Links from Nucleotide
Items: 1 to 20 of 5920
1.
rs1491420537 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G,T
[Show Flanks]
- Chromosome:
- 7:73718962
(GRCh38)
7:73133293
(GRCh37)
- Canonical SPDI:
- NC_000007.14:73718962::G,NC_000007.14:73718962::T
- Gene:
- STX1A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.00007/1
(
ALFA)
G=0.00125/44
(GnomAD)
- HGVS:
2.
rs1491347090 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 7:73705664
(GRCh38)
7:73119995
(GRCh37)
- Canonical SPDI:
- NC_000007.14:73705664:GGGG:GGGGG
- Gene:
- STX1A (Varview), LOC105375350 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
GGGGG=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
3.
rs1490970449 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 7:73703723
(GRCh38)
7:73118053
(GRCh37)
- Canonical SPDI:
- NC_000007.14:73703722:G:A,NC_000007.14:73703722:G:T
- Gene:
- STX1A (Varview), LOC105375350 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000043/1
(
ALFA)
T=0.000004/1
(GnomAD_exomes)
- HGVS:
4.
rs1490939022 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 7:73702820
(GRCh38)
7:73117150
(GRCh37)
- Canonical SPDI:
- NC_000007.14:73702819:G:C
- Gene:
- STX1A (Varview), LOC105375350 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000015/4
(TOPMED)
C=0.000029/4
(GnomAD)
- HGVS:
5.
rs1490788280 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 7:73710504
(GRCh38)
7:73124834
(GRCh37)
- Canonical SPDI:
- NC_000007.14:73710503:C:T
- Gene:
- STX1A (Varview), MIR4284 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
T=0.000015/4
(TOPMED)
T=0.000212/4
(TOMMO)
- HGVS:
6.
rs1490492934 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:73717579
(GRCh38)
7:73131909
(GRCh37)
- Canonical SPDI:
- NC_000007.14:73717578:G:A
- Gene:
- STX1A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
G=0.5/2
(SGDP_PRJ)
- HGVS:
7.
rs1490477796 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 7:73703241
(GRCh38)
7:73117571
(GRCh37)
- Canonical SPDI:
- NC_000007.14:73703240:C:A
- Gene:
- STX1A (Varview), LOC105375350 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000029/4
(GnomAD)
A=0.00006/16
(TOPMED)
- HGVS:
8.
rs1490447379 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 7:73702368
(GRCh38)
7:73116698
(GRCh37)
- Canonical SPDI:
- NC_000007.14:73702367:C:T
- Gene:
- STX1A (Varview), LOC105375350 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_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.
rs1490391377 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAA>-
[Show Flanks]
- Chromosome:
- 7:73701530
(GRCh38)
7:73115860
(GRCh37)
- Canonical SPDI:
- NC_000007.14:73701528:AAAAA:A
- Gene:
- STX1A (Varview), LOC105375350 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.006829/81
(
ALFA)
-=0.005153/33
(1000Genomes)
-=0.006132/809
(GnomAD)
- HGVS:
10.
rs1490292300 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C,T
[Show Flanks]
- Chromosome:
- 7:73724241
(GRCh38)
7:73138571
(GRCh37)
- Canonical SPDI:
- NC_000007.14:73724240:G:C,NC_000007.14:73724240:G:T
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0./0
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
11.
rs1490249013 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 7:73709096
(GRCh38)
7:73123426
(GRCh37)
- Canonical SPDI:
- NC_000007.14:73709095:A:G
- Gene:
- STX1A (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(GnomAD_exomes)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
12.
rs1490235206 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 7:73723402
(GRCh38)
7:73137732
(GRCh37)
- Canonical SPDI:
- NC_000007.14:73723401:T:C
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
13.
rs1490222771 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:73708203
(GRCh38)
7:73122533
(GRCh37)
- Canonical SPDI:
- NC_000007.14:73708202:G:A
- Gene:
- STX1A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000023/6
(TOPMED)
A=0.000037/5
(GnomAD)
- HGVS:
14.
rs1490002116 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 7:73717145
(GRCh38)
7:73131475
(GRCh37)
- Canonical SPDI:
- NC_000007.14:73717144:C:T
- Gene:
- STX1A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
15.
rs1489782491 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:73717038
(GRCh38)
7:73131368
(GRCh37)
- Canonical SPDI:
- NC_000007.14:73717037:G:A
- Gene:
- STX1A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
16.
rs1489724211 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 7:73708602
(GRCh38)
7:73122932
(GRCh37)
- Canonical SPDI:
- NC_000007.14:73708601:GGGGG:GGGG
- Gene:
- STX1A (Varview)
- Functional Consequence:
- frameshift_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa
- MAF:
GGGG=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
NC_000007.14:g.73708606del, NC_000007.13:g.73122936del, NG_013360.1:g.16086del, NM_004603.4:c.195del, NM_004603.3:c.195del, NM_001165903.2:c.195del, NM_001165903.1:c.195del, NW_003871064.1:g.1237842del, XM_047420777.1:c.195del, XM_047420778.1:c.195del, NP_004594.1:p.Asn66fs, NP_001159375.1:p.Asn66fs, XP_047276733.1:p.Asn66fs, XP_047276734.1:p.Asn66fs
17.
rs1489697763 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 7:73722974
(GRCh38)
7:73137304
(GRCh37)
- Canonical SPDI:
- NC_000007.14:73722973:GGGGG:GGGG
- Validated:
- by frequency,by alfa
- MAF:
GGGG=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
18.
rs1489670786 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 7:73707899
(GRCh38)
7:73122229
(GRCh37)
- Canonical SPDI:
- NC_000007.14:73707898:C:T
- Gene:
- STX1A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
19.
rs1489247835 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 7:73697265
(GRCh38)
7:73111595
(GRCh37)
- Canonical SPDI:
- NC_000007.14:73697264:G:T
- Gene:
- BUD23 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000019/5
(TOPMED)
- HGVS:
20.
rs1489220276 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 7:73716624
(GRCh38)
7:73130954
(GRCh37)
- Canonical SPDI:
- NC_000007.14:73716623:C:T
- Gene:
- STX1A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS: