Links from Nucleotide
Items: 1 to 20 of 498
1.
rs1490559595 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:71904130
(GRCh38)
11:71615176
(GRCh37)
- Canonical SPDI:
- NC_000011.10:71904129:A:G
- Gene:
- XNDC1N (Varview), XNDC1N-ZNF705EP-ALG1L9P (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
G=0.000546/1
(Korea1K)
- HGVS:
3.
rs1489354468 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:71903555
(GRCh38)
11:71614601
(GRCh37)
- Canonical SPDI:
- NC_000011.10:71903554:C:T
- Gene:
- XNDC1N (Varview), XNDC1N-ZNF705EP-ALG1L9P (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000019/5
(TOPMED)
- HGVS:
4.
rs1488078016 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:71903539
(GRCh38)
11:71614585
(GRCh37)
- Canonical SPDI:
- NC_000011.10:71903538:G:A
- Gene:
- XNDC1N (Varview), XNDC1N-ZNF705EP-ALG1L9P (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.00025/3
(
ALFA)
A=0.00055/1
(Korea1K)
A=0.00125/8
(1000Genomes)
A=0.00304/51
(TOMMO)
A=0.00308/9
(KOREAN)
- HGVS:
5.
rs1486747751 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 11:71902939
(GRCh38)
11:71613985
(GRCh37)
- Canonical SPDI:
- NC_000011.10:71902938:A:C
- Gene:
- XNDC1N (Varview), XNDC1N-ZNF705EP-ALG1L9P (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
6.
rs1486437081 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 11:71902873
(GRCh38)
11:71613919
(GRCh37)
- Canonical SPDI:
- NC_000011.10:71902872:T:C
- Gene:
- XNDC1N (Varview), XNDC1N-ZNF705EP-ALG1L9P (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
7.
rs1485087063 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:71903227
(GRCh38)
11:71614273
(GRCh37)
- Canonical SPDI:
- NC_000011.10:71903226:C:T
- Gene:
- XNDC1N (Varview), XNDC1N-ZNF705EP-ALG1L9P (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000015/4
(TOPMED)
- HGVS:
8.
rs1482343575 has merged into rs367890404 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTT>-,T,TT,TTT,TTTTT
[Show Flanks]
- Chromosome:
- 11:71903646
(GRCh38)
11:71614692
(GRCh37)
- Canonical SPDI:
- NC_000011.10:71903639:TTTTTTTTTT:TTTTTT,NC_000011.10:71903639:TTTTTTTTTT:TTTTTTT,NC_000011.10:71903639:TTTTTTTTTT:TTTTTTTT,NC_000011.10:71903639:TTTTTTTTTT:TTTTTTTTT,NC_000011.10:71903639:TTTTTTTTTT:TTTTTTTTTTT
- Gene:
- XNDC1N (Varview), XNDC1N-ZNF705EP-ALG1L9P (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTT=0./0
(
ALFA)
-=0.005/3
(NorthernSweden)
- HGVS:
NC_000011.10:g.71903646_71903649del, NC_000011.10:g.71903647_71903649del, NC_000011.10:g.71903648_71903649del, NC_000011.10:g.71903649del, NC_000011.10:g.71903649dup, NC_000011.9:g.71614692_71614695del, NC_000011.9:g.71614693_71614695del, NC_000011.9:g.71614694_71614695del, NC_000011.9:g.71614695del, NC_000011.9:g.71614695dup, NG_002280.2:g.843_846del, NG_002280.2:g.844_846del, NG_002280.2:g.845_846del, NG_002280.2:g.846del, NG_002280.2:g.846dup
9.
rs1481641732 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C,T
[Show Flanks]
- Chromosome:
- 11:71903973
(GRCh38)
11:71615019
(GRCh37)
- Canonical SPDI:
- NC_000011.10:71903972:G:A,NC_000011.10:71903972:G:C,NC_000011.10:71903972:G:T
- Gene:
- XNDC1N (Varview), XNDC1N-ZNF705EP-ALG1L9P (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
A=0.000015/4
(TOPMED)
- HGVS:
10.
rs1480639956 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C,T
[Show Flanks]
- Chromosome:
- 11:71904207
(GRCh38)
11:71615253
(GRCh37)
- Canonical SPDI:
- NC_000011.10:71904206:G:A,NC_000011.10:71904206:G:C,NC_000011.10:71904206:G:T
- Gene:
- XNDC1N (Varview), XNDC1N-ZNF705EP-ALG1L9P (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
C=0.000035/1
(TOMMO)
- HGVS:
11.
rs1479968501 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- T>-
[Show Flanks]
- Chromosome:
- 11:71904034
(GRCh38)
11:71615080
(GRCh37)
- Canonical SPDI:
- NC_000011.10:71904033:T:
- Gene:
- XNDC1N (Varview), XNDC1N-ZNF705EP-ALG1L9P (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(GnomAD_exomes)
-=0.000004/1
(TOPMED)
- HGVS:
12.
rs1478884936 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:71904338
(GRCh38)
11:71615384
(GRCh37)
- Canonical SPDI:
- NC_000011.10:71904337:A:G
- Gene:
- XNDC1N (Varview), XNDC1N-ZNF705EP-ALG1L9P (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000011/3
(TOPMED)
- HGVS:
13.
rs1478732756 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:71903001
(GRCh38)
11:71614047
(GRCh37)
- Canonical SPDI:
- NC_000011.10:71903000:A:G
- Gene:
- XNDC1N (Varview), XNDC1N-ZNF705EP-ALG1L9P (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
15.
rs1477588643 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AATATC>-
[Show Flanks]
- Chromosome:
- 11:71904127
(GRCh38)
11:71615173
(GRCh37)
- Canonical SPDI:
- NC_000011.10:71904124:TCAATATC:TC
- Gene:
- XNDC1N (Varview), XNDC1N-ZNF705EP-ALG1L9P (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TC=0.000142/2
(
ALFA)
-=0.000023/6
(TOPMED)
- HGVS:
16.
rs1475499811 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:71903974
(GRCh38)
11:71615020
(GRCh37)
- Canonical SPDI:
- NC_000011.10:71903973:G:A
- Gene:
- XNDC1N (Varview), XNDC1N-ZNF705EP-ALG1L9P (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
18.
rs1472023176 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:71903552
(GRCh38)
11:71614598
(GRCh37)
- Canonical SPDI:
- NC_000011.10:71903551:C:T
- Gene:
- XNDC1N (Varview), XNDC1N-ZNF705EP-ALG1L9P (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000169/2
(
ALFA)
T=0.000072/10
(GnomAD)
T=0.001249/8
(1000Genomes)
T=0.002738/8
(KOREAN)
T=0.003043/51
(TOMMO)
- HGVS:
19.
rs1471436421 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 11:71903652
(GRCh38)
11:71614698
(GRCh37)
- Canonical SPDI:
- NC_000011.10:71903651:T:C,NC_000011.10:71903651:T:G
- Gene:
- XNDC1N (Varview), XNDC1N-ZNF705EP-ALG1L9P (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.00211/25
(
ALFA)
G=0.00004/0
(TOMMO)
C=0.03613/235
(GnomAD)
- HGVS:
20.
rs1467927284 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 11:71903466
(GRCh38)
11:71614512
(GRCh37)
- Canonical SPDI:
- NC_000011.10:71903465:C:G
- Gene:
- XNDC1N (Varview), XNDC1N-ZNF705EP-ALG1L9P (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000038/10
(TOPMED)
G=0.000064/9
(GnomAD)
- HGVS: