Links from Nucleotide
Items: 1 to 20 of 701
1.
rs1490917506 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 6:169789769
(GRCh38)
6:170189865
(GRCh37)
- Canonical SPDI:
- NC_000006.12:169789768:G:C
- Gene:
- LINC00574 (Varview), LINC00242 (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=0.000086/12
(GnomAD)
- HGVS:
2.
rs1490431151 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 6:169790795
(GRCh38)
6:170190891
(GRCh37)
- Canonical SPDI:
- NC_000006.12:169790794:C:T
- Gene:
- LINC00574 (Varview), LINC00242 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000014/2
(GnomAD)
C=0.5/1
(SGDP_PRJ)
- HGVS:
3.
rs1490179912 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 6:169789171
(GRCh38)
6:170189267
(GRCh37)
- Canonical SPDI:
- NC_000006.12:169789170:G:A
- Gene:
- LINC00574 (Varview), LINC00242 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000023/6
(TOPMED)
A=0.000283/5
(TOMMO)
- HGVS:
5.
rs1488851541 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- C>-,CC
[Show Flanks]
- Chromosome:
- 6:169791009
(GRCh38)
6:170191105
(GRCh37)
- Canonical SPDI:
- NC_000006.12:169791008:CCCCCCC:CCCCCC,NC_000006.12:169791008:CCCCCCC:CCCCCCCC
- Gene:
- LINC00574 (Varview), LINC00242 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
CCCCCCCC=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
- HGVS:
6.
rs1488706744 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 6:169790506
(GRCh38)
6:170190602
(GRCh37)
- Canonical SPDI:
- NC_000006.12:169790505:C:T
- Gene:
- LINC00574 (Varview), LINC00242 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000021/3
(GnomAD)
- HGVS:
8.
rs1485794205 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 6:169789371
(GRCh38)
6:170189467
(GRCh37)
- Canonical SPDI:
- NC_000006.12:169789370:T:C
- Gene:
- LINC00574 (Varview), LINC00242 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
9.
rs1485576217 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 6:169790671
(GRCh38)
6:170190767
(GRCh37)
- Canonical SPDI:
- NC_000006.12:169790670:C:T
- Gene:
- LINC00574 (Varview), LINC00242 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency
- MAF:
T=0.000008/1
(GnomAD_exomes)
- HGVS:
10.
rs1483696927 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 6:169790364
(GRCh38)
6:170190460
(GRCh37)
- Canonical SPDI:
- NC_000006.12:169790363:C:T
- Gene:
- LINC00574 (Varview), LINC00242 (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=0.000007/1
(GnomAD)
- HGVS:
11.
rs1482417950 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 6:169790281
(GRCh38)
6:170190377
(GRCh37)
- Canonical SPDI:
- NC_000006.12:169790280:G:T
- Gene:
- LINC00574 (Varview), LINC00242 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD_exomes)
- HGVS:
12.
rs1482302264 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CCT
[Show Flanks]
- Chromosome:
- 6:169790040
(GRCh38)
6:170190137
(GRCh37)
- Canonical SPDI:
- NC_000006.12:169790040:CTCCT:CTCCTCCT
- Gene:
- LINC00574 (Varview), LINC00242 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CTCCTCCT=0.000071/1
(
ALFA)
CTC=0.000014/2
(GnomAD)
CTC=0.000014/2
(GnomAD_exomes)
CTC=0.000045/12
(TOPMED)
- HGVS:
13.
rs1482054397 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 6:169789955
(GRCh38)
6:170190051
(GRCh37)
- Canonical SPDI:
- NC_000006.12:169789954:C:T
- Gene:
- LINC00574 (Varview), LINC00242 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
14.
rs1482031631 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 6:169790915
(GRCh38)
6:170191011
(GRCh37)
- Canonical SPDI:
- NC_000006.12:169790914:C:T
- Gene:
- LINC00574 (Varview), LINC00242 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
T=0.000015/4
(TOPMED)
- HGVS:
15.
rs1481643832 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 6:169789631
(GRCh38)
6:170189727
(GRCh37)
- Canonical SPDI:
- NC_000006.12:169789630:A:G
- Gene:
- LINC00574 (Varview), LINC00242 (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)
G=0.000007/1
(GnomAD)
G=0.000035/1
(TOMMO)
G=0.002053/6
(KOREAN)
- HGVS:
16.
rs1481510364 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 6:169789618
(GRCh38)
6:170189714
(GRCh37)
- Canonical SPDI:
- NC_000006.12:169789617:C:A
- Gene:
- LINC00574 (Varview), LINC00242 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000224/1
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000223/1
(Estonian)
- HGVS:
17.
rs1480145703 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AC>-
[Show Flanks]
- Chromosome:
- 6:169788952
(GRCh38)
6:170189048
(GRCh37)
- Canonical SPDI:
- NC_000006.12:169788949:ACAC:AC
- Gene:
- LINC00574 (Varview), LINC00242 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACAC=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
-=0.000014/2
(GnomAD)
- HGVS:
18.
rs1479677166 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 6:169788859
(GRCh38)
6:170188955
(GRCh37)
- Canonical SPDI:
- NC_000006.12:169788855:AGAGA:AGA
- Gene:
- LINC00574 (Varview), LINC00242 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AGA=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
- HGVS:
19.
rs1478315795 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 6:169790354
(GRCh38)
6:170190450
(GRCh37)
- Canonical SPDI:
- NC_000006.12:169790353:G:A
- Gene:
- LINC00574 (Varview), LINC00242 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000111/1
(
ALFA)
A=0.000007/1
(GnomAD_exomes)
- HGVS:
20.
rs1477353234 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 6:169789702
(GRCh38)
6:170189798
(GRCh37)
- Canonical SPDI:
- NC_000006.12:169789701:C:T
- Gene:
- LINC00574 (Varview), LINC00242 (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=0.000019/5
(TOPMED)
T=0.000021/3
(GnomAD)
- HGVS: