Links from Nucleotide
Items: 1 to 20 of 25
1.
rs1483857770 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 16:69708574
(GRCh38)
16:69742477
(GRCh37)
- Canonical SPDI:
- NC_000016.10:69708573:T:C
- Gene:
- SNORD13H (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
2.
rs1459495657 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CTTA>-
[Show Flanks]
- Chromosome:
- 16:69708656
(GRCh38)
16:69742559
(GRCh37)
- Canonical SPDI:
- NC_000016.10:69708654:ACTTA:A
- Gene:
- SNORD13H (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000014/2
(GnomAD)
- HGVS:
4.
rs1440422808 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 16:69708573
(GRCh38)
16:69742476
(GRCh37)
- Canonical SPDI:
- NC_000016.10:69708572:G:T
- Gene:
- SNORD13H (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.002/9
(
ALFA)
T=0.002/9
(Estonian)
- HGVS:
5.
rs1424808142 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 16:69708664
(GRCh38)
16:69742567
(GRCh37)
- Canonical SPDI:
- NC_000016.10:69708663:C:T
- Gene:
- SNORD13H (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
7.
rs1400345500 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 16:69708635
(GRCh38)
16:69742538
(GRCh37)
- Canonical SPDI:
- NC_000016.10:69708634:C:T
- Gene:
- SNORD13H (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
8.
rs1381219429 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 16:69708607
(GRCh38)
16:69742510
(GRCh37)
- Canonical SPDI:
- NC_000016.10:69708606:T:A,NC_000016.10:69708606:T:C
- Gene:
- SNORD13H (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
C=0.000495/8
(TOMMO)
C=0.001027/3
(KOREAN)
C=0.001092/2
(Korea1K)
- HGVS:
9.
rs1374614599 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 16:69708579
(GRCh38)
16:69742482
(GRCh37)
- Canonical SPDI:
- NC_000016.10:69708578:C:T
- Gene:
- SNORD13H (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000035/1
(TOMMO)
- HGVS:
11.
rs1332974015 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 16:69708598
(GRCh38)
16:69742502
(GRCh37)
- Canonical SPDI:
- NC_000016.10:69708598:T:TT
- Gene:
- SNORD13H (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TT=0.000071/1
(
ALFA)
T=0.000014/2
(GnomAD)
T=0.000019/5
(TOPMED)
- HGVS:
12.
rs1294168073 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 16:69708633
(GRCh38)
16:69742536
(GRCh37)
- Canonical SPDI:
- NC_000016.10:69708632:C:G
- Gene:
- SNORD13H (Varview)
- Functional Consequence:
- 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)
- HGVS:
13.
rs1289682001 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 16:69708582
(GRCh38)
16:69742485
(GRCh37)
- Canonical SPDI:
- NC_000016.10:69708581:G:A
- Gene:
- SNORD13H (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:
14.
rs1279516431 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 16:69708575
(GRCh38)
16:69742478
(GRCh37)
- Canonical SPDI:
- NC_000016.10:69708574:C:T
- Gene:
- SNORD13H (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
15.
rs1258828345 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 16:69708581
(GRCh38)
16:69742484
(GRCh37)
- Canonical SPDI:
- NC_000016.10:69708580:G:A
- Gene:
- SNORD13H (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.
rs1164479352 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 16:69708660
(GRCh38)
16:69742563
(GRCh37)
- Canonical SPDI:
- NC_000016.10:69708659:G:A
- Gene:
- SNORD13H (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:
18.
rs1039141532 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 16:69708623
(GRCh38)
16:69742526
(GRCh37)
- Canonical SPDI:
- NC_000016.10:69708622:C:A,NC_000016.10:69708622:C:T
- Gene:
- SNORD13H (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
19.
rs988640222 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 16:69708572
(GRCh38)
16:69742475
(GRCh37)
- Canonical SPDI:
- NC_000016.10:69708571:T:C
- Gene:
- SNORD13H (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000015/4
(TOPMED)
- HGVS:
20.
rs971025335 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 16:69708598
(GRCh38)
16:69742501
(GRCh37)
- Canonical SPDI:
- NC_000016.10:69708597:A:G,NC_000016.10:69708597:A:T
- Gene:
- SNORD13H (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
G=0.000045/12
(TOPMED)
- HGVS: