Links from Nucleotide
Items: 1 to 20 of 781
2.
rs1490855747 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 9:136726382
(GRCh38)
9:139620834
(GRCh37)
- Canonical SPDI:
- NC_000009.12:136726381:A:G
- Gene:
- SNHG7 (Varview), SNORA17A (Varview), SNORA17B (Varview), LOC124900276 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
3.
rs1490854453 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 9:136725945
(GRCh38)
9:139620397
(GRCh37)
- Canonical SPDI:
- NC_000009.12:136725944:CCCC:CCC
- Gene:
- SNHG7 (Varview), SNORA17B (Varview), LOC124900276 (Varview)
- Functional Consequence:
- 500B_downstream_variant,non_coding_transcript_variant,intron_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
CCC=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
4.
rs1490482146 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 9:136726652
(GRCh38)
9:139621104
(GRCh37)
- Canonical SPDI:
- NC_000009.12:136726651:C:A
- Gene:
- SNHG7 (Varview), SNORA17A (Varview), SNORA17B (Varview), LOC124900276 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000151/40
(TOPMED)
A=0.000159/22
(GnomAD)
- HGVS:
5.
rs1490315230 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 9:136726935
(GRCh38)
9:139621387
(GRCh37)
- Canonical SPDI:
- NC_000009.12:136726934:T:G
- Gene:
- SNHG7 (Varview), SNORA17A (Varview), SNORA17B (Varview), LOC124900276 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,intron_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:
6.
rs1489872225 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 9:136726578
(GRCh38)
9:139621030
(GRCh37)
- Canonical SPDI:
- NC_000009.12:136726577:C:G,NC_000009.12:136726577:C:T
- Gene:
- SNHG7 (Varview), SNORA17A (Varview), SNORA17B (Varview), LOC124900276 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
7.
rs1488631632 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:136727920
(GRCh38)
9:139622372
(GRCh37)
- Canonical SPDI:
- NC_000009.12:136727919:C:T
- Gene:
- SNHG7 (Varview), SNORA17A (Varview), SNORA17B (Varview), LOC124900276 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
8.
rs1486969967 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 9:136728107
(GRCh38)
9:139622559
(GRCh37)
- Canonical SPDI:
- NC_000009.12:136728106:C:G
- Gene:
- SNHG7 (Varview), SNORA17A (Varview), SNORA17B (Varview), LOC124900276 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
9.
rs1486060027 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:136725508
(GRCh38)
9:139619960
(GRCh37)
- Canonical SPDI:
- NC_000009.12:136725507:G:A
- Gene:
- SNHG7 (Varview), LOC124900276 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000084/1
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000015/4
(TOPMED)
- HGVS:
10.
rs1484404883 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 9:136725848
(GRCh38)
9:139620300
(GRCh37)
- Canonical SPDI:
- NC_000009.12:136725847:C:
- Gene:
- SNHG7 (Varview), SNORA17B (Varview), LOC124900276 (Varview)
- Functional Consequence:
- 500B_downstream_variant,non_coding_transcript_variant,intron_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.000053/1
(
ALFA)
-=0.000008/1
(GnomAD)
-=0.000223/1
(Estonian)
- HGVS:
11.
rs1483426479 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:136726521
(GRCh38)
9:139620973
(GRCh37)
- Canonical SPDI:
- NC_000009.12:136726520:C:T
- Gene:
- SNHG7 (Varview), SNORA17A (Varview), SNORA17B (Varview), LOC124900276 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.0002/1
(
ALFA)
T=0.0002/1
(Estonian)
- HGVS:
12.
rs1482430821 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 9:136725669
(GRCh38)
9:139620121
(GRCh37)
- Canonical SPDI:
- NC_000009.12:136725668:C:G
- Gene:
- SNHG7 (Varview), SNORA17B (Varview), LOC124900276 (Varview)
- Functional Consequence:
- 500B_downstream_variant,non_coding_transcript_variant,intron_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
13.
rs1481866985 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:136725729
(GRCh38)
9:139620181
(GRCh37)
- Canonical SPDI:
- NC_000009.12:136725728:G:A
- Gene:
- SNHG7 (Varview), SNORA17B (Varview), LOC124900276 (Varview)
- Functional Consequence:
- 500B_downstream_variant,non_coding_transcript_variant,intron_variant,downstream_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.
rs1481771520 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:136725621
(GRCh38)
9:139620073
(GRCh37)
- Canonical SPDI:
- NC_000009.12:136725620:G:A
- Gene:
- SNHG7 (Varview), SNORA17B (Varview), LOC124900276 (Varview)
- Functional Consequence:
- 500B_downstream_variant,non_coding_transcript_variant,intron_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000019/5
(TOPMED)
- HGVS:
15.
rs1481142690 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 9:136725804
(GRCh38)
9:139620256
(GRCh37)
- Canonical SPDI:
- NC_000009.12:136725803:T:C
- Gene:
- SNHG7 (Varview), SNORA17B (Varview), LOC124900276 (Varview)
- Functional Consequence:
- 500B_downstream_variant,non_coding_transcript_variant,intron_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.00085/10
(
ALFA)
C=0.00224/4
(Korea1K)
C=0.09898/290
(KOREAN)
- HGVS:
16.
rs1480369469 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 9:136726280
(GRCh38)
9:139620732
(GRCh37)
- Canonical SPDI:
- NC_000009.12:136726279:A:G
- Gene:
- SNHG7 (Varview), SNORA17A (Varview), SNORA17B (Varview), LOC124900276 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
17.
rs1479872310 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 9:136727000
(GRCh38)
9:139621452
(GRCh37)
- Canonical SPDI:
- NC_000009.12:136726999:T:A
- Gene:
- SNHG7 (Varview), SNORA17A (Varview), SNORA17B (Varview), LOC124900276 (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:
18.
rs1479856015 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:136726364
(GRCh38)
9:139620816
(GRCh37)
- Canonical SPDI:
- NC_000009.12:136726363:G:A
- Gene:
- SNHG7 (Varview), SNORA17A (Varview), SNORA17B (Varview), LOC124900276 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000034/9
(TOPMED)
A=0.000057/8
(GnomAD)
- HGVS:
19.
rs1479804470 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TAGTTACATTGGAGGATT
[Show Flanks]
- Chromosome:
- 9:136726994
(GRCh38)
9:139621447
(GRCh37)
- Canonical SPDI:
- NC_000009.12:136726994:TTAGTTACATTGGAGGATT:TTAGTTACATTGGAGGATTTAGTTACATTGGAGGATT
- Gene:
- SNHG7 (Varview), SNORA17A (Varview), SNORA17B (Varview), LOC124900276 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTAGTTACATTGGAGGATTTAGTTACATTGGAGGATT=0./0
(
ALFA)
TTAGTTACATTGGAGGAT=0.000007/1
(GnomAD)
TTAGTTACATTGGAGGAT=0.000008/2
(TOPMED)
- HGVS:
20.
rs1478056427 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 9:136725318
(GRCh38)
9:139619770
(GRCh37)
- Canonical SPDI:
- NC_000009.12:136725317:C:A,NC_000009.12:136725317:C:T
- Gene:
- SNHG7 (Varview), LOC124900276 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS: