SNP Links for Nucleotide (Select 269847229) - SNP

Links from Nucleotide

Items: 1 to 20 of 48

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Select item 14764368651.

rs1476436865 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:93733675 (GRCh38)
11:93466841 (GRCh37)
Canonical SPDI:: NC_000011.10:93733674:G:C
Gene:: TAF1D (Varview), SNORA8 (Varview), SNORA1 (Varview), SNORA18 (Varview), SNORD5 (Varview), MIR1304 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
C=0.000021/4 (GnomAD_exomes)
HGVS:: NC_000011.10:g.93733675G>C, NC_000011.9:g.93466841G>C, NR_031639.1:n.90C>G

Select item 14636853792.

rs1463685379 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:93733687 (GRCh38)
11:93466853 (GRCh37)
Canonical SPDI:: NC_000011.10:93733686:C:T
Gene:: TAF1D (Varview), SNORA8 (Varview), SNORA1 (Varview), SNORA18 (Varview), SNORD5 (Varview), MIR1304 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.93733687C>T, NC_000011.9:g.93466853C>T, NR_031639.1:n.78G>A

Select item 14421546813.

rs1442154681 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:93733696 (GRCh38)
11:93466862 (GRCh37)
Canonical SPDI:: NC_000011.10:93733695:T:G
Gene:: TAF1D (Varview), SNORA8 (Varview), SNORA1 (Varview), SNORA18 (Varview), SNORD5 (Varview), MIR1304 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: G=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.93733696T>G, NC_000011.9:g.93466862T>G, NR_031639.1:n.69A>C

Select item 14400445834.

rs1440044583 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:93733679 (GRCh38)
11:93466845 (GRCh37)
Canonical SPDI:: NC_000011.10:93733678:C:T
Gene:: TAF1D (Varview), SNORA8 (Varview), SNORA1 (Varview), SNORA18 (Varview), SNORD5 (Varview), MIR1304 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,2KB_upstream_variant,genic_downstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.93733679C>T, NC_000011.9:g.93466845C>T, NR_031639.1:n.86G>A

Select item 14136288125.

rs1413628812 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:93733721 (GRCh38)
11:93466887 (GRCh37)
Canonical SPDI:: NC_000011.10:93733720:G:C
Gene:: TAF1D (Varview), SNORA8 (Varview), SNORA1 (Varview), SNORA18 (Varview), SNORD5 (Varview), MIR1304 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant
HGVS:: NC_000011.10:g.93733721G>C, NC_000011.9:g.93466887G>C, NR_031639.1:n.44C>G

Select item 14126561256.

rs1412656125 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 11:93733717 (GRCh38)
11:93466884 (GRCh37)
Canonical SPDI:: NC_000011.10:93733717:C:CC
Gene:: TAF1D (Varview), SNORA8 (Varview), SNORA1 (Varview), SNORA18 (Varview), SNORD5 (Varview), MIR1304 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant
HGVS:: NC_000011.10:g.93733718dup, NC_000011.9:g.93466884dup, NR_031639.1:n.47dup

Select item 14111479587.

rs1411147958 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:93733742 (GRCh38)
11:93466908 (GRCh37)
Canonical SPDI:: NC_000011.10:93733741:C:T
Gene:: TAF1D (Varview), SNORA8 (Varview), SNORA1 (Varview), SNORA18 (Varview), SNORD5 (Varview), MIR1304 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant,intron_variant,genic_downstream_transcript_variant
HGVS:: NC_000011.10:g.93733742C>T, NC_000011.9:g.93466908C>T, NR_031639.1:n.23G>A

Select item 13983848228.

rs1398384822 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:93733714 (GRCh38)
11:93466880 (GRCh37)
Canonical SPDI:: NC_000011.10:93733713:G:T
Gene:: TAF1D (Varview), SNORA8 (Varview), SNORA1 (Varview), SNORA18 (Varview), SNORD5 (Varview), MIR1304 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.93733714G>T, NC_000011.9:g.93466880G>T, NR_031639.1:n.51C>A

Select item 13837966089.

rs1383796608 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:93733754 (GRCh38)
11:93466920 (GRCh37)
Canonical SPDI:: NC_000011.10:93733753:C:T
Gene:: TAF1D (Varview), SNORA8 (Varview), SNORA1 (Varview), SNORA18 (Varview), SNORD5 (Varview), MIR1304 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000036/5 (GnomAD)
HGVS:: NC_000011.10:g.93733754C>T, NC_000011.9:g.93466920C>T, NR_031639.1:n.11G>A

Select item 136255230310.

rs1362552303 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:93733733 (GRCh38)
11:93466899 (GRCh37)
Canonical SPDI:: NC_000011.10:93733732:C:T
Gene:: TAF1D (Varview), SNORA8 (Varview), SNORA1 (Varview), SNORA18 (Varview), SNORD5 (Varview), MIR1304 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.93733733C>T, NC_000011.9:g.93466899C>T, NR_031639.1:n.32G>A

Select item 136052072511.

rs1360520725 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:93733726 (GRCh38)
11:93466892 (GRCh37)
Canonical SPDI:: NC_000011.10:93733725:C:T
Gene:: TAF1D (Varview), SNORA8 (Varview), SNORA1 (Varview), SNORA18 (Varview), SNORD5 (Varview), MIR1304 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.93733726C>T, NC_000011.9:g.93466892C>T, NR_031639.1:n.39G>A

Select item 130066896012.

rs1300668960 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 11:93733682 (GRCh38)
11:93466848 (GRCh37)
Canonical SPDI:: NC_000011.10:93733681:T:C,NC_000011.10:93733681:T:G
Gene:: TAF1D (Varview), SNORA8 (Varview), SNORA1 (Varview), SNORA18 (Varview), SNORD5 (Varview), MIR1304 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000011.10:g.93733682T>C, NC_000011.10:g.93733682T>G, NC_000011.9:g.93466848T>C, NC_000011.9:g.93466848T>G, NR_031639.1:n.83A>G, NR_031639.1:n.83A>C

Select item 124976923713.

rs1249769237 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:93733705 (GRCh38)
11:93466871 (GRCh37)
Canonical SPDI:: NC_000011.10:93733704:C:T
Gene:: TAF1D (Varview), SNORA8 (Varview), SNORA1 (Varview), SNORA18 (Varview), SNORD5 (Varview), MIR1304 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
HGVS:: NC_000011.10:g.93733705C>T, NC_000011.9:g.93466871C>T, NR_031639.1:n.60G>A

Select item 122833238014.

rs1228332380 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:93733690 (GRCh38)
11:93466856 (GRCh37)
Canonical SPDI:: NC_000011.10:93733689:A:G
Gene:: TAF1D (Varview), SNORA8 (Varview), SNORA1 (Varview), SNORA18 (Varview), SNORD5 (Varview), MIR1304 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
HGVS:: NC_000011.10:g.93733690A>G, NC_000011.9:g.93466856A>G, NR_031639.1:n.75T>C

Select item 118317814415.

rs1183178144 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:93733683 (GRCh38)
11:93466849 (GRCh37)
Canonical SPDI:: NC_000011.10:93733682:T:G
Gene:: TAF1D (Varview), SNORA8 (Varview), SNORA1 (Varview), SNORA18 (Varview), SNORD5 (Varview), MIR1304 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,2KB_upstream_variant,genic_downstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000224/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000011.10:g.93733683T>G, NC_000011.9:g.93466849T>G, NR_031639.1:n.82A>C

Select item 116800918616.

rs1168009186 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:93733752 (GRCh38)
11:93466918 (GRCh37)
Canonical SPDI:: NC_000011.10:93733751:G:A
Gene:: TAF1D (Varview), SNORA8 (Varview), SNORA1 (Varview), SNORA18 (Varview), SNORD5 (Varview), MIR1304 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.93733752G>A, NC_000011.9:g.93466918G>A, NR_031639.1:n.13C>T

Select item 116122664517.

rs1161226645 [Homo sapiens]

Variant type:: INS
Alleles:: ->ATCCT [Show Flanks]
Chromosome:: 11:93733716 (GRCh38)
11:93466883 (GRCh37)
Canonical SPDI:: NC_000011.10:93733716::ATCCT
Gene:: TAF1D (Varview), SNORA8 (Varview), SNORA1 (Varview), SNORA18 (Varview), SNORD5 (Varview), MIR1304 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant,genic_downstream_transcript_variant
HGVS:: NC_000011.10:g.93733716_93733717insATCCT, NC_000011.9:g.93466882_93466883insATCCT, NR_031639.1:n.48_49insAGGAT

Select item 98522229118.

rs985222291 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:93733722 (GRCh38)
11:93466888 (GRCh37)
Canonical SPDI:: NC_000011.10:93733721:A:G
Gene:: TAF1D (Varview), SNORA8 (Varview), SNORA1 (Varview), SNORA18 (Varview), SNORD5 (Varview), MIR1304 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_downstream_transcript_variant,intron_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: G=0.0088/16 (Korea1K)
A=0.5/1 (Siberian)
HGVS:: NC_000011.10:g.93733722A>G, NC_000011.9:g.93466888A>G, NR_031639.1:n.43T>C

Select item 78089415319.

rs780894153 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:93733764 (GRCh38)
11:93466930 (GRCh37)
Canonical SPDI:: NC_000011.10:93733763:T:C
Gene:: TAF1D (Varview), SNORA8 (Varview), SNORA1 (Varview), SNORA18 (Varview), SNORD5 (Varview), MIR1304 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000084/1 (ALFA)
C=0.00001/1 (GnomAD_exomes)
C=0.000011/3 (TOPMED)
C=0.000016/1 (ExAC)
C=0.000029/4 (GnomAD)
HGVS:: NC_000011.10:g.93733764T>C, NC_000011.9:g.93466930T>C, NR_031639.1:n.1A>G

Select item 78050658020.

rs780506580 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:93733725 (GRCh38)
11:93466891 (GRCh37)
Canonical SPDI:: NC_000011.10:93733724:A:C
Gene:: TAF1D (Varview), SNORA8 (Varview), SNORA1 (Varview), SNORA18 (Varview), SNORD5 (Varview), MIR1304 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD_exomes)
C=0.000011/1 (ExAC)
HGVS:: NC_000011.10:g.93733725A>C, NC_000011.9:g.93466891A>C, NR_031639.1:n.40T>G

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