SNP Links for Gene (Select 677781) - SNP

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Select item 14886807901.

rs1488680790 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:77087623 (GRCh38)
17:75083705 (GRCh37)
Canonical SPDI:: NC_000017.11:77087622:T:C
Gene:: SEC14L1 (Varview), SNHG20 (Varview), SCARNA16 (Varview), MIR6516 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_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_000017.11:g.77087623T>C, NC_000017.10:g.75083705T>C, NG_050640.2:g.3981T>C

Select item 14881203202.

rs1488120320 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 17:77089498 (GRCh38)
17:75085580 (GRCh37)
Canonical SPDI:: NC_000017.11:77089497:C:
Gene:: SEC14L1 (Varview), SNHG20 (Varview), SCARNA16 (Varview), MIR6516 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
-=0.000026/6 (GnomAD_exomes)
HGVS:: NC_000017.11:g.77089498del, NC_000017.10:g.75085580del, NG_050640.2:g.5856del

Select item 14869179683.

rs1486917968 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:77089791 (GRCh38)
17:75085873 (GRCh37)
Canonical SPDI:: NC_000017.11:77089790:G:A
Gene:: SEC14L1 (Varview), SNHG20 (Varview), SCARNA16 (Varview), MIR6516 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: A=0.00014/4 (TOMMO)
HGVS:: NC_000017.11:g.77089791G>A, NC_000017.10:g.75085873G>A, NG_050640.2:g.6149G>A

Select item 14868535134.

rs1486853513 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:77089821 (GRCh38)
17:75085903 (GRCh37)
Canonical SPDI:: NC_000017.11:77089820:G:A
Gene:: SEC14L1 (Varview), SNHG20 (Varview), SCARNA16 (Varview), MIR6516 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.77089821G>A, NC_000017.10:g.75085903G>A, NG_050640.2:g.6179G>A

Select item 14828171625.

rs1482817162 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:77088187 (GRCh38)
17:75084269 (GRCh37)
Canonical SPDI:: NC_000017.11:77088186:C:T
Gene:: SEC14L1 (Varview), SNHG20 (Varview), SCARNA16 (Varview), MIR6516 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.77088187C>T, NC_000017.10:g.75084269C>T, NG_050640.2:g.4545C>T

Select item 14824114476.

rs1482411447 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:77089727 (GRCh38)
17:75085809 (GRCh37)
Canonical SPDI:: NC_000017.11:77089726:A:G
Gene:: SEC14L1 (Varview), SNHG20 (Varview), SCARNA16 (Varview), MIR6516 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.77089727A>G, NC_000017.10:g.75085809A>G, NG_050640.2:g.6085A>G

Select item 14814837427.

rs1481483742 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:77088682 (GRCh38)
17:75084764 (GRCh37)
Canonical SPDI:: NC_000017.11:77088681:A:G
Gene:: SEC14L1 (Varview), SNHG20 (Varview), SCARNA16 (Varview), MIR6516 (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_000017.11:g.77088682A>G, NC_000017.10:g.75084764A>G, NG_050640.2:g.5040A>G, NM_001204408.1:c.-626A>G, NR_027058.1:n.40A>G

Select item 14793551128.

rs1479355112 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:77087454 (GRCh38)
17:75083536 (GRCh37)
Canonical SPDI:: NC_000017.11:77087453:C:T
Gene:: SEC14L1 (Varview), SNHG20 (Varview), SCARNA16 (Varview), MIR6516 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000017.11:g.77087454C>T, NC_000017.10:g.75083536C>T, NG_050640.2:g.3812C>T

Select item 14772670809.

rs1477267080 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:77088222 (GRCh38)
17:75084304 (GRCh37)
Canonical SPDI:: NC_000017.11:77088221:T:G
Gene:: SEC14L1 (Varview), SNHG20 (Varview), SCARNA16 (Varview), MIR6516 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.0002/1 (ALFA)
HGVS:: NC_000017.11:g.77088222T>G, NC_000017.10:g.75084304T>G, NG_050640.2:g.4580T>G

Select item 147643041510.

rs1476430415 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:77087614 (GRCh38)
17:75083696 (GRCh37)
Canonical SPDI:: NC_000017.11:77087613:T:C
Gene:: SEC14L1 (Varview), SNHG20 (Varview), SCARNA16 (Varview), MIR6516 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.77087614T>C, NC_000017.10:g.75083696T>C, NG_050640.2:g.3972T>C

Select item 147638946011.

rs1476389460 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:77089432 (GRCh38)
17:75085514 (GRCh37)
Canonical SPDI:: NC_000017.11:77089431:C:T
Gene:: SEC14L1 (Varview), SNHG20 (Varview), SCARNA16 (Varview), MIR6516 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: T=0.000009/2 (GnomAD_exomes)
T=0.000035/1 (TOMMO)
HGVS:: NC_000017.11:g.77089432C>T, NC_000017.10:g.75085514C>T, NG_050640.2:g.5790C>T, NR_003013.1:n.126C>T, NR_106997.1:n.16C>T

Select item 147545556712.

rs1475455567 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:77089268 (GRCh38)
17:75085350 (GRCh37)
Canonical SPDI:: NC_000017.11:77089267:C:G
Gene:: SEC14L1 (Varview), SNHG20 (Varview), SCARNA16 (Varview), MIR6516 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.77089268C>G, NC_000017.10:g.75085350C>G, NG_050640.2:g.5626C>G, NM_001204410.2:c.-243C>G, NM_001204410.1:c.-243C>G, NM_001204408.2:c.-243C>G, NM_001204408.1:c.-243C>G, NR_027058.1:n.423C>G

Select item 147334787013.

rs1473347870 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:77087598 (GRCh38)
17:75083680 (GRCh37)
Canonical SPDI:: NC_000017.11:77087597:T:C
Gene:: SEC14L1 (Varview), SNHG20 (Varview), SCARNA16 (Varview), MIR6516 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_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_000017.11:g.77087598T>C, NC_000017.10:g.75083680T>C, NG_050640.2:g.3956T>C

Select item 147301966414.

rs1473019664 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:77088164 (GRCh38)
17:75084246 (GRCh37)
Canonical SPDI:: NC_000017.11:77088163:G:C
Gene:: SEC14L1 (Varview), SNHG20 (Varview), SCARNA16 (Varview), MIR6516 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.77088164G>C, NC_000017.10:g.75084246G>C, NG_050640.2:g.4522G>C

Select item 147148588715.

rs1471485887 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:77088862 (GRCh38)
17:75084944 (GRCh37)
Canonical SPDI:: NC_000017.11:77088861:T:G
Gene:: SEC14L1 (Varview), SNHG20 (Varview), SCARNA16 (Varview), MIR6516 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_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_000017.11:g.77088862T>G, NC_000017.10:g.75084944T>G, NG_050640.2:g.5220T>G, NM_001204410.2:c.-446T>G, NM_001204408.2:c.-446T>G, NM_001204408.1:c.-446T>G, NR_027058.1:n.220T>G

Select item 147138196216.

rs1471381962 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:77088669 (GRCh38)
17:75084751 (GRCh37)
Canonical SPDI:: NC_000017.11:77088668:C:T
Gene:: SEC14L1 (Varview), SNHG20 (Varview), SCARNA16 (Varview), MIR6516 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000017.11:g.77088669C>T, NC_000017.10:g.75084751C>T, NG_050640.2:g.5027C>T, NM_001204408.1:c.-639C>T, NR_027058.1:n.27C>T

Select item 147013886517.

rs1470138865 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:77088697 (GRCh38)
17:75084779 (GRCh37)
Canonical SPDI:: NC_000017.11:77088696:G:A
Gene:: SEC14L1 (Varview), SNHG20 (Varview), SCARNA16 (Varview), MIR6516 (Varview)
Functional Consequence:: non_coding_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000486/9 (ALFA)
A=0.000019/5 (TOPMED)
A=0.000135/19 (GnomAD)
A=0.002009/9 (Estonian)
HGVS:: NC_000017.11:g.77088697G>A, NC_000017.10:g.75084779G>A, NG_050640.2:g.5055G>A, NM_001204410.2:c.-611G>A, NM_001204408.2:c.-611G>A, NM_001204408.1:c.-611G>A, NR_027058.1:n.55G>A

Select item 146999449918.

rs1469994499 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:77089970 (GRCh38)
17:75086052 (GRCh37)
Canonical SPDI:: NC_000017.11:77089969:G:A
Gene:: SEC14L1 (Varview), SNHG20 (Varview), SCARNA16 (Varview), MIR6516 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/1 (GnomAD)
HGVS:: NC_000017.11:g.77089970G>A, NC_000017.10:g.75086052G>A, NG_050640.2:g.6328G>A

Select item 146670181519.

rs1466701815 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:77089929 (GRCh38)
17:75086011 (GRCh37)
Canonical SPDI:: NC_000017.11:77089928:A:G
Gene:: SEC14L1 (Varview), SNHG20 (Varview), SCARNA16 (Varview), MIR6516 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.00003/8 (TOPMED)
HGVS:: NC_000017.11:g.77089929A>G, NC_000017.10:g.75086011A>G, NG_050640.2:g.6287A>G

Select item 146668034720.

rs1466680347 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:77089370 (GRCh38)
17:75085452 (GRCh37)
Canonical SPDI:: NC_000017.11:77089369:G:A
Gene:: SEC14L1 (Varview), SNHG20 (Varview), SCARNA16 (Varview), MIR6516 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.77089370G>A, NC_000017.10:g.75085452G>A, NG_050640.2:g.5728G>A, NR_003013.1:n.64G>A

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