SNP Links for Nucleotide (Select 998614445) - SNP

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Links from Nucleotide

Items: 1 to 20 of 10518

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Select item 14914361011.

rs1491436101 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 6:105095055 (GRCh38)
6:105542930 (GRCh37)
Canonical SPDI:: NC_000006.12:105095054:GA:
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000009/1 (GnomAD)
HGVS:: NC_000006.12:g.105095055_105095056del, NC_000006.11:g.105542930_105542931del, NG_046732.1:g.47119_47120del

Select item 14914199102.

rs1491419910 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 6:105100617 (GRCh38)
6:105548492 (GRCh37)
Canonical SPDI:: NC_000006.12:105100616:TG:
Gene:: BVES (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.105100617_105100618del, NC_000006.11:g.105548492_105548493del, NG_046732.1:g.41557_41558del, NM_147147.4:c.*471_*472del, NM_147147.3:c.*471_*472del, NM_007073.4:c.*471_*472del, NM_001199563.2:c.*471_*472del, NM_001199563.1:c.*471_*472del

Select item 14913954703.

rs1491395470 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AT [Show Flanks]
Chromosome:: 6:105095055 (GRCh38)
6:105542931 (GRCh37)
Canonical SPDI:: NC_000006.12:105095055:AT:ATAT
Validated:: by frequency,by alfa
MAF:: ATAT=0./0 (ALFA)
AT=0.00008/8 (GnomAD)
HGVS:: NC_000006.12:g.105095056_105095057dup, NC_000006.11:g.105542931_105542932dup, NG_046732.1:g.47118_47119dup

Select item 14912201954.

rs1491220195 [Homo sapiens]

Variant type:: INS
Alleles:: ->T,TAT [Show Flanks]
Chromosome:: 6:105100354 (GRCh38)
6:105548230 (GRCh37)
Canonical SPDI:: NC_000006.12:105100354::T,NC_000006.12:105100354::TAT
Gene:: BVES (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
TAT=0.000008/1 (GnomAD)
HGVS:: NC_000006.12:g.105100354_105100355insT, NC_000006.12:g.105100354_105100355insTAT, NC_000006.11:g.105548229_105548230insT, NC_000006.11:g.105548229_105548230insTAT, NG_046732.1:g.41820_41821insA, NG_046732.1:g.41820_41821insATA, NM_147147.4:c.*734_*735insA, NM_147147.4:c.*734_*735insATA, NM_147147.3:c.*734_*735insA, NM_147147.3:c.*734_*735insATA, NM_007073.4:c.*734_*735insA, NM_007073.4:c.*734_*735insATA, NM_001199563.2:c.*734_*735insA, NM_001199563.2:c.*734_*735insATA, NM_001199563.1:c.*734_*735insA, NM_001199563.1:c.*734_*735insATA

Select item 14912022295.

rs1491202229 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 6:105109788 (GRCh38)
6:105557663 (GRCh37)
Canonical SPDI:: NC_000006.12:105109787:AG:
Gene:: BVES (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00007/1 (ALFA)
HGVS:: NC_000006.12:g.105109788_105109789del, NC_000006.11:g.105557663_105557664del, NG_046732.1:g.32386_32387del

Select item 14911095026.

rs1491109502 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT [Show Flanks]
Chromosome:: 6:105109788 (GRCh38)
6:105557664 (GRCh37)
Canonical SPDI:: NC_000006.12:105109788:GTGT:GTGTGT
Gene:: BVES (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGT=0./0 (ALFA)
GT=0.000004/1 (TOPMED)
GT=0.000008/1 (GnomAD)
HGVS:: NC_000006.12:g.105109789GT[3], NC_000006.11:g.105557664GT[3], NG_046732.1:g.32383AC[3]

Select item 14910501977.

rs1491050197 has merged into rs35412424 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA,AAAAAAAAAAA [Show Flanks]
Chromosome:: 6:105100522 (GRCh38)
6:105548397 (GRCh37)
Canonical SPDI:: NC_000006.12:105100509:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:105100509:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:105100509:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:105100509:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:105100509:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
Gene:: BVES (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.14537/728 (1000Genomes)
HGVS:: NC_000006.12:g.105100522_105100523del, NC_000006.12:g.105100523del, NC_000006.12:g.105100523dup, NC_000006.12:g.105100522_105100523dup, NC_000006.12:g.105100515_105100523dup, NC_000006.11:g.105548397_105548398del, NC_000006.11:g.105548398del, NC_000006.11:g.105548398dup, NC_000006.11:g.105548397_105548398dup, NC_000006.11:g.105548390_105548398dup, NG_046732.1:g.41664_41665del, NG_046732.1:g.41665del, NG_046732.1:g.41665dup, NG_046732.1:g.41664_41665dup, NG_046732.1:g.41657_41665dup, NM_147147.4:c.*578_*579del, NM_147147.4:c.*579del, NM_147147.4:c.*579dup, NM_147147.4:c.*578_*579dup, NM_147147.4:c.*571_*579dup, NM_147147.3:c.*578_*579del, NM_147147.3:c.*579del, NM_147147.3:c.*579dup, NM_147147.3:c.*578_*579dup, NM_147147.3:c.*571_*579dup, NM_007073.4:c.*578_*579del, NM_007073.4:c.*579del, NM_007073.4:c.*579dup, NM_007073.4:c.*578_*579dup, NM_007073.4:c.*571_*579dup, NM_001199563.2:c.*578_*579del, NM_001199563.2:c.*579del, NM_001199563.2:c.*579dup, NM_001199563.2:c.*578_*579dup, NM_001199563.2:c.*571_*579dup, NM_001199563.1:c.*578_*579del, NM_001199563.1:c.*579del, NM_001199563.1:c.*579dup, NM_001199563.1:c.*578_*579dup, NM_001199563.1:c.*571_*579dup

Select item 14909764178.

rs1490976417 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:105117859 (GRCh38)
6:105565734 (GRCh37)
Canonical SPDI:: NC_000006.12:105117858:A:G
Gene:: BVES (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.105117859A>G, NC_000006.11:g.105565734A>G, NG_046732.1:g.24316T>C

Select item 14909644799.

rs1490964479 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:105098770 (GRCh38)
6:105546645 (GRCh37)
Canonical SPDI:: NC_000006.12:105098769:A:G
Gene:: BVES (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000006.12:g.105098770A>G, NC_000006.11:g.105546645A>G, NG_046732.1:g.43405T>C, NM_147147.4:c.*2319T>C, NM_147147.3:c.*2319T>C, NM_007073.4:c.*2319T>C, NM_001199563.2:c.*2319T>C, NM_001199563.1:c.*2319T>C

Select item 149095928910.

rs1490959289 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:105133456 (GRCh38)
6:105581331 (GRCh37)
Canonical SPDI:: NC_000006.12:105133455:T:G
Gene:: BVES (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.105133456T>G, NC_000006.11:g.105581331T>G, NG_046732.1:g.8719A>C, NM_147147.4:c.122A>C, NM_147147.3:c.122A>C, NM_007073.4:c.122A>C, NM_001199563.2:c.122A>C, NM_001199563.1:c.122A>C, NP_671488.1:p.His41Pro, NP_009004.2:p.His41Pro, NP_001186492.1:p.His41Pro

Select item 149092094311.

rs1490920943 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:105136374 (GRCh38)
6:105584249 (GRCh37)
Canonical SPDI:: NC_000006.12:105136373:A:G
Gene:: BVES (Varview), BVES-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000006.12:g.105136374A>G, NC_000006.11:g.105584249A>G, NG_046732.1:g.5801T>C

Select item 149083541512.

rs1490835415 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:105095154 (GRCh38)
6:105543029 (GRCh37)
Canonical SPDI:: NC_000006.12:105095153:T:A
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.105095154T>A, NC_000006.11:g.105543029T>A, NG_046732.1:g.47021A>T

Select item 149072391213.

rs1490723912 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:105134671 (GRCh38)
6:105582546 (GRCh37)
Canonical SPDI:: NC_000006.12:105134670:A:C
Gene:: BVES (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000006.12:g.105134671A>C, NC_000006.11:g.105582546A>C, NG_046732.1:g.7504T>G

Select item 149065823614.

rs1490658236 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:105141213 (GRCh38)
6:105589088 (GRCh37)
Canonical SPDI:: NC_000006.12:105141212:T:C
Gene:: BVES-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.105141213T>C, NC_000006.11:g.105589088T>C, NG_046732.1:g.962A>G

Select item 149053473515.

rs1490534735 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:105117398 (GRCh38)
6:105565273 (GRCh37)
Canonical SPDI:: NC_000006.12:105117397:A:C
Gene:: BVES (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.105117398A>C, NC_000006.11:g.105565273A>C, NG_046732.1:g.24777T>G

Select item 149052931816.

rs1490529318 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 6:105115187 (GRCh38)
6:105563062 (GRCh37)
Canonical SPDI:: NC_000006.12:105115186:C:G,NC_000006.12:105115186:C:T
Gene:: BVES (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.105115187C>G, NC_000006.12:g.105115187C>T, NC_000006.11:g.105563062C>G, NC_000006.11:g.105563062C>T, NG_046732.1:g.26988G>C, NG_046732.1:g.26988G>A

Select item 149051876917.

rs1490518769 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 6:105126575 (GRCh38)
6:105574450 (GRCh37)
Canonical SPDI:: NC_000006.12:105126574:A:T
Gene:: BVES (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.105126575A>T, NC_000006.11:g.105574450A>T, NG_046732.1:g.15600T>A

Select item 149048685718.

rs1490486857 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:105118379 (GRCh38)
6:105566254 (GRCh37)
Canonical SPDI:: NC_000006.12:105118378:T:G
Gene:: BVES (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_000006.12:g.105118379T>G, NC_000006.11:g.105566254T>G, NG_046732.1:g.23796A>C

Select item 149047450119.

rs1490474501 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:105097543 (GRCh38)
6:105545418 (GRCh37)
Canonical SPDI:: NC_000006.12:105097542:A:G
Gene:: BVES (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.105097543A>G, NC_000006.11:g.105545418A>G, NG_046732.1:g.44632T>C, NM_147147.4:c.*3546T>C, NM_147147.3:c.*3546T>C, NM_007073.4:c.*3546T>C, NM_001199563.2:c.*3546T>C, NM_001199563.1:c.*3546T>C

Select item 149046950620.

rs1490469506 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:105133949 (GRCh38)
6:105581824 (GRCh37)
Canonical SPDI:: NC_000006.12:105133948:T:C
Gene:: BVES (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.105133949T>C, NC_000006.11:g.105581824T>C, NG_046732.1:g.8226A>G

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