Links from Gene
Items: 1 to 20 of 2173
1.
rs1491521360 has merged into rs142926805 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 2:238229996
(GRCh38)
2:239138637
(GRCh37)
- Canonical SPDI:
- NC_000002.12:238229982:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:238229982:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:238229982:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:238229982:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:238229982:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:238229982:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:238229982:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:238229982:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:238229982:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:238229982:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:238229982:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:238229982:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:238229982:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- LINC02610 (Varview), TARDBPP3 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAA=0./0
(
ALFA)
-=0.025/1
(GENOME_DK)
-=0.0667/257
(ALSPAC)
-=0.0742/275
(TWINSUK)
-=0.1328/665
(1000Genomes)
- HGVS:
NC_000002.12:g.238229996_238230000del, NC_000002.12:g.238229997_238230000del, NC_000002.12:g.238229998_238230000del, NC_000002.12:g.238229999_238230000del, NC_000002.12:g.238230000del, NC_000002.12:g.238230000dup, NC_000002.12:g.238229999_238230000dup, NC_000002.12:g.238229998_238230000dup, NC_000002.12:g.238229997_238230000dup, NC_000002.12:g.238229996_238230000dup, NC_000002.12:g.238229995_238230000dup, NC_000002.12:g.238229994_238230000dup, NC_000002.12:g.238229992_238230000dup, NC_000002.11:g.239138637_239138641del, NC_000002.11:g.239138638_239138641del, NC_000002.11:g.239138639_239138641del, NC_000002.11:g.239138640_239138641del, NC_000002.11:g.239138641del, NC_000002.11:g.239138641dup, NC_000002.11:g.239138640_239138641dup, NC_000002.11:g.239138639_239138641dup, NC_000002.11:g.239138638_239138641dup, NC_000002.11:g.239138637_239138641dup, NC_000002.11:g.239138636_239138641dup, NC_000002.11:g.239138635_239138641dup, NC_000002.11:g.239138633_239138641dup
2.
rs1491495344 has merged into rs71043119 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 2:238228690
(GRCh38)
2:239137331
(GRCh37)
- Canonical SPDI:
- NC_000002.12:238228679:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:238228679:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:238228679:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:238228679:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:238228679:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:238228679:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:238228679:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:238228679:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:238228679:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:238228679:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:238228679:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:238228679:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:238228679:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:238228679:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:238228679:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:238228679:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:238228679:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:238228679:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:238228679:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:238228679:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:238228679:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:238228679:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:238228679:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:238228679:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:238228679:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:238228679:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- LINC02610 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000002.12:g.238228690_238228706del, NC_000002.12:g.238228691_238228706del, NC_000002.12:g.238228692_238228706del, NC_000002.12:g.238228693_238228706del, NC_000002.12:g.238228694_238228706del, NC_000002.12:g.238228695_238228706del, NC_000002.12:g.238228696_238228706del, NC_000002.12:g.238228697_238228706del, NC_000002.12:g.238228698_238228706del, NC_000002.12:g.238228699_238228706del, NC_000002.12:g.238228700_238228706del, NC_000002.12:g.238228701_238228706del, NC_000002.12:g.238228702_238228706del, NC_000002.12:g.238228703_238228706del, NC_000002.12:g.238228704_238228706del, NC_000002.12:g.238228705_238228706del, NC_000002.12:g.238228706del, NC_000002.12:g.238228706dup, NC_000002.12:g.238228705_238228706dup, NC_000002.12:g.238228704_238228706dup, NC_000002.12:g.238228703_238228706dup, NC_000002.12:g.238228700_238228706dup, NC_000002.12:g.238228699_238228706dup, NC_000002.12:g.238228694_238228706dup, NC_000002.12:g.238228693_238228706dup, NC_000002.12:g.238228706_238228707insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.239137331_239137347del, NC_000002.11:g.239137332_239137347del, NC_000002.11:g.239137333_239137347del, NC_000002.11:g.239137334_239137347del, NC_000002.11:g.239137335_239137347del, NC_000002.11:g.239137336_239137347del, NC_000002.11:g.239137337_239137347del, NC_000002.11:g.239137338_239137347del, NC_000002.11:g.239137339_239137347del, NC_000002.11:g.239137340_239137347del, NC_000002.11:g.239137341_239137347del, NC_000002.11:g.239137342_239137347del, NC_000002.11:g.239137343_239137347del, NC_000002.11:g.239137344_239137347del, NC_000002.11:g.239137345_239137347del, NC_000002.11:g.239137346_239137347del, NC_000002.11:g.239137347del, NC_000002.11:g.239137347dup, NC_000002.11:g.239137346_239137347dup, NC_000002.11:g.239137345_239137347dup, NC_000002.11:g.239137344_239137347dup, NC_000002.11:g.239137341_239137347dup, NC_000002.11:g.239137340_239137347dup, NC_000002.11:g.239137335_239137347dup, NC_000002.11:g.239137334_239137347dup, NC_000002.11:g.239137347_239137348insAAAAAAAAAAAAAAAAAAAAAAAAAAAA
3.
rs1491326431 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 2:238224984
(GRCh38)
2:239133626
(GRCh37)
- Canonical SPDI:
- NC_000002.12:238224984:GGGGG:GGGGGG
- Gene:
- LINC02610 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGGGGG=0./0
(
ALFA)
G=0.000021/3
(GnomAD)
G=0.000053/14
(TOPMED)
- HGVS:
5.
rs1490143448 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:238227254
(GRCh38)
2:239135895
(GRCh37)
- Canonical SPDI:
- NC_000002.12:238227253:C:T
- Gene:
- LINC02610 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
9.
rs1489736745 has merged into rs71043119 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 2:238228690
(GRCh38)
2:239137331
(GRCh37)
- Canonical SPDI:
- NC_000002.12:238228679:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:238228679:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:238228679:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:238228679:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:238228679:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:238228679:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:238228679:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:238228679:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:238228679:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:238228679:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:238228679:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:238228679:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:238228679:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:238228679:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:238228679:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:238228679:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:238228679:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:238228679:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:238228679:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:238228679:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:238228679:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:238228679:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:238228679:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:238228679:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:238228679:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:238228679:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- LINC02610 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000002.12:g.238228690_238228706del, NC_000002.12:g.238228691_238228706del, NC_000002.12:g.238228692_238228706del, NC_000002.12:g.238228693_238228706del, NC_000002.12:g.238228694_238228706del, NC_000002.12:g.238228695_238228706del, NC_000002.12:g.238228696_238228706del, NC_000002.12:g.238228697_238228706del, NC_000002.12:g.238228698_238228706del, NC_000002.12:g.238228699_238228706del, NC_000002.12:g.238228700_238228706del, NC_000002.12:g.238228701_238228706del, NC_000002.12:g.238228702_238228706del, NC_000002.12:g.238228703_238228706del, NC_000002.12:g.238228704_238228706del, NC_000002.12:g.238228705_238228706del, NC_000002.12:g.238228706del, NC_000002.12:g.238228706dup, NC_000002.12:g.238228705_238228706dup, NC_000002.12:g.238228704_238228706dup, NC_000002.12:g.238228703_238228706dup, NC_000002.12:g.238228700_238228706dup, NC_000002.12:g.238228699_238228706dup, NC_000002.12:g.238228694_238228706dup, NC_000002.12:g.238228693_238228706dup, NC_000002.12:g.238228706_238228707insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.239137331_239137347del, NC_000002.11:g.239137332_239137347del, NC_000002.11:g.239137333_239137347del, NC_000002.11:g.239137334_239137347del, NC_000002.11:g.239137335_239137347del, NC_000002.11:g.239137336_239137347del, NC_000002.11:g.239137337_239137347del, NC_000002.11:g.239137338_239137347del, NC_000002.11:g.239137339_239137347del, NC_000002.11:g.239137340_239137347del, NC_000002.11:g.239137341_239137347del, NC_000002.11:g.239137342_239137347del, NC_000002.11:g.239137343_239137347del, NC_000002.11:g.239137344_239137347del, NC_000002.11:g.239137345_239137347del, NC_000002.11:g.239137346_239137347del, NC_000002.11:g.239137347del, NC_000002.11:g.239137347dup, NC_000002.11:g.239137346_239137347dup, NC_000002.11:g.239137345_239137347dup, NC_000002.11:g.239137344_239137347dup, NC_000002.11:g.239137341_239137347dup, NC_000002.11:g.239137340_239137347dup, NC_000002.11:g.239137335_239137347dup, NC_000002.11:g.239137334_239137347dup, NC_000002.11:g.239137347_239137348insAAAAAAAAAAAAAAAAAAAAAAAAAAAA
10.
rs1489506055 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:238224885
(GRCh38)
2:239133526
(GRCh37)
- Canonical SPDI:
- NC_000002.12:238224884:G:A
- Gene:
- LINC02610 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_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:
11.
rs1489456388 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 2:238230003
(GRCh38)
2:239138644
(GRCh37)
- Canonical SPDI:
- NC_000002.12:238230002:C:A
- Gene:
- LINC02610 (Varview), TARDBPP3 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.0038/17
(
ALFA)
A=0.00057/9
(TOMMO)
A=0.00164/3
(Korea1K)
- HGVS:
12.
rs1489118003 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:238224914
(GRCh38)
2:239133555
(GRCh37)
- Canonical SPDI:
- NC_000002.12:238224913:G:A
- Gene:
- LINC02610 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000071/1
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
13.
rs1488088567 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,G
[Show Flanks]
- Chromosome:
- 2:238225034
(GRCh38)
2:239133675
(GRCh37)
- Canonical SPDI:
- NC_000002.12:238225033:T:A,NC_000002.12:238225033:T:G
- Gene:
- LINC02610 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
G=0.008904/26
(KOREAN)
- HGVS:
14.
rs1487550937 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 2:238229113
(GRCh38)
2:239137754
(GRCh37)
- Canonical SPDI:
- NC_000002.12:238229112:G:T
- Gene:
- LINC02610 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
15.
rs1487480450 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:238225727
(GRCh38)
2:239134368
(GRCh37)
- Canonical SPDI:
- NC_000002.12:238225726:C:T
- Gene:
- LINC02610 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
16.
rs1487108170 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:238225459
(GRCh38)
2:239134100
(GRCh37)
- Canonical SPDI:
- NC_000002.12:238225458:C:T
- Gene:
- LINC02610 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
17.
rs1486861491 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:238229498
(GRCh38)
2:239138139
(GRCh37)
- Canonical SPDI:
- NC_000002.12:238229497:C:T
- Gene:
- LINC02610 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000094/1
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
18.
rs1486832338 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 2:238227318
(GRCh38)
2:239135959
(GRCh37)
- Canonical SPDI:
- NC_000002.12:238227317:A:C
- Gene:
- LINC02610 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000015/4
(TOPMED)
C=0.000021/3
(GnomAD)
- HGVS:
19.
rs1486367680 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:238227812
(GRCh38)
2:239136453
(GRCh37)
- Canonical SPDI:
- NC_000002.12:238227811:A:G
- Gene:
- LINC02610 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
20.
rs1485876440 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 2:238228634
(GRCh38)
2:239137275
(GRCh37)
- Canonical SPDI:
- NC_000002.12:238228633:G:A,NC_000002.12:238228633:G:C
- Gene:
- LINC02610 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
A=0.000023/3
(GnomAD)
- HGVS: