Links from Nucleotide
Items: 1 to 20 of 288
1.
rs1487055789 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- X:107981945
(GRCh38)
X:107225175
(GRCh37)
- Canonical SPDI:
- NC_000023.11:107981944:G:A
- Gene:
- TEX13B (Varview), LOC112267910 (Varview)
- Functional Consequence:
- intron_variant,coding_sequence_variant,synonymous_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000011/2
(GnomAD_exomes)
A=0.000034/9
(TOPMED)
- HGVS:
2.
rs1485227138 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- X:107982321
(GRCh38)
X:107225551
(GRCh37)
- Canonical SPDI:
- NC_000023.11:107982320:G:A
- Gene:
- TEX13B (Varview), LOC112267910 (Varview)
- Functional Consequence:
- intron_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.00001/1
(GnomAD)
- HGVS:
3.
rs1481947510 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GTTC>-
[Show Flanks]
- Chromosome:
- X:107980959
(GRCh38)
X:107224189
(GRCh37)
- Canonical SPDI:
- NC_000023.11:107980958:GTTC:
- Gene:
- TEX13B (Varview), LOC112267910 (Varview)
- Functional Consequence:
- intron_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
4.
rs1475995894 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- X:107980928
(GRCh38)
X:107224158
(GRCh37)
- Canonical SPDI:
- NC_000023.11:107980927:A:C
- Gene:
- TEX13B (Varview), LOC112267910 (Varview)
- Functional Consequence:
- intron_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
5.
rs1471037577 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- X:107981326
(GRCh38)
X:107224556
(GRCh37)
- Canonical SPDI:
- NC_000023.11:107981325:G:C
- Gene:
- TEX13B (Varview), LOC112267910 (Varview)
- Functional Consequence:
- synonymous_variant,intron_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.00001/1
(GnomAD)
- HGVS:
6.
rs1465957338 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- X:107981669
(GRCh38)
X:107224899
(GRCh37)
- Canonical SPDI:
- NC_000023.11:107981668:G:A
- Gene:
- TEX13B (Varview), LOC112267910 (Varview)
- Functional Consequence:
- synonymous_variant,intron_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
A=0.000006/1
(GnomAD_exomes)
- HGVS:
7.
rs1464916078 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- X:107982322
(GRCh38)
X:107225552
(GRCh37)
- Canonical SPDI:
- NC_000023.11:107982321:G:C
- Gene:
- TEX13B (Varview), LOC112267910 (Varview)
- Functional Consequence:
- intron_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000029/3
(GnomAD)
- HGVS:
8.
rs1464346013 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- X:107981748
(GRCh38)
X:107224978
(GRCh37)
- Canonical SPDI:
- NC_000023.11:107981747:A:G
- Gene:
- TEX13B (Varview), LOC112267910 (Varview)
- Functional Consequence:
- missense_variant,intron_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
G=0.000005/1
(GnomAD_exomes)
- HGVS:
9.
rs1462730038 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- X:107981941
(GRCh38)
X:107225171
(GRCh37)
- Canonical SPDI:
- NC_000023.11:107981940:C:T
- Gene:
- TEX13B (Varview), LOC112267910 (Varview)
- Functional Consequence:
- missense_variant,intron_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.00001/1
(GnomAD)
- HGVS:
10.
rs1462038188 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- X:107982147
(GRCh38)
X:107225377
(GRCh37)
- Canonical SPDI:
- NC_000023.11:107982146:G:A,NC_000023.11:107982146:G:C
- Gene:
- TEX13B (Varview), LOC112267910 (Varview)
- Functional Consequence:
- intron_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000044/1
(
ALFA)
A=0.000013/2
(GnomAD_exomes)
A=0.000019/2
(GnomAD)
A=0.00003/8
(TOPMED)
- HGVS:
11.
rs1453941019 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- X:107982090
(GRCh38)
X:107225320
(GRCh37)
- Canonical SPDI:
- NC_000023.11:107982089:C:T
- Gene:
- TEX13B (Varview), LOC112267910 (Varview)
- Functional Consequence:
- intron_variant,coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000019/2
(GnomAD)
- HGVS:
13.
rs1449265651 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- X:107982044
(GRCh38)
X:107225274
(GRCh37)
- Canonical SPDI:
- NC_000023.11:107982043:G:A
- Gene:
- TEX13B (Varview), LOC112267910 (Varview)
- Functional Consequence:
- intron_variant,coding_sequence_variant,synonymous_variant
- Validated:
- by frequency
- MAF:
A=0.000005/1
(GnomAD_exomes)
- HGVS:
14.
rs1443355218 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- X:107981262
(GRCh38)
X:107224492
(GRCh37)
- Canonical SPDI:
- NC_000023.11:107981261:G:A
- Gene:
- TEX13B (Varview), LOC112267910 (Varview)
- Functional Consequence:
- intron_variant,coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
16.
rs1437992262 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- X:107981424
(GRCh38)
X:107224654
(GRCh37)
- Canonical SPDI:
- NC_000023.11:107981423:C:T
- Gene:
- TEX13B (Varview), LOC112267910 (Varview)
- Functional Consequence:
- intron_variant,coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000005/1
(GnomAD_exomes)
- HGVS:
17.
rs1433011579 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- X:107981098
(GRCh38)
X:107224328
(GRCh37)
- Canonical SPDI:
- NC_000023.11:107981097:A:G
- Gene:
- TEX13B (Varview), LOC112267910 (Varview)
- Functional Consequence:
- synonymous_variant,intron_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
G=0.000005/1
(GnomAD_exomes)
- HGVS:
18.
rs1432098703 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- X:107981747
(GRCh38)
X:107224977
(GRCh37)
- Canonical SPDI:
- NC_000023.11:107981746:G:C
- Gene:
- TEX13B (Varview), LOC112267910 (Varview)
- Functional Consequence:
- missense_variant,intron_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
C=0.000005/1
(GnomAD_exomes)
- HGVS:
19.
rs1424770648 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- X:107981881
(GRCh38)
X:107225111
(GRCh37)
- Canonical SPDI:
- NC_000023.11:107981880:C:T
- Gene:
- TEX13B (Varview), LOC112267910 (Varview)
- Functional Consequence:
- missense_variant,intron_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
T=0.000005/1
(GnomAD_exomes)
- HGVS:
20.
rs1424586941 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- X:107981980
(GRCh38)
X:107225210
(GRCh37)
- Canonical SPDI:
- NC_000023.11:107981979:G:A
- Gene:
- TEX13B (Varview), LOC112267910 (Varview)
- Functional Consequence:
- missense_variant,intron_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
A=0.000005/1
(GnomAD_exomes)
- HGVS: