SNP Links for Gene (Select 93655) - SNP

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Select item 14915762511.

rs1491576251 has merged into rs34923443 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT [Show Flanks]
Chromosome:: 7:117207161 (GRCh38)
7:116847215 (GRCh37)
Canonical SPDI:: NC_000007.14:117207149:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000007.14:117207149:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000007.14:117207149:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:117207149:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:117207149:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT
Gene:: ST7 (Varview), ST7-OT3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTT=0./0 (ALFA)
T=0.3109/1557 (1000Genomes)
T=0.329/1220 (TWINSUK)
T=0.3293/1269 (ALSPAC)
T=0.35/14 (GENOME_DK)
T=0.4245/253 (NorthernSweden)
HGVS:: NC_000007.14:g.117207161_117207163del, NC_000007.14:g.117207162_117207163del, NC_000007.14:g.117207163del, NC_000007.14:g.117207163dup, NC_000007.14:g.117207162_117207163dup, NC_000007.13:g.116847215_116847217del, NC_000007.13:g.116847216_116847217del, NC_000007.13:g.116847217del, NC_000007.13:g.116847217dup, NC_000007.13:g.116847216_116847217dup, NG_047088.1:g.258835_258837del, NG_047088.1:g.258836_258837del, NG_047088.1:g.258837del, NG_047088.1:g.258837dup, NG_047088.1:g.258836_258837dup

Select item 14915574512.

rs1491557451 has merged into rs1196054887 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA [Show Flanks]
Chromosome:: 7:117200842 (GRCh38)
7:116840896 (GRCh37)
Canonical SPDI:: NC_000007.14:117200834:AAAAAAAAAA:AAAAAAA,NC_000007.14:117200834:AAAAAAAAAA:AAAAAAAA,NC_000007.14:117200834:AAAAAAAAAA:AAAAAAAAA,NC_000007.14:117200834:AAAAAAAAAA:AAAAAAAAAAA,NC_000007.14:117200834:AAAAAAAAAA:AAAAAAAAAAAA,NC_000007.14:117200834:AAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:117200834:AAAAAAAAAA:AAAAAAAAAAAAAA
Gene:: ST7 (Varview), ST7-OT3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
HGVS:: NC_000007.14:g.117200842_117200844del, NC_000007.14:g.117200843_117200844del, NC_000007.14:g.117200844del, NC_000007.14:g.117200844dup, NC_000007.14:g.117200843_117200844dup, NC_000007.14:g.117200842_117200844dup, NC_000007.14:g.117200841_117200844dup, NC_000007.13:g.116840896_116840898del, NC_000007.13:g.116840897_116840898del, NC_000007.13:g.116840898del, NC_000007.13:g.116840898dup, NC_000007.13:g.116840897_116840898dup, NC_000007.13:g.116840896_116840898dup, NC_000007.13:g.116840895_116840898dup, NG_047088.1:g.252516_252518del, NG_047088.1:g.252517_252518del, NG_047088.1:g.252518del, NG_047088.1:g.252518dup, NG_047088.1:g.252517_252518dup, NG_047088.1:g.252516_252518dup, NG_047088.1:g.252515_252518dup

Select item 14913672653.

rs1491367265 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 7:117208901 (GRCh38)
7:116848956 (GRCh37)
Canonical SPDI:: NC_000007.14:117208901::T
Gene:: ST7 (Varview), ST7-OT3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: T=0.00015/14 (GnomAD)
T=0.00135/22 (TOMMO)
HGVS:: NC_000007.14:g.117208901_117208902insT, NC_000007.13:g.116848955_116848956insT, NG_047088.1:g.260575_260576insT

Select item 14912930724.

rs1491293072 has merged into rs34923443 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT [Show Flanks]
Chromosome:: 7:117207161 (GRCh38)
7:116847215 (GRCh37)
Canonical SPDI:: NC_000007.14:117207149:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000007.14:117207149:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000007.14:117207149:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:117207149:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:117207149:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT
Gene:: ST7 (Varview), ST7-OT3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTT=0./0 (ALFA)
T=0.3109/1557 (1000Genomes)
T=0.329/1220 (TWINSUK)
T=0.3293/1269 (ALSPAC)
T=0.35/14 (GENOME_DK)
T=0.4245/253 (NorthernSweden)
HGVS:: NC_000007.14:g.117207161_117207163del, NC_000007.14:g.117207162_117207163del, NC_000007.14:g.117207163del, NC_000007.14:g.117207163dup, NC_000007.14:g.117207162_117207163dup, NC_000007.13:g.116847215_116847217del, NC_000007.13:g.116847216_116847217del, NC_000007.13:g.116847217del, NC_000007.13:g.116847217dup, NC_000007.13:g.116847216_116847217dup, NG_047088.1:g.258835_258837del, NG_047088.1:g.258836_258837del, NG_047088.1:g.258837del, NG_047088.1:g.258837dup, NG_047088.1:g.258836_258837dup

Select item 14911814415.

rs1491181441 has merged into rs1469878687 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>-,GGGG,GGGGGG [Show Flanks]
Chromosome:: 7:117208902 (GRCh38)
7:116848956 (GRCh37)
Canonical SPDI:: NC_000007.14:117208900:GGG:G,NC_000007.14:117208900:GGG:GGGGG,NC_000007.14:117208900:GGG:GGGGGGG
Gene:: ST7 (Varview), ST7-OT3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGG=0./0 (ALFA)
-=0.00025/4 (TOMMO)
-=0.00492/9 (Korea1K)
HGVS:: NC_000007.14:g.117208902_117208903del, NC_000007.14:g.117208902_117208903dup, NC_000007.14:g.117208903_117208904insGGGG, NC_000007.13:g.116848956_116848957del, NC_000007.13:g.116848956_116848957dup, NC_000007.13:g.116848957_116848958insGGGG, NG_047088.1:g.260576_260577del, NG_047088.1:g.260576_260577dup, NG_047088.1:g.260577_260578insGGGG

Select item 14911212526.

rs1491121252 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 7:117207149 (GRCh38)
7:116847203 (GRCh37)
Canonical SPDI:: NC_000007.14:117207148:AT:
Gene:: ST7 (Varview), ST7-OT3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000007.14:g.117207149_117207150del, NC_000007.13:g.116847203_116847204del, NG_047088.1:g.258823_258824del

Select item 14909479157.

rs1490947915 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 7:117195794 (GRCh38)
7:116835848 (GRCh37)
Canonical SPDI:: NC_000007.14:117195793:A:T
Gene:: ST7 (Varview), ST7-OT3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.117195794A>T, NC_000007.13:g.116835848A>T, NG_047088.1:g.247468A>T

Select item 14907321388.

rs1490732138 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 7:117196747 (GRCh38)
7:116836801 (GRCh37)
Canonical SPDI:: NC_000007.14:117196746:T:G
Gene:: ST7 (Varview), ST7-OT3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.117196747T>G, NC_000007.13:g.116836801T>G, NG_047088.1:g.248421T>G

Select item 14905123999.

rs1490512399 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:117200895 (GRCh38)
7:116840949 (GRCh37)
Canonical SPDI:: NC_000007.14:117200894:A:G
Gene:: ST7 (Varview), ST7-OT3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.117200895A>G, NC_000007.13:g.116840949A>G, NG_047088.1:g.252569A>G

Select item 149050968810.

rs1490509688 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:117204248 (GRCh38)
7:116844302 (GRCh37)
Canonical SPDI:: NC_000007.14:117204247:G:A
Gene:: ST7 (Varview), ST7-OT3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.117204248G>A, NC_000007.13:g.116844302G>A, NG_047088.1:g.255922G>A

Select item 149037913411.

rs1490379134 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:117186375 (GRCh38)
7:116826429 (GRCh37)
Canonical SPDI:: NC_000007.14:117186374:A:G
Gene:: ST7 (Varview), ST7-OT3 (Varview)
Functional Consequence:: intron_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_000007.14:g.117186375A>G, NC_000007.13:g.116826429A>G, NG_047088.1:g.238049A>G

Select item 149035315712.

rs1490353157 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:117187670 (GRCh38)
7:116827724 (GRCh37)
Canonical SPDI:: NC_000007.14:117187669:G:A
Gene:: ST7 (Varview), ST7-OT3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.117187670G>A, NC_000007.13:g.116827724G>A, NG_047088.1:g.239344G>A

Select item 149024233113.

rs1490242331 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:117197241 (GRCh38)
7:116837295 (GRCh37)
Canonical SPDI:: NC_000007.14:117197240:C:T
Gene:: ST7 (Varview), ST7-OT3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.117197241C>T, NC_000007.13:g.116837295C>T, NG_047088.1:g.248915C>T

Select item 149003768714.

rs1490037687 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:117202373 (GRCh38)
7:116842427 (GRCh37)
Canonical SPDI:: NC_000007.14:117202372:C:G
Gene:: ST7 (Varview), ST7-OT3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000007.14:g.117202373C>G, NC_000007.13:g.116842427C>G, NG_047088.1:g.254047C>G

Select item 149002748415.

rs1490027484 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:117188839 (GRCh38)
7:116828893 (GRCh37)
Canonical SPDI:: NC_000007.14:117188838:A:G
Gene:: ST7 (Varview), ST7-OT3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
G=0.000156/1 (1000Genomes)
HGVS:: NC_000007.14:g.117188839A>G, NC_000007.13:g.116828893A>G, NG_047088.1:g.240513A>G

Select item 148998363516.

rs1489983635 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:117205903 (GRCh38)
7:116845957 (GRCh37)
Canonical SPDI:: NC_000007.14:117205902:T:C
Gene:: ST7 (Varview), ST7-OT3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000007.14:g.117205903T>C, NC_000007.13:g.116845957T>C, NG_047088.1:g.257577T>C

Select item 148974148317.

rs1489741483 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:117207070 (GRCh38)
7:116847124 (GRCh37)
Canonical SPDI:: NC_000007.14:117207069:G:A
Gene:: ST7 (Varview), ST7-OT3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000007.14:g.117207070G>A, NC_000007.13:g.116847124G>A, NG_047088.1:g.258744G>A

Select item 148969208918.

rs1489692089 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:117181645 (GRCh38)
7:116821699 (GRCh37)
Canonical SPDI:: NC_000007.14:117181644:C:T
Gene:: ST7 (Varview), ST7-OT3 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.117181645C>T, NC_000007.13:g.116821699C>T, NG_047088.1:g.233319C>T

Select item 148955747719.

rs1489557477 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:117207572 (GRCh38)
7:116847626 (GRCh37)
Canonical SPDI:: NC_000007.14:117207571:C:G
Gene:: ST7 (Varview), ST7-OT3 (Varview)
Functional Consequence:: intron_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_000007.14:g.117207572C>G, NC_000007.13:g.116847626C>G, NG_047088.1:g.259246C>G

Select item 148941935320.

rs1489419353 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:117189892 (GRCh38)
7:116829946 (GRCh37)
Canonical SPDI:: NC_000007.14:117189891:C:A
Gene:: ST7 (Varview), ST7-OT3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.117189892C>A, NC_000007.13:g.116829946C>A, NG_047088.1:g.241566C>A

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