_000010.10:g.129836240_129836244dup, NC_000010.10:g.129836239_129836244dup, NC_000010.10:g.129836238_129836244dup, NC_000010.10:g.129836236_129836244dup, NC_000010.10:g.129836235_129836244dup, NC_000010.10:g.129836234_129836244dup, NC_000010.10:g.129836233_129836244dup, NC_000010.10:g.129836232_129836244dup, NC_000010.10:g.129836231_129836244dup, NC_000010.10:g.129836230_129836244dup, NC_000010.10:g.129836229_129836244dup, NC_000010.10:g.129836228_129836244dup, NC_000010.10:g.129836227_129836244dup, NC_000010.10:g.129836226_129836244dup, NC_000010.10:g.129836225_129836244dup, NC_000010.10:g.129836224_129836244dup, NC_000010.10:g.129836244_129836245insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.129836244_129836245insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.129836244_129836245insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.129836244_129836245insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.129836244_129836245insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_029511.1:g.135908_135920del, NG_029511.1:g.135910_135920del, NG_029511.1:g.135911_135920del, NG_029511.1:g.135912_135920del, NG_029511.1:g.135913_135920del, NG_029511.1:g.135914_135920del, NG_029511.1:g.135915_135920del, NG_029511.1:g.135916_135920del, NG_029511.1:g.135917_135920del, NG_029511.1:g.135918_135920del, NG_029511.1:g.135919_135920del, NG_029511.1:g.135920del, NG_029511.1:g.135920dup, NG_029511.1:g.135919_135920dup, NG_029511.1:g.135918_135920dup, NG_029511.1:g.135917_135920dup, NG_029511.1:g.135916_135920dup, NG_029511.1:g.135915_135920dup, NG_029511.1:g.135914_135920dup, NG_029511.1:g.135912_135920dup, NG_029511.1:g.135911_135920dup, NG_029511.1:g.135910_135920dup, NG_029511.1:g.135909_135920dup, NG_029511.1:g.135908_135920dup, NG_029511.1:g.135907_135920dup, NG_029511.1:g.135906_135920dup, NG_029511.1:g.135905_135920dup, NG_029511.1:g.135904_135920dup, NG_029511.1:g.135903_135920dup, NG_029511.1:g.135902_135920dup, NG_029511.1:g.135901_135920dup, NG_029511.1:g.135900_135920dup, NG_029511.1:g.135920_135921insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_029511.1:g.135920_135921insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_029511.1:g.135920_135921insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_029511.1:g.135920_135921insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_029511.1:g.135920_135921insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149134975513.

rs1491349755 has merged into rs10611602 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTGTGTG>-,TG,TGTG,TGTGTG,TGTGTGTGTG [Show Flanks]
Chromosome:: 10:128020069 (GRCh38)
10:129818333 (GRCh37)
Canonical SPDI:: NC_000010.11:128020057:GTGTGTGTGTGTGTGTGTG:GTGTGTGTGTG,NC_000010.11:128020057:GTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTG,NC_000010.11:128020057:GTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTG,NC_000010.11:128020057:GTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTG,NC_000010.11:128020057:GTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTG
Gene:: PTPRE (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGTG=0./0 (ALFA)
GT=0.35/14 (GENOME_DK)
GT=0.4056/2031 (1000Genomes)
GT=0.4579/98 (Vietnamese)
HGVS:: NC_000010.11:g.128020059TG[5], NC_000010.11:g.128020059TG[6], NC_000010.11:g.128020059TG[7], NC_000010.11:g.128020059TG[8], NC_000010.11:g.128020059TG[10], NC_000010.10:g.129818323TG[5], NC_000010.10:g.129818323TG[6], NC_000010.10:g.129818323TG[7], NC_000010.10:g.129818323TG[8], NC_000010.10:g.129818323TG[10], NG_029511.1:g.117999TG[5], NG_029511.1:g.117999TG[6], NG_029511.1:g.117999TG[7], NG_029511.1:g.117999TG[8], NG_029511.1:g.117999TG[10]

Select item 149133516614.

rs1491335166 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 10:127988305 (GRCh38)
10:129786570 (GRCh37)
Canonical SPDI:: NC_000010.11:127988305::C
Gene:: PTPRE (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.00034/4 (ALFA)
C=0.00099/11 (GnomAD)
HGVS:: NC_000010.11:g.127988305_127988306insC, NC_000010.10:g.129786569_129786570insC, NG_029511.1:g.86245_86246insC

Select item 149133194715.

rs1491331947 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 10:127980338 (GRCh38)
10:129778602 (GRCh37)
Canonical SPDI:: NC_000010.11:127980337:CT:
Gene:: PTPRE (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000035/4 (GnomAD)
HGVS:: NC_000010.11:g.127980338_127980339del, NC_000010.10:g.129778602_129778603del, NG_029511.1:g.78278_78279del, XM_047425576.1:c.-1867_-1866del

Select item 149131245516.

rs1491312455 has merged into rs59251219 [Homo sapiens]

Variant type:: DELINS
Alleles:: CATACATACATACATACATA>-,CATA,CATACATA,CATACATACATA,CATACATACATACATA,CATACATACATACATACATACATA,CATACATACATACATACATACATACATA,CATACATACATACATACATACATACATACATA,CATACATACATACATACATACATACATACATACATA [Show Flanks]
Chromosome:: 10:127955305 (GRCh38)
10:129753569 (GRCh37)
Canonical SPDI:: NC_000010.11:127955286:TACATACATACATACATACATACATACATACATACATA:TACATACATACATACATA,NC_000010.11:127955286:TACATACATACATACATACATACATACATACATACATA:TACATACATACATACATACATA,NC_000010.11:127955286:TACATACATACATACATACATACATACATACATACATA:TACATACATACATACATACATACATA,NC_000010.11:127955286:TACATACATACATACATACATACATACATACATACATA:TACATACATACATACATACATACATACATA,NC_000010.11:127955286:TACATACATACATACATACATACATACATACATACATA:TACATACATACATACATACATACATACATACATA,NC_000010.11:127955286:TACATACATACATACATACATACATACATACATACATA:TACATACATACATACATACATACATACATACATACATACATA,NC_000010.11:127955286:TACATACATACATACATACATACATACATACATACATA:TACATACATACATACATACATACATACATACATACATACATACATA,NC_000010.11:127955286:TACATACATACATACATACATACATACATACATACATA:TACATACATACATACATACATACATACATACATACATACATACATACATA,NC_000010.11:127955286:TACATACATACATACATACATACATACATACATACATA:TACATACATACATACATACATACATACATACATACATACATACATACATACATA
Gene:: PTPRE (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TACATACATACATACATACATA=0./0 (ALFA)
HGVS:: NC_000010.11:g.127955289CATA[4], NC_000010.11:g.127955289CATA[5], NC_000010.11:g.127955289CATA[6], NC_000010.11:g.127955289CATA[7], NC_000010.11:g.127955289CATA[8], NC_000010.11:g.127955289CATA[10], NC_000010.11:g.127955289CATA[11], NC_000010.11:g.127955289CATA[12], NC_000010.11:g.127955289CATA[13], NC_000010.10:g.129753553CATA[4], NC_000010.10:g.129753553CATA[5], NC_000010.10:g.129753553CATA[6], NC_000010.10:g.129753553CATA[7], NC_000010.10:g.129753553CATA[8], NC_000010.10:g.129753553CATA[10], NC_000010.10:g.129753553CATA[11], NC_000010.10:g.129753553CATA[12], NC_000010.10:g.129753553CATA[13], NG_029511.1:g.53229CATA[4], NG_029511.1:g.53229CATA[5], NG_029511.1:g.53229CATA[6], NG_029511.1:g.53229CATA[7], NG_029511.1:g.53229CATA[8], NG_029511.1:g.53229CATA[10], NG_029511.1:g.53229CATA[11], NG_029511.1:g.53229CATA[12], NG_029511.1:g.53229CATA[13]

Select item 149130713717.

rs1491307137 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TGAG,TGTGAG [Show Flanks]
Chromosome:: 10:127982529 (GRCh38)
10:129780794 (GRCh37)
Canonical SPDI:: NC_000010.11:127982529:G:GTGAG,NC_000010.11:127982529:G:GTGTGAG
Gene:: PTPRE (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: GTGTGAG=0./0 (ALFA)
HGVS:: NC_000010.11:g.127982530_127982531insTGAG, NC_000010.11:g.127982530GT[2]GAG[1], NC_000010.10:g.129780794_129780795insTGAG, NC_000010.10:g.129780794GT[2]GAG[1], NG_029511.1:g.80470_80471insTGAG, NG_029511.1:g.80470GT[2]GAG[1]

Select item 149128707918.

rs1491287079 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C,CC [Show Flanks]
Chromosome:: 10:128067153 (GRCh38)
10:129865418 (GRCh37)
Canonical SPDI:: NC_000010.11:128067153:CCCC:CCCCC,NC_000010.11:128067153:CCCC:CCCCCC
Gene:: PTPRE (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCC=0./0 (ALFA)
C=0.00003/8 (TOPMED)
CC=0.00004/5 (GnomAD)
C=0.000156/1 (1000Genomes)
HGVS:: NC_000010.11:g.128067157dup, NC_000010.11:g.128067156_128067157dup, NC_000010.10:g.129865421dup, NC_000010.10:g.129865420_129865421dup, NG_029511.1:g.165097dup, NG_029511.1:g.165096_165097dup

