Links from Gene
Items: 1 to 20 of 1000
1.
rs1491503786 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TC>-
[Show Flanks]
- Chromosome:
- 11:6713151
(GRCh38)
11:6734382
(GRCh37)
- Canonical SPDI:
- NC_000011.10:6713150:TC:
- Gene:
- GVINP1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.005311/63
(
ALFA)
-=0.000495/8
(TOMMO)
-=0.008539/1066
(GnomAD)
-=0.047046/86
(Korea1K)
- HGVS:
2.
rs1491244208 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 11:6713150
(GRCh38)
11:6734382
(GRCh37)
- Canonical SPDI:
- NC_000011.10:6713150::C
- Gene:
- GVINP1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000016/2
(GnomAD)
- HGVS:
3.
rs1490964513 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:6720979
(GRCh38)
11:6742210
(GRCh37)
- Canonical SPDI:
- NC_000011.10:6720978:A:G
- Gene:
- GVINP1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
4.
rs1490946077 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 11:6716380
(GRCh38)
11:6737611
(GRCh37)
- Canonical SPDI:
- NC_000011.10:6716379:A:C
- Gene:
- GVINP1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
5.
rs1490851261 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:6722026
(GRCh38)
11:6743257
(GRCh37)
- Canonical SPDI:
- NC_000011.10:6722025:A:G
- Gene:
- GVINP1 (Varview)
- Functional Consequence:
- 2KB_upstream_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:
6.
rs1490573322 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 11:6713300
(GRCh38)
11:6734531
(GRCh37)
- Canonical SPDI:
- NC_000011.10:6713299:A:T
- Gene:
- GVINP1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
T=0.000015/4
(TOPMED)
- HGVS:
7.
rs1490147635 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:6721486
(GRCh38)
11:6742717
(GRCh37)
- Canonical SPDI:
- NC_000011.10:6721485:C:T
- Gene:
- GVINP1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
8.
rs1490034286 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- ACTC>-
[Show Flanks]
- Chromosome:
- 11:6722403
(GRCh38)
11:6743634
(GRCh37)
- Canonical SPDI:
- NC_000011.10:6722402:ACTC:
- Gene:
- GVINP1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
10.
rs1489838008 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 11:6715199
(GRCh38)
11:6736430
(GRCh37)
- Canonical SPDI:
- NC_000011.10:6715198:C:G
- Gene:
- GVINP1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency
- MAF:
G=0.000007/1
(GnomAD_exomes)
- HGVS:
11.
rs1489719238 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 11:6713689
(GRCh38)
11:6734920
(GRCh37)
- Canonical SPDI:
- NC_000011.10:6713688:G:C
- Gene:
- GVINP1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.000071/1
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
12.
rs1489238763 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 11:6723451
(GRCh38)
11:6744682
(GRCh37)
- Canonical SPDI:
- NC_000011.10:6723450:C:A,NC_000011.10:6723450:C:T
- Gene:
- GVINP1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000043/6
(GnomAD)
- HGVS:
13.
rs1489090909 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 11:6713639
(GRCh38)
11:6734870
(GRCh37)
- Canonical SPDI:
- NC_000011.10:6713638:A:G,NC_000011.10:6713638:A:T
- Gene:
- GVINP1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000008/1
(GnomAD)
T=0.006502/19
(KOREAN)
- HGVS:
15.
rs1489041492 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:6715752
(GRCh38)
11:6736983
(GRCh37)
- Canonical SPDI:
- NC_000011.10:6715751:A:G
- Gene:
- GVINP1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000111/1
(
ALFA)
G=0.000007/1
(GnomAD_exomes)
- HGVS:
17.
rs1488835213 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:6718429
(GRCh38)
11:6739660
(GRCh37)
- Canonical SPDI:
- NC_000011.10:6718428:C:T
- Gene:
- GVINP1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.00003/8
(TOPMED)
T=0.000079/11
(GnomAD_exomes)
- HGVS:
19.
rs1487986807 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 11:6723482
(GRCh38)
11:6744713
(GRCh37)
- Canonical SPDI:
- NC_000011.10:6723481:T:C
- Gene:
- GVINP1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000011/3
(TOPMED)
- HGVS:
20.
rs1487911872 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:6716089
(GRCh38)
11:6737320
(GRCh37)
- Canonical SPDI:
- NC_000011.10:6716088:C:T
- Gene:
- GVINP1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000007/1
(GnomAD_exomes)
T=0.000008/2
(TOPMED)
- HGVS: