Links from Gene
Items: 1 to 20 of 5893
1.
rs1491385044 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 8:27251286
(GRCh38)
8:27108803
(GRCh37)
- Canonical SPDI:
- NC_000008.11:27251285:GT:
- Gene:
- STMN4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.00002/2
(GnomAD)
-=0.000035/1
(TOMMO)
- HGVS:
2.
rs1491215901 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 8:27259483
(GRCh38)
8:27117001
(GRCh37)
- Canonical SPDI:
- NC_000008.11:27259483:T:TT
- Gene:
- STMN4 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
TT=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
3.
rs1491059771 has merged into rs150260843 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAA>-,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 8:27247264
(GRCh38)
8:27104781
(GRCh37)
- Canonical SPDI:
- NC_000008.11:27247254:AAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000008.11:27247254:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000008.11:27247254:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000008.11:27247254:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000008.11:27247254:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000008.11:27247254:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000008.11:27247254:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000008.11:27247254:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000008.11:27247254:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000008.11:27247254:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000008.11:27247254:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:27247254:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:27247254:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:27247254:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- STMN4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAA=0./0
(
ALFA)
- HGVS:
NC_000008.11:g.27247264_27247273del, NC_000008.11:g.27247266_27247273del, NC_000008.11:g.27247268_27247273del, NC_000008.11:g.27247269_27247273del, NC_000008.11:g.27247270_27247273del, NC_000008.11:g.27247271_27247273del, NC_000008.11:g.27247272_27247273del, NC_000008.11:g.27247273del, NC_000008.11:g.27247273dup, NC_000008.11:g.27247272_27247273dup, NC_000008.11:g.27247271_27247273dup, NC_000008.11:g.27247270_27247273dup, NC_000008.11:g.27247269_27247273dup, NC_000008.11:g.27247268_27247273dup, NC_000008.10:g.27104781_27104790del, NC_000008.10:g.27104783_27104790del, NC_000008.10:g.27104785_27104790del, NC_000008.10:g.27104786_27104790del, NC_000008.10:g.27104787_27104790del, NC_000008.10:g.27104788_27104790del, NC_000008.10:g.27104789_27104790del, NC_000008.10:g.27104790del, NC_000008.10:g.27104790dup, NC_000008.10:g.27104789_27104790dup, NC_000008.10:g.27104788_27104790dup, NC_000008.10:g.27104787_27104790dup, NC_000008.10:g.27104786_27104790dup, NC_000008.10:g.27104785_27104790dup
4.
rs1490969317 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 8:27248276
(GRCh38)
8:27105793
(GRCh37)
- Canonical SPDI:
- NC_000008.11:27248275:T:C
- Gene:
- STMN4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
5.
rs1490750590 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 8:27240321
(GRCh38)
8:27097838
(GRCh37)
- Canonical SPDI:
- NC_000008.11:27240320:C:T
- Gene:
- STMN4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
6.
rs1490736885 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 8:27238330
(GRCh38)
8:27095847
(GRCh37)
- Canonical SPDI:
- NC_000008.11:27238329:C:T
- Gene:
- STMN4 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
7.
rs1490605462 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 8:27255860
(GRCh38)
8:27113377
(GRCh37)
- Canonical SPDI:
- NC_000008.11:27255859:C:T
- Gene:
- STMN4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
8.
rs1490601580 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 8:27235331
(GRCh38)
8:27092848
(GRCh37)
- Canonical SPDI:
- NC_000008.11:27235330:T:C
- Gene:
- STMN4 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
NC_000008.11:g.27235331T>C, NC_000008.10:g.27092848T>C, NM_030795.4:c.*1515A>G, NM_030795.3:c.*1515A>G, NM_001283053.2:c.*1608A>G, NM_001283053.1:c.*1608A>G, NM_001283054.2:c.*1515A>G, NM_001283054.1:c.*1515A>G, NM_001283055.2:c.*1608A>G, NM_001283055.1:c.*1608A>G, NM_001394387.1:c.*1608A>G, NM_001394385.1:c.*1608A>G, NM_001394388.1:c.*1608A>G, NM_001394383.1:c.*1515A>G, NM_001394384.1:c.*1515A>G, NM_001394386.1:c.*1515A>G
9.
rs1490587487 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 8:27240802
(GRCh38)
8:27098320
(GRCh37)
- Canonical SPDI:
- NC_000008.11:27240802:T:TT
- Gene:
- STMN4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TT=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
11.
rs1490301714 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 8:27237129
(GRCh38)
8:27094646
(GRCh37)
- Canonical SPDI:
- NC_000008.11:27237128:G:A,NC_000008.11:27237128:G:T
- Gene:
- STMN4 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000021/3
(GnomAD)
- HGVS:
12.
rs1489992476 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 8:27249206
(GRCh38)
8:27106723
(GRCh37)
- Canonical SPDI:
- NC_000008.11:27249205:C:A,NC_000008.11:27249205:C:T
- Gene:
- STMN4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.00007/1
(TOMMO)
- HGVS:
13.
rs1489777458 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 8:27256339
(GRCh38)
8:27113856
(GRCh37)
- Canonical SPDI:
- NC_000008.11:27256338:G:A
- Gene:
- STMN4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000021/3
(GnomAD)
- HGVS:
14.
rs1489693283 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 8:27246424
(GRCh38)
8:27103941
(GRCh37)
- Canonical SPDI:
- NC_000008.11:27246423:C:T
- Gene:
- STMN4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
15.
rs1489595130 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 8:27257723
(GRCh38)
8:27115240
(GRCh37)
- Canonical SPDI:
- NC_000008.11:27257722:G:A
- Gene:
- STMN4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
16.
rs1489573954 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 8:27236849
(GRCh38)
8:27094366
(GRCh37)
- Canonical SPDI:
- NC_000008.11:27236848:C:T
- Gene:
- STMN4 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,3_prime_UTR_variant
- Validated:
- by frequency
- MAF:
T=0.000004/1
(GnomAD_exomes)
- HGVS:
NC_000008.11:g.27236849C>T, NC_000008.10:g.27094366C>T, NM_030795.4:c.648G>A, NM_030795.3:c.648G>A, NM_030795.2:c.648G>A, NM_001283053.2:c.*90G>A, NM_001283053.1:c.*90G>A, NM_001283054.2:c.567G>A, NM_001283054.1:c.567G>A, NM_001283055.2:c.*90G>A, NM_001283055.1:c.*90G>A, NM_001394387.1:c.*90G>A, NM_001394385.1:c.*90G>A, NM_001394388.1:c.*90G>A, NM_001394383.1:c.564G>A, NM_001394384.1:c.540G>A, NM_001394386.1:c.471G>A
17.
rs1489543854 has merged into rs59516183 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CACACACACACACACACACACACACACACA>-,CACA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACA
[Show Flanks]
- Chromosome:
- 8:27257473
(GRCh38)
8:27114990
(GRCh37)
- Canonical SPDI:
- NC_000008.11:27257459:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACA,NC_000008.11:27257459:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACA,NC_000008.11:27257459:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACA,NC_000008.11:27257459:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACA,NC_000008.11:27257459:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000008.11:27257459:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000008.11:27257459:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000008.11:27257459:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000008.11:27257459:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA,NC_000008.11:27257459:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA,NC_000008.11:27257459:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA,NC_000008.11:27257459:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACA,NC_000008.11:27257459:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACA,NC_000008.11:27257459:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACA,NC_000008.11:27257459:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACA,NC_000008.11:27257459:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACA,NC_000008.11:27257459:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000008.11:27257459:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000008.11:27257459:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000008.11:27257459:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000008.11:27257459:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000008.11:27257459:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA
- Gene:
- STMN4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACACACACACACACACA=0./0
(
ALFA)
ACACACACACAC=0.5/20
(GENOME_DK)
- HGVS:
NC_000008.11:g.27257461CA[6], NC_000008.11:g.27257461CA[8], NC_000008.11:g.27257461CA[9], NC_000008.11:g.27257461CA[10], NC_000008.11:g.27257461CA[11], NC_000008.11:g.27257461CA[12], NC_000008.11:g.27257461CA[13], NC_000008.11:g.27257461CA[14], NC_000008.11:g.27257461CA[15], NC_000008.11:g.27257461CA[16], NC_000008.11:g.27257461CA[17], NC_000008.11:g.27257461CA[18], NC_000008.11:g.27257461CA[19], NC_000008.11:g.27257461CA[20], NC_000008.11:g.27257461CA[22], NC_000008.11:g.27257461CA[23], NC_000008.11:g.27257461CA[24], NC_000008.11:g.27257461CA[25], NC_000008.11:g.27257461CA[26], NC_000008.11:g.27257461CA[27], NC_000008.11:g.27257461CA[28], NC_000008.11:g.27257461CA[29], NC_000008.10:g.27114978CA[6], NC_000008.10:g.27114978CA[8], NC_000008.10:g.27114978CA[9], NC_000008.10:g.27114978CA[10], NC_000008.10:g.27114978CA[11], NC_000008.10:g.27114978CA[12], NC_000008.10:g.27114978CA[13], NC_000008.10:g.27114978CA[14], NC_000008.10:g.27114978CA[15], NC_000008.10:g.27114978CA[16], NC_000008.10:g.27114978CA[17], NC_000008.10:g.27114978CA[18], NC_000008.10:g.27114978CA[19], NC_000008.10:g.27114978CA[20], NC_000008.10:g.27114978CA[22], NC_000008.10:g.27114978CA[23], NC_000008.10:g.27114978CA[24], NC_000008.10:g.27114978CA[25], NC_000008.10:g.27114978CA[26], NC_000008.10:g.27114978CA[27], NC_000008.10:g.27114978CA[28], NC_000008.10:g.27114978CA[29]
18.
rs1489403243 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAA>-
[Show Flanks]
- Chromosome:
- 8:27243408
(GRCh38)
8:27100925
(GRCh37)
- Canonical SPDI:
- NC_000008.11:27243405:AAAAA:AA
- Gene:
- STMN4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
AA=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
19.
rs1489340349 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 8:27247035
(GRCh38)
8:27104552
(GRCh37)
- Canonical SPDI:
- NC_000008.11:27247034:C:G,NC_000008.11:27247034:C:T
- Gene:
- STMN4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
20.
rs1489280306 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 8:27254073
(GRCh38)
8:27111590
(GRCh37)
- Canonical SPDI:
- NC_000008.11:27254072:G:A,NC_000008.11:27254072:G:C
- Gene:
- STMN4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
A=0.003333/2
(NorthernSweden)
- HGVS: