Links from Gene
Items: 1 to 20 of 2741
1.
rs1491574389 has merged into rs1254679042 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GG>-,G
[Show Flanks]
- Chromosome:
- 12:1929991
(GRCh38)
12:2039157
(GRCh37)
- Canonical SPDI:
- NC_000012.12:1929987:GGGGG:GGG,NC_000012.12:1929987:GGGGG:GGGG
- Gene:
- LINC00940 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGGG=0./0
(
ALFA)
-=0.00008/4
(GnomAD)
- HGVS:
2.
rs1491536836 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 12:1929988
(GRCh38)
12:2039155
(GRCh37)
- Canonical SPDI:
- NC_000012.12:1929988::T
- Gene:
- LINC00940 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
T=0.00795/118
(TOMMO)
T=0.01/6
(NorthernSweden)
T=0.01953/35
(Korea1K)
- HGVS:
4.
rs1491465786 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 12:1933088
(GRCh38)
12:2042254
(GRCh37)
- Canonical SPDI:
- NC_000012.12:1933086:TAT:T
- Gene:
- LINC00940 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.001139/16
(
ALFA)
-=0.000829/14
(TOMMO)
-=0.00091/123
(GnomAD)
-=0.001235/327
(TOPMED)
-=0.001562/10
(1000Genomes)
-=0.001618/6
(TWINSUK)
-=0.002183/4
(Korea1K)
-=0.002335/9
(ALSPAC)
- HGVS:
5.
rs1491184312 has merged into rs368687017 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-
[Show Flanks]
- Chromosome:
- 12:1933013
(GRCh38)
12:2042179
(GRCh37)
- Canonical SPDI:
- NC_000012.12:1933011:TTT:T
- Gene:
- LINC00940 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.005142/61
(
ALFA)
-=0.006958/969
(GnomAD)
-=0.007808/39
(1000Genomes)
- HGVS:
7.
rs1489846323 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:1933220
(GRCh38)
12:2042386
(GRCh37)
- Canonical SPDI:
- NC_000012.12:1933219:G:A
- Gene:
- LINC00940 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
9.
rs1489687834 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:1937528
(GRCh38)
12:2046694
(GRCh37)
- Canonical SPDI:
- NC_000012.12:1937527:T:C
- Gene:
- LINC00940 (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:
10.
rs1489495637 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:1928844
(GRCh38)
12:2038010
(GRCh37)
- Canonical SPDI:
- NC_000012.12:1928843:G:A
- Gene:
- LINC00940 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
11.
rs1489423796 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GGAGGG>-
[Show Flanks]
- Chromosome:
- 12:1930030
(GRCh38)
12:2039196
(GRCh37)
- Canonical SPDI:
- NC_000012.12:1930024:GAGGGGGAGGG:GAGGG
- Gene:
- LINC00940 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GAGGG=0./0
(
ALFA)
-=0.00003/2
(GnomAD)
- HGVS:
12.
rs1489264191 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:1934156
(GRCh38)
12:2043322
(GRCh37)
- Canonical SPDI:
- NC_000012.12:1934155:T:C
- Gene:
- LINC00940 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.000071/1
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
15.
rs1488816192 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 12:1937642
(GRCh38)
12:2046809
(GRCh37)
- Canonical SPDI:
- NC_000012.12:1937642:AA:AAA
- Gene:
- LINC00940 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
AAA=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
17.
rs1488538806 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 12:1936919
(GRCh38)
12:2046085
(GRCh37)
- Canonical SPDI:
- NC_000012.12:1936918:T:G
- Gene:
- LINC00940 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
20.
rs1487265786 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:1937114
(GRCh38)
12:2046280
(GRCh37)
- Canonical SPDI:
- NC_000012.12:1937113:C:T
- Gene:
- LINC00940 (Varview)
- Functional Consequence:
- 2KB_upstream_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: