Links from Gene
Items: 1 to 20 of 1000
1.
rs1491561670 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 7:150436371
(GRCh38)
7:150133459
(GRCh37)
- Canonical SPDI:
- NC_000007.14:150436370:TA:
- Gene:
- LINC00996 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000034/9
(TOPMED)
-=0.000043/6
(GnomAD)
- HGVS:
2.
rs1490964687 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 7:150441465
(GRCh38)
7:150138553
(GRCh37)
- Canonical SPDI:
- NC_000007.14:150441464:T:C
- Gene:
- LINC00996 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
3.
rs1490804244 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 7:150448564
(GRCh38)
7:150145652
(GRCh37)
- Canonical SPDI:
- NC_000007.14:150448563:C:T
- Gene:
- LINC00996 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000054/1
(
ALFA)
T=0.000015/4
(TOPMED)
T=0.000021/3
(GnomAD)
T=0.000223/1
(Estonian)
C=0.5/1
(SGDP_PRJ)
- HGVS:
4.
rs1490704735 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:150434517
(GRCh38)
7:150131605
(GRCh37)
- Canonical SPDI:
- NC_000007.14:150434516:G:A
- Gene:
- LINC00996 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
5.
rs1490225772 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:150435118
(GRCh38)
7:150132206
(GRCh37)
- Canonical SPDI:
- NC_000007.14:150435117:G:A
- Gene:
- LINC00996 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
6.
rs1490190959 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C,T
[Show Flanks]
- Chromosome:
- 7:150433146
(GRCh38)
7:150130234
(GRCh37)
- Canonical SPDI:
- NC_000007.14:150433145:G:C,NC_000007.14:150433145:G:T
- Gene:
- LINC00996 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
7.
rs1489934141 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 7:150447506
(GRCh38)
7:150144594
(GRCh37)
- Canonical SPDI:
- NC_000007.14:150447505:T:G
- Gene:
- LINC00996 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
G=0.000026/7
(TOPMED)
G=0.000156/1
(1000Genomes)
- HGVS:
8.
rs1489838208 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 7:150442030
(GRCh38)
7:150139118
(GRCh37)
- Canonical SPDI:
- NC_000007.14:150442029:C:A
- Gene:
- LINC00996 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.00016/1
(1000Genomes)
- HGVS:
9.
rs1489582356 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 7:150443304
(GRCh38)
7:150140392
(GRCh37)
- Canonical SPDI:
- NC_000007.14:150443303:C:T
- Gene:
- LINC00996 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
10.
rs1489342325 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 7:150432596
(GRCh38)
7:150129684
(GRCh37)
- Canonical SPDI:
- NC_000007.14:150432595:G:A,NC_000007.14:150432595:G:C
- Gene:
- LINC00996 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0./0
(Korea1K)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
11.
rs1489134756 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 7:150435592
(GRCh38)
7:150132680
(GRCh37)
- Canonical SPDI:
- NC_000007.14:150435591:C:A
- Gene:
- LINC00996 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
13.
rs1488736158 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->AAT
[Show Flanks]
- Chromosome:
- 7:150441149
(GRCh38)
7:150138238
(GRCh37)
- Canonical SPDI:
- NC_000007.14:150441149::AAT
- Gene:
- LINC00996 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
AAT=0.0002/1
(
ALFA)
AAT=0.0002/1
(Estonian)
- HGVS:
14.
rs1488703569 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 7:150436077
(GRCh38)
7:150133165
(GRCh37)
- Canonical SPDI:
- NC_000007.14:150436076:C:T
- Gene:
- LINC00996 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
15.
rs1488335921 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 7:150437278
(GRCh38)
7:150134366
(GRCh37)
- Canonical SPDI:
- NC_000007.14:150437277:A:G
- Gene:
- LINC00996 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
G=0.000022/3
(GnomAD)
- HGVS:
16.
rs1488107233 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:150445301
(GRCh38)
7:150142389
(GRCh37)
- Canonical SPDI:
- NC_000007.14:150445300:G:A
- Gene:
- LINC00996 (Varview)
- Functional Consequence:
- 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:
17.
rs1487884180 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 7:150440925
(GRCh38)
7:150138013
(GRCh37)
- Canonical SPDI:
- NC_000007.14:150440924:C:A,NC_000007.14:150440924:C:T
- Gene:
- LINC00996 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
T=0.00007/1
(TOMMO)
- HGVS:
18.
rs1486483931 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 7:150448439
(GRCh38)
7:150145527
(GRCh37)
- Canonical SPDI:
- NC_000007.14:150448438:C:T
- Gene:
- LINC00996 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
19.
rs1486412802 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 7:150445583
(GRCh38)
7:150142671
(GRCh37)
- Canonical SPDI:
- NC_000007.14:150445582:T:G
- Gene:
- LINC00996 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
20.
rs1486349899 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 7:150436780
(GRCh38)
7:150133868
(GRCh37)
- Canonical SPDI:
- NC_000007.14:150436779:C:A,NC_000007.14:150436779:C:T
- Gene:
- LINC00996 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS: