SNP Links for Nucleotide (Select 620597381) - SNP

Links from Nucleotide

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Select item 14853928831.

rs1485392883 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:127730597 (GRCh38)
8:128742843 (GRCh37)
Canonical SPDI:: NC_000008.11:127730596:A:G
Gene:: CASC11 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.127730597A>G, NC_000008.10:g.128742843A>G, NG_007161.2:g.164A>G, NR_117101.1:n.469T>C

Select item 14780705962.

rs1478070596 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:127730280 (GRCh38)
8:128742526 (GRCh37)
Canonical SPDI:: NC_000008.11:127730279:A:G
Gene:: CASC11 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.127730280A>G, NC_000008.10:g.128742526A>G, NR_117101.1:n.786T>C

Select item 14748967313.

rs1474896731 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:127730704 (GRCh38)
8:128742950 (GRCh37)
Canonical SPDI:: NC_000008.11:127730703:C:T
Gene:: CASC11 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.127730704C>T, NC_000008.10:g.128742950C>T, NG_007161.2:g.271C>T, NR_117101.1:n.362G>A

Select item 14676884674.

rs1467688467 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:127730263 (GRCh38)
8:128742509 (GRCh37)
Canonical SPDI:: NC_000008.11:127730262:A:G
Gene:: CASC11 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000008.11:g.127730263A>G, NC_000008.10:g.128742509A>G, NR_117101.1:n.803T>C

Select item 14661177715.

rs1466117771 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:127730812 (GRCh38)
8:128743058 (GRCh37)
Canonical SPDI:: NC_000008.11:127730811:G:A
Gene:: CASC11 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00005/7 (GnomAD)
A=0.000064/17 (TOPMED)
HGVS:: NC_000008.11:g.127730812G>A, NC_000008.10:g.128743058G>A, NG_007161.2:g.379G>A, NR_117101.1:n.254C>T

Select item 14654101676.

rs1465410167 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:127733855 (GRCh38)
8:128746101 (GRCh37)
Canonical SPDI:: NC_000008.11:127733854:G:A
Gene:: MYC (Varview), CASC11 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.127733855G>A, NC_000008.10:g.128746101G>A, NG_007161.2:g.3422G>A, NG_046332.1:g.212G>A, NR_117101.1:n.113C>T, NR_117102.1:n.113C>T

Select item 14562182177.

rs1456218217 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:127733922 (GRCh38)
8:128746168 (GRCh37)
Canonical SPDI:: NC_000008.11:127733921:C:T
Gene:: MYC (Varview), CASC11 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
T=0.000071/1 (TOMMO)
HGVS:: NC_000008.11:g.127733922C>T, NC_000008.10:g.128746168C>T, NG_007161.2:g.3489C>T, NG_046332.1:g.279C>T, NR_117101.1:n.46G>A, NR_117102.1:n.46G>A

Select item 14526906428.

rs1452690642 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:127733825 (GRCh38)
8:128746071 (GRCh37)
Canonical SPDI:: NC_000008.11:127733824:C:G
Gene:: MYC (Varview), CASC11 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_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_000008.11:g.127733825C>G, NC_000008.10:g.128746071C>G, NG_007161.2:g.3392C>G, NG_046332.1:g.182C>G, NR_117101.1:n.143G>C, NR_117102.1:n.143G>C

Select item 14494496019.

rs1449449601 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:127730506 (GRCh38)
8:128742752 (GRCh37)
Canonical SPDI:: NC_000008.11:127730505:C:T
Gene:: CASC11 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000008.11:g.127730506C>T, NC_000008.10:g.128742752C>T, NG_007161.2:g.73C>T, NR_117101.1:n.560G>A

Select item 144646532610.

rs1446465326 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:127733944 (GRCh38)
8:128746190 (GRCh37)
Canonical SPDI:: NC_000008.11:127733943:A:G
Gene:: MYC (Varview), CASC11 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.127733944A>G, NC_000008.10:g.128746190A>G, NG_007161.2:g.3511A>G, NG_046332.1:g.301A>G, NR_117101.1:n.24T>C, NR_117102.1:n.24T>C

Select item 143833434211.

rs1438334342 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:127730496 (GRCh38)
8:128742742 (GRCh37)
Canonical SPDI:: NC_000008.11:127730495:C:T
Gene:: CASC11 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
T=0.000036/5 (GnomAD)
HGVS:: NC_000008.11:g.127730496C>T, NC_000008.10:g.128742742C>T, NG_007161.2:g.63C>T, NR_117101.1:n.570G>A

Select item 143804481712.

rs1438044817 [Homo sapiens]

Variant type:: DEL
Alleles:: CTTT>- [Show Flanks]
Chromosome:: 8:127730546 (GRCh38)
8:128742792 (GRCh37)
Canonical SPDI:: NC_000008.11:127730545:CTTT:
Gene:: CASC11 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.127730546_127730549del, NC_000008.10:g.128742792_128742795del, NG_007161.2:g.113_116del, NR_117101.1:n.517_520del

Select item 143692040313.

rs1436920403 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:127730566 (GRCh38)
8:128742812 (GRCh37)
Canonical SPDI:: NC_000008.11:127730565:C:T
Gene:: CASC11 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000142/2 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000008.11:g.127730566C>T, NC_000008.10:g.128742812C>T, NG_007161.2:g.133C>T, NR_117101.1:n.500G>A

Select item 143371356514.

rs1433713565 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCT>- [Show Flanks]
Chromosome:: 8:127730539 (GRCh38)
8:128742785 (GRCh37)
Canonical SPDI:: NC_000008.11:127730536:CTTCT:CT
Gene:: CASC11 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.127730539_127730541del, NC_000008.10:g.128742785_128742787del, NG_007161.2:g.106_108del, NR_117101.1:n.527_529del

Select item 142440595115.

rs1424405951 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:127730829 (GRCh38)
8:128743075 (GRCh37)
Canonical SPDI:: NC_000008.11:127730828:T:C
Gene:: CASC11 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.127730829T>C, NC_000008.10:g.128743075T>C, NG_007161.2:g.396T>C, NR_117101.1:n.237A>G

Select item 141817748616.

rs1418177486 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 8:127730334 (GRCh38)
8:128742580 (GRCh37)
Canonical SPDI:: NC_000008.11:127730333:C:A
Gene:: CASC11 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.127730334C>A, NC_000008.10:g.128742580C>A, NR_117101.1:n.732G>T

Select item 141752605017.

rs1417526050 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 8:127730673 (GRCh38)
8:128742919 (GRCh37)
Canonical SPDI:: NC_000008.11:127730672:T:A
Gene:: CASC11 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000008.11:g.127730673T>A, NC_000008.10:g.128742919T>A, NG_007161.2:g.240T>A, NR_117101.1:n.393A>T

Select item 141712584918.

rs1417125849 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:127730381 (GRCh38)
8:128742627 (GRCh37)
Canonical SPDI:: NC_000008.11:127730380:C:T
Gene:: CASC11 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_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_000008.11:g.127730381C>T, NC_000008.10:g.128742627C>T, NR_117101.1:n.685G>A

Select item 141108272619.

rs1411082726 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 8:127730607 (GRCh38)
8:128742853 (GRCh37)
Canonical SPDI:: NC_000008.11:127730606:T:A
Gene:: CASC11 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_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_000008.11:g.127730607T>A, NC_000008.10:g.128742853T>A, NG_007161.2:g.174T>A, NR_117101.1:n.459A>T

Select item 140702823320.

rs1407028233 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:127733873 (GRCh38)
8:128746119 (GRCh37)
Canonical SPDI:: NC_000008.11:127733872:T:C
Gene:: MYC (Varview), CASC11 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.127733873T>C, NC_000008.10:g.128746119T>C, NG_007161.2:g.3440T>C, NG_046332.1:g.230T>C, NR_117101.1:n.95A>G, NR_117102.1:n.95A>G

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