Select item 149128640219.

rs1491286402 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 10:128041646 (GRCh38)
10:129839910 (GRCh37)
Canonical SPDI:: NC_000010.11:128041645:CA:
Gene:: PTPRE (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.0365/433 (ALFA)
-=0.00128/36 (GnomAD)
-=0.0083/135 (TOMMO)
HGVS:: NC_000010.11:g.128041646_128041647del, NC_000010.10:g.129839910_129839911del, NG_029511.1:g.139586_139587del

Select item 149128583020.

rs1491285830 has merged into rs11336623 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 10:127980349 (GRCh38)
10:129778613 (GRCh37)
Canonical SPDI:: NC_000010.11:127980338:TTTTTTTTTTTTTT:TTTTTTTTTT,NC_000010.11:127980338:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000010.11:127980338:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000010.11:127980338:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000010.11:127980338:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000010.11:127980338:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000010.11:127980338:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000010.11:127980338:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:127980338:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:127980338:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:127980338:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:127980338:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:127980338:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:127980338:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:127980338:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:127980338:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: PTPRE (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.2041/1022 (1000Genomes)
HGVS:: NC_000010.11:g.127980349_127980352del, NC_000010.11:g.127980350_127980352del, NC_000010.11:g.127980351_127980352del, NC_000010.11:g.127980352del, NC_000010.11:g.127980352dup, NC_000010.11:g.127980351_127980352dup, NC_000010.11:g.127980350_127980352dup, NC_000010.11:g.127980343_127980352dup, NC_000010.11:g.127980342_127980352dup, NC_000010.11:g.127980341_127980352dup, NC_000010.11:g.127980339_127980352dup, NC_000010.11:g.127980352_127980353insTTTTTTTTTTTTTTT, NC_000010.11:g.127980352_127980353insTTTTTTTTTTTTTTTTTT, NC_000010.11:g.127980352_127980353insTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.127980352_127980353insTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.127980352_127980353insTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.129778613_129778616del, NC_000010.10:g.129778614_129778616del, NC_000010.10:g.129778615_129778616del, NC_000010.10:g.129778616del, NC_000010.10:g.129778616dup, NC_000010.10:g.129778615_129778616dup, NC_000010.10:g.129778614_129778616dup, NC_000010.10:g.129778607_129778616dup, NC_000010.10:g.129778606_129778616dup, NC_000010.10:g.129778605_129778616dup, NC_000010.10:g.129778603_129778616dup, NC_000010.10:g.129778616_129778617insTTTTTTTTTTTTTTT, NC_000010.10:g.129778616_129778617insTTTTTTTTTTTTTTTTTT, NC_000010.10:g.129778616_129778617insTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.129778616_129778617insTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.129778616_129778617insTTTTTTTTTTTTTTTTTTTTT, NG_029511.1:g.78289_78292del, NG_029511.1:g.78290_78292del, NG_029511.1:g.78291_78292del, NG_029511.1:g.78292del, NG_029511.1:g.78292dup, NG_029511.1:g.78291_78292dup, NG_029511.1:g.78290_78292dup, NG_029511.1:g.78283_78292dup, NG_029511.1:g.78282_78292dup, NG_029511.1:g.78281_78292dup, NG_029511.1:g.78279_78292dup, NG_029511.1:g.78292_78293insTTTTTTTTTTTTTTT, NG_029511.1:g.78292_78293insTTTTTTTTTTTTTTTTTT, NG_029511.1:g.78292_78293insTTTTTTTTTTTTTTTTTTT, NG_029511.1:g.78292_78293insTTTTTTTTTTTTTTTTTTTT, NG_029511.1:g.78292_78293insTTTTTTTTTTTTTTTTTTTTT, XM_047425576.1:c.-1856_-1853del, XM_047425576.1:c.-1855_-1853del, XM_047425576.1:c.-1854_-1853del, XM_047425576.1:c.-1853del, XM_047425576.1:c.-1853dup, XM_047425576.1:c.-1854_-1853dup, XM_047425576.1:c.-1855_-1853dup, XM_047425576.1:c.-1862_-1853dup, XM_047425576.1:c.-1863_-1853dup, XM_047425576.1:c.-1864_-1853dup, XM_047425576.1:c.-1866_-1853dup, XM_047425576.1:c.-1853_-1852insTTTTTTTTTTTTTTT, XM_047425576.1:c.-1853_-1852insTTTTTTTTTTTTTTTTTT, XM_047425576.1:c.-1853_-1852insTTTTTTTTTTTTTTTTTTT, XM_047425576.1:c.-1853_-1852insTTTTTTTTTTTTTTTTTTTT, XM_047425576.1:c.-1853_-1852insTTTTTTTTTTTTTTTTTTTTT

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