Links from Nucleotide
Items: 1 to 20 of 39
1.
rs1475515606 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 14:81202736
(GRCh38)
14:81669080
(GRCh37)
- Canonical SPDI:
- NC_000014.9:81202735:T:C
- Gene:
- GTF2A1 (Varview), SNORA79 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(GnomAD_exomes)
C=0.000007/1
(GnomAD)
C=0.000034/9
(TOPMED)
- HGVS:
4.
rs1450343885 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 14:81202729
(GRCh38)
14:81669073
(GRCh37)
- Canonical SPDI:
- NC_000014.9:81202728:A:G
- Gene:
- GTF2A1 (Varview), SNORA79 (Varview)
- Functional Consequence:
- intron_variant,non_coding_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:
5.
rs1445972839 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:81202753
(GRCh38)
14:81669097
(GRCh37)
- Canonical SPDI:
- NC_000014.9:81202752:G:A
- Gene:
- GTF2A1 (Varview), SNORA79 (Varview)
- Functional Consequence:
- intron_variant,non_coding_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:
6.
rs1436112997 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 14:81202803
(GRCh38)
14:81669147
(GRCh37)
- Canonical SPDI:
- NC_000014.9:81202802:A:C
- Gene:
- GTF2A1 (Varview), SNORA79 (Varview)
- Functional Consequence:
- intron_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:
9.
rs1345587399 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 14:81202771
(GRCh38)
14:81669115
(GRCh37)
- Canonical SPDI:
- NC_000014.9:81202770:T:C
- Gene:
- GTF2A1 (Varview), SNORA79 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency
- MAF:
C=0.000009/2
(GnomAD_exomes)
- HGVS:
10.
rs1319989323 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 14:81202768
(GRCh38)
14:81669112
(GRCh37)
- Canonical SPDI:
- NC_000014.9:81202767:A:C
- Gene:
- GTF2A1 (Varview), SNORA79 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency
- MAF:
C=0.000004/1
(GnomAD_exomes)
- HGVS:
11.
rs1315837003 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 14:81202801
(GRCh38)
14:81669145
(GRCh37)
- Canonical SPDI:
- NC_000014.9:81202800:C:G
- Gene:
- GTF2A1 (Varview), SNORA79 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
12.
rs1289175330 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTG>-
[Show Flanks]
- Chromosome:
- 14:81202700
(GRCh38)
14:81669044
(GRCh37)
- Canonical SPDI:
- NC_000014.9:81202697:TGTTTG:TG
- Gene:
- GTF2A1 (Varview), SNORA79 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TG=0./0
(
ALFA)
-=0.000004/1
(GnomAD_exomes)
-=0.000021/3
(GnomAD)
-=0.00003/8
(TOPMED)
- HGVS:
13.
rs1248337474 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 14:81202799
(GRCh38)
14:81669143
(GRCh37)
- Canonical SPDI:
- NC_000014.9:81202798:T:C
- Gene:
- GTF2A1 (Varview), SNORA79 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000004/1
(GnomAD_exomes)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
14.
rs1243878474 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 14:81202790
(GRCh38)
14:81669134
(GRCh37)
- Canonical SPDI:
- NC_000014.9:81202789:A:G
- Gene:
- GTF2A1 (Varview), SNORA79 (Varview)
- Functional Consequence:
- intron_variant,non_coding_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:
15.
rs1240962560 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 14:81202829
(GRCh38)
14:81669173
(GRCh37)
- Canonical SPDI:
- NC_000014.9:81202828:T:A
- Gene:
- GTF2A1 (Varview), SNORA79 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency
- MAF:
A=0.000019/4
(GnomAD_exomes)
- HGVS:
16.
rs1225326725 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:81202699
(GRCh38)
14:81669043
(GRCh37)
- Canonical SPDI:
- NC_000014.9:81202698:G:A
- Gene:
- GTF2A1 (Varview), SNORA79 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS:
18.
rs1214018863 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:81202719
(GRCh38)
14:81669063
(GRCh37)
- Canonical SPDI:
- NC_000014.9:81202718:G:A
- Gene:
- GTF2A1 (Varview), SNORA79 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS: