Links from Gene
Items: 1 to 20 of 17600
1.
rs1491534960 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 9:127659307
(GRCh38)
9:130421586
(GRCh37)
- Canonical SPDI:
- NC_000009.12:127659305:TGT:T
- Gene:
- STXBP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000253/3
(
ALFA)
-=0.000276/34
(GnomAD)
-=0.061754/238
(ALSPAC)
-=0.064455/239
(TWINSUK)
- HGVS:
2.
rs1491425898 has merged into rs71495654 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATATATATATATATATATATATATATATATATATATATATATAT>-,ATATAT,ATATATAT,ATATATATAT,ATATATATATAT,ATATATATATATAT,ATATATATATATATAT,ATATATATATATATATAT,ATATATATATATATATATAT,ATATATATATATATATATATAT,ATATATATATATATATATATATAT,ATATATATATATATATATATATATAT,ATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT
[Show Flanks]
- Chromosome:
- 9:127624058
(GRCh38)
9:130386337
(GRCh37)
- Canonical SPDI:
- NC_000009.12:127624053:ATATATATATATATATATATATATATATATATATATATATATATATAT:ATAT,NC_000009.12:127624053:ATATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATAT,NC_000009.12:127624053:ATATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATAT,NC_000009.12:127624053:ATATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATAT,NC_000009.12:127624053:ATATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATAT,NC_000009.12:127624053:ATATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATAT,NC_000009.12:127624053:ATATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATAT,NC_000009.12:127624053:ATATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATAT,NC_000009.12:127624053:ATATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATAT,NC_000009.12:127624053:ATATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATAT,NC_000009.12:127624053:ATATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATAT,NC_000009.12:127624053:ATATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATAT,NC_000009.12:127624053:ATATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATAT,NC_000009.12:127624053:ATATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATAT,NC_000009.12:127624053:ATATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATAT,NC_000009.12:127624053:ATATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATAT,NC_000009.12:127624053:ATATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATAT,NC_000009.12:127624053:ATATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATAT,NC_000009.12:127624053:ATATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATAT,NC_000009.12:127624053:ATATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATAT,NC_000009.12:127624053:ATATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000009.12:127624053:ATATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000009.12:127624053:ATATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000009.12:127624053:ATATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000009.12:127624053:ATATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000009.12:127624053:ATATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000009.12:127624053:ATATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000009.12:127624053:ATATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000009.12:127624053:ATATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT
- Gene:
- STXBP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000009.12:g.127624054AT[2], NC_000009.12:g.127624054AT[5], NC_000009.12:g.127624054AT[6], NC_000009.12:g.127624054AT[7], NC_000009.12:g.127624054AT[8], NC_000009.12:g.127624054AT[9], NC_000009.12:g.127624054AT[10], NC_000009.12:g.127624054AT[11], NC_000009.12:g.127624054AT[12], NC_000009.12:g.127624054AT[13], NC_000009.12:g.127624054AT[14], NC_000009.12:g.127624054AT[15], NC_000009.12:g.127624054AT[16], NC_000009.12:g.127624054AT[17], NC_000009.12:g.127624054AT[18], NC_000009.12:g.127624054AT[19], NC_000009.12:g.127624054AT[20], NC_000009.12:g.127624054AT[21], NC_000009.12:g.127624054AT[22], NC_000009.12:g.127624054AT[23], NC_000009.12:g.127624054AT[25], NC_000009.12:g.127624054AT[26], NC_000009.12:g.127624054AT[27], NC_000009.12:g.127624054AT[28], NC_000009.12:g.127624054AT[29], NC_000009.12:g.127624054AT[30], NC_000009.12:g.127624054AT[31], NC_000009.12:g.127624054AT[32], NC_000009.12:g.127624054AT[34], NC_000009.11:g.130386333AT[2], NC_000009.11:g.130386333AT[5], NC_000009.11:g.130386333AT[6], NC_000009.11:g.130386333AT[7], NC_000009.11:g.130386333AT[8], NC_000009.11:g.130386333AT[9], NC_000009.11:g.130386333AT[10], NC_000009.11:g.130386333AT[11], NC_000009.11:g.130386333AT[12], NC_000009.11:g.130386333AT[13], NC_000009.11:g.130386333AT[14], NC_000009.11:g.130386333AT[15], NC_000009.11:g.130386333AT[16], NC_000009.11:g.130386333AT[17], NC_000009.11:g.130386333AT[18], NC_000009.11:g.130386333AT[19], NC_000009.11:g.130386333AT[20], NC_000009.11:g.130386333AT[21], NC_000009.11:g.130386333AT[22], NC_000009.11:g.130386333AT[23], NC_000009.11:g.130386333AT[25], NC_000009.11:g.130386333AT[26], NC_000009.11:g.130386333AT[27], NC_000009.11:g.130386333AT[28], NC_000009.11:g.130386333AT[29], NC_000009.11:g.130386333AT[30], NC_000009.11:g.130386333AT[31], NC_000009.11:g.130386333AT[32], NC_000009.11:g.130386333AT[34], NG_016623.1:g.16848AT[2], NG_016623.1:g.16848AT[5], NG_016623.1:g.16848AT[6], NG_016623.1:g.16848AT[7], NG_016623.1:g.16848AT[8], NG_016623.1:g.16848AT[9], NG_016623.1:g.16848AT[10], NG_016623.1:g.16848AT[11], NG_016623.1:g.16848AT[12], NG_016623.1:g.16848AT[13], NG_016623.1:g.16848AT[14], NG_016623.1:g.16848AT[15], NG_016623.1:g.16848AT[16], NG_016623.1:g.16848AT[17], NG_016623.1:g.16848AT[18], NG_016623.1:g.16848AT[19], NG_016623.1:g.16848AT[20], NG_016623.1:g.16848AT[21], NG_016623.1:g.16848AT[22], NG_016623.1:g.16848AT[23], NG_016623.1:g.16848AT[25], NG_016623.1:g.16848AT[26], NG_016623.1:g.16848AT[27], NG_016623.1:g.16848AT[28], NG_016623.1:g.16848AT[29], NG_016623.1:g.16848AT[30], NG_016623.1:g.16848AT[31], NG_016623.1:g.16848AT[32], NG_016623.1:g.16848AT[34]
3.
rs1491398215 has merged into rs34918728 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,A
[Show Flanks]
- Chromosome:
- 9:127624968
(GRCh38)
9:130387247
(GRCh37)
- Canonical SPDI:
- NC_000009.12:127624960:AAAAAAAAA:AAAAAAA,NC_000009.12:127624960:AAAAAAAAA:AAAAAAAA
- Gene:
- STXBP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAA=0.009309/62
(
ALFA)
A=0./0
(GENOME_DK)
A=0.001092/2
(Korea1K)
A=0.001486/25
(TOMMO)
A=0.004792/24
(1000Genomes)
A=0.006012/6
(GoNL)
A=0.006502/1721
(TOPMED)
A=0.007821/29
(TWINSUK)
A=0.008563/33
(ALSPAC)
A=0.010714/48
(Estonian)
A=0.013333/8
(NorthernSweden)
- HGVS:
4.
rs1491342063 has merged into rs33930644 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 9:127648892
(GRCh38)
9:130411171
(GRCh37)
- Canonical SPDI:
- NC_000009.12:127648877:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000009.12:127648877:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000009.12:127648877:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000009.12:127648877:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000009.12:127648877:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000009.12:127648877:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000009.12:127648877:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000009.12:127648877:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:127648877:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- STXBP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTTTTTTT=0.0013/6
(
ALFA)
T=0.1152/577
(1000Genomes)
- HGVS:
NC_000009.12:g.127648892_127648896del, NC_000009.12:g.127648893_127648896del, NC_000009.12:g.127648894_127648896del, NC_000009.12:g.127648895_127648896del, NC_000009.12:g.127648896del, NC_000009.12:g.127648896dup, NC_000009.12:g.127648895_127648896dup, NC_000009.12:g.127648894_127648896dup, NC_000009.12:g.127648889_127648896dup, NC_000009.11:g.130411171_130411175del, NC_000009.11:g.130411172_130411175del, NC_000009.11:g.130411173_130411175del, NC_000009.11:g.130411174_130411175del, NC_000009.11:g.130411175del, NC_000009.11:g.130411175dup, NC_000009.11:g.130411174_130411175dup, NC_000009.11:g.130411173_130411175dup, NC_000009.11:g.130411168_130411175dup, NG_016623.1:g.41686_41690del, NG_016623.1:g.41687_41690del, NG_016623.1:g.41688_41690del, NG_016623.1:g.41689_41690del, NG_016623.1:g.41690del, NG_016623.1:g.41690dup, NG_016623.1:g.41689_41690dup, NG_016623.1:g.41688_41690dup, NG_016623.1:g.41683_41690dup
5.
rs1491338406 has merged into rs5900755 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTT>-,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 9:127622717
(GRCh38)
9:130384996
(GRCh37)
- Canonical SPDI:
- NC_000009.12:127622708:TTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000009.12:127622708:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000009.12:127622708:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000009.12:127622708:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000009.12:127622708:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000009.12:127622708:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000009.12:127622708:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000009.12:127622708:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:127622708:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- STXBP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.160144/802
(1000Genomes)
T=0.35/14
(GENOME_DK)
- HGVS:
NC_000009.12:g.127622717_127622726del, NC_000009.12:g.127622724_127622726del, NC_000009.12:g.127622725_127622726del, NC_000009.12:g.127622726del, NC_000009.12:g.127622726dup, NC_000009.12:g.127622725_127622726dup, NC_000009.12:g.127622724_127622726dup, NC_000009.12:g.127622723_127622726dup, NC_000009.12:g.127622721_127622726dup, NC_000009.11:g.130384996_130385005del, NC_000009.11:g.130385003_130385005del, NC_000009.11:g.130385004_130385005del, NC_000009.11:g.130385005del, NC_000009.11:g.130385005dup, NC_000009.11:g.130385004_130385005dup, NC_000009.11:g.130385003_130385005dup, NC_000009.11:g.130385002_130385005dup, NC_000009.11:g.130385000_130385005dup, NG_016623.1:g.15511_15520del, NG_016623.1:g.15518_15520del, NG_016623.1:g.15519_15520del, NG_016623.1:g.15520del, NG_016623.1:g.15520dup, NG_016623.1:g.15519_15520dup, NG_016623.1:g.15518_15520dup, NG_016623.1:g.15517_15520dup, NG_016623.1:g.15515_15520dup
6.
rs1491298364 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CA
[Show Flanks]
- Chromosome:
- 9:127624961
(GRCh38)
9:130387241
(GRCh37)
- Canonical SPDI:
- NC_000009.12:127624961:A:ACA
- Gene:
- STXBP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACA=0./0
(
ALFA)
AC=0.000011/3
(TOPMED)
AC=0.05/1
(GnomAD)
- HGVS:
7.
rs1491287368 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->T,TAT,TATAT,TATATATAT,TGT
[Show Flanks]
- Chromosome:
- 9:127624053
(GRCh38)
9:130386333
(GRCh37)
- Canonical SPDI:
- NC_000009.12:127624053::T,NC_000009.12:127624053::TAT,NC_000009.12:127624053::TATAT,NC_000009.12:127624053::TATATATAT,NC_000009.12:127624053::TGT
- Gene:
- STXBP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000009.12:g.127624053_127624054insT, NC_000009.12:g.127624053_127624054insTAT, NC_000009.12:g.127624053_127624054insTATAT, NC_000009.12:g.127624053_127624054insTATATATAT, NC_000009.12:g.127624053_127624054insTGT, NC_000009.11:g.130386332_130386333insT, NC_000009.11:g.130386332_130386333insTAT, NC_000009.11:g.130386332_130386333insTATAT, NC_000009.11:g.130386332_130386333insTATATATAT, NC_000009.11:g.130386332_130386333insTGT, NG_016623.1:g.16847_16848insT, NG_016623.1:g.16847_16848insTAT, NG_016623.1:g.16847_16848insTATAT, NG_016623.1:g.16847_16848insTATATATAT, NG_016623.1:g.16847_16848insTGT
8.
rs1491257956 has merged into rs1189551822 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CC>-,C,CCC,CCCC
[Show Flanks]
- Chromosome:
- 9:127671151
(GRCh38)
9:130433430
(GRCh37)
- Canonical SPDI:
- NC_000009.12:127671146:CCCCCC:CCCC,NC_000009.12:127671146:CCCCCC:CCCCC,NC_000009.12:127671146:CCCCCC:CCCCCCC,NC_000009.12:127671146:CCCCCC:CCCCCCCC
- Gene:
- STXBP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCCCCCC=0./0
(
ALFA)
C=0.000022/3
(GnomAD)
-=0.000672/19
(TOMMO)
- HGVS:
NC_000009.12:g.127671151_127671152del, NC_000009.12:g.127671152del, NC_000009.12:g.127671152dup, NC_000009.12:g.127671151_127671152dup, NC_000009.11:g.130433430_130433431del, NC_000009.11:g.130433431del, NC_000009.11:g.130433431dup, NC_000009.11:g.130433430_130433431dup, NG_016623.1:g.63945_63946del, NG_016623.1:g.63946del, NG_016623.1:g.63946dup, NG_016623.1:g.63945_63946dup
9.
rs1491245523 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 9:127648877
(GRCh38)
9:130411156
(GRCh37)
- Canonical SPDI:
- NC_000009.12:127648876:AT:
- Gene:
- STXBP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00632/75
(
ALFA)
-=0.01088/997
(GnomAD)
- HGVS:
10.
rs1491242583 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AGAAAA>-,AGAAAAAGAAAA
[Show Flanks]
- Chromosome:
- 9:127611284
(GRCh38)
9:130373563
(GRCh37)
- Canonical SPDI:
- NC_000009.12:127611273:AAAAAGAAAAAGAAAA:AAAAAGAAAA,NC_000009.12:127611273:AAAAAGAAAAAGAAAA:AAAAAGAAAAAGAAAAAGAAAA
- Gene:
- STXBP1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAGAAAAAGAAAAAGAAAA=0./0
(
ALFA)
AAAAAG=0.000014/2
(GnomAD)
- HGVS:
11.
rs1491187717 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AA>-
[Show Flanks]
- Chromosome:
- 9:127624053
(GRCh38)
9:130386332
(GRCh37)
- Canonical SPDI:
- NC_000009.12:127624052:AA:
- Gene:
- STXBP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.00057/9
(TOMMO)
-=0.00144/33
(GnomAD)
- HGVS:
13.
rs1491139848 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAA>-,AAA
[Show Flanks]
- Chromosome:
- 9:127611274
(GRCh38)
9:130373553
(GRCh37)
- Canonical SPDI:
- NC_000009.12:127611272:AAAAAA:A,NC_000009.12:127611272:AAAAAA:AAAA
- Gene:
- STXBP1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
AAAA=0./0
(
ALFA)
-=0.00001/1
(GnomAD)
- HGVS:
14.
rs1490982276 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- A>-
[Show Flanks]
- Chromosome:
- 9:127688439
(GRCh38)
9:130450718
(GRCh37)
- Canonical SPDI:
- NC_000009.12:127688438:AA:A
- Gene:
- STXBP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
AA=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
15.
rs1490963282 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 9:127629170
(GRCh38)
9:130391449
(GRCh37)
- Canonical SPDI:
- NC_000009.12:127629169:GG:G
- Gene:
- STXBP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
GG=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
16.
rs1490936911 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTAT>-
[Show Flanks]
- Chromosome:
- 9:127614230
(GRCh38)
9:130376509
(GRCh37)
- Canonical SPDI:
- NC_000009.12:127614224:TGTATGTAT:TGTAT
- Gene:
- STXBP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTAT=0.000142/2
(
ALFA)
-=0.000086/12
(GnomAD)
-=0.00011/29
(TOPMED)
- HGVS:
17.
rs1490935621 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:127614720
(GRCh38)
9:130376999
(GRCh37)
- Canonical SPDI:
- NC_000009.12:127614719:G:A
- Gene:
- STXBP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000038/10
(TOPMED)
A=0.000312/2
(1000Genomes)
- HGVS:
18.
rs1490918833 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 9:127671685
(GRCh38)
9:130433964
(GRCh37)
- Canonical SPDI:
- NC_000009.12:127671684:T:C
- Gene:
- STXBP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
C=0.000007/1
(GnomAD)
C=0.003333/2
(NorthernSweden)
- HGVS:
19.
rs1490893750 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:127644605
(GRCh38)
9:130406884
(GRCh37)
- Canonical SPDI:
- NC_000009.12:127644604:C:T
- Gene:
- STXBP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
20.
rs1490842809 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 9:127645610
(GRCh38)
9:130407889
(GRCh37)
- Canonical SPDI:
- NC_000009.12:127645609:T:C
- Gene:
- STXBP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000011/3
(TOPMED)
C=0.000021/3
(GnomAD)
- HGVS: