SNP Links for Gene (Select 5781) - SNP

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Select item 14915087731.

rs1491508773 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 12:112462034 (GRCh38)
12:112899838 (GRCh37)
Canonical SPDI:: NC_000012.12:112462033:CA:
Gene:: PTPN11 (Varview), LOC124903023 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.0002/1 (ALFA)
-=0.0002/1 (Estonian)
HGVS:: NC_000012.12:g.112462034_112462035del, NC_000012.11:g.112899838_112899839del, NG_007459.1:g.48303_48304del

Select item 14914831562.

rs1491483156 has merged into rs56070053 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGAGAGAGAGAGAGA>-,GA,GAGA,GAGAGA,GAGAGAGA,GAGAGAGAGA,GAGAGAGAGAGA,GAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA [Show Flanks]
Chromosome:: 12:112471476 (GRCh38)
12:112909280 (GRCh37)
Canonical SPDI:: NC_000012.12:112471454:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGA,NC_000012.12:112471454:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGA,NC_000012.12:112471454:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGA,NC_000012.12:112471454:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000012.12:112471454:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000012.12:112471454:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000012.12:112471454:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000012.12:112471454:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000012.12:112471454:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000012.12:112471454:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000012.12:112471454:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000012.12:112471454:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000012.12:112471454:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000012.12:112471454:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000012.12:112471454:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000012.12:112471454:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000012.12:112471454:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000012.12:112471454:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000012.12:112471454:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000012.12:112471454:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA
Gene:: PTPN11 (Varview), LOC124903023 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGAGAGAGAGAGAGAGAGAGA=0./0 (ALFA)
HGVS:: NC_000012.12:g.112471456GA[10], NC_000012.12:g.112471456GA[11], NC_000012.12:g.112471456GA[12], NC_000012.12:g.112471456GA[13], NC_000012.12:g.112471456GA[14], NC_000012.12:g.112471456GA[15], NC_000012.12:g.112471456GA[16], NC_000012.12:g.112471456GA[17], NC_000012.12:g.112471456GA[19], NC_000012.12:g.112471456GA[20], NC_000012.12:g.112471456GA[21], NC_000012.12:g.112471456GA[22], NC_000012.12:g.112471456GA[23], NC_000012.12:g.112471456GA[24], NC_000012.12:g.112471456GA[25], NC_000012.12:g.112471456GA[26], NC_000012.12:g.112471456GA[27], NC_000012.12:g.112471456GA[28], NC_000012.12:g.112471456GA[29], NC_000012.12:g.112471456GA[33], NC_000012.11:g.112909260GA[10], NC_000012.11:g.112909260GA[11], NC_000012.11:g.112909260GA[12], NC_000012.11:g.112909260GA[13], NC_000012.11:g.112909260GA[14], NC_000012.11:g.112909260GA[15], NC_000012.11:g.112909260GA[16], NC_000012.11:g.112909260GA[17], NC_000012.11:g.112909260GA[19], NC_000012.11:g.112909260GA[20], NC_000012.11:g.112909260GA[21], NC_000012.11:g.112909260GA[22], NC_000012.11:g.112909260GA[23], NC_000012.11:g.112909260GA[24], NC_000012.11:g.112909260GA[25], NC_000012.11:g.112909260GA[26], NC_000012.11:g.112909260GA[27], NC_000012.11:g.112909260GA[28], NC_000012.11:g.112909260GA[29], NC_000012.11:g.112909260GA[33], NG_007459.1:g.57725GA[10], NG_007459.1:g.57725GA[11], NG_007459.1:g.57725GA[12], NG_007459.1:g.57725GA[13], NG_007459.1:g.57725GA[14], NG_007459.1:g.57725GA[15], NG_007459.1:g.57725GA[16], NG_007459.1:g.57725GA[17], NG_007459.1:g.57725GA[19], NG_007459.1:g.57725GA[20], NG_007459.1:g.57725GA[21], NG_007459.1:g.57725GA[22], NG_007459.1:g.57725GA[23], NG_007459.1:g.57725GA[24], NG_007459.1:g.57725GA[25], NG_007459.1:g.57725GA[26], NG_007459.1:g.57725GA[27], NG_007459.1:g.57725GA[28], NG_007459.1:g.57725GA[29], NG_007459.1:g.57725GA[33]

Select item 14914144493.

rs1491414449 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTAT [Show Flanks]
Chromosome:: 12:112445055 (GRCh38)
12:112882860 (GRCh37)
Canonical SPDI:: NC_000012.12:112445055:T:TGTAT
Gene:: PTPN11 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TGTAT=0.000071/1 (ALFA)
TGTA=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.112445056_112445057insGTAT, NC_000012.11:g.112882860_112882861insGTAT, NG_007459.1:g.31325_31326insGTAT

Select item 14913940674.

rs1491394067 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->C
Chromosome:: no mapping
Canonical SPDI:

Select item 14913591465.

rs1491359146 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 12:112459033 (GRCh38)
12:112896838 (GRCh37)
Canonical SPDI:: NC_000012.12:112459033::C
Gene:: PTPN11 (Varview), LOC124903023 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.112459033_112459034insC, NC_000012.11:g.112896837_112896838insC, NG_007459.1:g.45302_45303insC

Select item 14913350836.

rs1491335083 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 12:112462034 (GRCh38)
12:112899839 (GRCh37)
Canonical SPDI:: NC_000012.12:112462034:AAAAAAA:AAAAAAAA
Gene:: PTPN11 (Varview), LOC124903023 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0.000122/2 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000079/11 (GnomAD)
A=0.000446/2 (Estonian)
HGVS:: NC_000012.12:g.112462041dup, NC_000012.11:g.112899845dup, NG_007459.1:g.48310dup

Select item 14912762997.

rs1491276299 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 12:112497171 (GRCh38)
12:112934975 (GRCh37)
Canonical SPDI:: NC_000012.12:112497170:CA:
Gene:: PTPN11 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00017/2 (ALFA)
HGVS:: NC_000012.12:g.112497171_112497172del, NC_000012.11:g.112934975_112934976del, NG_007459.1:g.83440_83441del

Select item 14912386238.

rs1491238623 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,TTTT [Show Flanks]
Chromosome:: 12:112442830 (GRCh38)
12:112880634 (GRCh37)
Canonical SPDI:: NC_000012.12:112442826:TTTTT:TTT,NC_000012.12:112442826:TTTTT:TTTTTTT
Gene:: PTPN11 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTT=0.00008/1 (ALFA)
HGVS:: NC_000012.12:g.112442830_112442831del, NC_000012.12:g.112442830_112442831dup, NC_000012.11:g.112880634_112880635del, NC_000012.11:g.112880634_112880635dup, NG_007459.1:g.29099_29100del, NG_007459.1:g.29099_29100dup

Select item 14911897289.

rs1491189728 has merged into rs1290018033 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA,AAAAA [Show Flanks]
Chromosome:: 12:112459045 (GRCh38)
12:112896849 (GRCh37)
Canonical SPDI:: NC_000012.12:112459032:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:112459032:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:112459032:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:112459032:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:112459032:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA
Gene:: PTPN11 (Varview), LOC124903023 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000012.12:g.112459045_112459046del, NC_000012.12:g.112459046del, NC_000012.12:g.112459046dup, NC_000012.12:g.112459045_112459046dup, NC_000012.12:g.112459044_112459046dup, NC_000012.11:g.112896849_112896850del, NC_000012.11:g.112896850del, NC_000012.11:g.112896850dup, NC_000012.11:g.112896849_112896850dup, NC_000012.11:g.112896848_112896850dup, NG_007459.1:g.45314_45315del, NG_007459.1:g.45315del, NG_007459.1:g.45315dup, NG_007459.1:g.45314_45315dup, NG_007459.1:g.45313_45315dup

Select item 149113811110.

rs1491138111 has merged into rs570561435 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTT>-,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT [Show Flanks]
Chromosome:: 12:112480375 (GRCh38)
12:112918179 (GRCh37)
Canonical SPDI:: NC_000012.12:112480366:TTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000012.12:112480366:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:112480366:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:112480366:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:112480366:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:112480366:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:112480366:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000012.12:112480366:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT
Gene:: PTPN11 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.04778/28 (NorthernSweden)
-=0.17971/900 (1000Genomes)
HGVS:: NC_000012.12:g.112480375_112480384del, NC_000012.12:g.112480380_112480384del, NC_000012.12:g.112480381_112480384del, NC_000012.12:g.112480382_112480384del, NC_000012.12:g.112480383_112480384del, NC_000012.12:g.112480384del, NC_000012.12:g.112480384dup, NC_000012.12:g.112480383_112480384dup, NC_000012.11:g.112918179_112918188del, NC_000012.11:g.112918184_112918188del, NC_000012.11:g.112918185_112918188del, NC_000012.11:g.112918186_112918188del, NC_000012.11:g.112918187_112918188del, NC_000012.11:g.112918188del, NC_000012.11:g.112918188dup, NC_000012.11:g.112918187_112918188dup, NG_007459.1:g.66644_66653del, NG_007459.1:g.66649_66653del, NG_007459.1:g.66650_66653del, NG_007459.1:g.66651_66653del, NG_007459.1:g.66652_66653del, NG_007459.1:g.66653del, NG_007459.1:g.66653dup, NG_007459.1:g.66652_66653dup

Select item 149110083811.

rs1491100838 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 12:112442827 (GRCh38)
12:112880632 (GRCh37)
Canonical SPDI:: NC_000012.12:112442827::C
Gene:: PTPN11 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.00011/7 (GnomAD)
HGVS:: NC_000012.12:g.112442827_112442828insC, NC_000012.11:g.112880631_112880632insC, NG_007459.1:g.29096_29097insC

Select item 149095649112.

rs1490956491 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:112456499 (GRCh38)
12:112894303 (GRCh37)
Canonical SPDI:: NC_000012.12:112456498:C:T
Gene:: PTPN11 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.112456499C>T, NC_000012.11:g.112894303C>T, NG_007459.1:g.42768C>T

Select item 149077131813.

rs1490771318 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 12:112428418 (GRCh38)
12:112866222 (GRCh37)
Canonical SPDI:: NC_000012.12:112428417:G:
Gene:: PTPN11 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.01175/197 (TOMMO)
-=0.02031/37 (Korea1K)
HGVS:: NC_000012.12:g.112428418del, NC_000012.11:g.112866222del, NG_007459.1:g.14687del

Select item 149076631014.

rs1490766310 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAA>- [Show Flanks]
Chromosome:: 12:112432374 (GRCh38)
12:112870178 (GRCh37)
Canonical SPDI:: NC_000012.12:112432371:AAGAA:AA
Gene:: PTPN11 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000015/4 (TOPMED)
HGVS:: NC_000012.12:g.112432374_112432376del, NC_000012.11:g.112870178_112870180del, NG_007459.1:g.18643_18645del

Select item 149075600415.

rs1490756004 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:112465653 (GRCh38)
12:112903457 (GRCh37)
Canonical SPDI:: NC_000012.12:112465652:G:A
Gene:: PTPN11 (Varview), LOC124903023 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.112465653G>A, NC_000012.11:g.112903457G>A, NG_007459.1:g.51922G>A

Select item 149071666116.

rs1490716661 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:112467536 (GRCh38)
12:112905340 (GRCh37)
Canonical SPDI:: NC_000012.12:112467535:C:A
Gene:: PTPN11 (Varview), LOC124903023 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.112467536C>A, NC_000012.11:g.112905340C>A, NG_007459.1:g.53805C>A

Select item 149070584217.

rs1490705842 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:112464491 (GRCh38)
12:112902295 (GRCh37)
Canonical SPDI:: NC_000012.12:112464490:G:A
Gene:: PTPN11 (Varview), LOC124903023 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000021/3 (GnomAD)
A=0.000026/7 (TOPMED)
HGVS:: NC_000012.12:g.112464491G>A, NC_000012.11:g.112902295G>A, NG_007459.1:g.50760G>A

Select item 149066823318.

rs1490668233 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:112482792 (GRCh38)
12:112920596 (GRCh37)
Canonical SPDI:: NC_000012.12:112482791:G:C
Gene:: PTPN11 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.112482792G>C, NC_000012.11:g.112920596G>C, NG_007459.1:g.69061G>C

Select item 149065576119.

rs1490655761 [Homo sapiens]

Variant type:: DEL
Alleles:: TTTTTTTTT>- [Show Flanks]
Chromosome:: 12:112440283 (GRCh38)
12:112878087 (GRCh37)
Canonical SPDI:: NC_000012.12:112440282:TTTTTTTTT:
Gene:: PTPN11 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.112440283_112440291del, NC_000012.11:g.112878087_112878095del, NG_007459.1:g.26552_26560del

Select item 149062294920.

rs1490622949 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:112423796 (GRCh38)
12:112861600 (GRCh37)
Canonical SPDI:: NC_000012.12:112423795:G:C
Gene:: PTPN11 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/1 (GnomAD)
C=0.000019/5 (TOPMED)
HGVS:: NC_000012.12:g.112423796G>C, NC_000012.11:g.112861600G>C, NG_007459.1:g.10065G>C

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