Links from Gene
Items: 1 to 20 of 984
1.
rs1490554659 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 1:173867160
(GRCh38)
1:173836299
(GRCh37)
- Canonical SPDI:
- NC_000001.11:173867160:TT:TTT
- Gene:
- SNORD79 (Varview), SNORD44 (Varview), GAS5 (Varview), ZBTB37 (Varview), SNORD75 (Varview), SNORD76 (Varview), SNORD77 (Varview), SNORD78 (Varview), SNORA103 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTT=0.000084/1
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
2.
rs1490138728 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:173865762
(GRCh38)
1:173834900
(GRCh37)
- Canonical SPDI:
- NC_000001.11:173865761:A:G
- Gene:
- SNORD81 (Varview), SNORD79 (Varview), SNORD80 (Varview), SNORD47 (Varview), SNORD44 (Varview), GAS5 (Varview), SNORD78 (Varview), SNORA103 (Varview)
- Functional Consequence:
- 500B_downstream_variant,intron_variant,upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
3.
rs1490123246 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 1:173866504
(GRCh38)
1:173835642
(GRCh37)
- Canonical SPDI:
- NC_000001.11:173866503:A:T
- Gene:
- SNORD79 (Varview), SNORD80 (Varview), SNORD44 (Varview), GAS5 (Varview), ZBTB37 (Varview), SNORD75 (Varview), SNORD76 (Varview), SNORD77 (Varview), SNORD78 (Varview), SNORA103 (Varview)
- Functional Consequence:
- intron_variant,500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0./0
(GnomAD)
T=0.000019/5
(TOPMED)
- HGVS:
4.
rs1489785597 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:173867137
(GRCh38)
1:173836275
(GRCh37)
- Canonical SPDI:
- NC_000001.11:173867136:A:G
- Gene:
- SNORD79 (Varview), SNORD44 (Varview), GAS5 (Varview), ZBTB37 (Varview), SNORD75 (Varview), SNORD76 (Varview), SNORD77 (Varview), SNORD78 (Varview), SNORA103 (Varview)
- Functional Consequence:
- intron_variant,upstream_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:
5.
rs1489141620 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:173867896
(GRCh38)
1:173837034
(GRCh37)
- Canonical SPDI:
- NC_000001.11:173867895:T:C
- Gene:
- SNORD44 (Varview), GAS5 (Varview), ZBTB37 (Varview), SNORD74 (Varview), SNORD75 (Varview), SNORD76 (Varview), SNORD77 (Varview), SNORA103 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
6.
rs1485460280 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:173867011
(GRCh38)
1:173836149
(GRCh37)
- Canonical SPDI:
- NC_000001.11:173867010:A:G
- Gene:
- SNORD79 (Varview), SNORD44 (Varview), GAS5 (Varview), ZBTB37 (Varview), SNORD75 (Varview), SNORD76 (Varview), SNORD77 (Varview), SNORD78 (Varview), SNORA103 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
G=0.000019/5
(TOPMED)
- HGVS:
NC_000001.11:g.173867011A>G, NC_000001.10:g.173836149A>G, NR_002578.3:n.65T>C, NR_002578.2:n.61T>C, NR_152521.1:n.191T>C, NR_152531.1:n.65T>C, NR_152532.1:n.65T>C, NR_152525.1:n.65T>C, NR_152533.1:n.65T>C, NR_152526.1:n.65T>C, NR_152524.1:n.65T>C, NR_152530.1:n.65T>C, NR_152523.1:n.65T>C, NR_152522.1:n.65T>C, NR_152534.1:n.65T>C, NR_152529.1:n.65T>C, NR_152528.1:n.65T>C, NR_152527.1:n.65T>C
7.
rs1483177767 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTT>-
[Show Flanks]
- Chromosome:
- 1:173866737
(GRCh38)
1:173835875
(GRCh37)
- Canonical SPDI:
- NC_000001.11:173866734:TTTTT:TT
- Gene:
- SNORD79 (Varview), SNORD80 (Varview), SNORD44 (Varview), GAS5 (Varview), ZBTB37 (Varview), SNORD75 (Varview), SNORD76 (Varview), SNORD77 (Varview), SNORD78 (Varview), SNORA103 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,downstream_transcript_variant,intron_variant,upstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
TT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
8.
rs1481177962 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 1:173866048
(GRCh38)
1:173835186
(GRCh37)
- Canonical SPDI:
- NC_000001.11:173866047:T:C,NC_000001.11:173866047:T:G
- Gene:
- SNORD81 (Varview), SNORD79 (Varview), SNORD80 (Varview), SNORD47 (Varview), SNORD44 (Varview), GAS5 (Varview), SNORD77 (Varview), SNORD78 (Varview), SNORA103 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,downstream_transcript_variant,intron_variant,upstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
9.
rs1480696151 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 1:173866489
(GRCh38)
1:173835627
(GRCh37)
- Canonical SPDI:
- NC_000001.11:173866488:T:G
- Gene:
- SNORD79 (Varview), SNORD80 (Varview), SNORD44 (Varview), GAS5 (Varview), ZBTB37 (Varview), SNORD75 (Varview), SNORD76 (Varview), SNORD77 (Varview), SNORD78 (Varview), SNORA103 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,downstream_transcript_variant,intron_variant,upstream_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:
10.
rs1480046349 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- T>-
[Show Flanks]
- Chromosome:
- 1:173865846
(GRCh38)
1:173834984
(GRCh37)
- Canonical SPDI:
- NC_000001.11:173865845:TT:T
- Gene:
- SNORD81 (Varview), SNORD79 (Varview), SNORD80 (Varview), SNORD47 (Varview), SNORD44 (Varview), GAS5 (Varview), SNORD77 (Varview), SNORD78 (Varview), SNORA103 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,downstream_transcript_variant,intron_variant,upstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TT=0.000142/2
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000068/18
(TOPMED)
- HGVS:
11.
rs1479110721 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 1:173867636
(GRCh38)
1:173836774
(GRCh37)
- Canonical SPDI:
- NC_000001.11:173867635:G:C
- Gene:
- SNORD44 (Varview), GAS5 (Varview), ZBTB37 (Varview), SNORD74 (Varview), SNORD75 (Varview), SNORD76 (Varview), SNORD77 (Varview), SNORD78 (Varview), SNORA103 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,downstream_transcript_variant,intron_variant,upstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency
- MAF:
C=0.000004/1
(GnomAD_exomes)
- HGVS:
12.
rs1478010378 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CTC>-
[Show Flanks]
- Chromosome:
- 1:173867836
(GRCh38)
1:173836974
(GRCh37)
- Canonical SPDI:
- NC_000001.11:173867833:TCCTC:TC
- Gene:
- SNORD44 (Varview), GAS5 (Varview), ZBTB37 (Varview), SNORD74 (Varview), SNORD75 (Varview), SNORD76 (Varview), SNORD77 (Varview), SNORA103 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TC=0.000071/1
(
ALFA)
-=0.000015/4
(TOPMED)
-=0.000021/3
(GnomAD)
- HGVS:
13.
rs1476107333 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 1:173866444
(GRCh38)
1:173835582
(GRCh37)
- Canonical SPDI:
- NC_000001.11:173866439:GAGAGA:GAGA
- Gene:
- SNORD79 (Varview), SNORD80 (Varview), SNORD47 (Varview), SNORD44 (Varview), GAS5 (Varview), ZBTB37 (Varview), SNORD75 (Varview), SNORD76 (Varview), SNORD77 (Varview), SNORD78 (Varview), SNORA103 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,downstream_transcript_variant,intron_variant,upstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
GAGA=0.000071/1
(
ALFA)
-=0.000011/3
(TOPMED)
- HGVS:
14.
rs1475907260 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:173865695
(GRCh38)
1:173834833
(GRCh37)
- Canonical SPDI:
- NC_000001.11:173865694:T:C
- Gene:
- SNORD81 (Varview), SNORD79 (Varview), SNORD80 (Varview), SNORD47 (Varview), SNORD44 (Varview), GAS5 (Varview), SNORD78 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,downstream_transcript_variant,intron_variant,upstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency
- MAF:
C=0.000004/1
(GnomAD_exomes)
- HGVS:
15.
rs1475844035 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:173866068
(GRCh38)
1:173835206
(GRCh37)
- Canonical SPDI:
- NC_000001.11:173866067:G:A
- Gene:
- SNORD81 (Varview), SNORD79 (Varview), SNORD80 (Varview), SNORD47 (Varview), SNORD44 (Varview), GAS5 (Varview), SNORD77 (Varview), SNORD78 (Varview), SNORA103 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,downstream_transcript_variant,intron_variant,upstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0./0
(GnomAD)
- HGVS:
16.
rs1474000001 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 1:173865639
(GRCh38)
1:173834777
(GRCh37)
- Canonical SPDI:
- NC_000001.11:173865638:T:G
- Gene:
- SNORD81 (Varview), SNORD79 (Varview), SNORD80 (Varview), SNORD47 (Varview), SNORD44 (Varview), GAS5 (Varview), SNORD78 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant,downstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency
- MAF:
G=0.000004/1
(GnomAD_exomes)
- HGVS:
17.
rs1473908879 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:173867581
(GRCh38)
1:173836719
(GRCh37)
- Canonical SPDI:
- NC_000001.11:173867580:A:G
- Gene:
- SNORD44 (Varview), GAS5 (Varview), ZBTB37 (Varview), SNORD74 (Varview), SNORD75 (Varview), SNORD76 (Varview), SNORD77 (Varview), SNORD78 (Varview), SNORA103 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant,downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
- HGVS:
18.
rs1473142478 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 1:173866035
(GRCh38)
1:173835173
(GRCh37)
- Canonical SPDI:
- NC_000001.11:173866034:T:G
- Gene:
- SNORD81 (Varview), SNORD79 (Varview), SNORD80 (Varview), SNORD47 (Varview), SNORD44 (Varview), GAS5 (Varview), SNORD77 (Varview), SNORD78 (Varview), SNORA103 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant,downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
19.
rs1473111301 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 1:173865656
(GRCh38)
1:173834794
(GRCh37)
- Canonical SPDI:
- NC_000001.11:173865655:C:G
- Gene:
- SNORD81 (Varview), SNORD79 (Varview), SNORD80 (Varview), SNORD47 (Varview), SNORD44 (Varview), GAS5 (Varview), SNORD78 (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=0.000007/1
(GnomAD)
- HGVS:
20.
rs1471737436 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:173867868
(GRCh38)
1:173837006
(GRCh37)
- Canonical SPDI:
- NC_000001.11:173867867:T:C
- Gene:
- SNORD44 (Varview), GAS5 (Varview), ZBTB37 (Varview), SNORD74 (Varview), SNORD75 (Varview), SNORD76 (Varview), SNORD77 (Varview), SNORA103 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS: