Links from Gene
Items: 1 to 20 of 861
1.
rs1489489554 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 21:41716991
(GRCh38)
21:43137151
(GRCh37)
- Canonical SPDI:
- NC_000021.9:41716990:C:T
- Gene:
- LINC00112 (Varview), LINC00479 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
- HGVS:
2.
rs1488683847 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 21:41716631
(GRCh38)
21:43136791
(GRCh37)
- Canonical SPDI:
- NC_000021.9:41716630:G:A
- Gene:
- LINC00112 (Varview), LINC00479 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
3.
rs1487867527 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 21:41716529
(GRCh38)
21:43136689
(GRCh37)
- Canonical SPDI:
- NC_000021.9:41716528:G:A
- Gene:
- LINC00112 (Varview), LINC00479 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000071/1
(
ALFA)
A=0.000011/3
(TOPMED)
- HGVS:
4.
rs1487436368 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 21:41715216
(GRCh38)
21:43135376
(GRCh37)
- Canonical SPDI:
- NC_000021.9:41715215:G:A
- Gene:
- LINC00112 (Varview), LINC00479 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
5.
rs1486615233 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 21:41716008
(GRCh38)
21:43136168
(GRCh37)
- Canonical SPDI:
- NC_000021.9:41716007:C:T
- Gene:
- LINC00112 (Varview), LINC00479 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000356/5
(
ALFA)
T=0.000079/11
(GnomAD)
T=0.000094/25
(TOPMED)
- HGVS:
6.
rs1486216667 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 21:41717862
(GRCh38)
21:43138022
(GRCh37)
- Canonical SPDI:
- NC_000021.9:41717861:A:C
- Gene:
- LINC00112 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.00003/8
(TOPMED)
C=0.000043/6
(GnomAD)
- HGVS:
7.
rs1485419403 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 21:41717521
(GRCh38)
21:43137681
(GRCh37)
- Canonical SPDI:
- NC_000021.9:41717520:T:C
- Gene:
- LINC00112 (Varview), LINC00479 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
9.
rs1484625257 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 21:41717488
(GRCh38)
21:43137648
(GRCh37)
- Canonical SPDI:
- NC_000021.9:41717487:C:T
- Gene:
- LINC00112 (Varview), LINC00479 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
10.
rs1483663224 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 21:41716913
(GRCh38)
21:43137073
(GRCh37)
- Canonical SPDI:
- NC_000021.9:41716912:G:A
- Gene:
- LINC00112 (Varview), LINC00479 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_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.
rs1482010020 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 21:41715554
(GRCh38)
21:43135714
(GRCh37)
- Canonical SPDI:
- NC_000021.9:41715553:G:A,NC_000021.9:41715553:G:C
- Gene:
- LINC00112 (Varview), LINC00479 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
C=0.000342/1
(KOREAN)
- HGVS:
12.
rs1481980381 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 21:41716513
(GRCh38)
21:43136673
(GRCh37)
- Canonical SPDI:
- NC_000021.9:41716512:C:T
- Gene:
- LINC00112 (Varview), LINC00479 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
13.
rs1480539292 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 21:41715709
(GRCh38)
21:43135869
(GRCh37)
- Canonical SPDI:
- NC_000021.9:41715708:T:C
- Gene:
- LINC00112 (Varview), LINC00479 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
14.
rs1480190459 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 21:41714646
(GRCh38)
21:43134806
(GRCh37)
- Canonical SPDI:
- NC_000021.9:41714645:G:C
- Gene:
- LINC00112 (Varview), LINC00479 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
16.
rs1478953672 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 21:41714552
(GRCh38)
21:43134712
(GRCh37)
- Canonical SPDI:
- NC_000021.9:41714551:C:
- Gene:
- LINC00112 (Varview), LINC00479 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
- HGVS:
17.
rs1478885438 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 21:41717063
(GRCh38)
21:43137223
(GRCh37)
- Canonical SPDI:
- NC_000021.9:41717062:C:T
- Gene:
- LINC00112 (Varview), LINC00479 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000015/4
(TOPMED)
- HGVS:
18.
rs1477927917 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 21:41716281
(GRCh38)
21:43136441
(GRCh37)
- Canonical SPDI:
- NC_000021.9:41716280:C:A
- Gene:
- LINC00112 (Varview), LINC00479 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000071/1
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
19.
rs1476920883 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 21:41715302
(GRCh38)
21:43135462
(GRCh37)
- Canonical SPDI:
- NC_000021.9:41715301:G:A
- Gene:
- LINC00112 (Varview), LINC00479 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
20.
rs1476145688 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 21:41714681
(GRCh38)
21:43134841
(GRCh37)
- Canonical SPDI:
- NC_000021.9:41714680:C:T
- Gene:
- LINC00112 (Varview), LINC00479 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS: