Links from Nucleotide
Items: 1 to 20 of 559
1.
rs1490840862 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 4:183038396
(GRCh38)
4:183959549
(GRCh37)
- Canonical SPDI:
- NC_000004.12:183038395:A:T
- Gene:
- CIBAR1P2 (Varview), LOC107986328 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000044/6
(GnomAD)
- HGVS:
2.
rs1490484382 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 4:183039620
(GRCh38)
4:183960773
(GRCh37)
- Canonical SPDI:
- NC_000004.12:183039619:C:T
- Gene:
- CIBAR1P2 (Varview)
- Functional Consequence:
- 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:
3.
rs1490331696 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 4:183038907
(GRCh38)
4:183960060
(GRCh37)
- Canonical SPDI:
- NC_000004.12:183038906:C:G
- Gene:
- CIBAR1P2 (Varview), LOC107986328 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
5.
rs1486336127 has merged into rs1035072729 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- A>-,AA
[Show Flanks]
- Chromosome:
- 4:183038226
(GRCh38)
4:183959379
(GRCh37)
- Canonical SPDI:
- NC_000004.12:183038225:AAAAAAAA:AAAAAAA,NC_000004.12:183038225:AAAAAAAA:AAAAAAAAA
- Gene:
- CIBAR1P2 (Varview), LOC107986328 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAA=0./0
(
ALFA)
-=0.000014/2
(GnomAD)
- HGVS:
6.
rs1483096515 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 4:183038726
(GRCh38)
4:183959879
(GRCh37)
- Canonical SPDI:
- NC_000004.12:183038725:T:G
- Gene:
- CIBAR1P2 (Varview), LOC107986328 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000071/1
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
7.
rs1482378447 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 4:183038403
(GRCh38)
4:183959556
(GRCh37)
- Canonical SPDI:
- NC_000004.12:183038402:G:A
- Gene:
- CIBAR1P2 (Varview), LOC107986328 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
8.
rs1481491383 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 4:183038245
(GRCh38)
4:183959398
(GRCh37)
- Canonical SPDI:
- NC_000004.12:183038244:C:A,NC_000004.12:183038244:C:T
- Gene:
- CIBAR1P2 (Varview), LOC107986328 (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=0.000011/3
(TOPMED)
T=0.000029/4
(GnomAD)
- HGVS:
9.
rs1481355948 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 4:183037756
(GRCh38)
4:183958909
(GRCh37)
- Canonical SPDI:
- NC_000004.12:183037755:C:A,NC_000004.12:183037755:C:T
- Gene:
- CIBAR1P2 (Varview), LOC107986328 (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=0.000008/2
(TOPMED)
- HGVS:
10.
rs1481112212 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 4:183038889
(GRCh38)
4:183960042
(GRCh37)
- Canonical SPDI:
- NC_000004.12:183038888:A:G
- Gene:
- CIBAR1P2 (Varview), LOC107986328 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
11.
rs1480786609 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 4:183038386
(GRCh38)
4:183959539
(GRCh37)
- Canonical SPDI:
- NC_000004.12:183038385:A:G
- Gene:
- CIBAR1P2 (Varview), LOC107986328 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
12.
rs1474105318 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 4:183039096
(GRCh38)
4:183960249
(GRCh37)
- Canonical SPDI:
- NC_000004.12:183039095:T:C,NC_000004.12:183039095:T:G
- Gene:
- CIBAR1P2 (Varview), LOC107986328 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
13.
rs1473496831 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 4:183038479
(GRCh38)
4:183959632
(GRCh37)
- Canonical SPDI:
- NC_000004.12:183038478:A:G
- Gene:
- CIBAR1P2 (Varview), LOC107986328 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
14.
rs1471135149 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 4:183039683
(GRCh38)
4:183960836
(GRCh37)
- Canonical SPDI:
- NC_000004.12:183039682:A:C,NC_000004.12:183039682:A:G
- Gene:
- CIBAR1P2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
16.
rs1470437802 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 4:183038466
(GRCh38)
4:183959619
(GRCh37)
- Canonical SPDI:
- NC_000004.12:183038465:T:C
- Gene:
- CIBAR1P2 (Varview), LOC107986328 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
T=0.5/1
(SGDP_PRJ)
- HGVS:
17.
rs1468475311 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 4:183037838
(GRCh38)
4:183958991
(GRCh37)
- Canonical SPDI:
- NC_000004.12:183037837:G:C
- Gene:
- CIBAR1P2 (Varview), LOC107986328 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
18.
rs1467389494 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 4:183038208
(GRCh38)
4:183959361
(GRCh37)
- Canonical SPDI:
- NC_000004.12:183038207:C:T
- Gene:
- CIBAR1P2 (Varview), LOC107986328 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000021/3
(GnomAD)
- HGVS:
19.
rs1465017979 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 4:183037938
(GRCh38)
4:183959091
(GRCh37)
- Canonical SPDI:
- NC_000004.12:183037937:A:C
- Gene:
- CIBAR1P2 (Varview), LOC107986328 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
20.
rs1464321786 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 4:183038027
(GRCh38)
4:183959180
(GRCh37)
- Canonical SPDI:
- NC_000004.12:183038026:G:A
- Gene:
- CIBAR1P2 (Varview), LOC107986328 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS: