Links from Gene
Items: 1 to 20 of 662
1.
rs1490687380 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 17:76559346
(GRCh38)
17:74555428
(GRCh37)
- Canonical SPDI:
- NC_000017.11:76559345:A:G
- Gene:
- SNORD1B (Varview), SNORD1C (Varview), SNHG16 (Varview)
- Functional Consequence:
- downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000011/3
(TOPMED)
- HGVS:
3.
rs1488654083 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 17:76558054
(GRCh38)
17:74554136
(GRCh37)
- Canonical SPDI:
- NC_000017.11:76558053:A:G
- Gene:
- SNORD1C (Varview), SNHG16 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
4.
rs1488032284 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 17:76557901
(GRCh38)
17:74553983
(GRCh37)
- Canonical SPDI:
- NC_000017.11:76557900:C:A
- Gene:
- SNORD1C (Varview), SNHG16 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
5.
rs1487048564 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 17:76557662
(GRCh38)
17:74553744
(GRCh37)
- Canonical SPDI:
- NC_000017.11:76557661:C:A
- Gene:
- SNORD1C (Varview), SNHG16 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
6.
rs1486868383 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 17:76557641
(GRCh38)
17:74553723
(GRCh37)
- Canonical SPDI:
- NC_000017.11:76557640:C:A
- Gene:
- SNORD1C (Varview), SNHG16 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000029/4
(GnomAD)
- HGVS:
7.
rs1486831002 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 17:76558727
(GRCh38)
17:74554809
(GRCh37)
- Canonical SPDI:
- NC_000017.11:76558726:A:G
- Gene:
- SNORD1C (Varview), SNHG16 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
8.
rs1485673616 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 17:76557189
(GRCh38)
17:74553271
(GRCh37)
- Canonical SPDI:
- NC_000017.11:76557188:G:T
- Gene:
- SNORD1C (Varview), SNHG16 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_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:
9.
rs1484267563 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 17:76557301
(GRCh38)
17:74553384
(GRCh37)
- Canonical SPDI:
- NC_000017.11:76557301:G:GG
- Gene:
- SNORD1C (Varview), SNHG16 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GG=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000019/5
(TOPMED)
- HGVS:
10.
rs1483565514 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 17:76556801
(GRCh38)
17:74552883
(GRCh37)
- Canonical SPDI:
- NC_000017.11:76556800:G:C
- Gene:
- SNORD1C (Varview), SNHG16 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
11.
rs1482196191 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 17:76558118
(GRCh38)
17:74554200
(GRCh37)
- Canonical SPDI:
- NC_000017.11:76558117:C:T
- Gene:
- SNORD1C (Varview), SNHG16 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
13.
rs1480718860 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 17:76558191
(GRCh38)
17:74554273
(GRCh37)
- Canonical SPDI:
- NC_000017.11:76558190:T:C
- Gene:
- SNORD1C (Varview), SNHG16 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.000071/1
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
14.
rs1480247243 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 17:76557454
(GRCh38)
17:74553536
(GRCh37)
- Canonical SPDI:
- NC_000017.11:76557453:C:G
- Gene:
- SNORD1C (Varview), SNHG16 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
C=0.5/1
(SGDP_PRJ)
- HGVS:
15.
rs1478009008 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 17:76556808
(GRCh38)
17:74552890
(GRCh37)
- Canonical SPDI:
- NC_000017.11:76556807:A:G
- Gene:
- SNORD1C (Varview), SNHG16 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_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:
16.
rs1477598041 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:76558037
(GRCh38)
17:74554119
(GRCh37)
- Canonical SPDI:
- NC_000017.11:76558036:G:A
- Gene:
- SNORD1C (Varview), SNHG16 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
17.
rs1477238393 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 17:76557878
(GRCh38)
17:74553960
(GRCh37)
- Canonical SPDI:
- NC_000017.11:76557877:A:G
- Gene:
- SNORD1C (Varview), SNHG16 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
G=0.000015/4
(TOPMED)
- HGVS:
18.
rs1472831940 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 17:76557808
(GRCh38)
17:74553890
(GRCh37)
- Canonical SPDI:
- NC_000017.11:76557807:T:G
- Gene:
- SNORD1C (Varview), SNHG16 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
19.
rs1471493447 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 17:76557687
(GRCh38)
17:74553769
(GRCh37)
- Canonical SPDI:
- NC_000017.11:76557686:T:C
- Gene:
- SNORD1C (Varview), SNHG16 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency
- MAF:
C=0.000007/1
(GnomAD)
- HGVS:
20.
rs1467823209 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 17:76559005
(GRCh38)
17:74555087
(GRCh37)
- Canonical SPDI:
- NC_000017.11:76559004:T:A
- Gene:
- SNORD1C (Varview), SNHG16 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency
- MAF:
A=0.000006/1
(GnomAD_exomes)
- HGVS: