Links from Nucleotide
Items: 1 to 20 of 8864
3.
rs1491197625 has merged into rs10707508 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTT>-,T,TT,TTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 11:436073
(GRCh38)
11:436073
(GRCh37)
- Canonical SPDI:
- NC_000011.10:436063:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000011.10:436063:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000011.10:436063:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000011.10:436063:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000011.10:436063:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000011.10:436063:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000011.10:436063:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000011.10:436063:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000011.10:436063:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000011.10:436063:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:436063:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:436063:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:436063:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:436063:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:436063:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:436063:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:436063:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:436063:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:436063:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:436063:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:436063:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:436063:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:436063:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:436063:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- ANO9 (Varview), LOC105376506 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000011.10:g.436073_436084del, NC_000011.10:g.436074_436084del, NC_000011.10:g.436075_436084del, NC_000011.10:g.436076_436084del, NC_000011.10:g.436079_436084del, NC_000011.10:g.436081_436084del, NC_000011.10:g.436082_436084del, NC_000011.10:g.436083_436084del, NC_000011.10:g.436084del, NC_000011.10:g.436084dup, NC_000011.10:g.436083_436084dup, NC_000011.10:g.436082_436084dup, NC_000011.10:g.436064_436084T[24]CTTTTTTTTTTTTTTTTTTTTTT[1], NC_000011.10:g.436081_436084dup, NC_000011.10:g.436064_436084T[25]CTTTTTTTTTTTTTTTTTTTTTT[1], NC_000011.10:g.436080_436084dup, NC_000011.10:g.436064_436084T[26]CTTTTTTTTTTTTTTTTTTTTTT[1], NC_000011.10:g.436079_436084dup, NC_000011.10:g.436074_436084dup, NC_000011.10:g.436064_436084T[35]CTTTTTTTTTTTTTTTTTTTTTT[1], NC_000011.10:g.436064_436084dup, NC_000011.10:g.436084_436085insTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.10:g.436064_436084T[44]CTTTTTTTTTTTTTTTTTTTTTT[1], NC_000011.10:g.436084_436085insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.436073_436084del, NC_000011.9:g.436074_436084del, NC_000011.9:g.436075_436084del, NC_000011.9:g.436076_436084del, NC_000011.9:g.436079_436084del, NC_000011.9:g.436081_436084del, NC_000011.9:g.436082_436084del, NC_000011.9:g.436083_436084del, NC_000011.9:g.436084del, NC_000011.9:g.436084dup, NC_000011.9:g.436083_436084dup, NC_000011.9:g.436082_436084dup, NC_000011.9:g.436064_436084T[24]CTTTTTTTTTTTTTTTTTTTTTT[1], NC_000011.9:g.436081_436084dup, NC_000011.9:g.436064_436084T[25]CTTTTTTTTTTTTTTTTTTTTTT[1], NC_000011.9:g.436080_436084dup, NC_000011.9:g.436064_436084T[26]CTTTTTTTTTTTTTTTTTTTTTT[1], NC_000011.9:g.436079_436084dup, NC_000011.9:g.436074_436084dup, NC_000011.9:g.436064_436084T[35]CTTTTTTTTTTTTTTTTTTTTTT[1], NC_000011.9:g.436064_436084dup, NC_000011.9:g.436084_436085insTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.436064_436084T[44]CTTTTTTTTTTTTTTTTTTTTTT[1], NC_000011.9:g.436084_436085insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_052610.1:g.10937_10948del, NG_052610.1:g.10938_10948del, NG_052610.1:g.10939_10948del, NG_052610.1:g.10940_10948del, NG_052610.1:g.10943_10948del, NG_052610.1:g.10945_10948del, NG_052610.1:g.10946_10948del, NG_052610.1:g.10947_10948del, NG_052610.1:g.10948del, NG_052610.1:g.10948dup, NG_052610.1:g.10947_10948dup, NG_052610.1:g.10946_10948dup, NG_052610.1:g.10928_10948A[22]GAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_052610.1:g.10945_10948dup, NG_052610.1:g.10928_10948A[22]GAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_052610.1:g.10944_10948dup, NG_052610.1:g.10928_10948A[22]GAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_052610.1:g.10943_10948dup, NG_052610.1:g.10938_10948dup, NG_052610.1:g.10928_10948A[22]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_052610.1:g.10928_10948dup, NG_052610.1:g.10948_10949insAAAAAAAAAAAAAAAAAAAAAAA, NG_052610.1:g.10928_10948A[22]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_052610.1:g.10948_10949insAAAAAAAAAAAAAAAAAAAAAAAAAAA
4.
rs1491118428 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AG>-
[Show Flanks]
- Chromosome:
- 11:435773
(GRCh38)
11:435773
(GRCh37)
- Canonical SPDI:
- NC_000011.10:435772:AG:
- Gene:
- ANO9 (Varview), LOC105376506 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000014/2
(GnomAD)
- HGVS:
5.
rs1490949899 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,T
[Show Flanks]
- Chromosome:
- 11:434762
(GRCh38)
11:434762
(GRCh37)
- Canonical SPDI:
- NC_000011.10:434761:A:C,NC_000011.10:434761:A:T
- Gene:
- ANO9 (Varview), LOC105376506 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,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:
NC_000011.10:g.434762A>C, NC_000011.10:g.434762A>T, NC_000011.9:g.434762A>C, NC_000011.9:g.434762A>T, NG_052610.1:g.12250T>G, NG_052610.1:g.12250T>A, XR_001748090.2:n.771A>C, XR_001748090.2:n.771A>T, XR_001748090.1:n.655A>C, XR_001748090.1:n.655A>T, XR_007062542.1:n.1328A>C, XR_007062542.1:n.1328A>T, XR_007062541.1:n.771A>C, XR_007062541.1:n.771A>T
7.
rs1490752979 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 11:439689
(GRCh38)
11:439689
(GRCh37)
- Canonical SPDI:
- NC_000011.10:439688:C:G
- Gene:
- ANO9 (Varview), LOC105376506 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
8.
rs1490748860 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:429647
(GRCh38)
11:429647
(GRCh37)
- Canonical SPDI:
- NC_000011.10:429646:C:T
- Gene:
- ANO9 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000047/1
(
ALFA)
T=0.000004/1
(GnomAD_exomes)
- HGVS:
9.
rs1490707960 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 11:438622
(GRCh38)
11:438622
(GRCh37)
- Canonical SPDI:
- NC_000011.10:438621:C:A,NC_000011.10:438621:C:T
- Gene:
- ANO9 (Varview), LOC105376506 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
NC_000011.10:g.438622C>A, NC_000011.10:g.438622C>T, NC_000011.9:g.438622C>A, NC_000011.9:g.438622C>T, NG_052610.1:g.8390G>T, NG_052610.1:g.8390G>A, XR_001748090.2:n.2556C>A, XR_001748090.2:n.2556C>T, XR_001748090.1:n.2440C>A, XR_001748090.1:n.2440C>T, XR_007062542.1:n.3113C>A, XR_007062542.1:n.3113C>T, XR_007062541.1:n.1172C>A, XR_007062541.1:n.1172C>T
10.
rs1490614375 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:437521
(GRCh38)
11:437521
(GRCh37)
- Canonical SPDI:
- NC_000011.10:437520:C:T
- Gene:
- ANO9 (Varview), LOC105376506 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000029/4
(GnomAD)
- HGVS:
11.
rs1490409367 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:425572
(GRCh38)
11:425572
(GRCh37)
- Canonical SPDI:
- NC_000011.10:425571:G:A
- Gene:
- ANO9 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.00045/2
(
ALFA)
A=0.00014/2
(TOMMO)
A=0.00022/1
(Estonian)
- HGVS:
12.
rs1490301561 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 11:416929
(GRCh38)
11:416929
(GRCh37)
- Canonical SPDI:
- NC_000011.10:416928:T:C
- Gene:
- SIGIRR (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_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:
14.
rs1490182019 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:434375
(GRCh38)
11:434375
(GRCh37)
- Canonical SPDI:
- NC_000011.10:434374:A:G
- Gene:
- ANO9 (Varview), LOC105376506 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
15.
rs1490131289 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:435137
(GRCh38)
11:435137
(GRCh37)
- Canonical SPDI:
- NC_000011.10:435136:G:A
- Gene:
- ANO9 (Varview), LOC105376506 (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.
rs1490031768 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 11:423518
(GRCh38)
11:423518
(GRCh37)
- Canonical SPDI:
- NC_000011.10:423517:T:G
- Gene:
- ANO9 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
17.
rs1489998712 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 11:424910
(GRCh38)
11:424910
(GRCh37)
- Canonical SPDI:
- NC_000011.10:424909:T:C
- Gene:
- ANO9 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000011/3
(TOPMED)
- HGVS:
19.
rs1489741463 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 11:429939
(GRCh38)
11:429939
(GRCh37)
- Canonical SPDI:
- NC_000011.10:429938:T:C,NC_000011.10:429938:T:G
- Gene:
- ANO9 (Varview), LOC105376506 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
G=0.0203/57
(KOREAN)
T=0.5/1
(SGDP_PRJ)
- HGVS:
20.
rs1489627129 has merged into rs148462393 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CACACACA>-,CA,CACA,CACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA
[Show Flanks]
- Chromosome:
- 11:421385
(GRCh38)
11:421385
(GRCh37)
- Canonical SPDI:
- NC_000011.10:421370:CACACACACACACACACACACA:CACACACACACACA,NC_000011.10:421370:CACACACACACACACACACACA:CACACACACACACACA,NC_000011.10:421370:CACACACACACACACACACACA:CACACACACACACACACA,NC_000011.10:421370:CACACACACACACACACACACA:CACACACACACACACACACA,NC_000011.10:421370:CACACACACACACACACACACA:CACACACACACACACACACACACA,NC_000011.10:421370:CACACACACACACACACACACA:CACACACACACACACACACACACACA,NC_000011.10:421370:CACACACACACACACACACACA:CACACACACACACACACACACACACACA,NC_000011.10:421370:CACACACACACACACACACACA:CACACACACACACACACACACACACACACA
- Gene:
- ANO9 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CACACACACACACACA=0./0
(
ALFA)
CA=0.04/24
(NorthernSweden)
- HGVS:
NC_000011.10:g.421371CA[7], NC_000011.10:g.421371CA[8], NC_000011.10:g.421371CA[9], NC_000011.10:g.421371CA[10], NC_000011.10:g.421371CA[12], NC_000011.10:g.421371CA[13], NC_000011.10:g.421371CA[14], NC_000011.10:g.421371CA[15], NC_000011.9:g.421371CA[7], NC_000011.9:g.421371CA[8], NC_000011.9:g.421371CA[9], NC_000011.9:g.421371CA[10], NC_000011.9:g.421371CA[12], NC_000011.9:g.421371CA[13], NC_000011.9:g.421371CA[14], NC_000011.9:g.421371CA[15], NG_052610.1:g.25620TG[7], NG_052610.1:g.25620TG[8], NG_052610.1:g.25620TG[9], NG_052610.1:g.25620TG[10], NG_052610.1:g.25620TG[12], NG_052610.1:g.25620TG[13], NG_052610.1:g.25620TG[14], NG_052610.1:g.25620TG[15]