Links from Nucleotide
Items: 1 to 20 of 1895
1.
rs1491500190 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- X:140509454
(GRCh38)
X:139591619
(GRCh37)
- Canonical SPDI:
- NC_000023.11:140509453:TA:
- Validated:
- by frequency,by alfa
- MAF:
-=0.00008/1
(
ALFA)
-=0.00007/1
(GnomAD)
- HGVS:
2.
rs1491424353 has merged into rs58932342 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA
[Show Flanks]
- Chromosome:
- X:140509469
(GRCh38)
X:139591634
(GRCh37)
- Canonical SPDI:
- NC_000023.11:140509454:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000023.11:140509454:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000023.11:140509454:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000023.11:140509454:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000023.11:140509454:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000023.11:140509454:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000023.11:140509454:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000023.11:140509454:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:140509454:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:140509454:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAAAAAAA=0./0
(
ALFA)
AA=0.0784/296
(1000Genomes)
- HGVS:
NC_000023.11:g.140509469_140509473del, NC_000023.11:g.140509470_140509473del, NC_000023.11:g.140509471_140509473del, NC_000023.11:g.140509472_140509473del, NC_000023.11:g.140509473del, NC_000023.11:g.140509473dup, NC_000023.11:g.140509472_140509473dup, NC_000023.11:g.140509471_140509473dup, NC_000023.11:g.140509470_140509473dup, NC_000023.11:g.140509469_140509473dup, NC_000023.10:g.139591634_139591638del, NC_000023.10:g.139591635_139591638del, NC_000023.10:g.139591636_139591638del, NC_000023.10:g.139591637_139591638del, NC_000023.10:g.139591638del, NC_000023.10:g.139591638dup, NC_000023.10:g.139591637_139591638dup, NC_000023.10:g.139591636_139591638dup, NC_000023.10:g.139591635_139591638dup, NC_000023.10:g.139591634_139591638dup, NG_009387.1:g.602_606del, NG_009387.1:g.603_606del, NG_009387.1:g.604_606del, NG_009387.1:g.605_606del, NG_009387.1:g.606del, NG_009387.1:g.606dup, NG_009387.1:g.605_606dup, NG_009387.1:g.604_606dup, NG_009387.1:g.603_606dup, NG_009387.1:g.602_606dup
3.
rs1491355951 has merged into rs1167026303 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CGCGCGCGCGCG>-,CG,CGCG,CGCGCG,CGCGCGCG,CGCGCGCGCG,CGCGCGCGCGCGCG,CGCGCGCGCGCGCGCG,CGCGCGCGCGCGCGCGCG,CGCGCGCGCGCGCGCGCGCGCGCG
[Show Flanks]
- Chromosome:
- X:140506988
(GRCh38)
X:139589153
(GRCh37)
- Canonical SPDI:
- NC_000023.11:140506978:GCGCGCGCGCGCGCGCGCGCG:GCGCGCGCG,NC_000023.11:140506978:GCGCGCGCGCGCGCGCGCGCG:GCGCGCGCGCG,NC_000023.11:140506978:GCGCGCGCGCGCGCGCGCGCG:GCGCGCGCGCGCG,NC_000023.11:140506978:GCGCGCGCGCGCGCGCGCGCG:GCGCGCGCGCGCGCG,NC_000023.11:140506978:GCGCGCGCGCGCGCGCGCGCG:GCGCGCGCGCGCGCGCG,NC_000023.11:140506978:GCGCGCGCGCGCGCGCGCGCG:GCGCGCGCGCGCGCGCGCG,NC_000023.11:140506978:GCGCGCGCGCGCGCGCGCGCG:GCGCGCGCGCGCGCGCGCGCGCG,NC_000023.11:140506978:GCGCGCGCGCGCGCGCGCGCG:GCGCGCGCGCGCGCGCGCGCGCGCG,NC_000023.11:140506978:GCGCGCGCGCGCGCGCGCGCG:GCGCGCGCGCGCGCGCGCGCGCGCGCG,NC_000023.11:140506978:GCGCGCGCGCGCGCGCGCGCG:GCGCGCGCGCGCGCGCGCGCGCGCGCGCGCGCG
- Gene:
- SOX3 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GCGCGCGCGCGCG=0./0
(
ALFA)
-=0.05227/151
(ALSPAC)
-=0.06446/239
(TWINSUK)
-=0.1/4
(GENOME_DK)
- HGVS:
NC_000023.11:g.140506980CG[4], NC_000023.11:g.140506980CG[5], NC_000023.11:g.140506980CG[6], NC_000023.11:g.140506980CG[7], NC_000023.11:g.140506980CG[8], NC_000023.11:g.140506980CG[9], NC_000023.11:g.140506980CG[11], NC_000023.11:g.140506980CG[12], NC_000023.11:g.140506980CG[13], NC_000023.11:g.140506980CG[16], NC_000023.10:g.139589145CG[4], NC_000023.10:g.139589145CG[5], NC_000023.10:g.139589145CG[6], NC_000023.10:g.139589145CG[7], NC_000023.10:g.139589145CG[8], NC_000023.10:g.139589145CG[9], NC_000023.10:g.139589145CG[11], NC_000023.10:g.139589145CG[12], NC_000023.10:g.139589145CG[13], NC_000023.10:g.139589145CG[16], NG_009387.1:g.3063GC[4], NG_009387.1:g.3063GC[5], NG_009387.1:g.3063GC[6], NG_009387.1:g.3063GC[7], NG_009387.1:g.3063GC[8], NG_009387.1:g.3063GC[9], NG_009387.1:g.3063GC[11], NG_009387.1:g.3063GC[12], NG_009387.1:g.3063GC[13], NG_009387.1:g.3063GC[16]
4.
rs1490914908 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- X:140506775
(GRCh38)
X:139588940
(GRCh37)
- Canonical SPDI:
- NC_000023.11:140506774:A:G
- Gene:
- SOX3 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency
- MAF:
G=0.00001/1
(GnomAD)
- HGVS:
6.
rs1490096377 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- X:140508108
(GRCh38)
X:139590273
(GRCh37)
- Canonical SPDI:
- NC_000023.11:140508107:C:A
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.00001/1
(GnomAD)
- HGVS:
7.
rs1489668203 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- X:140503658
(GRCh38)
X:139585823
(GRCh37)
- Canonical SPDI:
- NC_000023.11:140503657:G:A
- Gene:
- SOX3 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000084/1
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.00002/2
(GnomAD)
- HGVS:
8.
rs1489498985 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- X:140503655
(GRCh38)
X:139585820
(GRCh37)
- Canonical SPDI:
- NC_000023.11:140503654:T:G
- Gene:
- SOX3 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.03132/88
(KOREAN)
- HGVS:
9.
rs1489037741 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- X:140502471
(GRCh38)
X:139584636
(GRCh37)
- Canonical SPDI:
- NC_000023.11:140502470:G:C
- Validated:
- by frequency,by alfa
- MAF:
C=0.00033/5
(
ALFA)
C=0.000048/5
(GnomAD)
- HGVS:
10.
rs1488994051 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- X:140505915
(GRCh38)
X:139588080
(GRCh37)
- Canonical SPDI:
- NC_000023.11:140505914:C:G
- Gene:
- SOX3 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.00001/1
(GnomAD)
- HGVS:
11.
rs1488944914 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- X:140506956
(GRCh38)
X:139589121
(GRCh37)
- Canonical SPDI:
- NC_000023.11:140506955:T:C
- Gene:
- SOX3 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
12.
rs1488829299 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- X:140509747
(GRCh38)
X:139591912
(GRCh37)
- Canonical SPDI:
- NC_000023.11:140509746:G:A,NC_000023.11:140509746:G:T
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.00001/1
(GnomAD)
- HGVS:
13.
rs1488090611 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- X:140502055
(GRCh38)
X:139584220
(GRCh37)
- Canonical SPDI:
- NC_000023.11:140502054:A:G
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.00001/1
(GnomAD)
- HGVS:
14.
rs1487642661 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- X:140503620
(GRCh38)
X:139585785
(GRCh37)
- Canonical SPDI:
- NC_000023.11:140503619:CCC:CC
- Gene:
- SOX3 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
CC=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
15.
rs1486852538 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- X:140508941
(GRCh38)
X:139591106
(GRCh37)
- Canonical SPDI:
- NC_000023.11:140508940:T:C
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.00002/1
(GnomAD)
- HGVS:
16.
rs1486781440 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- X:140509073
(GRCh38)
X:139591238
(GRCh37)
- Canonical SPDI:
- NC_000023.11:140509072:G:C
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.00001/1
(GnomAD)
- HGVS:
17.
rs1486746717 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- X:140509768
(GRCh38)
X:139591933
(GRCh37)
- Canonical SPDI:
- NC_000023.11:140509767:G:A
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.00001/1
(GnomAD)
A=0.000011/3
(TOPMED)
- HGVS:
19.
rs1486563564 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- X:140506027
(GRCh38)
X:139588192
(GRCh37)
- Canonical SPDI:
- NC_000023.11:140506026:G:A
- Gene:
- SOX3 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000198/3
(
ALFA)
A=0.000019/2
(GnomAD)
- HGVS:
20.
rs1486357022 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- X:140504894
(GRCh38)
X:139587059
(GRCh37)
- Canonical SPDI:
- NC_000023.11:140504893:G:A
- Gene:
- SOX3 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency
- MAF:
A=0.000008/1
(GnomAD_exomes)
- HGVS: