SNP Links for Nucleotide (Select 966209876) - SNP

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Links from Nucleotide

Items: 1 to 20 of 356

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Select item 14862584081.

rs1486258408 [Homo sapiens]

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

Select item 14835812232.

rs1483581223 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:11048698 (GRCh38)
12:11201297 (GRCh37)
Canonical SPDI:: NC_000012.12:11048697:G:A
Gene:: PRH1 (Varview), PRH1-PRR4 (Varview), PRH1-TAS2R14 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.11048698G>A, NC_000012.11:g.11201297G>A, NG_002675.4:g.717C>T, NW_003571050.1:g.247404G>A, NT_187658.1:g.247698G>A, NW_003571047.1:g.247710G>A

Select item 14831256303.

rs1483125630 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:11048999 (GRCh38)
12:11201598 (GRCh37)
Canonical SPDI:: NC_000012.12:11048998:T:C
Gene:: PRH1 (Varview), PRH1-PRR4 (Varview), PRH1-TAS2R14 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.11048999T>C, NC_000012.11:g.11201598T>C, NG_002675.4:g.416A>G, NW_003571050.1:g.247705T>C, NT_187658.1:g.247999T>C, NW_003571047.1:g.248011T>C

Select item 14810004954.

rs1481000495 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:11048305 (GRCh38)
12:11200904 (GRCh37)
Canonical SPDI:: NC_000012.12:11048304:A:G
Gene:: PRH1 (Varview), PRH1-PRR4 (Varview), PRH1-TAS2R14 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.11048305A>G, NC_000012.11:g.11200904A>G, NG_002675.4:g.1110T>C, NW_003571050.1:g.247011A>G, NT_187658.1:g.247305A>G, NW_003571047.1:g.247317A>G

Select item 14803468455.

rs1480346845 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:11049323 (GRCh38)
12:11201922 (GRCh37)
Canonical SPDI:: NC_000012.12:11049322:C:G
Gene:: PRH1 (Varview), PRH1-PRR4 (Varview), PRH1-TAS2R14 (Varview)
Functional Consequence:: intron_variant,genic_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_000012.12:g.11049323C>G, NC_000012.11:g.11201922C>G, NG_002675.4:g.92G>C, NW_003571050.1:g.248029C>G, NT_187658.1:g.248323C>G, NW_003571047.1:g.248335C>G

Select item 14782677266.

rs1478267726 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:11048533 (GRCh38)
12:11201132 (GRCh37)
Canonical SPDI:: NC_000012.12:11048532:A:G
Gene:: PRH1 (Varview), PRH1-PRR4 (Varview), PRH1-TAS2R14 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.00016/1 (1000Genomes)
HGVS:: NC_000012.12:g.11048533A>G, NC_000012.11:g.11201132A>G, NG_002675.4:g.882T>C, NW_003571050.1:g.247239A>G, NT_187658.1:g.247533A>G, NW_003571047.1:g.247545A>G

Select item 14781965387.

rs1478196538 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:11049268 (GRCh38)
12:11201867 (GRCh37)
Canonical SPDI:: NC_000012.12:11049267:T:C
Gene:: PRH1 (Varview), PRH1-PRR4 (Varview), PRH1-TAS2R14 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000012.12:g.11049268T>C, NC_000012.11:g.11201867T>C, NG_002675.4:g.147A>G, NW_003571050.1:g.247974T>C, NT_187658.1:g.248268T>C, NW_003571047.1:g.248280T>C

Select item 14764906948.

rs1476490694 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:11048330 (GRCh38)
12:11200929 (GRCh37)
Canonical SPDI:: NC_000012.12:11048329:T:C
Gene:: PRH1 (Varview), PRH1-PRR4 (Varview), PRH1-TAS2R14 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.11048330T>C, NC_000012.11:g.11200929T>C, NG_002675.4:g.1085A>G, NW_003571050.1:g.247036T>C, NT_187658.1:g.247330T>C, NW_003571047.1:g.247342T>C

Select item 14758255079.

rs1475825507 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>- [Show Flanks]
Chromosome:: 12:11048697 (GRCh38)
12:11201296 (GRCh37)
Canonical SPDI:: NC_000012.12:11048695:GGG:G
Gene:: PRH1 (Varview), PRH1-PRR4 (Varview), PRH1-TAS2R14 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.06644/297 (ALFA)
-=0.05761/1628 (TOMMO)
-=0.06607/296 (Estonian)
HGVS:: NC_000012.12:g.11048697_11048698del, NC_000012.11:g.11201296_11201297del, NG_002675.4:g.718_719del, NW_003571050.1:g.247403_247404del, NT_187658.1:g.247697_247698del, NW_003571047.1:g.247709_247710del

Select item 147499022810.

rs1474990228 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 12:11049174 (GRCh38)
12:11201773 (GRCh37)
Canonical SPDI:: NC_000012.12:11049173:G:A,NC_000012.12:11049173:G:T
Gene:: PRH1 (Varview), PRH1-PRR4 (Varview), PRH1-TAS2R14 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000012.12:g.11049174G>A, NC_000012.12:g.11049174G>T, NC_000012.11:g.11201773G>A, NC_000012.11:g.11201773G>T, NG_002675.4:g.241C>T, NG_002675.4:g.241C>A, NW_003571050.1:g.247880G>A, NW_003571050.1:g.247880G>T, NT_187658.1:g.248174G>A, NT_187658.1:g.248174G>T, NW_003571047.1:g.248186G>A, NW_003571047.1:g.248186G>T

Select item 147442820411.

rs1474428204 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 12:11048912 (GRCh38)
12:11201511 (GRCh37)
Canonical SPDI:: NC_000012.12:11048911:G:A,NC_000012.12:11048911:G:T
Gene:: PRH1 (Varview), PRH1-PRR4 (Varview), PRH1-TAS2R14 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.11048912G>A, NC_000012.12:g.11048912G>T, NC_000012.11:g.11201511G>A, NC_000012.11:g.11201511G>T, NG_002675.4:g.503C>T, NG_002675.4:g.503C>A, NW_003571050.1:g.247618G>A, NW_003571050.1:g.247618G>T, NT_187658.1:g.247912G>A, NT_187658.1:g.247912G>T, NW_003571047.1:g.247924G>A, NW_003571047.1:g.247924G>T

Select item 147322566712.

rs1473225667 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATA>- [Show Flanks]
Chromosome:: 12:11049069 (GRCh38)
12:11201668 (GRCh37)
Canonical SPDI:: NC_000012.12:11049063:TAATAATA:TAATA
Gene:: PRH1 (Varview), PRH1-PRR4 (Varview), PRH1-TAS2R14 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TAATA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.11049066ATA[1], NC_000012.11:g.11201665ATA[1], NG_002675.4:g.346TTA[1], NW_003571050.1:g.247772ATA[1], NT_187658.1:g.248066ATA[1], NW_003571047.1:g.248078ATA[1]

Select item 147309027513.

rs1473090275 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:11048272 (GRCh38)
12:11200871 (GRCh37)
Canonical SPDI:: NC_000012.12:11048271:C:T
Gene:: PRH1 (Varview), PRH1-PRR4 (Varview), PRH1-TAS2R14 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.00051/6 (ALFA)
HGVS:: NC_000012.12:g.11048272C>T, NC_000012.11:g.11200871C>T, NG_002675.4:g.1143G>A, NW_003571050.1:g.246978C>T, NT_187658.1:g.247272C>T, NW_003571047.1:g.247284C>T

Select item 146990944114.

rs1469909441 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAGTTTGC>- [Show Flanks]
Chromosome:: 12:11048480 (GRCh38)
12:11201079 (GRCh37)
Canonical SPDI:: NC_000012.12:11048478:CAAGTTTGC:C
Gene:: PRH1 (Varview), PRH1-PRR4 (Varview), PRH1-TAS2R14 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000142/2 (ALFA)
-=0.000072/19 (TOPMED)
-=0.000107/15 (GnomAD)
HGVS:: NC_000012.12:g.11048480_11048487del, NC_000012.11:g.11201079_11201086del, NG_002675.4:g.929_936del, NW_003571050.1:g.247186_247193del, NT_187658.1:g.247480_247487del, NW_003571047.1:g.247492_247499del

