Links from Nucleotide
Items: 1 to 20 of 283
1.
rs1489380797 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- X:141649072
(GRCh38)
X:140737202
(GRCh37)
- Canonical SPDI:
- NC_000023.11:141649071:T:C
- Gene:
- SPANXA2-OT1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
- HGVS:
2.
rs1486272526 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- X:141502918
(GRCh38)
X:140590912
(GRCh37)
- Canonical SPDI:
- NC_000023.11:141502917:C:G
- Gene:
- SPANXA2-OT1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000019/2
(GnomAD)
- HGVS:
4.
rs1482674573 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- X:141649311
(GRCh38)
X:140737441
(GRCh37)
- Canonical SPDI:
- NC_000023.11:141649310:T:C
- Gene:
- SPANXA2-OT1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
5.
rs1481416414 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- X:141503098
(GRCh38)
X:140591107
(GRCh37)
- Canonical SPDI:
- NC_000023.11:141503097:C:G,NC_000023.11:141503097:C:T
- Gene:
- SPANXA2-OT1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.00008/1
(
ALFA)
T=0.0001/2
(TOMMO)
- HGVS:
7.
rs1475368492 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- X:141514789
(GRCh38)
X:140602844
(GRCh37)
- Canonical SPDI:
- NC_000023.11:141514788:C:G,NC_000023.11:141514788:C:T
- Gene:
- SPANXA2-OT1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
T=0.00002/2
(GnomAD)
T=0.000547/7
(TOMMO)
T=0.000624/3
(1000Genomes)
T=0.000701/2
(KOREAN)
- HGVS:
9.
rs1469964876 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- X:141502856
(GRCh38)
X:140590850
(GRCh37)
- Canonical SPDI:
- NC_000023.11:141502855:A:G
- Gene:
- SPANXA2-OT1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000009/1
(GnomAD)
- HGVS:
11.
rs1466946744 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C,T
[Show Flanks]
- Chromosome:
- X:141648940
(GRCh38)
X:140737070
(GRCh37)
- Canonical SPDI:
- NC_000023.11:141648939:G:C,NC_000023.11:141648939:G:T
- Gene:
- SPANXA2-OT1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
C=0.00001/1
(GnomAD)
- HGVS:
12.
rs1465923450 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- X:141649628
(GRCh38)
X:140737758
(GRCh37)
- Canonical SPDI:
- NC_000023.11:141649627:T:C,NC_000023.11:141649627:T:G
- Gene:
- SPANXA2-OT1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
C=0.00001/1
(GnomAD)
- HGVS:
13.
rs1463857767 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- X:141514775
(GRCh38)
X:140602830
(GRCh37)
- Canonical SPDI:
- NC_000023.11:141514774:C:G
- Gene:
- SPANXA2-OT1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.00003/3
(GnomAD)
- HGVS:
14.
rs1462709831 has merged into rs1298496593 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTGGTGGACG>-,GTGGTGGACGGTGGTGGACG
[Show Flanks]
- Chromosome:
- X:141503087
(GRCh38)
X:11
(GRCh37)
- Canonical SPDI:
- NC_000023.11:141503074:CGGTGGTGGACGGTGGTGGACG:CGGTGGTGGACG,NC_000023.11:141503074:CGGTGGTGGACGGTGGTGGACG:CGGTGGTGGACGGTGGTGGACGGTGGTGGACG
- Gene:
- SPANXA2-OT1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CGGTGGTGGACGGTGGTGGACGGTGGTGGACG=0./0
(
ALFA)
-=0.00104/5
(1000Genomes)
- HGVS:
16.
rs1459563028 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->ACCGG,ACGGCCTTCGGCGG,AGGGTGTTGAGCGG
[Show Flanks]
- Chromosome:
- X:141503084
(GRCh38)
X:140591079
(GRCh37)
- Canonical SPDI:
- NC_000023.11:141503084:CGG:CGGACCGG,NC_000023.11:141503084:CGG:CGGACGGCCTTCGGCGG,NC_000023.11:141503084:CGG:CGGAGGGTGTTGAGCGG
- Gene:
- SPANXA2-OT1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CGGAGGGTGTTGAGCGG=0./0
(
ALFA)
CGGAGGGTGTTGAG=0.00008/3
(GnomAD)
CGGAGGGTGTTGAG=0.00016/3
(TOMMO)
- HGVS:
NC_000023.11:g.141503087_141503088insACCGG, NC_000023.11:g.141503087_141503088insACGGCCTTCGGCGG, NC_000023.11:g.141503087_141503088insAGGGTGTTGAGCGG, NW_004070888.1:g.598890_598891insACCGG, NW_004070888.1:g.598890_598891insACGGCCTTCGGCGG, NW_004070888.1:g.598890_598891insAGGGTGTTGAGCGG, NC_000023.10:g.140591095_140591096insACCGG, NC_000023.10:g.140591082_140591095dup, NC_000023.10:g.140591095_140591096insAGGGTGTTGAGCGG, NR_037183.2:n.239_240insACCGG, NR_037183.2:n.239_240insACGGCCTTCGGCGG, NR_037183.2:n.239_240insAGGGTGTTGAGCGG, NR_037183.1:n.237_241dup, NR_037183.1:n.240_253dup, NR_037183.1:n.240_241insGGGTGTTGAGCGGA
17.
rs1455784261 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- X:141503198
(GRCh38)
X:140591207
(GRCh37)
- Canonical SPDI:
- NC_000023.11:141503197:C:G,NC_000023.11:141503197:C:T
- Gene:
- SPANXA2-OT1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.00066/7
(TOMMO)
T=0.0075/16
(KOREAN)
- HGVS:
18.
rs1455761315 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G,T
[Show Flanks]
- Chromosome:
- X:141502904
(GRCh38)
X:140590898
(GRCh37)
- Canonical SPDI:
- NC_000023.11:141502903:A:C,NC_000023.11:141502903:A:G,NC_000023.11:141502903:A:T
- Gene:
- SPANXA2-OT1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
T=0.000029/3
(GnomAD)
G=0.000921/2
(KOREAN)
- HGVS:
NC_000023.11:g.141502904A>C, NC_000023.11:g.141502904A>G, NC_000023.11:g.141502904A>T, NW_004070888.1:g.598707A>C, NW_004070888.1:g.598707A>G, NW_004070888.1:g.598707A>T, NC_000023.10:g.140590898A>C, NC_000023.10:g.140590898A>G, NC_000023.10:g.140590898A>T, NR_037183.2:n.56A>C, NR_037183.2:n.56A>G, NR_037183.2:n.56A>T, NR_037183.1:n.56A>C, NR_037183.1:n.56A>G, NR_037183.1:n.56A>T
19.
rs1454458341 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- X:141503206
(GRCh38)
X:140591215
(GRCh37)
- Canonical SPDI:
- NC_000023.11:141503205:T:G
- Gene:
- SPANXA2-OT1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.02293/354
(
ALFA)
T=0./0
(SGDP_PRJ)
G=0.00569/131
(GnomAD)
G=0.0068/71
(TOMMO)
G=0.06478/135
(KOREAN)
- HGVS:
20.
rs1453774991 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G,T
[Show Flanks]
- Chromosome:
- X:141502892
(GRCh38)
X:140590886
(GRCh37)
- Canonical SPDI:
- NC_000023.11:141502891:C:A,NC_000023.11:141502891:C:G,NC_000023.11:141502891:C:T
- Gene:
- SPANXA2-OT1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
NC_000023.11:g.141502892C>A, NC_000023.11:g.141502892C>G, NC_000023.11:g.141502892C>T, NW_004070888.1:g.598695C>A, NW_004070888.1:g.598695C>G, NW_004070888.1:g.598695C>T, NC_000023.10:g.140590886C>A, NC_000023.10:g.140590886C>G, NC_000023.10:g.140590886C>T, NR_037183.2:n.44C>A, NR_037183.2:n.44C>G, NR_037183.2:n.44C>T, NR_037183.1:n.44C>A, NR_037183.1:n.44C>G, NR_037183.1:n.44C>T