SNP Links for Nucleotide (Select 350606389) - SNP

Links from Nucleotide

Items: 1 to 20 of 8354

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Select item 14915244871.

rs1491524487 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 11:117914258 (GRCh38)
11:117784973 (GRCh37)
Canonical SPDI:: NC_000011.10:117914252:ACACACA:ACACA
Gene:: TMPRSS13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ACACA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.117914254CA[2], NC_000011.9:g.117784969CA[2], NG_030336.1:g.20196GT[2]

Select item 14913184732.

rs1491318473 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AACATGCACATACACACACATGCACGCACACA [Show Flanks]
Chromosome:: 11:117914253 (GRCh38)
11:117784969 (GRCh37)
Canonical SPDI:: NC_000011.10:117914253:CACACAAACATGCACATACACACACATGCACGCACACA:CACACAAACATGCACATACACACACATGCACGCACACAAACATGCACATACACACACATGCACGCACACA
Gene:: TMPRSS13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: CACACAAACATGCACATACACACACATGCACG=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.117914260_117914291dup, NC_000011.9:g.117784975_117785006dup, NG_030336.1:g.20169_20200dup

Select item 14912468003.

rs1491246800 has merged into rs67414845 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA,AAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA [Show Flanks]
Chromosome:: 11:117930199 (GRCh38)
11:117800914 (GRCh37)
Canonical SPDI:: NC_000011.10:117930187:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000011.10:117930187:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:117930187:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:117930187:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:117930187:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:117930187:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:117930187:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000011.10:117930187:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
Gene:: TMPRSS13 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
-=0.4776/277 (NorthernSweden)
A=0.5/20 (GENOME_DK)
HGVS:: NC_000011.10:g.117930199_117930201del, NC_000011.10:g.117930200_117930201del, NC_000011.10:g.117930201del, NC_000011.10:g.117930201dup, NC_000011.10:g.117930200_117930201dup, NC_000011.10:g.117930198_117930201dup, NC_000011.10:g.117930195_117930201dup, NC_000011.10:g.117930193_117930201dup, NC_000011.9:g.117800914_117800916del, NC_000011.9:g.117800915_117800916del, NC_000011.9:g.117800916del, NC_000011.9:g.117800916dup, NC_000011.9:g.117800915_117800916dup, NC_000011.9:g.117800913_117800916dup, NC_000011.9:g.117800910_117800916dup, NC_000011.9:g.117800908_117800916dup, NG_030336.1:g.4264_4266del, NG_030336.1:g.4265_4266del, NG_030336.1:g.4266del, NG_030336.1:g.4266dup, NG_030336.1:g.4265_4266dup, NG_030336.1:g.4263_4266dup, NG_030336.1:g.4260_4266dup, NG_030336.1:g.4258_4266dup

Select item 14912011484.

rs1491201148 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 11:117914346 (GRCh38)
11:117785061 (GRCh37)
Canonical SPDI:: NC_000011.10:117914342:ACACA:ACA
Gene:: TMPRSS13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.117914344CA[1], NC_000011.9:g.117785059CA[1], NG_030336.1:g.20108GT[1]

Select item 14910778945.

rs1491077894 has merged into rs1555057480 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,A,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA [Show Flanks]
Chromosome:: 11:117923850 (GRCh38)
11:117794565 (GRCh37)
Canonical SPDI:: NC_000011.10:117923838:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000011.10:117923838:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:117923838:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:117923838:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:117923838:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:117923838:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:117923838:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000011.10:117923838:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000011.10:117923838:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:117923838:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:117923838:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
Gene:: TMPRSS13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
AAAA=0.02747/15 (NorthernSweden)
AAAA=0.2062/3378 (TOMMO)
HGVS:: NC_000011.10:g.117923850_117923856del, NC_000011.10:g.117923851_117923856del, NC_000011.10:g.117923854_117923856del, NC_000011.10:g.117923855_117923856del, NC_000011.10:g.117923856del, NC_000011.10:g.117923856dup, NC_000011.10:g.117923855_117923856dup, NC_000011.10:g.117923854_117923856dup, NC_000011.10:g.117923853_117923856dup, NC_000011.10:g.117923852_117923856dup, NC_000011.10:g.117923851_117923856dup, NC_000011.9:g.117794565_117794571del, NC_000011.9:g.117794566_117794571del, NC_000011.9:g.117794569_117794571del, NC_000011.9:g.117794570_117794571del, NC_000011.9:g.117794571del, NC_000011.9:g.117794571dup, NC_000011.9:g.117794570_117794571dup, NC_000011.9:g.117794569_117794571dup, NC_000011.9:g.117794568_117794571dup, NC_000011.9:g.117794567_117794571dup, NC_000011.9:g.117794566_117794571dup, NG_030336.1:g.10609_10615del, NG_030336.1:g.10610_10615del, NG_030336.1:g.10613_10615del, NG_030336.1:g.10614_10615del, NG_030336.1:g.10615del, NG_030336.1:g.10615dup, NG_030336.1:g.10614_10615dup, NG_030336.1:g.10613_10615dup, NG_030336.1:g.10612_10615dup, NG_030336.1:g.10611_10615dup, NG_030336.1:g.10610_10615dup

Select item 14909113326.

rs1490911332 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:117918429 (GRCh38)
11:117789144 (GRCh37)
Canonical SPDI:: NC_000011.10:117918428:C:G
Gene:: TMPRSS13 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.117918429C>G, NC_000011.9:g.117789144C>G, NG_030336.1:g.16025G>C, NM_001077263.3:c.431G>C, NM_001077263.2:c.431G>C, NM_001206789.2:c.431G>C, NM_001206789.1:c.431G>C, NM_001206790.2:c.431G>C, NM_001206790.1:c.431G>C, NM_001244995.2:c.431G>C, NM_001244995.1:c.431G>C, NM_032046.1:c.446G>C, NP_001070731.1:p.Arg144Thr, NP_001193718.1:p.Arg144Thr, NP_001193719.1:p.Arg144Thr, NP_001231924.1:p.Arg144Thr

Select item 14909069937.

rs1490906993 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:117907564 (GRCh38)
11:117778279 (GRCh37)
Canonical SPDI:: NC_000011.10:117907563:G:A,NC_000011.10:117907563:G:T
Gene:: TMPRSS13 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.117907564G>A, NC_000011.10:g.117907564G>T, NC_000011.9:g.117778279G>A, NC_000011.9:g.117778279G>T, NG_030336.1:g.26890C>T, NG_030336.1:g.26890C>A

Select item 14908756328.

rs1490875632 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 11:117905209 (GRCh38)
11:117775925 (GRCh37)
Canonical SPDI:: NC_000011.10:117905209::C
Gene:: TMPRSS13 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.117905209_117905210insC, NC_000011.9:g.117775924_117775925insC, NG_030336.1:g.29244_29245insG

Select item 14907961989.

rs1490796198 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:117928039 (GRCh38)
11:117798754 (GRCh37)
Canonical SPDI:: NC_000011.10:117928038:C:A
Gene:: TMPRSS13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.117928039C>A, NC_000011.9:g.117798754C>A, NG_030336.1:g.6415G>T

Select item 149056067010.

rs1490560670 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:117926695 (GRCh38)
11:117797410 (GRCh37)
Canonical SPDI:: NC_000011.10:117926694:G:A
Gene:: TMPRSS13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.0002/1 (ALFA)
A=0.0002/1 (Estonian)
HGVS:: NC_000011.10:g.117926695G>A, NC_000011.9:g.117797410G>A, NG_030336.1:g.7759C>T

Select item 149053735511.

rs1490537355 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 11:117921668 (GRCh38)
11:117792383 (GRCh37)
Canonical SPDI:: NC_000011.10:117921667:G:A,NC_000011.10:117921667:G:C
Gene:: TMPRSS13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000038/10 (TOPMED)
HGVS:: NC_000011.10:g.117921668G>A, NC_000011.10:g.117921668G>C, NC_000011.9:g.117792383G>A, NC_000011.9:g.117792383G>C, NG_030336.1:g.12786C>T, NG_030336.1:g.12786C>G

Select item 149052973212.

rs1490529732 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:117924826 (GRCh38)
11:117795541 (GRCh37)
Canonical SPDI:: NC_000011.10:117924825:C:T
Gene:: TMPRSS13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000011.10:g.117924826C>T, NC_000011.9:g.117795541C>T, NG_030336.1:g.9628G>A

Select item 149046360013.

rs1490463600 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:117905125 (GRCh38)
11:117775840 (GRCh37)
Canonical SPDI:: NC_000011.10:117905124:G:A
Gene:: TMPRSS13 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.117905125G>A, NC_000011.9:g.117775840G>A, NG_030336.1:g.29329C>T

Select item 149041432014.

rs1490414320 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:117928581 (GRCh38)
11:117799296 (GRCh37)
Canonical SPDI:: NC_000011.10:117928580:G:T
Gene:: TMPRSS13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.117928581G>T, NC_000011.9:g.117799296G>T, NG_030336.1:g.5873C>A

Select item 149009908315.

rs1490099083 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:117920390 (GRCh38)
11:117791105 (GRCh37)
Canonical SPDI:: NC_000011.10:117920389:G:A,NC_000011.10:117920389:G:T
Gene:: TMPRSS13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000011.10:g.117920390G>A, NC_000011.10:g.117920390G>T, NC_000011.9:g.117791105G>A, NC_000011.9:g.117791105G>T, NG_030336.1:g.14064C>T, NG_030336.1:g.14064C>A

Select item 149008225816.

rs1490082258 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:117906737 (GRCh38)
11:117777452 (GRCh37)
Canonical SPDI:: NC_000011.10:117906736:C:T
Gene:: TMPRSS13 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.117906737C>T, NC_000011.9:g.117777452C>T, NG_030336.1:g.27717G>A

Select item 149005890617.

rs1490058906 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:117904356 (GRCh38)
11:117775071 (GRCh37)
Canonical SPDI:: NC_000011.10:117904355:C:T
Gene:: TMPRSS13 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000011.10:g.117904356C>T, NC_000011.9:g.117775071C>T, NG_030336.1:g.30098G>A

Select item 148997364018.

rs1489973640 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:117904771 (GRCh38)
11:117775486 (GRCh37)
Canonical SPDI:: NC_000011.10:117904770:T:C
Gene:: TMPRSS13 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.117904771T>C, NC_000011.9:g.117775486T>C, NG_030336.1:g.29683A>G

Select item 148977793219.

rs1489777932 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:117928159 (GRCh38)
11:117798874 (GRCh37)
Canonical SPDI:: NC_000011.10:117928158:G:C
Gene:: TMPRSS13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.117928159G>C, NC_000011.9:g.117798874G>C, NG_030336.1:g.6295C>G

Select item 148974597620.

rs1489745976 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:117909805 (GRCh38)
11:117780520 (GRCh37)
Canonical SPDI:: NC_000011.10:117909804:C:T
Gene:: TMPRSS13 (Varview)
Functional Consequence:: splice_donor_variant
HGVS:: NC_000011.10:g.117909805C>T, NC_000011.9:g.117780520C>T, NG_030336.1:g.24649G>A

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