Links from Gene
Items: 1 to 20 of 853
1.
rs1490477283 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 21:44557718
(GRCh38)
21:45977601
(GRCh37)
- Canonical SPDI:
- NC_000021.9:44557717:A:G
- Gene:
- TSPEAR (Varview), KRTAP10-3 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000015/4
(TOPMED)
G=0.000021/3
(GnomAD)
- HGVS:
2.
rs1489045958 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 21:44559685
(GRCh38)
21:45979568
(GRCh37)
- Canonical SPDI:
- NC_000021.9:44559684:CC:C
- Gene:
- TSPEAR (Varview), KRTAP10-3 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CC=0./0
(
ALFA)
-=0.000036/5
(GnomAD)
-=0.000049/13
(TOPMED)
- HGVS:
3.
rs1488714861 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 21:44560238
(GRCh38)
21:45980121
(GRCh37)
- Canonical SPDI:
- NC_000021.9:44560237:G:A,NC_000021.9:44560237:G:T
- Gene:
- TSPEAR (Varview), KRTAP10-3 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
NC_000021.9:g.44560238G>A, NC_000021.9:g.44560238G>T, NW_004775435.1:g.63561G>A, NW_004775435.1:g.63561G>T, NG_033806.2:g.156334C>T, NG_033806.2:g.156334C>A, NG_033806.1:g.156341C>T, NG_033806.1:g.156341C>A, NG_050765.1:g.3523C>T, NG_050765.1:g.3523C>A, NC_000021.8:g.45980121G>A, NC_000021.8:g.45980121G>T
4.
rs1488645231 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 21:44559102
(GRCh38)
21:45978985
(GRCh37)
- Canonical SPDI:
- NC_000021.9:44559101:C:G
- Gene:
- TSPEAR (Varview), KRTAP10-3 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
5.
rs1488603773 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 21:44559764
(GRCh38)
21:45979647
(GRCh37)
- Canonical SPDI:
- NC_000021.9:44559763:A:T
- Gene:
- TSPEAR (Varview), KRTAP10-3 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
6.
rs1487374377 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 21:44560247
(GRCh38)
21:45980130
(GRCh37)
- Canonical SPDI:
- NC_000021.9:44560246:A:C,NC_000021.9:44560246:A:G
- Gene:
- TSPEAR (Varview), KRTAP10-3 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
C=0.000014/2
(GnomAD)
G=0.000035/1
(TOMMO)
- HGVS:
NC_000021.9:g.44560247A>C, NC_000021.9:g.44560247A>G, NW_004775435.1:g.63570A>C, NW_004775435.1:g.63570A>G, NG_033806.2:g.156325T>G, NG_033806.2:g.156325T>C, NG_033806.1:g.156332T>G, NG_033806.1:g.156332T>C, NG_050765.1:g.3514T>G, NG_050765.1:g.3514T>C, NC_000021.8:g.45980130A>C, NC_000021.8:g.45980130A>G
7.
rs1486737821 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 21:44557644
(GRCh38)
21:45977527
(GRCh37)
- Canonical SPDI:
- NC_000021.9:44557643:C:A,NC_000021.9:44557643:C:T
- Gene:
- TSPEAR (Varview), KRTAP10-3 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.00004/1
(TOMMO)
T=0.00016/1
(1000Genomes)
- HGVS:
NC_000021.9:g.44557644C>A, NC_000021.9:g.44557644C>T, NW_004775435.1:g.60967C>A, NW_004775435.1:g.60967C>T, NG_033806.2:g.158928G>T, NG_033806.2:g.158928G>A, NG_033806.1:g.158935G>T, NG_033806.1:g.158935G>A, NG_050765.1:g.6117G>T, NG_050765.1:g.6117G>A, NC_000021.8:g.45977527C>A, NC_000021.8:g.45977527C>T
8.
rs1484529456 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 21:44558983
(GRCh38)
21:45978866
(GRCh37)
- Canonical SPDI:
- NC_000021.9:44558982:G:A
- Gene:
- TSPEAR (Varview), KRTAP10-3 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
9.
rs1484270969 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 21:44560106
(GRCh38)
21:45979989
(GRCh37)
- Canonical SPDI:
- NC_000021.9:44560105:C:A,NC_000021.9:44560105:C:T
- Gene:
- TSPEAR (Varview), KRTAP10-3 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
- HGVS:
NC_000021.9:g.44560106C>A, NC_000021.9:g.44560106C>T, NW_004775435.1:g.63429C>A, NW_004775435.1:g.63429C>T, NG_033806.2:g.156466G>T, NG_033806.2:g.156466G>A, NG_033806.1:g.156473G>T, NG_033806.1:g.156473G>A, NG_050765.1:g.3655G>T, NG_050765.1:g.3655G>A, NC_000021.8:g.45979989C>A, NC_000021.8:g.45979989C>T
10.
rs1482571503 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 21:44559970
(GRCh38)
21:45979853
(GRCh37)
- Canonical SPDI:
- NC_000021.9:44559969:C:T
- Gene:
- TSPEAR (Varview), KRTAP10-3 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000043/6
(GnomAD)
T=0.000045/12
(TOPMED)
- HGVS:
11.
rs1482457159 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 21:44557729
(GRCh38)
21:45977612
(GRCh37)
- Canonical SPDI:
- NC_000021.9:44557728:C:T
- Gene:
- TSPEAR (Varview), KRTAP10-3 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
12.
rs1482031877 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 21:44557790
(GRCh38)
21:45977673
(GRCh37)
- Canonical SPDI:
- NC_000021.9:44557789:G:A
- Gene:
- TSPEAR (Varview), KRTAP10-3 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000026/7
(TOPMED)
A=0.000029/4
(GnomAD)
- HGVS:
13.
rs1480660203 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G
[Show Flanks]
- Chromosome:
- 21:44557766
(GRCh38)
21:45977649
(GRCh37)
- Canonical SPDI:
- NC_000021.9:44557765:C:A,NC_000021.9:44557765:C:G
- Gene:
- TSPEAR (Varview), KRTAP10-3 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000029/4
(GnomAD)
- HGVS:
NC_000021.9:g.44557766C>A, NC_000021.9:g.44557766C>G, NW_004775435.1:g.61089C>A, NW_004775435.1:g.61089C>G, NG_033806.2:g.158806G>T, NG_033806.2:g.158806G>C, NG_033806.1:g.158813G>T, NG_033806.1:g.158813G>C, NG_050765.1:g.5995G>T, NG_050765.1:g.5995G>C, NC_000021.8:g.45977649C>A, NC_000021.8:g.45977649C>G
14.
rs1480437445 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 21:44558563
(GRCh38)
21:45978446
(GRCh37)
- Canonical SPDI:
- NC_000021.9:44558562:G:A
- Gene:
- TSPEAR (Varview), KRTAP10-3 (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(GnomAD_exomes)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
15.
rs1480142595 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 21:44558849
(GRCh38)
21:45978732
(GRCh37)
- Canonical SPDI:
- NC_000021.9:44558848:G:T
- Gene:
- TSPEAR (Varview), KRTAP10-3 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
16.
rs1478505388 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 21:44559751
(GRCh38)
21:45979634
(GRCh37)
- Canonical SPDI:
- NC_000021.9:44559750:C:T
- Gene:
- TSPEAR (Varview), KRTAP10-3 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
17.
rs1478470827 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 21:44559242
(GRCh38)
21:45979125
(GRCh37)
- Canonical SPDI:
- NC_000021.9:44559241:C:T
- Gene:
- TSPEAR (Varview), KRTAP10-3 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
18.
rs1478175730 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 21:44560349
(GRCh38)
21:45980232
(GRCh37)
- Canonical SPDI:
- NC_000021.9:44560348:C:T
- Gene:
- TSPEAR (Varview), KRTAP10-3 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
19.
rs1476803743 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 21:44559653
(GRCh38)
21:45979536
(GRCh37)
- Canonical SPDI:
- NC_000021.9:44559652:GGG:GG
- Gene:
- TSPEAR (Varview), KRTAP10-3 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
GG=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
20.
rs1473186929 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 21:44557535
(GRCh38)
21:45977418
(GRCh37)
- Canonical SPDI:
- NC_000021.9:44557534:C:G,NC_000021.9:44557534:C:T
- Gene:
- TSPEAR (Varview), KRTAP10-3 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000034/9
(TOPMED)
- HGVS:
NC_000021.9:g.44557535C>G, NC_000021.9:g.44557535C>T, NW_004775435.1:g.60858C>G, NW_004775435.1:g.60858C>T, NG_033806.2:g.159037G>C, NG_033806.2:g.159037G>A, NG_033806.1:g.159044G>C, NG_033806.1:g.159044G>A, NG_050765.1:g.6226G>C, NG_050765.1:g.6226G>A, NC_000021.8:g.45977418C>G, NC_000021.8:g.45977418C>T