Links from Nucleotide
Items: 1 to 20 of 958
1.
rs1490926505 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 11:7438025
(GRCh38)
11:7459256
(GRCh37)
- Canonical SPDI:
- NC_000011.10:7438019:AGAGAGA:AGAGA
- Gene:
- SYT9 (Varview), SYT9-AS1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AGAGA=0.000224/1
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000223/1
(Estonian)
- HGVS:
2.
rs1490897610 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:7438642
(GRCh38)
11:7459873
(GRCh37)
- Canonical SPDI:
- NC_000011.10:7438641:G:A
- Gene:
- SYT9 (Varview), SYT9-AS1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
3.
rs1490824812 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 11:7437652
(GRCh38)
11:7458884
(GRCh37)
- Canonical SPDI:
- NC_000011.10:7437652:TT:TTT
- Gene:
- SYT9 (Varview), SYT9-AS1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTT=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
T=0.000177/3
(TOMMO)
- HGVS:
4.
rs1489186700 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 11:7440920
(GRCh38)
11:7462151
(GRCh37)
- Canonical SPDI:
- NC_000011.10:7440919:G:C
- Gene:
- SYT9 (Varview), SYT9-AS1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000066/1
(
ALFA)
C=0.000014/2
(GnomAD)
C=0.000223/1
(Estonian)
- HGVS:
5.
rs1488102206 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:7439078
(GRCh38)
11:7460309
(GRCh37)
- Canonical SPDI:
- NC_000011.10:7439077:C:T
- Gene:
- SYT9 (Varview), SYT9-AS1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
6.
rs1488066619 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:7440611
(GRCh38)
11:7461842
(GRCh37)
- Canonical SPDI:
- NC_000011.10:7440610:G:A
- Gene:
- SYT9 (Varview), SYT9-AS1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000019/5
(TOPMED)
- HGVS:
7.
rs1488053053 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 11:7441266
(GRCh38)
11:7462497
(GRCh37)
- Canonical SPDI:
- NC_000011.10:7441265:T:G
- Gene:
- SYT9 (Varview), SYT9-AS1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000071/1
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
8.
rs1487852697 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:7438042
(GRCh38)
11:7459273
(GRCh37)
- Canonical SPDI:
- NC_000011.10:7438041:G:A
- Gene:
- SYT9 (Varview), SYT9-AS1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
A=0.000019/5
(TOPMED)
A=0.000035/1
(TOMMO)
- HGVS:
9.
rs1487739322 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 11:7437722
(GRCh38)
11:7458953
(GRCh37)
- Canonical SPDI:
- NC_000011.10:7437721:G:C
- Gene:
- SYT9 (Varview), SYT9-AS1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000021/3
(GnomAD)
- HGVS:
10.
rs1487500906 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 11:7440083
(GRCh38)
11:7461314
(GRCh37)
- Canonical SPDI:
- NC_000011.10:7440082:C:G
- Gene:
- SYT9 (Varview), SYT9-AS1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
11.
rs1483056712 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 11:7437813
(GRCh38)
11:7459044
(GRCh37)
- Canonical SPDI:
- NC_000011.10:7437812:T:C
- Gene:
- SYT9 (Varview), SYT9-AS1 (Varview)
- Functional Consequence:
- intron_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000014/2
(GnomAD)
C=0.000019/5
(TOPMED)
- HGVS:
13.
rs1481953429 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:7440954
(GRCh38)
11:7462185
(GRCh37)
- Canonical SPDI:
- NC_000011.10:7440953:G:A
- Gene:
- SYT9 (Varview), SYT9-AS1 (Varview)
- Functional Consequence:
- intron_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
14.
rs1481859813 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:7438141
(GRCh38)
11:7459372
(GRCh37)
- Canonical SPDI:
- NC_000011.10:7438140:G:A
- Gene:
- SYT9 (Varview), SYT9-AS1 (Varview)
- Functional Consequence:
- intron_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
16.
rs1481085731 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 11:7438780
(GRCh38)
11:7460011
(GRCh37)
- Canonical SPDI:
- NC_000011.10:7438779:C:A,NC_000011.10:7438779:C:T
- Gene:
- SYT9 (Varview), SYT9-AS1 (Varview)
- Functional Consequence:
- intron_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
17.
rs1480680873 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 11:7438826
(GRCh38)
11:7460057
(GRCh37)
- Canonical SPDI:
- NC_000011.10:7438825:C:
- Gene:
- SYT9 (Varview), SYT9-AS1 (Varview)
- Functional Consequence:
- intron_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.000142/2
(
ALFA)
-=0.000072/10
(GnomAD)
-=0.000261/69
(TOPMED)
- HGVS:
18.
rs1479802914 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 11:7439259
(GRCh38)
11:7460490
(GRCh37)
- Canonical SPDI:
- NC_000011.10:7439258:T:C
- Gene:
- SYT9 (Varview), SYT9-AS1 (Varview)
- Functional Consequence:
- intron_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
20.
rs1478730047 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:7440718
(GRCh38)
11:7461949
(GRCh37)
- Canonical SPDI:
- NC_000011.10:7440717:A:G
- Gene:
- SYT9 (Varview), SYT9-AS1 (Varview)
- Functional Consequence:
- intron_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS: