SNP Links for Nucleotide (Select 194354012) - SNP

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Links from Nucleotide

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Select item 14748817481.

rs1474881748 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:47250726 (GRCh38)
3:47292216 (GRCh37)
Canonical SPDI:: NC_000003.12:47250725:T:C
Gene:: KIF9 (Varview), SNORD13J (Varview)
Functional Consequence:: genic_downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000224/1 (ALFA)
C=0.000021/3 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000003.12:g.47250726T>C, NC_000003.11:g.47292216T>C, NG_008261.1:g.1A>G

Select item 14677263572.

rs1467726357 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 3:47250442 (GRCh38)
3:47291932 (GRCh37)
Canonical SPDI:: NC_000003.12:47250441:C:G,NC_000003.12:47250441:C:T
Gene:: KIF9 (Varview), SNORD13J (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,downstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000108/2 (ALFA)
G=0.000064/17 (TOPMED)
T=0.000448/2 (Estonian)
HGVS:: NC_000003.12:g.47250442C>G, NC_000003.12:g.47250442C>T, NC_000003.11:g.47291932C>G, NC_000003.11:g.47291932C>T, NG_008261.1:g.285G>C, NG_008261.1:g.285G>A

Select item 14386900053.

rs1438690005 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 3:47250452 (GRCh38)
3:47291942 (GRCh37)
Canonical SPDI:: NC_000003.12:47250451:A:T
Gene:: KIF9 (Varview), SNORD13J (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.47250452A>T, NC_000003.11:g.47291942A>T, NG_008261.1:g.275T>A

Select item 14366465524.

rs1436646552 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:47250691 (GRCh38)
3:47292181 (GRCh37)
Canonical SPDI:: NC_000003.12:47250690:T:C
Gene:: KIF9 (Varview), SNORD13J (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.47250691T>C, NC_000003.11:g.47292181T>C, NG_008261.1:g.36A>G

Select item 14127118375.

rs1412711837 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 3:47250626 (GRCh38)
3:47292116 (GRCh37)
Canonical SPDI:: NC_000003.12:47250625:T:A
Gene:: KIF9 (Varview), SNORD13J (Varview)
Functional Consequence:: upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.47250626T>A, NC_000003.11:g.47292116T>A, NG_008261.1:g.101A>T

Select item 14114122786.

rs1411412278 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:47250723 (GRCh38)
3:47292213 (GRCh37)
Canonical SPDI:: NC_000003.12:47250722:A:G
Gene:: KIF9 (Varview), SNORD13J (Varview)
Functional Consequence:: upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.47250723A>G, NC_000003.11:g.47292213A>G, NG_008261.1:g.4T>C

Select item 14055639637.

rs1405563963 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:47250620 (GRCh38)
3:47292110 (GRCh37)
Canonical SPDI:: NC_000003.12:47250619:A:G
Gene:: KIF9 (Varview), SNORD13J (Varview)
Functional Consequence:: upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000003.12:g.47250620A>G, NC_000003.11:g.47292110A>G, NG_008261.1:g.107T>C

Select item 14029191088.

rs1402919108 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:47250511 (GRCh38)
3:47292001 (GRCh37)
Canonical SPDI:: NC_000003.12:47250510:C:T
Gene:: KIF9 (Varview), SNORD13J (Varview)
Functional Consequence:: 500B_downstream_variant,intron_variant,downstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000035/1 (TOMMO)
HGVS:: NC_000003.12:g.47250511C>T, NC_000003.11:g.47292001C>T, NG_008261.1:g.216G>A

Select item 13986730969.

rs1398673096 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 3:47250687 (GRCh38)
3:47292177 (GRCh37)
Canonical SPDI:: NC_000003.12:47250686:T:
Gene:: KIF9 (Varview), SNORD13J (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.47250687del, NC_000003.11:g.47292177del, NG_008261.1:g.40del

Select item 137977048510.

rs1379770485 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:47250605 (GRCh38)
3:47292095 (GRCh37)
Canonical SPDI:: NC_000003.12:47250604:C:T
Gene:: KIF9 (Varview), SNORD13J (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.47250605C>T, NC_000003.11:g.47292095C>T, NG_008261.1:g.122G>A, NR_145712.1:n.5G>A

Select item 137493799811.

rs1374937998 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:47250492 (GRCh38)
3:47291982 (GRCh37)
Canonical SPDI:: NC_000003.12:47250491:G:A
Gene:: KIF9 (Varview), SNORD13J (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.47250492G>A, NC_000003.11:g.47291982G>A, NG_008261.1:g.235C>T

Select item 136500497112.

rs1365004971 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGCTTTAAAAAG>- [Show Flanks]
Chromosome:: 3:47250446 (GRCh38)
3:47291936 (GRCh37)
Canonical SPDI:: NC_000003.12:47250442:AAGTGCTTTAAAAAG:AAG
Gene:: KIF9 (Varview), SNORD13J (Varview)
Functional Consequence:: genic_downstream_transcript_variant,500B_downstream_variant,intron_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAG=0./0 (ALFA)
-=0.000015/4 (TOPMED)
-=0.000156/1 (1000Genomes)
HGVS:: NC_000003.12:g.47250446_47250457del, NC_000003.11:g.47291936_47291947del, NG_008261.1:g.273_284del

Select item 135896958513.

rs1358969585 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:47250508 (GRCh38)
3:47291998 (GRCh37)
Canonical SPDI:: NC_000003.12:47250507:A:G
Gene:: KIF9 (Varview), SNORD13J (Varview)
Functional Consequence:: genic_downstream_transcript_variant,500B_downstream_variant,intron_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
G=0.000071/1 (TOMMO)
HGVS:: NC_000003.12:g.47250508A>G, NC_000003.11:g.47291998A>G, NG_008261.1:g.219T>C

Select item 135809604614.

rs1358096046 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:47250603 (GRCh38)
3:47292093 (GRCh37)
Canonical SPDI:: NC_000003.12:47250602:C:T
Gene:: KIF9 (Varview), SNORD13J (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.47250603C>T, NC_000003.11:g.47292093C>T, NG_008261.1:g.124G>A, NR_145712.1:n.7G>A

Select item 135651077615.

rs1356510776 [Homo sapiens]

Variant type:: DELINS
Alleles:: GCGTATGAACACACAA>-,GCGTATGAACACACAAGCGTATGAACACACAA [Show Flanks]
Chromosome:: 3:47250583 (GRCh38)
3:47292073 (GRCh37)
Canonical SPDI:: NC_000003.12:47250575:CACACAAGCGTATGAACACACAA:CACACAA,NC_000003.12:47250575:CACACAAGCGTATGAACACACAA:CACACAAGCGTATGAACACACAAGCGTATGAACACACAA
Gene:: KIF9 (Varview), SNORD13J (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
CACACAAGCGTATGAA=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.47250583_47250598del, NC_000003.12:g.47250583_47250598dup, NC_000003.11:g.47292073_47292088del, NC_000003.11:g.47292073_47292088dup, NG_008261.1:g.136_151del, NG_008261.1:g.136_151dup, NR_145712.1:n.19_34del, NR_145712.1:n.19_34dup

Select item 135281503916.

rs1352815039 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:47250470 (GRCh38)
3:47291960 (GRCh37)
Canonical SPDI:: NC_000003.12:47250469:A:G
Gene:: KIF9 (Varview), SNORD13J (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.47250470A>G, NC_000003.11:g.47291960A>G, NG_008261.1:g.257T>C

Select item 135160781317.

rs1351607813 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 3:47250549 (GRCh38)
3:47292039 (GRCh37)
Canonical SPDI:: NC_000003.12:47250548:G:A,NC_000003.12:47250548:G:C
Gene:: KIF9 (Varview), SNORD13J (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0./0 (GnomAD)
A=0.000342/1 (KOREAN)
A=0.000814/14 (TOMMO)
HGVS:: NC_000003.12:g.47250549G>A, NC_000003.12:g.47250549G>C, NC_000003.11:g.47292039G>A, NC_000003.11:g.47292039G>C, NG_008261.1:g.178C>T, NG_008261.1:g.178C>G, NR_145712.1:n.61C>T, NR_145712.1:n.61C>G

Select item 134798058718.

rs1347980587 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGTG>- [Show Flanks]
Chromosome:: 3:47250689 (GRCh38)
3:47292179 (GRCh37)
Canonical SPDI:: NC_000003.12:47250686:TGAGTG:TG
Gene:: KIF9 (Varview), SNORD13J (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.47250689_47250692del, NC_000003.11:g.47292179_47292182del, NG_008261.1:g.37_40del

Select item 133360771519.

rs1333607715 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:47250656 (GRCh38)
3:47292146 (GRCh37)
Canonical SPDI:: NC_000003.12:47250655:C:T
Gene:: KIF9 (Varview), SNORD13J (Varview)
Functional Consequence:: genic_downstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000003.12:g.47250656C>T, NC_000003.11:g.47292146C>T, NG_008261.1:g.71G>A

Select item 133266326520.

rs1332663265 has merged into rs948817588 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT [Show Flanks]
Chromosome:: 3:47250512 (GRCh38)
3:47292002 (GRCh37)
Canonical SPDI:: NC_000003.12:47250511:TTTTTTTTT:TTTTTTTT,NC_000003.12:47250511:TTTTTTTTT:TTTTTTTTTT
Gene:: KIF9 (Varview), SNORD13J (Varview)
Functional Consequence:: 500B_downstream_variant,non_coding_transcript_variant,intron_variant,downstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.000015/4 (TOPMED)
-=0.000035/1 (TOMMO)
HGVS:: NC_000003.12:g.47250520del, NC_000003.12:g.47250520dup, NC_000003.11:g.47292010del, NC_000003.11:g.47292010dup, NG_008261.1:g.215del, NG_008261.1:g.215dup