Select item 146860652215.

rs1468606522 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:11049308 (GRCh38)
12:11201907 (GRCh37)
Canonical SPDI:: NC_000012.12:11049307:T:C
Gene:: PRH1 (Varview), PRH1-PRR4 (Varview), PRH1-TAS2R14 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.11049308T>C, NC_000012.11:g.11201907T>C, NG_002675.4:g.107A>G, NW_003571050.1:g.248014T>C, NT_187658.1:g.248308T>C, NW_003571047.1:g.248320T>C

Select item 146767007516.

rs1467670075 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:11049169 (GRCh38)
12:11201768 (GRCh37)
Canonical SPDI:: NC_000012.12:11049168:C:T
Gene:: PRH1 (Varview), PRH1-PRR4 (Varview), PRH1-TAS2R14 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.02584/422 (ALFA)
T=0.05184/1465 (TOMMO)
T=0.08417/539 (1000Genomes)
HGVS:: NC_000012.12:g.11049169C>T, NC_000012.11:g.11201768C>T, NG_002675.4:g.246G>A, NW_003571050.1:g.247875C>T, NT_187658.1:g.248169C>T, NW_003571047.1:g.248181C>T

Select item 146652874717.

rs1466528747 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:11049389 (GRCh38)
12:11201988 (GRCh37)
Canonical SPDI:: NC_000012.12:11049388:A:G
Gene:: PRH1 (Varview), PRH1-PRR4 (Varview), PRH1-TAS2R14 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000012.12:g.11049389A>G, NC_000012.11:g.11201988A>G, NG_002675.4:g.26T>C, NW_003571050.1:g.248095A>G, NT_187658.1:g.248389A>G, NW_003571047.1:g.248401A>G

Select item 146590580718.

rs1465905807 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 12:11049056 (GRCh38)
12:11201655 (GRCh37)
Canonical SPDI:: NC_000012.12:11049055:T:A,NC_000012.12:11049055:T:C
Gene:: PRH1 (Varview), PRH1-PRR4 (Varview), PRH1-TAS2R14 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.11049056T>A, NC_000012.12:g.11049056T>C, NC_000012.11:g.11201655T>A, NC_000012.11:g.11201655T>C, NG_002675.4:g.359A>T, NG_002675.4:g.359A>G, NW_003571050.1:g.247762T>A, NW_003571050.1:g.247762T>C, NT_187658.1:g.248056T>A, NT_187658.1:g.248056T>C, NW_003571047.1:g.248068T>A, NW_003571047.1:g.248068T>C

Select item 146553573719.

rs1465535737 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 12:11049274 (GRCh38)
12:11201873 (GRCh37)
Canonical SPDI:: NC_000012.12:11049273:G:
Gene:: PRH1 (Varview), PRH1-PRR4 (Varview), PRH1-TAS2R14 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.10108/841 (ALFA)
-=0.41318/2646 (1000Genomes)
-=0.48814/13794 (TOMMO)
HGVS:: NC_000012.12:g.11049274del, NC_000012.11:g.11201873del, NG_002675.4:g.141del, NW_003571050.1:g.247980del, NT_187658.1:g.248274del, NW_003571047.1:g.248286del

Select item 145999591420.

rs1459995914 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 12:11049268 (GRCh38)
12:11201867 (GRCh37)
Canonical SPDI:: NC_000012.12:11049267:TG:
Gene:: PRH1 (Varview), PRH1-PRR4 (Varview), PRH1-TAS2R14 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: -=0.00018/5 (TOMMO)
-=0.00025/6 (GnomAD)
HGVS:: NC_000012.12:g.11049268_11049269del, NC_000012.11:g.11201867_11201868del, NG_002675.4:g.146_147del, NW_003571050.1:g.247974_247975del, NT_187658.1:g.248268_248269del, NW_003571047.1:g.248280_248281del

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