Links from Gene
Items: 1 to 20 of 2760
1.
rs1491114110 has merged into rs59001268 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GT>-,GTGT
[Show Flanks]
- Chromosome:
- 7:101168019
(GRCh38)
7:100811300
(GRCh37)
- Canonical SPDI:
- NC_000007.14:101168017:TGT:T,NC_000007.14:101168017:TGT:TGTGT
- Gene:
- VGF (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGT=0./0
(
ALFA)
-=0.0195/11
(NorthernSweden)
-=0.11326/11316
(GnomAD)
-=0.38464/5943
(TOMMO)
- HGVS:
2.
rs1490960347 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 7:101170362
(GRCh38)
7:100813643
(GRCh37)
- Canonical SPDI:
- NC_000007.14:101170361:C:A,NC_000007.14:101170361:C:T
- Gene:
- VGF (Varview), NAT16 (Varview)
- Functional Consequence:
- downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
3.
rs1490735125 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 7:101162916
(GRCh38)
7:100806197
(GRCh37)
- Canonical SPDI:
- NC_000007.14:101162915:A:G
- Gene:
- VGF (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.00034/4
(
ALFA)
G=0.00011/2
(TOMMO)
G=0.03322/96
(KOREAN)
- HGVS:
NC_000007.14:g.101162916A>G, NC_000007.13:g.100806197A>G, NG_033082.2:g.13519A>G, XM_005250561.6:c.*80T>C, XM_005250561.5:c.*80T>C, XM_005250561.4:c.*80T>C, XM_005250561.3:c.*80T>C, XM_005250561.2:c.*80T>C, NM_003378.4:c.*80T>C, NM_003378.3:c.*80T>C, XM_011516549.4:c.*80T>C, XM_011516549.3:c.*80T>C, XM_011516549.2:c.*80T>C, XM_011516549.1:c.*80T>C
4.
rs1490569888 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 7:101162406
(GRCh38)
7:100805687
(GRCh37)
- Canonical SPDI:
- NC_000007.14:101162405:C:T
- Gene:
- VGF (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000015/4
(TOPMED)
- HGVS:
5.
rs1490514314 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:101163283
(GRCh38)
7:100806564
(GRCh37)
- Canonical SPDI:
- NC_000007.14:101163282:G:A
- Gene:
- VGF (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
NC_000007.14:g.101163283G>A, NC_000007.13:g.100806564G>A, XM_005250561.6:c.1561C>T, XM_005250561.5:c.1561C>T, XM_005250561.4:c.1561C>T, XM_005250561.3:c.1561C>T, XM_005250561.2:c.1561C>T, XM_005250561.1:c.1561C>T, NM_003378.4:c.1561C>T, NM_003378.3:c.1561C>T, XM_011516549.4:c.1561C>T, XM_011516549.3:c.1561C>T, XM_011516549.2:c.1561C>T, XM_011516549.1:c.1561C>T, XP_005250618.1:p.Pro521Ser, NP_003369.2:p.Pro521Ser, XP_011514851.1:p.Pro521Ser
6.
rs1490495982 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 7:101162139
(GRCh38)
7:100805420
(GRCh37)
- Canonical SPDI:
- NC_000007.14:101162138:A:T
- Gene:
- VGF (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
7.
rs1489848015 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 7:101169798
(GRCh38)
7:100813079
(GRCh37)
- Canonical SPDI:
- NC_000007.14:101169797:G:C
- Gene:
- VGF (Varview)
- Functional Consequence:
- intron_variant,genic_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:
8.
rs1489716348 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:101168274
(GRCh38)
7:100811555
(GRCh37)
- Canonical SPDI:
- NC_000007.14:101168273:G:A
- Gene:
- VGF (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
9.
rs1489605148 has merged into rs376663461 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CTCT>-,CT,CTCTCT
[Show Flanks]
- Chromosome:
- 7:101171379
(GRCh38)
7:100814660
(GRCh37)
- Canonical SPDI:
- NC_000007.14:101171368:CTCTCTCTCTCTCT:CTCTCTCTCT,NC_000007.14:101171368:CTCTCTCTCTCTCT:CTCTCTCTCTCT,NC_000007.14:101171368:CTCTCTCTCTCTCT:CTCTCTCTCTCTCTCT
- Gene:
- VGF (Varview), NAT16 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CTCTCTCTCTCT=0./0
(
ALFA)
CT=0.00016/1
(1000Genomes)
- HGVS:
NC_000007.14:g.101171369CT[5], NC_000007.14:g.101171369CT[6], NC_000007.14:g.101171369CT[8], NC_000007.13:g.100814650CT[5], NC_000007.13:g.100814650CT[6], NC_000007.13:g.100814650CT[8], NM_198571.3:c.*697AG[5], NM_198571.3:c.*697AG[6], NM_198571.3:c.*697AG[8], NM_198571.2:c.*697AG[5], NM_198571.2:c.*697AG[6], NM_198571.2:c.*697AG[8], NM_001369694.1:c.*697AG[5], NM_001369694.1:c.*697AG[6], NM_001369694.1:c.*697AG[8], NM_001369695.1:c.*697AG[5], NM_001369695.1:c.*697AG[6], NM_001369695.1:c.*697AG[8]
10.
rs1488963741 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 7:101163709
(GRCh38)
7:100806990
(GRCh37)
- Canonical SPDI:
- NC_000007.14:101163708:C:G,NC_000007.14:101163708:C:T
- Gene:
- VGF (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000166/1
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000007/1
(GnomAD_exomes)
- HGVS:
NC_000007.14:g.101163709C>G, NC_000007.14:g.101163709C>T, NC_000007.13:g.100806990C>G, NC_000007.13:g.100806990C>T, XM_005250561.6:c.1135G>C, XM_005250561.6:c.1135G>A, XM_005250561.5:c.1135G>C, XM_005250561.5:c.1135G>A, XM_005250561.4:c.1135G>C, XM_005250561.4:c.1135G>A, XM_005250561.3:c.1135G>C, XM_005250561.3:c.1135G>A, XM_005250561.2:c.1135G>C, XM_005250561.2:c.1135G>A, XM_005250561.1:c.1135G>C, XM_005250561.1:c.1135G>A, NM_003378.4:c.1135G>C, NM_003378.4:c.1135G>A, NM_003378.3:c.1135G>C, NM_003378.3:c.1135G>A, XM_011516549.4:c.1135G>C, XM_011516549.4:c.1135G>A, XM_011516549.3:c.1135G>C, XM_011516549.3:c.1135G>A, XM_011516549.2:c.1135G>C, XM_011516549.2:c.1135G>A, XM_011516549.1:c.1135G>C, XM_011516549.1:c.1135G>A, XP_005250618.1:p.Gly379Arg, XP_005250618.1:p.Gly379Arg, NP_003369.2:p.Gly379Arg, NP_003369.2:p.Gly379Arg, XP_011514851.1:p.Gly379Arg, XP_011514851.1:p.Gly379Arg
12.
rs1488552721 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 7:101167110
(GRCh38)
7:100810391
(GRCh37)
- Canonical SPDI:
- NC_000007.14:101167109:C:T
- Gene:
- VGF (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_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:
13.
rs1488155021 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 7:101165836
(GRCh38)
7:100809117
(GRCh37)
- Canonical SPDI:
- NC_000007.14:101165835:G:A,NC_000007.14:101165835:G:C
- Gene:
- VGF (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
14.
rs1488082720 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 7:101164875
(GRCh38)
7:100808156
(GRCh37)
- Canonical SPDI:
- NC_000007.14:101164874:A:G
- Gene:
- VGF (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
G=0.000006/1
(GnomAD_exomes)
- HGVS:
15.
rs1487872454 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 7:101169821
(GRCh38)
7:100813102
(GRCh37)
- Canonical SPDI:
- NC_000007.14:101169820:A:G
- Gene:
- VGF (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
G=0.000015/4
(TOPMED)
- HGVS:
16.
rs1487721484 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 7:101162993
(GRCh38)
7:100806274
(GRCh37)
- Canonical SPDI:
- NC_000007.14:101162992:C:T
- Gene:
- VGF (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- HGVS:
NC_000007.14:g.101162993C>T, NC_000007.13:g.100806274C>T, NG_033082.2:g.13596C>T, XM_005250561.6:c.*3G>A, XM_005250561.5:c.*3G>A, XM_005250561.4:c.*3G>A, XM_005250561.3:c.*3G>A, XM_005250561.2:c.*3G>A, XM_005250561.1:c.*3G>A, NM_003378.4:c.*3G>A, NM_003378.3:c.*3G>A, XM_011516549.4:c.*3G>A, XM_011516549.3:c.*3G>A, XM_011516549.2:c.*3G>A, XM_011516549.1:c.*3G>A
17.
rs1487027074 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:101164576
(GRCh38)
7:100807857
(GRCh37)
- Canonical SPDI:
- NC_000007.14:101164575:G:A
- Gene:
- VGF (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- HGVS:
NC_000007.14:g.101164576G>A, NC_000007.13:g.100807857G>A, XM_005250561.6:c.268C>T, XM_005250561.5:c.268C>T, XM_005250561.4:c.268C>T, XM_005250561.3:c.268C>T, XM_005250561.2:c.268C>T, XM_005250561.1:c.268C>T, NM_003378.4:c.268C>T, NM_003378.3:c.268C>T, XM_011516549.4:c.268C>T, XM_011516549.3:c.268C>T, XM_011516549.2:c.268C>T, XM_011516549.1:c.268C>T, XP_005250618.1:p.Leu90Phe, NP_003369.2:p.Leu90Phe, XP_011514851.1:p.Leu90Phe
18.
rs1486879834 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:101171240
(GRCh38)
7:100814521
(GRCh37)
- Canonical SPDI:
- NC_000007.14:101171239:G:A
- Gene:
- VGF (Varview), NAT16 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
A=0.000342/1
(KOREAN)
A=0.000779/13
(TOMMO)
- HGVS:
19.
rs1486824126 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 7:101169881
(GRCh38)
7:100813162
(GRCh37)
- Canonical SPDI:
- NC_000007.14:101169880:A:G
- Gene:
- VGF (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_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:
20.
rs1486815331 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 7:101165758
(GRCh38)
7:100809039
(GRCh37)
- Canonical SPDI:
- NC_000007.14:101165757:A:T
- Gene:
- VGF (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
- HGVS: