SNP Links for Nucleotide (Select 1146187888) - SNP

Links from Nucleotide

Items: 1 to 20 of 27

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Select item 14740000011.

rs1474000001 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:173865639 (GRCh38)
1:173834777 (GRCh37)
Canonical SPDI:: NC_000001.11:173865638:T:G
Gene:: SNORD81 (Varview), SNORD79 (Varview), SNORD80 (Varview), SNORD47 (Varview), SNORD44 (Varview), GAS5 (Varview), SNORD78 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant,downstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.173865639T>G, NC_000001.10:g.173834777T>G, NR_003944.2:n.48A>C, NR_003944.1:n.48A>C

Select item 14731113012.

rs1473111301 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:173865656 (GRCh38)
1:173834794 (GRCh37)
Canonical SPDI:: NC_000001.11:173865655:C:G
Gene:: SNORD81 (Varview), SNORD79 (Varview), SNORD80 (Varview), SNORD47 (Varview), SNORD44 (Varview), GAS5 (Varview), SNORD78 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant,downstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.173865656C>G, NC_000001.10:g.173834794C>G, NR_003944.2:n.31G>C, NR_003944.1:n.31G>C

Select item 14468796783.

rs1446879678 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:173865682 (GRCh38)
1:173834820 (GRCh37)
Canonical SPDI:: NC_000001.11:173865681:T:C
Gene:: SNORD81 (Varview), SNORD79 (Varview), SNORD80 (Varview), SNORD47 (Varview), SNORD44 (Varview), GAS5 (Varview), SNORD78 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,upstream_transcript_variant,non_coding_transcript_variant,500B_downstream_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.173865682T>C, NC_000001.10:g.173834820T>C, NR_003944.2:n.5A>G, NR_003944.1:n.5A>G

Select item 14236747504.

rs1423674750 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:173865629 (GRCh38)
1:173834767 (GRCh37)
Canonical SPDI:: NC_000001.11:173865628:G:C
Gene:: SNORD81 (Varview), SNORD79 (Varview), SNORD80 (Varview), SNORD47 (Varview), SNORD44 (Varview), GAS5 (Varview), SNORD78 (Varview)
Functional Consequence:: 500B_downstream_variant,2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.173865629G>C, NC_000001.10:g.173834767G>C, NR_003944.2:n.58C>G

Select item 13659733445.

rs1365973344 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:173865648 (GRCh38)
1:173834786 (GRCh37)
Canonical SPDI:: NC_000001.11:173865647:G:C
Gene:: SNORD81 (Varview), SNORD79 (Varview), SNORD80 (Varview), SNORD47 (Varview), SNORD44 (Varview), GAS5 (Varview), SNORD78 (Varview)
Functional Consequence:: downstream_transcript_variant,upstream_transcript_variant,intron_variant,500B_downstream_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000001.11:g.173865648G>C, NC_000001.10:g.173834786G>C, NR_003944.2:n.39C>G, NR_003944.1:n.39C>G

Select item 13643855016.

rs1364385501 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:173865670 (GRCh38)
1:173834808 (GRCh37)
Canonical SPDI:: NC_000001.11:173865669:G:C
Gene:: SNORD81 (Varview), SNORD79 (Varview), SNORD80 (Varview), SNORD47 (Varview), SNORD44 (Varview), GAS5 (Varview), SNORD78 (Varview)
Functional Consequence:: downstream_transcript_variant,upstream_transcript_variant,intron_variant,500B_downstream_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.173865670G>C, NC_000001.10:g.173834808G>C, NR_003944.2:n.17C>G, NR_003944.1:n.17C>G

Select item 13161317957.

rs1316131795 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:173865647 (GRCh38)
1:173834785 (GRCh37)
Canonical SPDI:: NC_000001.11:173865646:T:C
Gene:: SNORD81 (Varview), SNORD79 (Varview), SNORD80 (Varview), SNORD47 (Varview), SNORD44 (Varview), GAS5 (Varview), SNORD78 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.173865647T>C, NC_000001.10:g.173834785T>C, NR_003944.2:n.40A>G, NR_003944.1:n.40A>G

Select item 12903597288.

rs1290359728 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:173865659 (GRCh38)
1:173834797 (GRCh37)
Canonical SPDI:: NC_000001.11:173865658:G:A
Gene:: SNORD81 (Varview), SNORD79 (Varview), SNORD80 (Varview), SNORD47 (Varview), SNORD44 (Varview), GAS5 (Varview), SNORD78 (Varview)
Functional Consequence:: 500B_downstream_variant,2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.173865659G>A, NC_000001.10:g.173834797G>A, NR_003944.2:n.28C>T, NR_003944.1:n.28C>T

Select item 12420693339.

rs1242069333 [Homo sapiens]

Variant type:: DELINS
Alleles:: GACA>- [Show Flanks]
Chromosome:: 1:173865663 (GRCh38)
1:173834801 (GRCh37)
Canonical SPDI:: NC_000001.11:173865660:CAGACA:CA
Gene:: SNORD81 (Varview), SNORD79 (Varview), SNORD80 (Varview), SNORD47 (Varview), SNORD44 (Varview), GAS5 (Varview), SNORD78 (Varview)
Functional Consequence:: 2KB_upstream_variant,downstream_transcript_variant,intron_variant,non_coding_transcript_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CA=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.173865663_173865666del, NC_000001.10:g.173834801_173834804del, NR_003944.2:n.23_26del, NR_003944.1:n.23_26del

Select item 123574907110.

rs1235749071 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:173865677 (GRCh38)
1:173834815 (GRCh37)
Canonical SPDI:: NC_000001.11:173865676:A:G
Gene:: SNORD81 (Varview), SNORD79 (Varview), SNORD80 (Varview), SNORD47 (Varview), SNORD44 (Varview), GAS5 (Varview), SNORD78 (Varview)
Functional Consequence:: 2KB_upstream_variant,downstream_transcript_variant,intron_variant,non_coding_transcript_variant,upstream_transcript_variant,500B_downstream_variant
HGVS:: NC_000001.11:g.173865677A>G, NC_000001.10:g.173834815A>G, NR_003944.2:n.10T>C, NR_003944.1:n.10T>C

Select item 118879154211.

rs1188791542 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:173865667 (GRCh38)
1:173834805 (GRCh37)
Canonical SPDI:: NC_000001.11:173865666:T:C
Gene:: SNORD81 (Varview), SNORD79 (Varview), SNORD80 (Varview), SNORD47 (Varview), SNORD44 (Varview), GAS5 (Varview), SNORD78 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.173865667T>C, NC_000001.10:g.173834805T>C, NR_003944.2:n.20A>G, NR_003944.1:n.20A>G

Select item 116363593412.

rs1163635934 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:173865640 (GRCh38)
1:173834778 (GRCh37)
Canonical SPDI:: NC_000001.11:173865639:G:A
Gene:: SNORD81 (Varview), SNORD79 (Varview), SNORD80 (Varview), SNORD47 (Varview), SNORD44 (Varview), GAS5 (Varview), SNORD78 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant,500B_downstream_variant,intron_variant,downstream_transcript_variant
HGVS:: NC_000001.11:g.173865640G>A, NC_000001.10:g.173834778G>A, NR_003944.2:n.47C>T, NR_003944.1:n.47C>T

Select item 115801978713.

rs1158019787 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:173865672 (GRCh38)
1:173834810 (GRCh37)
Canonical SPDI:: NC_000001.11:173865671:T:A
Gene:: SNORD81 (Varview), SNORD79 (Varview), SNORD80 (Varview), SNORD47 (Varview), SNORD44 (Varview), GAS5 (Varview), SNORD78 (Varview)
Functional Consequence:: downstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant,intron_variant,500B_downstream_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000001.11:g.173865672T>A, NC_000001.10:g.173834810T>A, NR_003944.2:n.15A>T, NR_003944.1:n.15A>T

Select item 78096809314.

rs780968093 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:173865681 (GRCh38)
1:173834819 (GRCh37)
Canonical SPDI:: NC_000001.11:173865680:T:C
Gene:: SNORD81 (Varview), SNORD79 (Varview), SNORD80 (Varview), SNORD47 (Varview), SNORD44 (Varview), GAS5 (Varview), SNORD78 (Varview)
Functional Consequence:: non_coding_transcript_variant,downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000009/1 (ExAC)
C=0.000014/2 (GnomAD)
C=0.000015/4 (TOPMED)
C=0.000026/6 (GnomAD_exomes)
HGVS:: NC_000001.11:g.173865681T>C, NC_000001.10:g.173834819T>C, NR_003944.2:n.6A>G, NR_003944.1:n.6A>G

Select item 78045152515.

rs780451525 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:173865635 (GRCh38)
1:173834773 (GRCh37)
Canonical SPDI:: NC_000001.11:173865634:C:G,NC_000001.11:173865634:C:T
Gene:: SNORD81 (Varview), SNORD79 (Varview), SNORD80 (Varview), SNORD47 (Varview), SNORD44 (Varview), GAS5 (Varview), SNORD78 (Varview)
Functional Consequence:: non_coding_transcript_variant,downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000009/1 (ExAC)
T=0.000042/11 (TOPMED)
T=0.000043/6 (GnomAD)
HGVS:: NC_000001.11:g.173865635C>G, NC_000001.11:g.173865635C>T, NC_000001.10:g.173834773C>G, NC_000001.10:g.173834773C>T, NR_003944.2:n.52G>C, NR_003944.2:n.52G>A, NR_003944.1:n.52G>C, NR_003944.1:n.52G>A

Select item 77736434716.

rs777364347 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 1:173865635 (GRCh38)
1:173834773 (GRCh37)
Canonical SPDI:: NC_000001.11:173865634:CC:C
Gene:: SNORD81 (Varview), SNORD79 (Varview), SNORD80 (Varview), SNORD47 (Varview), SNORD44 (Varview), GAS5 (Varview), SNORD78 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000009/1 (ExAC)
-=0.000009/2 (GnomAD_exomes)
-=0.000014/2 (GnomAD)
-=0.000279/2 (GoESP)
HGVS:: NC_000001.11:g.173865636del, NC_000001.10:g.173834774del, NR_003944.2:n.52del, NR_003944.1:n.52del

Select item 77074357517.

rs770743575 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:173865671 (GRCh38)
1:173834809 (GRCh37)
Canonical SPDI:: NC_000001.11:173865670:A:G
Gene:: SNORD81 (Varview), SNORD79 (Varview), SNORD80 (Varview), SNORD47 (Varview), SNORD44 (Varview), GAS5 (Varview), SNORD78 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,downstream_transcript_variant,non_coding_transcript_variant,500B_downstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000009/1 (ExAC)
G=0.000013/3 (GnomAD_exomes)
G=0.000342/1 (KOREAN)
G=0.000354/6 (TOMMO)
HGVS:: NC_000001.11:g.173865671A>G, NC_000001.10:g.173834809A>G, NR_003944.2:n.16T>C, NR_003944.1:n.16T>C

Select item 77039707918.

rs770397079 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACA>- [Show Flanks]
Chromosome:: 1:173865675 (GRCh38)
1:173834813 (GRCh37)
Canonical SPDI:: NC_000001.11:173865672:CAACA:CA
Gene:: SNORD81 (Varview), SNORD79 (Varview), SNORD80 (Varview), SNORD47 (Varview), SNORD44 (Varview), GAS5 (Varview), SNORD78 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,downstream_transcript_variant,non_coding_transcript_variant,500B_downstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CA=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000013/3 (GnomAD_exomes)
-=0.000014/2 (GnomAD)
-=0.000018/2 (ExAC)
-=0.000035/1 (TOMMO)
-=0.000946/7 (GoESP)
HGVS:: NC_000001.11:g.173865675_173865677del, NC_000001.10:g.173834813_173834815del, NR_003944.2:n.12_14del, NR_003944.1:n.12_14del

Select item 75785679719.

rs757856797 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 1:173865653 (GRCh38)
1:173834791 (GRCh37)
Canonical SPDI:: NC_000001.11:173865652:T:A,NC_000001.11:173865652:T:C
Gene:: SNORD81 (Varview), SNORD79 (Varview), SNORD80 (Varview), SNORD47 (Varview), SNORD44 (Varview), GAS5 (Varview), SNORD78 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,downstream_transcript_variant,500B_downstream_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.173865653T>A, NC_000001.11:g.173865653T>C, NC_000001.10:g.173834791T>A, NC_000001.10:g.173834791T>C, NR_003944.2:n.34A>T, NR_003944.2:n.34A>G, NR_003944.1:n.34A>T, NR_003944.1:n.34A>G

Select item 75648177320.

rs756481773 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:173865633 (GRCh38)
1:173834771 (GRCh37)
Canonical SPDI:: NC_000001.11:173865632:T:C
Gene:: SNORD81 (Varview), SNORD79 (Varview), SNORD80 (Varview), SNORD47 (Varview), SNORD44 (Varview), GAS5 (Varview), SNORD78 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,downstream_transcript_variant,500B_downstream_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000009/1 (ExAC)
C=0.000009/2 (GnomAD_exomes)
C=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.173865633T>C, NC_000001.10:g.173834771T>C, NR_003944.2:n.54A>G, NR_003944.1:n.54A>G

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