Links from Nucleotide
Items: 1 to 20 of 610
1.
rs1490966444 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 8:127209594
(GRCh38)
8:128221839
(GRCh37)
- Canonical SPDI:
- NC_000008.11:127209593:C:G
- Gene:
- CCAT1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
2.
rs1489818313 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 8:127208129
(GRCh38)
8:128220374
(GRCh37)
- Canonical SPDI:
- NC_000008.11:127208128:A:C
- Gene:
- CCAT1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
3.
rs1489528446 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GGATT
[Show Flanks]
- Chromosome:
- 8:127219026
(GRCh38)
8:128231272
(GRCh37)
- Canonical SPDI:
- NC_000008.11:127219026:TGGATT:TGGATTGGATT
- Gene:
- CCAT1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGGATTGGATT=0./0
(
ALFA)
TGGAT=0.000008/2
(TOPMED)
TGGAT=0.000021/3
(GnomAD)
- HGVS:
4.
rs1486054220 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 8:127208894
(GRCh38)
8:128221139
(GRCh37)
- Canonical SPDI:
- NC_000008.11:127208893:T:C
- Gene:
- CCAT1 (Varview)
- Functional Consequence:
- 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)
- HGVS:
5.
rs1483934642 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- C>-,CC
[Show Flanks]
- Chromosome:
- 8:127207923
(GRCh38)
8:128220168
(GRCh37)
- Canonical SPDI:
- NC_000008.11:127207922:CCCCC:CCCC,NC_000008.11:127207922:CCCCC:CCCCCC
- Gene:
- CCAT1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCCCCC=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000035/1
(TOMMO)
-=0.000036/5
(GnomAD)
- HGVS:
6.
rs1483638219 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 8:127208646
(GRCh38)
8:128220891
(GRCh37)
- Canonical SPDI:
- NC_000008.11:127208645:A:G
- Gene:
- CCAT1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
7.
rs1483586860 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 8:127207700
(GRCh38)
8:128219945
(GRCh37)
- Canonical SPDI:
- NC_000008.11:127207699:C:G
- Gene:
- CCAT1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
8.
rs1482476888 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 8:127219014
(GRCh38)
8:128231259
(GRCh37)
- Canonical SPDI:
- NC_000008.11:127219013:T:G
- Gene:
- CCAT1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
10.
rs1482229821 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 8:127218885
(GRCh38)
8:128231130
(GRCh37)
- Canonical SPDI:
- NC_000008.11:127218884:G:A
- Gene:
- CCAT1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000066/1
(
ALFA)
A=0.000014/2
(GnomAD)
A=0.000446/2
(Estonian)
- HGVS:
12.
rs1481659652 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 8:127209701
(GRCh38)
8:128221946
(GRCh37)
- Canonical SPDI:
- NC_000008.11:127209700:C:A,NC_000008.11:127209700:C:T
- Gene:
- CCAT1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
- HGVS:
13.
rs1480404147 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 8:127218909
(GRCh38)
8:128231154
(GRCh37)
- Canonical SPDI:
- NC_000008.11:127218908:T:C
- Gene:
- CCAT1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
14.
rs1479372675 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 8:127209247
(GRCh38)
8:128221492
(GRCh37)
- Canonical SPDI:
- NC_000008.11:127209246:A:T
- Gene:
- CCAT1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000021/3
(GnomAD)
- HGVS:
15.
rs1479356129 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 8:127208776
(GRCh38)
8:128221021
(GRCh37)
- Canonical SPDI:
- NC_000008.11:127208775:T:A
- Gene:
- CCAT1 (Varview)
- Functional Consequence:
- non_coding_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:
16.
rs1479322095 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 8:127208214
(GRCh38)
8:128220459
(GRCh37)
- Canonical SPDI:
- NC_000008.11:127208213:G:A
- Gene:
- CCAT1 (Varview)
- Functional Consequence:
- non_coding_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:
17.
rs1479009568 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 8:127219086
(GRCh38)
8:128231331
(GRCh37)
- Canonical SPDI:
- NC_000008.11:127219085:T:A
- Gene:
- CCAT1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
- HGVS:
18.
rs1478958743 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 8:127208758
(GRCh38)
8:128221003
(GRCh37)
- Canonical SPDI:
- NC_000008.11:127208757:G:A
- Gene:
- CCAT1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
19.
rs1474522567 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G,T
[Show Flanks]
- Chromosome:
- 8:127208503
(GRCh38)
8:128220748
(GRCh37)
- Canonical SPDI:
- NC_000008.11:127208502:C:A,NC_000008.11:127208502:C:G,NC_000008.11:127208502:C:T
- Gene:
- CCAT1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.00004/1
(TOMMO)
- HGVS:
20.
rs1473060292 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 8:127208393
(GRCh38)
8:128220638
(GRCh37)
- Canonical SPDI:
- NC_000008.11:127208392:G:A
- Gene:
- CCAT1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
- HGVS: