Links from Gene
Items: 1 to 20 of 762
1.
rs1489478916 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- X:107982935
(GRCh38)
X:107226165
(GRCh37)
- Canonical SPDI:
- NC_000023.11:107982934:T:A
- Gene:
- TEX13B (Varview), LOC112267910 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000064/17
(TOPMED)
A=0.000208/1
(1000Genomes)
- HGVS:
2.
rs1488500932 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- X:107983502
(GRCh38)
X:107226732
(GRCh37)
- Canonical SPDI:
- NC_000023.11:107983501:G:A
- Gene:
- TEX13B (Varview), LOC112267910 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.00001/1
(GnomAD)
A=0.000026/7
(TOPMED)
- HGVS:
4.
rs1487522180 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- X:107984154
(GRCh38)
X:107227384
(GRCh37)
- Canonical SPDI:
- NC_000023.11:107984153:T:C
- Gene:
- TEX13B (Varview), LOC112267910 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000038/4
(GnomAD)
C=0.000057/15
(TOPMED)
- HGVS:
6.
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:
7.
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:
8.
rs1483897260 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AGA>-
[Show Flanks]
- Chromosome:
- X:107983087
(GRCh38)
X:107226317
(GRCh37)
- Canonical SPDI:
- NC_000023.11:107983083:AGAAGA:AGA
- Gene:
- TEX13B (Varview), LOC112267910 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
AGAAGA=0./0
(
ALFA)
-=0.00001/1
(GnomAD)
- HGVS:
9.
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:
10.
rs1479262938 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- X:107982275
(GRCh38)
X:107225505
(GRCh37)
- Canonical SPDI:
- NC_000023.11:107982274:T:C
- Gene:
- TEX13B (Varview), LOC112267910 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.00001/1
(GnomAD)
- HGVS:
12.
rs1478246658 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- X:107983622
(GRCh38)
X:107226852
(GRCh37)
- Canonical SPDI:
- NC_000023.11:107983621:T:C
- Gene:
- TEX13B (Varview), LOC112267910 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
14.
rs1477737539 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- X:107982922
(GRCh38)
X:107226152
(GRCh37)
- Canonical SPDI:
- NC_000023.11:107982921:G:A
- Gene:
- TEX13B (Varview), LOC112267910 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency
- MAF:
A=0.00001/1
(GnomAD)
- HGVS:
15.
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:
16.
rs1472347912 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- X:107983779
(GRCh38)
X:107227009
(GRCh37)
- Canonical SPDI:
- NC_000023.11:107983778:A:G
- Gene:
- TEX13B (Varview), LOC112267910 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
17.
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:
18.
rs1470174362 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- X:107980722
(GRCh38)
X:107223952
(GRCh37)
- Canonical SPDI:
- NC_000023.11:107980721:C:T
- Gene:
- TEX13B (Varview), LOC112267910 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000022/2
(GnomAD)
T=0.000046/1
(TOMMO)
T=0.000049/13
(TOPMED)
- HGVS:
19.
rs1468649054 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- X:107983568
(GRCh38)
X:107226798
(GRCh37)
- Canonical SPDI:
- NC_000023.11:107983567:G:A
- Gene:
- TEX13B (Varview), LOC112267910 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000019/2
(GnomAD)
A=0.000023/6
(TOPMED)
- HGVS: