SNP Links for Gene (Select 693230) - SNP

Links from Gene

Items: 1 to 20 of 635

<< First< Prev

Page of 32

Next >Last >>

Select item 14899378271.

rs1489937827 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 20:50586324 (GRCh38)
20:49202861 (GRCh37)
Canonical SPDI:: NC_000020.11:50586323:G:T
Gene:: RIPOR3 (Varview), MIR645 (Varview)
Functional Consequence:: 3_prime_UTR_variant,downstream_transcript_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,500B_downstream_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.50586324G>T, NC_000020.10:g.49202861G>T, NG_012119.2:g.80971G>T, NG_034040.1:g.110207C>A, NM_080829.4:c.*908C>A, NM_080829.3:c.*908C>A, NM_080829.2:c.*908C>A, NR_110890.2:n.4334C>A, NR_110890.1:n.4322C>A, NM_001290268.2:c.*908C>A, NM_001290268.1:c.*908C>A, XM_006723713.5:c.*908C>A, XM_006723713.4:c.*908C>A, XM_006723713.3:c.*908C>A, XM_006723713.2:c.*908C>A, XM_006723713.1:c.*908C>A, XM_011528579.3:c.*908C>A, XM_011528579.2:c.*908C>A, XM_011528579.1:c.*908C>A, XM_011528585.3:c.*908C>A, XM_011528585.2:c.*908C>A, XM_011528585.1:c.*908C>A, XM_047439912.1:c.*908C>A, XM_047439913.1:c.*908C>A, XM_017027681.1:c.*908C>A

Select item 14897415812.

rs1489741581 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:50585775 (GRCh38)
20:49202312 (GRCh37)
Canonical SPDI:: NC_000020.11:50585774:G:A
Gene:: RIPOR3 (Varview), MIR645 (Varview)
Functional Consequence:: 500B_downstream_variant,upstream_transcript_variant,2KB_upstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.50585775G>A, NC_000020.10:g.49202312G>A, NG_012119.2:g.80422G>A, NG_034040.1:g.110756C>T

Select item 14836579223.

rs1483657922 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 20:50585069 (GRCh38)
20:49201607 (GRCh37)
Canonical SPDI:: NC_000020.11:50585069:TTTT:TTTTT
Gene:: PTPN1 (Varview), MIR645 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.50585073dup, NC_000020.10:g.49201610dup, NG_012119.2:g.79720dup, NM_002827.4:c.*2358dup, NM_001278618.2:c.*2358dup, NG_034040.1:g.111461dup

Select item 14835880974.

rs1483588097 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ACCT [Show Flanks]
Chromosome:: 20:50584103 (GRCh38)
20:49200641 (GRCh37)
Canonical SPDI:: NC_000020.11:50584103:ACCT:ACCTACCT
Gene:: PTPN1 (Varview), MIR645 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACCTACCT=0./0 (ALFA)
ACCT=0.000029/4 (GnomAD)
ACCT=0.000034/9 (TOPMED)
HGVS:: NC_000020.11:g.50584104_50584107dup, NC_000020.10:g.49200641_49200644dup, NG_012119.2:g.78751_78754dup, NM_002827.4:c.*1389_*1392dup, NM_002827.3:c.*1389_*1392dup, NM_001278618.2:c.*1389_*1392dup, NM_001278618.1:c.*1389_*1392dup

Select item 14816069345.

rs1481606934 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:50583919 (GRCh38)
20:49200456 (GRCh37)
Canonical SPDI:: NC_000020.11:50583918:G:A
Gene:: PTPN1 (Varview), MIR645 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0.000142/2 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.50583919G>A, NC_000020.10:g.49200456G>A, NG_012119.2:g.78566G>A, NM_002827.4:c.*1204G>A, NM_002827.3:c.*1204G>A, NM_001278618.2:c.*1204G>A, NM_001278618.1:c.*1204G>A

Select item 14802930006.

rs1480293000 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 20:50585616 (GRCh38)
20:49202153 (GRCh37)
Canonical SPDI:: NC_000020.11:50585615:A:G,NC_000020.11:50585615:A:T
Gene:: PTPN1 (Varview), RIPOR3 (Varview), MIR645 (Varview)
Functional Consequence:: 500B_downstream_variant,upstream_transcript_variant,2KB_upstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000020.11:g.50585616A>G, NC_000020.11:g.50585616A>T, NC_000020.10:g.49202153A>G, NC_000020.10:g.49202153A>T, NG_012119.2:g.80263A>G, NG_012119.2:g.80263A>T, NG_034040.1:g.110915T>C, NG_034040.1:g.110915T>A

Select item 14802617277.

rs1480261727 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 20:50584647 (GRCh38)
20:49201184 (GRCh37)
Canonical SPDI:: NC_000020.11:50584646:C:G
Gene:: PTPN1 (Varview), MIR645 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.50584647C>G, NC_000020.10:g.49201184C>G, NG_012119.2:g.79294C>G, NM_002827.4:c.*1932C>G, NM_002827.3:c.*1932C>G, NM_001278618.2:c.*1932C>G, NM_001278618.1:c.*1932C>G, NG_034040.1:g.111884G>C

Select item 14799726958.

rs1479972695 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTT [Show Flanks]
Chromosome:: 20:50585033 (GRCh38)
20:49201571 (GRCh37)
Canonical SPDI:: NC_000020.11:50585033:CTT:CTTCTT
Gene:: PTPN1 (Varview), MIR645 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: CTTCTT=0./0 (ALFA)
CTT=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.50585034_50585036dup, NC_000020.10:g.49201571_49201573dup, NG_012119.2:g.79681_79683dup, NM_002827.4:c.*2319_*2321dup, NM_001278618.2:c.*2319_*2321dup, NG_034040.1:g.111495_111497dup

Select item 14796444119.

rs1479644411 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 20:50586121 (GRCh38)
20:49202658 (GRCh37)
Canonical SPDI:: NC_000020.11:50586120:G:T
Gene:: RIPOR3 (Varview), MIR645 (Varview)
Functional Consequence:: 3_prime_UTR_variant,downstream_transcript_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000020.11:g.50586121G>T, NC_000020.10:g.49202658G>T, NG_012119.2:g.80768G>T, NG_034040.1:g.110410C>A, NM_080829.4:c.*1111C>A, NM_080829.3:c.*1111C>A, NM_080829.2:c.*1111C>A, NR_110890.2:n.4537C>A, NR_110890.1:n.4525C>A, NM_001290268.2:c.*1111C>A, NM_001290268.1:c.*1111C>A, XM_006723713.5:c.*1111C>A, XM_006723713.4:c.*1111C>A, XM_006723713.3:c.*1111C>A, XM_006723713.2:c.*1111C>A, XM_006723713.1:c.*1111C>A, XM_011528579.3:c.*1111C>A, XM_011528579.2:c.*1111C>A, XM_011528579.1:c.*1111C>A, XM_011528585.3:c.*1111C>A, XM_011528585.2:c.*1111C>A, XM_011528585.1:c.*1111C>A, XM_047439912.1:c.*1111C>A, XM_047439913.1:c.*1111C>A, XM_017027681.1:c.*1111C>A

Select item 147955298210.

rs1479552982 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTT [Show Flanks]
Chromosome:: 20:50585254 (GRCh38)
20:49201792 (GRCh37)
Canonical SPDI:: NC_000020.11:50585254:CTT:CTTCTT
Gene:: PTPN1 (Varview), MIR645 (Varview)
Functional Consequence:: 500B_downstream_variant,upstream_transcript_variant,2KB_upstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTTCTT=0./0 (ALFA)
CTT=0.000007/1 (GnomAD)
CTT=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.50585255_50585257dup, NC_000020.10:g.49201792_49201794dup, NG_012119.2:g.79902_79904dup, NG_034040.1:g.111274_111276dup

Select item 147935212811.

rs1479352128 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 20:50585593 (GRCh38)
20:49202130 (GRCh37)
Canonical SPDI:: NC_000020.11:50585592:G:T
Gene:: PTPN1 (Varview), MIR645 (Varview)
Functional Consequence:: 500B_downstream_variant,upstream_transcript_variant,2KB_upstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.50585593G>T, NC_000020.10:g.49202130G>T, NG_012119.2:g.80240G>T, NG_034040.1:g.110938C>A

Select item 147405441012.

rs1474054410 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 20:50585255 (GRCh38)
20:49201792 (GRCh37)
Canonical SPDI:: NC_000020.11:50585254:C:G
Gene:: PTPN1 (Varview), MIR645 (Varview)
Functional Consequence:: 500B_downstream_variant,upstream_transcript_variant,2KB_upstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.50585255C>G, NC_000020.10:g.49201792C>G, NG_012119.2:g.79902C>G, NG_034040.1:g.111276G>C

Select item 147398271113.

rs1473982711 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:50584359 (GRCh38)
20:49200896 (GRCh37)
Canonical SPDI:: NC_000020.11:50584358:G:A
Gene:: PTPN1 (Varview), MIR645 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.50584359G>A, NC_000020.10:g.49200896G>A, NG_012119.2:g.79006G>A, NM_002827.4:c.*1644G>A, NM_002827.3:c.*1644G>A, NM_001278618.2:c.*1644G>A, NM_001278618.1:c.*1644G>A, NG_034040.1:g.112172C>T

Select item 147372375614.

rs1473723756 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 20:50584642 (GRCh38)
20:49201179 (GRCh37)
Canonical SPDI:: NC_000020.11:50584641:T:A
Gene:: PTPN1 (Varview), MIR645 (Varview)
Functional Consequence:: 3_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000020.11:g.50584642T>A, NC_000020.10:g.49201179T>A, NG_012119.2:g.79289T>A, NM_002827.4:c.*1927T>A, NM_002827.3:c.*1927T>A, NM_001278618.2:c.*1927T>A, NM_001278618.1:c.*1927T>A, NG_034040.1:g.111889A>T

Select item 147312425015.

rs1473124250 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:50585161 (GRCh38)
20:49201698 (GRCh37)
Canonical SPDI:: NC_000020.11:50585160:A:G
Gene:: PTPN1 (Varview), MIR645 (Varview)
Functional Consequence:: 3_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.50585161A>G, NC_000020.10:g.49201698A>G, NG_012119.2:g.79808A>G, NM_002827.4:c.*2446A>G, NM_001278618.2:c.*2446A>G, NG_034040.1:g.111370T>C

Select item 147309270116.

rs1473092701 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 20:50584213 (GRCh38)
20:49200750 (GRCh37)
Canonical SPDI:: NC_000020.11:50584212:A:T
Gene:: PTPN1 (Varview), MIR645 (Varview)
Functional Consequence:: 3_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000020.11:g.50584213A>T, NC_000020.10:g.49200750A>T, NG_012119.2:g.78860A>T, NM_002827.4:c.*1498A>T, NM_002827.3:c.*1498A>T, NM_001278618.2:c.*1498A>T, NM_001278618.1:c.*1498A>T, NG_034040.1:g.112318T>A

Select item 146896298917.

rs1468962989 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:50585135 (GRCh38)
20:49201672 (GRCh37)
Canonical SPDI:: NC_000020.11:50585134:A:G
Gene:: PTPN1 (Varview), MIR645 (Varview)
Functional Consequence:: 3_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.50585135A>G, NC_000020.10:g.49201672A>G, NG_012119.2:g.79782A>G, NM_002827.4:c.*2420A>G, NM_001278618.2:c.*2420A>G, NG_034040.1:g.111396T>C

Select item 146624212518.

rs1466242125 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 20:50583933 (GRCh38)
20:49200470 (GRCh37)
Canonical SPDI:: NC_000020.11:50583928:AGAGAG:AGAG
Gene:: PTPN1 (Varview), MIR645 (Varview)
Functional Consequence:: 3_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAG=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000020.11:g.50583929AG[2], NC_000020.10:g.49200466AG[2], NG_012119.2:g.78576AG[2], NM_002827.4:c.*1214AG[2], NM_002827.3:c.*1214AG[2], NM_001278618.2:c.*1214AG[2], NM_001278618.1:c.*1214AG[2]

Select item 146596486819.

rs1465964868 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:50584752 (GRCh38)
20:49201289 (GRCh37)
Canonical SPDI:: NC_000020.11:50584751:A:G
Gene:: PTPN1 (Varview), MIR645 (Varview)
Functional Consequence:: 3_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.50584752A>G, NC_000020.10:g.49201289A>G, NG_012119.2:g.79399A>G, NM_002827.4:c.*2037A>G, NM_002827.3:c.*2037A>G, NM_001278618.2:c.*2037A>G, NM_001278618.1:c.*2037A>G, NG_034040.1:g.111779T>C

Select item 146511936020.

rs1465119360 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:50584197 (GRCh38)
20:49200734 (GRCh37)
Canonical SPDI:: NC_000020.11:50584196:C:T
Gene:: PTPN1 (Varview), MIR645 (Varview)
Functional Consequence:: 3_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.50584197C>T, NC_000020.10:g.49200734C>T, NG_012119.2:g.78844C>T, NM_002827.4:c.*1482C>T, NM_002827.3:c.*1482C>T, NM_001278618.2:c.*1482C>T, NM_001278618.1:c.*1482C>T, NG_034040.1:g.112334G>A

<< First< Prev

Page of 32

Next >Last >>

dbSNP

Result Filters

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 635

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity