SNP Links for Gene (Select 28514) - SNP

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Select item 14912201821.

rs1491220182 has merged into rs143742416 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACACACACACAC>-,AC,ACAC,ACACAC,ACACACAC,ACACACACAC,ACACACACACACAC,ACACACACACACACAC,ACACACACACACACACAC,ACACACACACACACACACAC,ACACACACACACACACACACAC,ACACACACACACACACACACACACACACAC [Show Flanks]
Chromosome:: 6:170286815 (GRCh38)
6:170595903 (GRCh37)
Canonical SPDI:: NC_000006.12:170286802:ACACACACACACACACACACACAC:ACACACACACAC,NC_000006.12:170286802:ACACACACACACACACACACACAC:ACACACACACACAC,NC_000006.12:170286802:ACACACACACACACACACACACAC:ACACACACACACACAC,NC_000006.12:170286802:ACACACACACACACACACACACAC:ACACACACACACACACAC,NC_000006.12:170286802:ACACACACACACACACACACACAC:ACACACACACACACACACAC,NC_000006.12:170286802:ACACACACACACACACACACACAC:ACACACACACACACACACACAC,NC_000006.12:170286802:ACACACACACACACACACACACAC:ACACACACACACACACACACACACAC,NC_000006.12:170286802:ACACACACACACACACACACACAC:ACACACACACACACACACACACACACAC,NC_000006.12:170286802:ACACACACACACACACACACACAC:ACACACACACACACACACACACACACACAC,NC_000006.12:170286802:ACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACAC,NC_000006.12:170286802:ACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACAC,NC_000006.12:170286802:ACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACAC
Gene:: DLL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACAC=0./0 (ALFA)
-=0.3/12 (GENOME_DK)
-=0.30731/1539 (1000Genomes)
HGVS:: NC_000006.12:g.170286803AC[6], NC_000006.12:g.170286803AC[7], NC_000006.12:g.170286803AC[8], NC_000006.12:g.170286803AC[9], NC_000006.12:g.170286803AC[10], NC_000006.12:g.170286803AC[11], NC_000006.12:g.170286803AC[13], NC_000006.12:g.170286803AC[14], NC_000006.12:g.170286803AC[15], NC_000006.12:g.170286803AC[16], NC_000006.12:g.170286803AC[17], NC_000006.12:g.170286803AC[21], NC_000006.11:g.170595891AC[6], NC_000006.11:g.170595891AC[7], NC_000006.11:g.170595891AC[8], NC_000006.11:g.170595891AC[9], NC_000006.11:g.170595891AC[10], NC_000006.11:g.170595891AC[11], NC_000006.11:g.170595891AC[13], NC_000006.11:g.170595891AC[14], NC_000006.11:g.170595891AC[15], NC_000006.11:g.170595891AC[16], NC_000006.11:g.170595891AC[17], NC_000006.11:g.170595891AC[21], NG_027940.1:g.8784GT[6], NG_027940.1:g.8784GT[7], NG_027940.1:g.8784GT[8], NG_027940.1:g.8784GT[9], NG_027940.1:g.8784GT[10], NG_027940.1:g.8784GT[11], NG_027940.1:g.8784GT[13], NG_027940.1:g.8784GT[14], NG_027940.1:g.8784GT[15], NG_027940.1:g.8784GT[16], NG_027940.1:g.8784GT[17], NG_027940.1:g.8784GT[21], NT_187553.1:g.14041AC[6], NT_187553.1:g.14041AC[7], NT_187553.1:g.14041AC[8], NT_187553.1:g.14041AC[9], NT_187553.1:g.14041AC[10], NT_187553.1:g.14041AC[11], NT_187553.1:g.14041AC[13], NT_187553.1:g.14041AC[14], NT_187553.1:g.14041AC[15], NT_187553.1:g.14041AC[16], NT_187553.1:g.14041AC[17], NT_187553.1:g.14041AC[21]

Select item 14908071242.

rs1490807124 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:170289407 (GRCh38)
6:170598495 (GRCh37)
Canonical SPDI:: NC_000006.12:170289406:G:A
Gene:: DLL1 (Varview), FAM120B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: A=0.00004/1 (TOMMO)
HGVS:: NC_000006.12:g.170289407G>A, NC_000006.11:g.170598495G>A, NG_027940.1:g.6203C>T, NT_187553.1:g.16645G>A

Select item 14906998433.

rs1490699843 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:170291022 (GRCh38)
6:170600110 (GRCh37)
Canonical SPDI:: NC_000006.12:170291021:G:A
Gene:: DLL1 (Varview), FAM120B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant
HGVS:: NC_000006.12:g.170291022G>A, NC_000006.11:g.170600110G>A, NG_027940.1:g.4588C>T, NM_005618.4:c.-883C>T, NT_187553.1:g.18260G>A, XM_005266934.5:c.-883C>T, XM_005266934.3:c.-883C>T, XM_005266934.2:c.-883C>T, NM_001286379.2:c.-36G>A, NM_001286379.1:c.-36G>A

Select item 14906867454.

rs1490686745 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:170282618 (GRCh38)
6:170591706 (GRCh37)
Canonical SPDI:: NC_000006.12:170282617:A:C
Gene:: DLL1 (Varview)
Functional Consequence:: 3_prime_UTR_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.170282618A>C, NC_000006.11:g.170591706A>C, NG_027940.1:g.12992T>G, NM_005618.4:c.*256T>G, NM_005618.3:c.*256T>G, NT_187553.1:g.9856A>C, XM_005266934.5:c.*256T>G, XM_005266934.4:c.*256T>G, XM_005266934.3:c.*256T>G, XM_005266934.2:c.*256T>G, XM_005266934.1:c.*256T>G

Select item 14905219655.

rs1490521965 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:170282917 (GRCh38)
6:170592005 (GRCh37)
Canonical SPDI:: NC_000006.12:170282916:A:G
Gene:: DLL1 (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.170282917A>G, NC_000006.11:g.170592005A>G, NG_027940.1:g.12693T>C, NT_187553.1:g.10155A>G

Select item 14900741226.

rs1490074122 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:170288480 (GRCh38)
6:170597568 (GRCh37)
Canonical SPDI:: NC_000006.12:170288479:G:T
Gene:: DLL1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.170288480G>T, NC_000006.11:g.170597568G>T, NG_027940.1:g.7130C>A, NM_005618.4:c.429C>A, NM_005618.3:c.429C>A, NT_187553.1:g.15718G>T, XM_005266934.5:c.429C>A, XM_005266934.4:c.429C>A, XM_005266934.3:c.429C>A, XM_005266934.2:c.429C>A, XM_005266934.1:c.429C>A

Select item 14899239947.

rs1489923994 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:170289865 (GRCh38)
6:170598953 (GRCh37)
Canonical SPDI:: NC_000006.12:170289864:T:G
Gene:: DLL1 (Varview), FAM120B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,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.170289865T>G, NC_000006.11:g.170598953T>G, NG_027940.1:g.5745A>C, NT_187553.1:g.17103T>G

Select item 14895317698.

rs1489531769 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:170286287 (GRCh38)
6:170595375 (GRCh37)
Canonical SPDI:: NC_000006.12:170286286:G:A
Gene:: DLL1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.170286287G>A, NC_000006.11:g.170595375G>A, NG_027940.1:g.9323C>T, NM_005618.4:c.682C>T, NM_005618.3:c.682C>T, NT_187553.1:g.13525G>A, XM_005266934.5:c.682C>T, XM_005266934.4:c.682C>T, XM_005266934.3:c.682C>T, XM_005266934.2:c.682C>T, XM_005266934.1:c.682C>T, NP_005609.3:p.Pro228Ser, XP_005266991.1:p.Pro228Ser

Select item 14893862959.

rs1489386295 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:170287441 (GRCh38)
6:170596529 (GRCh37)
Canonical SPDI:: NC_000006.12:170287440:G:A
Gene:: DLL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000264/4 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
A=0.00067/3 (Estonian)
HGVS:: NC_000006.12:g.170287441G>A, NC_000006.11:g.170596529G>A, NG_027940.1:g.8169C>T, NT_187553.1:g.14679G>A

Select item 148839856910.

rs1488398569 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 6:170286550 (GRCh38)
6:170595638 (GRCh37)
Canonical SPDI:: NC_000006.12:170286549:T:A,NC_000006.12:170286549:T:C
Gene:: DLL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000267/34 (GnomAD)
A=0.001451/41 (TOMMO)
HGVS:: NC_000006.12:g.170286550T>A, NC_000006.12:g.170286550T>C, NC_000006.11:g.170595638T>A, NC_000006.11:g.170595638T>C, NG_027940.1:g.9060A>T, NG_027940.1:g.9060A>G, NT_187553.1:g.13788T>A, NT_187553.1:g.13788T>C

Select item 148836379211.

rs1488363792 has merged into rs913323138 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGGG>-,AGGGAGGG [Show Flanks]
Chromosome:: 6:170284428 (GRCh38)
6:170593516 (GRCh37)
Canonical SPDI:: NC_000006.12:170284416:GGGAGGGAGGGAGGG:GGGAGGGAGGG,NC_000006.12:170284416:GGGAGGGAGGGAGGG:GGGAGGGAGGGAGGGAGGG
Gene:: DLL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGAGGGAGGGAGGGAGGG=0./0 (ALFA)
HGVS:: NC_000006.12:g.170284420AGGG[2], NC_000006.12:g.170284420AGGG[4], NC_000006.11:g.170593508AGGG[2], NC_000006.11:g.170593508AGGG[4], NG_027940.1:g.11182TCCC[2], NG_027940.1:g.11182TCCC[4], NT_187553.1:g.11658AGGG[2], NT_187553.1:g.11658AGGG[4]

Select item 148813469212.

rs1488134692 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:170291120 (GRCh38)
6:170600208 (GRCh37)
Canonical SPDI:: NC_000006.12:170291119:C:T
Gene:: DLL1 (Varview), FAM120B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000006.12:g.170291120C>T, NC_000006.11:g.170600208C>T, NG_027940.1:g.4490G>A, NT_187553.1:g.18358C>T

Select item 148785179713.

rs1487851797 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 6:170286382 (GRCh38)
6:170595470 (GRCh37)
Canonical SPDI:: NC_000006.12:170286381:C:A,NC_000006.12:170286381:C:T
Gene:: DLL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.170286382C>A, NC_000006.12:g.170286382C>T, NC_000006.11:g.170595470C>A, NC_000006.11:g.170595470C>T, NG_027940.1:g.9228G>T, NG_027940.1:g.9228G>A, NT_187553.1:g.13620C>A, NT_187553.1:g.13620C>T

Select item 148745810914.

rs1487458109 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:170287665 (GRCh38)
6:170596753 (GRCh37)
Canonical SPDI:: NC_000006.12:170287664:G:A
Gene:: DLL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000021/3 (GnomAD)
A=0.000023/6 (TOPMED)
HGVS:: NC_000006.12:g.170287665G>A, NC_000006.11:g.170596753G>A, NG_027940.1:g.7945C>T, NT_187553.1:g.14903G>A

Select item 148743094515.

rs1487430945 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:170287196 (GRCh38)
6:170596284 (GRCh37)
Canonical SPDI:: NC_000006.12:170287195:G:A
Gene:: DLL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.170287196G>A, NC_000006.11:g.170596284G>A, NG_027940.1:g.8414C>T, NT_187553.1:g.14434G>A

Select item 148707540716.

rs1487075407 [Homo sapiens]

Variant type:: INS
Alleles:: ->TGTCC [Show Flanks]
Chromosome:: 6:170287736 (GRCh38)
6:170596825 (GRCh37)
Canonical SPDI:: NC_000006.12:170287736::TGTCC
Gene:: DLL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TGTCC=0./0 (ALFA)
TGTCC=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.170287736_170287737insTGTCC, NC_000006.11:g.170596824_170596825insTGTCC, NG_027940.1:g.7873_7874insGGACA, NT_187553.1:g.14974_14975insTGTCC

Select item 148695733417.

rs1486957334 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:170289793 (GRCh38)
6:170598881 (GRCh37)
Canonical SPDI:: NC_000006.12:170289792:C:T
Gene:: DLL1 (Varview), FAM120B (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.170289793C>T, NC_000006.11:g.170598881C>T, NG_027940.1:g.5817G>A, NM_005618.4:c.70G>A, NM_005618.3:c.70G>A, NT_187553.1:g.17031C>T, XM_005266934.5:c.70G>A, XM_005266934.4:c.70G>A, XM_005266934.3:c.70G>A, XM_005266934.2:c.70G>A, XM_005266934.1:c.70G>A, NP_005609.3:p.Val24Met, XP_005266991.1:p.Val24Met

Select item 148641745618.

rs1486417456 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:170283316 (GRCh38)
6:170592404 (GRCh37)
Canonical SPDI:: NC_000006.12:170283315:T:C
Gene:: DLL1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.170283316T>C, NC_000006.11:g.170592404T>C, NG_027940.1:g.12294A>G, NM_005618.4:c.1963A>G, NM_005618.3:c.1963A>G, NT_187553.1:g.10554T>C, NP_005609.3:p.Arg655Gly

Select item 148633121919.

rs1486331219 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:170283502 (GRCh38)
6:170592590 (GRCh37)
Canonical SPDI:: NC_000006.12:170283501:G:A
Gene:: DLL1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.170283502G>A, NC_000006.11:g.170592590G>A, NG_027940.1:g.12108C>T, NM_005618.4:c.1777C>T, NM_005618.3:c.1777C>T, NT_187553.1:g.10740G>A

Select item 148619138520.

rs1486191385 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:170292530 (GRCh38)
6:170601618 (GRCh37)
Canonical SPDI:: NC_000006.12:170292529:G:A
Gene:: DLL1 (Varview), FAM120B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_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_000006.12:g.170292530G>A, NC_000006.11:g.170601618G>A, NG_027940.1:g.3080C>T, NT_187553.1:g.19768G>A

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