Links from Gene
Items: 1 to 20 of 1234
1.
rs1490428605 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 21:44573427
(GRCh38)
21:45993304
(GRCh37)
- Canonical SPDI:
- NC_000021.9:44573426:C:T
- Gene:
- TSPEAR (Varview), KRTAP10-4 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
2.
rs1490402694 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 21:44572639
(GRCh38)
21:45992522
(GRCh37)
- Canonical SPDI:
- NC_000021.9:44572638:A:G
- Gene:
- TSPEAR (Varview), KRTAP10-4 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000015/4
(TOPMED)
- HGVS:
4.
rs1489453952 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C,T
[Show Flanks]
- Chromosome:
- 21:44574339
(GRCh38)
21:45994216
(GRCh37)
- Canonical SPDI:
- NC_000021.9:44574338:G:C,NC_000021.9:44574338:G:T
- Gene:
- TSPEAR (Varview), KRTAP10-4 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
NC_000021.9:g.44574339G>C, NC_000021.9:g.44574339G>T, NW_004775435.1:g.77662G>C, NW_004775435.1:g.77662G>T, NG_033806.2:g.142233C>G, NG_033806.2:g.142233C>A, NG_033806.1:g.142240C>G, NG_033806.1:g.142240C>A, NC_000021.8:g.45994216G>C, NC_000021.8:g.45994216G>T, NM_198687.2:c.581G>C, NM_198687.2:c.581G>T, NM_198687.1:c.581G>C, NM_198687.1:c.581G>T, NP_941960.2:p.Ser194Thr, NP_941960.2:p.Ser194Ile
5.
rs1489090911 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 21:44573955
(GRCh38)
21:45993832
(GRCh37)
- Canonical SPDI:
- NC_000021.9:44573954:C:T
- Gene:
- TSPEAR (Varview), KRTAP10-4 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
T=0.000035/1
(TOMMO)
- HGVS:
6.
rs1488762143 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 21:44574232
(GRCh38)
21:45994109
(GRCh37)
- Canonical SPDI:
- NC_000021.9:44574231:C:T
- Gene:
- TSPEAR (Varview), KRTAP10-4 (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.001274/21
(TOMMO)
T=0.003427/10
(KOREAN)
- HGVS:
8.
rs1486254396 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 21:44573702
(GRCh38)
21:45993579
(GRCh37)
- Canonical SPDI:
- NC_000021.9:44573701:G:A
- Gene:
- TSPEAR (Varview), KRTAP10-4 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
G=0.5/1
(SGDP_PRJ)
- HGVS:
10.
rs1485886262 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 21:44575604
(GRCh38)
21:45995481
(GRCh37)
- Canonical SPDI:
- NC_000021.9:44575603:G:A
- Gene:
- TSPEAR (Varview), KRTAP10-4 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
11.
rs1484415386 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 21:44572111
(GRCh38)
21:45991994
(GRCh37)
- Canonical SPDI:
- NC_000021.9:44572110:T:C
- Gene:
- TSPEAR (Varview), KRTAP10-4 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
12.
rs1484295699 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 21:44574153
(GRCh38)
21:45994030
(GRCh37)
- Canonical SPDI:
- NC_000021.9:44574152:A:C,NC_000021.9:44574152:A:G
- Gene:
- TSPEAR (Varview), KRTAP10-4 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000032/4
(GnomAD)
C=0.000142/4
(TOMMO)
G=0.001638/3
(Korea1K)
- HGVS:
NC_000021.9:g.44574153A>C, NC_000021.9:g.44574153A>G, NW_004775435.1:g.77476A>C, NW_004775435.1:g.77476A>G, NG_033806.2:g.142419T>G, NG_033806.2:g.142419T>C, NG_033806.1:g.142426T>G, NG_033806.1:g.142426T>C, NC_000021.8:g.45994030A>C, NC_000021.8:g.45994030A>G, NM_198687.2:c.395A>C, NM_198687.2:c.395A>G, NM_198687.1:c.395A>C, NM_198687.1:c.395A>G, NP_941960.2:p.Asp132Ala, NP_941960.2:p.Asp132Gly
14.
rs1482446042 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AAG>-
[Show Flanks]
- Chromosome:
- 21:44572821
(GRCh38)
21:45992704
(GRCh37)
- Canonical SPDI:
- NC_000021.9:44572820:AAG:
- Gene:
- TSPEAR (Varview), KRTAP10-4 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000015/4
(TOPMED)
- HGVS:
15.
rs1482321827 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 21:44574853
(GRCh38)
21:45994730
(GRCh37)
- Canonical SPDI:
- NC_000021.9:44574852:C:A,NC_000021.9:44574852:C:T
- Gene:
- TSPEAR (Varview), KRTAP10-4 (Varview)
- Functional Consequence:
- synonymous_variant,stop_gained,coding_sequence_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.00003/1
(
ALFA)
T=0.000004/1
(GnomAD_exomes)
A=0.000008/2
(TOPMED)
- HGVS:
NC_000021.9:g.44574853C>A, NC_000021.9:g.44574853C>T, NW_004775435.1:g.78176C>A, NW_004775435.1:g.78176C>T, NG_033806.2:g.141719G>T, NG_033806.2:g.141719G>A, NG_033806.1:g.141726G>T, NG_033806.1:g.141726G>A, NC_000021.8:g.45994730C>A, NC_000021.8:g.45994730C>T, NM_198687.2:c.1095C>A, NM_198687.2:c.1095C>T, NM_198687.1:c.1095C>A, NM_198687.1:c.1095C>T, NP_941960.2:p.Cys365Ter
16.
rs1482109861 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 21:44572045
(GRCh38)
21:45991928
(GRCh37)
- Canonical SPDI:
- NC_000021.9:44572044:A:C,NC_000021.9:44572044:A:G
- Gene:
- TSPEAR (Varview), KRTAP10-4 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
C=0.001092/2
(Korea1K)
- HGVS:
17.
rs1480210614 has merged into rs71199612 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ACACACACACACACACACACACACACACACACACAC>-,AC,ACAC,ACACAC,ACACACAC,ACACACACAC,ACACACACACAC,ACACACACACACAC,ACACACACACACACAC,ACACACACACACACACAC,ACACACACACACACACACAC,ACACACACACACACACACACAC,ACACACACACACACACACACACAC,ACACACACACACACACACACACACAC,ACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACACACAC
[Show Flanks]
- Chromosome:
- 21:44572851
(GRCh38)
21:45992734
(GRCh37)
- Canonical SPDI:
- NC_000021.9:44572834:ACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACAC,NC_000021.9:44572834:ACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACAC,NC_000021.9:44572834:ACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACAC,NC_000021.9:44572834:ACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACAC,NC_000021.9:44572834:ACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACAC,NC_000021.9:44572834:ACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACAC,NC_000021.9:44572834:ACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACAC,NC_000021.9:44572834:ACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACAC,NC_000021.9:44572834:ACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACAC,NC_000021.9:44572834:ACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACAC,NC_000021.9:44572834:ACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACAC,NC_000021.9:44572834:ACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACAC,NC_000021.9:44572834:ACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACAC,NC_000021.9:44572834:ACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACAC,NC_000021.9:44572834:ACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACAC,NC_000021.9:44572834:ACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACAC,NC_000021.9:44572834:ACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000021.9:44572834:ACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000021.9:44572834:ACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000021.9:44572834:ACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000021.9:44572834:ACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000021.9:44572834:ACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000021.9:44572834:ACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000021.9:44572834:ACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000021.9:44572834:ACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000021.9:44572834:ACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC
- Gene:
- TSPEAR (Varview), KRTAP10-4 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACACACACACACACAC=0./0
(
ALFA)
ACACACACACACAC=0.000026/7
(TOPMED)
- HGVS:
NC_000021.9:g.44572835AC[8], NC_000021.9:g.44572835AC[9], NC_000021.9:g.44572835AC[10], NC_000021.9:g.44572835AC[11], NC_000021.9:g.44572835AC[12], NC_000021.9:g.44572835AC[13], NC_000021.9:g.44572835AC[14], NC_000021.9:g.44572835AC[15], NC_000021.9:g.44572835AC[16], NC_000021.9:g.44572835AC[17], NC_000021.9:g.44572835AC[18], NC_000021.9:g.44572835AC[19], NC_000021.9:g.44572835AC[20], NC_000021.9:g.44572835AC[21], NC_000021.9:g.44572835AC[22], NC_000021.9:g.44572835AC[23], NC_000021.9:g.44572835AC[24], NC_000021.9:g.44572835AC[25], NC_000021.9:g.44572835AC[27], NC_000021.9:g.44572835AC[28], NC_000021.9:g.44572835AC[29], NC_000021.9:g.44572835AC[30], NC_000021.9:g.44572835AC[31], NC_000021.9:g.44572835AC[32], NC_000021.9:g.44572835AC[33], NC_000021.9:g.44572835AC[34], NW_004775435.1:g.76158AC[8], NW_004775435.1:g.76158AC[9], NW_004775435.1:g.76158AC[10], NW_004775435.1:g.76158AC[11], NW_004775435.1:g.76158AC[12], NW_004775435.1:g.76158AC[13], NW_004775435.1:g.76158AC[14], NW_004775435.1:g.76158AC[15], NW_004775435.1:g.76158AC[16], NW_004775435.1:g.76158AC[17], NW_004775435.1:g.76158AC[18], NW_004775435.1:g.76158AC[19], NW_004775435.1:g.76158AC[20], NW_004775435.1:g.76158AC[21], NW_004775435.1:g.76158AC[22], NW_004775435.1:g.76158AC[23], NW_004775435.1:g.76158AC[24], NW_004775435.1:g.76158AC[25], NW_004775435.1:g.76158AC[27], NW_004775435.1:g.76158AC[28], NW_004775435.1:g.76158AC[29], NW_004775435.1:g.76158AC[30], NW_004775435.1:g.76158AC[31], NW_004775435.1:g.76158AC[32], NW_004775435.1:g.76158AC[33], NW_004775435.1:g.76158AC[34], NG_033806.2:g.143686GT[8], NG_033806.2:g.143686GT[9], NG_033806.2:g.143686GT[10], NG_033806.2:g.143686GT[11], NG_033806.2:g.143686GT[12], NG_033806.2:g.143686GT[13], NG_033806.2:g.143686GT[14], NG_033806.2:g.143686GT[15], NG_033806.2:g.143686GT[16], NG_033806.2:g.143686GT[17], NG_033806.2:g.143686GT[18], NG_033806.2:g.143686GT[19], NG_033806.2:g.143686GT[20], NG_033806.2:g.143686GT[21], NG_033806.2:g.143686GT[22], NG_033806.2:g.143686GT[23], NG_033806.2:g.143686GT[24], NG_033806.2:g.143686GT[25], NG_033806.2:g.143686GT[27], NG_033806.2:g.143686GT[28], NG_033806.2:g.143686GT[29], NG_033806.2:g.143686GT[30], NG_033806.2:g.143686GT[31], NG_033806.2:g.143686GT[32], NG_033806.2:g.143686GT[33], NG_033806.2:g.143686GT[34], NG_033806.1:g.143693GT[8], NG_033806.1:g.143693GT[9], NG_033806.1:g.143693GT[10], NG_033806.1:g.143693GT[11], NG_033806.1:g.143693GT[12], NG_033806.1:g.143693GT[13], NG_033806.1:g.143693GT[14], NG_033806.1:g.143693GT[15], NG_033806.1:g.143693GT[16], NG_033806.1:g.143693GT[17], NG_033806.1:g.143693GT[18], NG_033806.1:g.143693GT[19], NG_033806.1:g.143693GT[20], NG_033806.1:g.143693GT[21], NG_033806.1:g.143693GT[22], NG_033806.1:g.143693GT[23], NG_033806.1:g.143693GT[24], NG_033806.1:g.143693GT[25], NG_033806.1:g.143693GT[27], NG_033806.1:g.143693GT[28], NG_033806.1:g.143693GT[29], NG_033806.1:g.143693GT[30], NG_033806.1:g.143693GT[31], NG_033806.1:g.143693GT[32], NG_033806.1:g.143693GT[33], NG_033806.1:g.143693GT[34], NC_000021.8:g.45992718AC[26], NC_000021.8:g.45992718AC[8], NC_000021.8:g.45992718AC[9], NC_000021.8:g.45992718AC[10], NC_000021.8:g.45992718AC[11], NC_000021.8:g.45992718AC[12], NC_000021.8:g.45992718AC[13], NC_000021.8:g.45992718AC[14], NC_000021.8:g.45992718AC[15], NC_000021.8:g.45992718AC[16], NC_000021.8:g.45992718AC[17], NC_000021.8:g.45992718AC[18], NC_000021.8:g.45992718AC[19], NC_000021.8:g.45992718AC[20], NC_000021.8:g.45992718AC[21], NC_000021.8:g.45992718AC[22], NC_000021.8:g.45992718AC[24], NC_000021.8:g.45992718AC[25], NC_000021.8:g.45992718AC[27], NC_000021.8:g.45992718AC[28], NC_000021.8:g.45992718AC[29], NC_000021.8:g.45992718AC[30], NC_000021.8:g.45992718AC[31], NC_000021.8:g.45992718AC[32], NC_000021.8:g.45992718AC[33], NC_000021.8:g.45992718AC[34]
18.
rs1477364960 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 21:44574969
(GRCh38)
21:45994846
(GRCh37)
- Canonical SPDI:
- NC_000021.9:44574968:C:T
- Gene:
- TSPEAR (Varview), KRTAP10-4 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
19.
rs1477045042 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 21:44575349
(GRCh38)
21:45995226
(GRCh37)
- Canonical SPDI:
- NC_000021.9:44575348:CCC:CC
- Gene:
- TSPEAR (Varview), KRTAP10-4 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
CC=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
- HGVS:
20.
rs1476388821 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 21:44572627
(GRCh38)
21:45992510
(GRCh37)
- Canonical SPDI:
- NC_000021.9:44572626:C:T
- Gene:
- TSPEAR (Varview), KRTAP10-4 (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)
T=0.000071/1
(TOMMO)
- HGVS: