Links from Nucleotide
Items: 1 to 20 of 382
1.
rs1489496477 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 1:28581672
(GRCh38)
1:28908184
(GRCh37)
- Canonical SPDI:
- NC_000001.11:28581671:G:T
- Gene:
- SNHG12 (Varview), SNORA44 (Varview), SNORA61 (Varview), SNORA16A (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.0002/1
(
ALFA)
T=0.0002/1
(Estonian)
- HGVS:
2.
rs1488713446 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C,G
[Show Flanks]
- Chromosome:
- 1:28580633
(GRCh38)
1:28907145
(GRCh37)
- Canonical SPDI:
- NC_000001.11:28580632:T:A,NC_000001.11:28580632:T:C,NC_000001.11:28580632:T:G
- Gene:
- SNHG12 (Varview), SNORA44 (Varview), SNORA61 (Varview), SNORA16A (Varview), SNORD99 (Varview)
- Functional Consequence:
- 500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
NC_000001.11:g.28580633T>A, NC_000001.11:g.28580633T>C, NC_000001.11:g.28580633T>G, NC_000001.10:g.28907145T>A, NC_000001.10:g.28907145T>C, NC_000001.10:g.28907145T>G, NR_024127.2:n.417A>T, NR_024127.2:n.417A>G, NR_024127.2:n.417A>C, NR_024127.1:n.398A>T, NR_024127.1:n.398A>G, NR_024127.1:n.398A>C, NR_146382.1:n.1027A>T, NR_146382.1:n.1027A>G, NR_146382.1:n.1027A>C, NR_146381.1:n.434A>T, NR_146381.1:n.434A>G, NR_146381.1:n.434A>C, NR_146384.1:n.417A>T, NR_146384.1:n.417A>G, NR_146384.1:n.417A>C, NR_146387.1:n.298A>T, NR_146387.1:n.298A>G, NR_146387.1:n.298A>C, NR_146385.1:n.298A>T, NR_146385.1:n.298A>G, NR_146385.1:n.298A>C, NR_146386.1:n.434A>T, NR_146386.1:n.434A>G, NR_146386.1:n.434A>C, NR_146383.1:n.417A>T, NR_146383.1:n.417A>G, NR_146383.1:n.417A>C, NM_053040.1:c.-60A>T, NM_053040.1:c.-60A>G, NM_053040.1:c.-60A>C
3.
rs1488400393 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:28581640
(GRCh38)
1:28908152
(GRCh37)
- Canonical SPDI:
- NC_000001.11:28581639:G:A
- Gene:
- SNHG12 (Varview), SNORA44 (Varview), SNORA61 (Varview), SNORA16A (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
NC_000001.11:g.28581640G>A, NC_000001.10:g.28908152G>A, NR_024127.2:n.234C>T, NR_024127.1:n.215C>T, NR_146381.1:n.234C>T, NR_146384.1:n.234C>T, NR_146387.1:n.234C>T, NR_146385.1:n.234C>T, NR_146386.1:n.234C>T, NR_146383.1:n.234C>T, NM_053040.1:c.-242C>T
4.
rs1485433358 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:28578661
(GRCh38)
1:28905173
(GRCh37)
- Canonical SPDI:
- NC_000001.11:28578660:T:C
- Gene:
- TRNAU1AP (Varview), SNHG12 (Varview), SNORD99 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
NC_000001.11:g.28578661T>C, NC_000001.10:g.28905173T>C, NR_024127.2:n.635A>G, NR_024127.1:n.616A>G, NR_146382.1:n.1245A>G, NR_146381.1:n.976A>G, NR_146384.1:n.959A>G, NR_146387.1:n.840A>G, NR_146385.1:n.651A>G, NR_146386.1:n.622A>G, NR_146383.1:n.605A>G, NM_053040.1:c.159A>G
5.
rs1483375131 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 1:28579719
(GRCh38)
1:28906231
(GRCh37)
- Canonical SPDI:
- NC_000001.11:28579718:G:C
- Gene:
- SNHG12 (Varview), SNORA61 (Varview), SNORD99 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,downstream_transcript_variant,intron_variant,upstream_transcript_variant,non_coding_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by cluster
- MAF:
C=0.000004/1
(GnomAD_exomes)
C=0.000035/1
(TOMMO)
C=0.000546/1
(Korea1K)
C=0.000684/2
(KOREAN)
- HGVS:
6.
rs1482111925 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 1:28581721
(GRCh38)
1:28908233
(GRCh37)
- Canonical SPDI:
- NC_000001.11:28581720:T:A
- Gene:
- SNHG12 (Varview), SNORA44 (Varview), SNORA61 (Varview), SNORA16A (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
7.
rs1480173667 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:28579665
(GRCh38)
1:28906177
(GRCh37)
- Canonical SPDI:
- NC_000001.11:28579664:A:G
- Gene:
- SNHG12 (Varview), SNORA61 (Varview), SNORD99 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,downstream_transcript_variant,intron_variant,upstream_transcript_variant,non_coding_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
8.
rs1479155712 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 1:28578608
(GRCh38)
1:28905120
(GRCh37)
- Canonical SPDI:
- NC_000001.11:28578607:T:G
- Gene:
- TRNAU1AP (Varview), SNHG12 (Varview), SNORD99 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
NC_000001.11:g.28578608T>G, NC_000001.10:g.28905120T>G, NR_024127.2:n.688A>C, NR_024127.1:n.669A>C, NR_146382.1:n.1298A>C, NR_146381.1:n.1029A>C, NR_146384.1:n.1012A>C, NR_146387.1:n.893A>C, NR_146385.1:n.704A>C, NR_146386.1:n.675A>C, NR_146383.1:n.658A>C, NM_053040.1:c.*23A>C
9.
rs1478062384 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:28581126
(GRCh38)
1:28907638
(GRCh37)
- Canonical SPDI:
- NC_000001.11:28581125:G:A
- Gene:
- SNHG12 (Varview), SNORA44 (Varview), SNORA61 (Varview), SNORA16A (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
A=0.000035/1
(TOMMO)
- HGVS:
10.
rs1477081659 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:28578538
(GRCh38)
1:28905050
(GRCh37)
- Canonical SPDI:
- NC_000001.11:28578537:T:C
- Gene:
- TRNAU1AP (Varview), SNHG12 (Varview), SNORD99 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,downstream_transcript_variant,500B_downstream_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000034/9
(TOPMED)
C=0.001522/26
(TOMMO)
- HGVS:
NC_000001.11:g.28578538T>C, NC_000001.10:g.28905050T>C, NM_017846.5:c.*902T>C, NM_017846.4:c.*902T>C, NR_003109.2:n.1940T>C, NR_003109.1:n.2008T>C, NR_024127.2:n.758A>G, NR_024127.1:n.739A>G, NR_146382.1:n.1368A>G, NR_146381.1:n.1099A>G, NR_146384.1:n.1082A>G, NR_146387.1:n.963A>G, NR_146385.1:n.774A>G, NR_146386.1:n.745A>G, NR_146383.1:n.728A>G
11.
rs1474980864 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:28579613
(GRCh38)
1:28906125
(GRCh37)
- Canonical SPDI:
- NC_000001.11:28579612:A:G
- Gene:
- SNHG12 (Varview), SNORA61 (Varview), SNORD99 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant,downstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
12.
rs1471903423 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 1:28579943
(GRCh38)
1:28906456
(GRCh37)
- Canonical SPDI:
- NC_000001.11:28579943:CC:CCC
- Gene:
- SNHG12 (Varview), SNORA44 (Varview), SNORA61 (Varview), SNORD99 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant,downstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCC=0./0
(
ALFA)
C=0.000004/1
(GnomAD_exomes)
C=0.000007/1
(GnomAD)
- HGVS:
NC_000001.11:g.28579945dup, NC_000001.10:g.28906457dup, NR_024127.2:n.528dup, NR_024127.1:n.509dup, NR_146382.1:n.1138dup, NR_146381.1:n.545dup, NR_146384.1:n.528dup, NR_146387.1:n.409dup, NR_146385.1:n.544dup, NR_146386.1:n.545dup, NR_146383.1:n.528dup, NM_053040.1:c.52dup
13.
rs1467727201 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 1:28581169
(GRCh38)
1:28907681
(GRCh37)
- Canonical SPDI:
- NC_000001.11:28581168:C:A
- Gene:
- SNHG12 (Varview), SNORA44 (Varview), SNORA61 (Varview), SNORA16A (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000036/5
(GnomAD)
- HGVS:
14.
rs1462812100 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:28579711
(GRCh38)
1:28906223
(GRCh37)
- Canonical SPDI:
- NC_000001.11:28579710:T:C
- Gene:
- SNHG12 (Varview), SNORA61 (Varview), SNORD99 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,downstream_transcript_variant,intron_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000015/4
(TOPMED)
- HGVS:
15.
rs1462707612 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- T>-
[Show Flanks]
- Chromosome:
- 1:28578564
(GRCh38)
1:28905076
(GRCh37)
- Canonical SPDI:
- NC_000001.11:28578563:TTTT:TTT
- Gene:
- TRNAU1AP (Varview), SNHG12 (Varview), SNORD99 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTT=0.000071/1
(
ALFA)
-=0.000011/3
(TOPMED)
-=0.000014/2
(GnomAD)
- HGVS:
NC_000001.11:g.28578567del, NC_000001.10:g.28905079del, NR_024127.2:n.732del, NR_024127.1:n.713del, NR_146382.1:n.1342del, NR_146381.1:n.1073del, NR_146384.1:n.1056del, NR_146387.1:n.937del, NR_146385.1:n.748del, NR_146386.1:n.719del, NR_146383.1:n.702del, NM_053040.1:c.*67del
16.
rs1459036135 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 1:28581656
(GRCh38)
1:28908168
(GRCh37)
- Canonical SPDI:
- NC_000001.11:28581655:C:A,NC_000001.11:28581655:C:T
- Gene:
- SNHG12 (Varview), SNORA44 (Varview), SNORA61 (Varview), SNORA16A (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
NC_000001.11:g.28581656C>A, NC_000001.11:g.28581656C>T, NC_000001.10:g.28908168C>A, NC_000001.10:g.28908168C>T, NR_024127.2:n.218G>T, NR_024127.2:n.218G>A, NR_024127.1:n.199G>T, NR_024127.1:n.199G>A, NR_146381.1:n.218G>T, NR_146381.1:n.218G>A, NR_146384.1:n.218G>T, NR_146384.1:n.218G>A, NR_146387.1:n.218G>T, NR_146387.1:n.218G>A, NR_146385.1:n.218G>T, NR_146385.1:n.218G>A, NR_146386.1:n.218G>T, NR_146386.1:n.218G>A, NR_146383.1:n.218G>T, NR_146383.1:n.218G>A
17.
rs1456346120 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:28581136
(GRCh38)
1:28907648
(GRCh37)
- Canonical SPDI:
- NC_000001.11:28581135:T:C
- Gene:
- SNHG12 (Varview), SNORA44 (Varview), SNORA61 (Varview), SNORA16A (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_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)
C=0.000684/2
(KOREAN)
C=0.001026/17
(TOMMO)
C=0.001092/2
(Korea1K)
- HGVS:
18.
rs1455986886 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:28578547
(GRCh38)
1:28905059
(GRCh37)
- Canonical SPDI:
- NC_000001.11:28578546:T:C
- Gene:
- TRNAU1AP (Varview), SNHG12 (Varview), SNORD99 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000224/1
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000223/1
(Estonian)
- HGVS:
NC_000001.11:g.28578547T>C, NC_000001.10:g.28905059T>C, NR_024127.2:n.749A>G, NR_024127.1:n.730A>G, NR_146382.1:n.1359A>G, NR_146381.1:n.1090A>G, NR_146384.1:n.1073A>G, NR_146387.1:n.954A>G, NR_146385.1:n.765A>G, NR_146386.1:n.736A>G, NR_146383.1:n.719A>G, NM_053040.1:c.*84A>G
19.
rs1455460060 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:28579940
(GRCh38)
1:28906452
(GRCh37)
- Canonical SPDI:
- NC_000001.11:28579939:A:G
- Gene:
- SNHG12 (Varview), SNORA44 (Varview), SNORA61 (Varview), SNORD99 (Varview)
- Functional Consequence:
- downstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant,splice_donor_variant,500B_downstream_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
20.
rs1454168520 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:28580615
(GRCh38)
1:28907127
(GRCh37)
- Canonical SPDI:
- NC_000001.11:28580614:A:G
- Gene:
- SNHG12 (Varview), SNORA44 (Varview), SNORA61 (Varview), SNORA16A (Varview), SNORD99 (Varview)
- Functional Consequence:
- downstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000071/1
(
ALFA)
G=0.000011/3
(TOPMED)
- HGVS:
NC_000001.11:g.28580615A>G, NC_000001.10:g.28907127A>G, NR_024127.2:n.435T>C, NR_024127.1:n.416T>C, NR_146382.1:n.1045T>C, NR_146381.1:n.452T>C, NR_146384.1:n.435T>C, NR_146387.1:n.316T>C, NR_146385.1:n.316T>C, NR_146386.1:n.452T>C, NR_146383.1:n.435T>C, NM_053040.1:c.-42T>C