Links from Nucleotide
Items: 1 to 20 of 96
1.
rs1486513078 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 16:1965464
(GRCh38)
16:2015465
(GRCh37)
- Canonical SPDI:
- NC_000016.10:1965463:T:C
- Gene:
- RPS2 (Varview), RNF151 (Varview), SNORA78 (Varview), SNHG9 (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:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
2.
rs1463143051 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 16:1965087
(GRCh38)
16:2015088
(GRCh37)
- Canonical SPDI:
- NC_000016.10:1965086:C:G
- Gene:
- RPS2 (Varview), SNORA64 (Varview), RNF151 (Varview), SNORA78 (Varview), SNHG9 (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:
3.
rs1461928246 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 16:1965501
(GRCh38)
16:2015502
(GRCh37)
- Canonical SPDI:
- NC_000016.10:1965500:C:T
- Gene:
- RPS2 (Varview), RNF151 (Varview), SNORA78 (Varview), SNHG9 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
4.
rs1448199875 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 16:1965122
(GRCh38)
16:2015123
(GRCh37)
- Canonical SPDI:
- NC_000016.10:1965121:T:A
- Gene:
- RPS2 (Varview), RNF151 (Varview), SNORA78 (Varview), SNHG9 (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=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
5.
rs1447590381 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 16:1965118
(GRCh38)
16:2015119
(GRCh37)
- Canonical SPDI:
- NC_000016.10:1965117:C:G,NC_000016.10:1965117:C:T
- Gene:
- RPS2 (Varview), RNF151 (Varview), SNORA78 (Varview), SNHG9 (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)
G=0.000007/1
(GnomAD)
- HGVS:
6.
rs1430176328 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 16:1965123
(GRCh38)
16:2015124
(GRCh37)
- Canonical SPDI:
- NC_000016.10:1965122:C:A
- Gene:
- RPS2 (Varview), RNF151 (Varview), SNORA78 (Varview), SNHG9 (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=0.000011/3
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
7.
rs1428060556 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 16:1965451
(GRCh38)
16:2015452
(GRCh37)
- Canonical SPDI:
- NC_000016.10:1965450:G:A
- Gene:
- RPS2 (Varview), RNF151 (Varview), SNORA78 (Varview), SNHG9 (Varview)
- Functional Consequence:
- downstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
8.
rs1422175744 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 16:1965003
(GRCh38)
16:2015004
(GRCh37)
- Canonical SPDI:
- NC_000016.10:1965002:G:A
- Gene:
- RPS2 (Varview), SNORA64 (Varview), RNF151 (Varview), SNORA78 (Varview), SNHG9 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,non_coding_transcript_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)
- HGVS:
9.
rs1416861009 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 16:1965039
(GRCh38)
16:2015040
(GRCh37)
- Canonical SPDI:
- NC_000016.10:1965038:C:T
- Gene:
- RPS2 (Varview), SNORA64 (Varview), RNF151 (Varview), SNORA78 (Varview), SNHG9 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
10.
rs1415822603 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 16:1965492
(GRCh38)
16:2015493
(GRCh37)
- Canonical SPDI:
- NC_000016.10:1965491:C:T
- Gene:
- RPS2 (Varview), RNF151 (Varview), SNORA78 (Varview), SNHG9 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,downstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
11.
rs1401347256 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 16:1965448
(GRCh38)
16:2015449
(GRCh37)
- Canonical SPDI:
- NC_000016.10:1965447:G:A,NC_000016.10:1965447:G:C
- Gene:
- RPS2 (Varview), RNF151 (Varview), SNORA78 (Varview), SNHG9 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,500B_downstream_variant,downstream_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)
- HGVS:
12.
rs1394414064 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C,T
[Show Flanks]
- Chromosome:
- 16:1965083
(GRCh38)
16:2015084
(GRCh37)
- Canonical SPDI:
- NC_000016.10:1965082:G:A,NC_000016.10:1965082:G:C,NC_000016.10:1965082:G:T
- Gene:
- RPS2 (Varview), SNORA64 (Varview), RNF151 (Varview), SNORA78 (Varview), SNHG9 (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)
A=0.000021/3
(GnomAD)
- HGVS:
NC_000016.10:g.1965083G>A, NC_000016.10:g.1965083G>C, NC_000016.10:g.1965083G>T, NC_000016.9:g.2015084G>A, NC_000016.9:g.2015084G>C, NC_000016.9:g.2015084G>T, NW_025791799.1:g.31231G>A, NW_025791799.1:g.31231G>C, NW_025791799.1:g.31231G>T, NR_003142.2:n.88G>A, NR_003142.2:n.88G>C, NR_003142.2:n.88G>T
13.
rs1390987875 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 16:1965447
(GRCh38)
16:2015448
(GRCh37)
- Canonical SPDI:
- NC_000016.10:1965446:C:A
- Gene:
- RPS2 (Varview), RNF151 (Varview), SNORA78 (Varview), SNHG9 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,500B_downstream_variant,downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
14.
rs1386507338 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 16:1965088
(GRCh38)
16:2015089
(GRCh37)
- Canonical SPDI:
- NC_000016.10:1965087:T:C,NC_000016.10:1965087:T:G
- Gene:
- RPS2 (Varview), SNORA64 (Varview), RNF151 (Varview), SNORA78 (Varview), SNHG9 (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)
C=0.00007/1
(TOMMO)
- HGVS:
15.
rs1385386474 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 16:1965081
(GRCh38)
16:2015082
(GRCh37)
- Canonical SPDI:
- NC_000016.10:1965080:G:A
- Gene:
- RPS2 (Varview), SNORA64 (Varview), RNF151 (Varview), SNORA78 (Varview), SNHG9 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000021/3
(GnomAD)
A=0.000023/6
(TOPMED)
A=0.000142/2
(TOMMO)
- HGVS:
16.
rs1381201448 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 16:1965410
(GRCh38)
16:2015411
(GRCh37)
- Canonical SPDI:
- NC_000016.10:1965409:C:G,NC_000016.10:1965409:C:T
- Gene:
- RPS2 (Varview), RNF151 (Varview), SNORA78 (Varview), SNHG9 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
- HGVS:
17.
rs1374398721 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 16:1965432
(GRCh38)
16:2015433
(GRCh37)
- Canonical SPDI:
- NC_000016.10:1965431:C:T
- Gene:
- RPS2 (Varview), RNF151 (Varview), SNORA78 (Varview), SNHG9 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
18.
rs1343882766 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 16:1965463
(GRCh38)
16:2015464
(GRCh37)
- Canonical SPDI:
- NC_000016.10:1965462:C:T
- Gene:
- RPS2 (Varview), RNF151 (Varview), SNORA78 (Varview), SNHG9 (Varview)
- Functional Consequence:
- 500B_downstream_variant,2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
T=0.000007/1
(GnomAD)
T=0.000035/1
(TOMMO)
- HGVS:
19.
rs1313083776 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 16:1965491
(GRCh38)
16:2015492
(GRCh37)
- Canonical SPDI:
- NC_000016.10:1965490:G:T
- Gene:
- RPS2 (Varview), RNF151 (Varview), SNORA78 (Varview), SNHG9 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
20.
rs1309642106 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 16:1965080
(GRCh38)
16:2015081
(GRCh37)
- Canonical SPDI:
- NC_000016.10:1965079:A:G
- Gene:
- RPS2 (Varview), SNORA64 (Varview), RNF151 (Varview), SNORA78 (Varview), SNHG9 (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=0.000015/4
(TOPMED)
G=0.000021/3
(GnomAD)
- HGVS: