Links from Gene
Items: 1 to 20 of 1000
2.
rs1491488403 has merged into rs34041277 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 4:76964311
(GRCh38)
4:77885464
(GRCh37)
- Canonical SPDI:
- NC_000004.12:76964298:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000004.12:76964298:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000004.12:76964298:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000004.12:76964298:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000004.12:76964298:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000004.12:76964298:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000004.12:76964298:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000004.12:76964298:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000004.12:76964298:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000004.12:76964298:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:76964298:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- SEPTIN11 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTT=0./0
(
ALFA)
TTTT=0.349/1748
(1000Genomes)
- HGVS:
NC_000004.12:g.76964311_76964317del, NC_000004.12:g.76964312_76964317del, NC_000004.12:g.76964313_76964317del, NC_000004.12:g.76964314_76964317del, NC_000004.12:g.76964315_76964317del, NC_000004.12:g.76964316_76964317del, NC_000004.12:g.76964317del, NC_000004.12:g.76964317dup, NC_000004.12:g.76964316_76964317dup, NC_000004.12:g.76964315_76964317dup, NC_000004.12:g.76964314_76964317dup, NC_000004.11:g.77885464_77885470del, NC_000004.11:g.77885465_77885470del, NC_000004.11:g.77885466_77885470del, NC_000004.11:g.77885467_77885470del, NC_000004.11:g.77885468_77885470del, NC_000004.11:g.77885469_77885470del, NC_000004.11:g.77885470del, NC_000004.11:g.77885470dup, NC_000004.11:g.77885469_77885470dup, NC_000004.11:g.77885468_77885470dup, NC_000004.11:g.77885467_77885470dup, XM_047415960.1:c.-10494_-10488del, XM_047415960.1:c.-10493_-10488del, XM_047415960.1:c.-10492_-10488del, XM_047415960.1:c.-10491_-10488del, XM_047415960.1:c.-10490_-10488del, XM_047415960.1:c.-10489_-10488del, XM_047415960.1:c.-10488del, XM_047415960.1:c.-10488dup, XM_047415960.1:c.-10489_-10488dup, XM_047415960.1:c.-10490_-10488dup, XM_047415960.1:c.-10491_-10488dup
3.
rs1491484238 has merged into rs61693678 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CACACACACACACACACA>-,CA,CACA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACA
[Show Flanks]
- Chromosome:
- 4:77023285
(GRCh38)
4:77944438
(GRCh37)
- Canonical SPDI:
- NC_000004.12:77023269:ACACACACACACACACACACACACACACACACA:ACACACACACACACA,NC_000004.12:77023269:ACACACACACACACACACACACACACACACACA:ACACACACACACACACA,NC_000004.12:77023269:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACA,NC_000004.12:77023269:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACA,NC_000004.12:77023269:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000004.12:77023269:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000004.12:77023269:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000004.12:77023269:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000004.12:77023269:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA,NC_000004.12:77023269:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA,NC_000004.12:77023269:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACA,NC_000004.12:77023269:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACA,NC_000004.12:77023269:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACA,NC_000004.12:77023269:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACA,NC_000004.12:77023269:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACA,NC_000004.12:77023269:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACA,NC_000004.12:77023269:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000004.12:77023269:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACA
- Gene:
- SEPTIN11 (Varview), LOC105377291 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACACACACACACACACA=0./0
(
ALFA)
- HGVS:
NC_000004.12:g.77023271CA[7], NC_000004.12:g.77023271CA[8], NC_000004.12:g.77023271CA[9], NC_000004.12:g.77023271CA[10], NC_000004.12:g.77023271CA[11], NC_000004.12:g.77023271CA[12], NC_000004.12:g.77023271CA[13], NC_000004.12:g.77023271CA[14], NC_000004.12:g.77023271CA[15], NC_000004.12:g.77023271CA[17], NC_000004.12:g.77023271CA[18], NC_000004.12:g.77023271CA[19], NC_000004.12:g.77023271CA[20], NC_000004.12:g.77023271CA[21], NC_000004.12:g.77023271CA[22], NC_000004.12:g.77023271CA[23], NC_000004.12:g.77023271CA[24], NC_000004.12:g.77023271CA[25], NC_000004.11:g.77944424CA[7], NC_000004.11:g.77944424CA[8], NC_000004.11:g.77944424CA[9], NC_000004.11:g.77944424CA[10], NC_000004.11:g.77944424CA[11], NC_000004.11:g.77944424CA[12], NC_000004.11:g.77944424CA[13], NC_000004.11:g.77944424CA[14], NC_000004.11:g.77944424CA[15], NC_000004.11:g.77944424CA[17], NC_000004.11:g.77944424CA[18], NC_000004.11:g.77944424CA[19], NC_000004.11:g.77944424CA[20], NC_000004.11:g.77944424CA[21], NC_000004.11:g.77944424CA[22], NC_000004.11:g.77944424CA[23], NC_000004.11:g.77944424CA[24], NC_000004.11:g.77944424CA[25], XR_001741734.2:n.25GT[7], XR_001741734.2:n.25GT[8], XR_001741734.2:n.25GT[9], XR_001741734.2:n.25GT[10], XR_001741734.2:n.25GT[11], XR_001741734.2:n.25GT[12], XR_001741734.2:n.25GT[13], XR_001741734.2:n.25GT[14], XR_001741734.2:n.25GT[15], XR_001741734.2:n.25GT[17], XR_001741734.2:n.25GT[18], XR_001741734.2:n.25GT[19], XR_001741734.2:n.25GT[20], XR_001741734.2:n.25GT[21], XR_001741734.2:n.25GT[22], XR_001741734.2:n.25GT[23], XR_001741734.2:n.25GT[24], XR_001741734.2:n.25GT[25]
4.
rs1491454972 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 4:76964298
(GRCh38)
4:77885451
(GRCh37)
- Canonical SPDI:
- NC_000004.12:76964297:AT:
- Gene:
- SEPTIN11 (Varview)
- Functional Consequence:
- intron_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00017/2
(
ALFA)
-=0.0001/9
(GnomAD)
- HGVS:
5.
rs1491409658 has merged into rs202035045 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TGTGTGTGTGTG>-,TG,TGTG,TGTGTG,TGTGTGTG,TGTGTGTGTG,TGTGTGTGTGTGTG,TGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
[Show Flanks]
- Chromosome:
- 4:76956983
(GRCh38)
4:77878136
(GRCh37)
- Canonical SPDI:
- NC_000004.12:76956962:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTG,NC_000004.12:76956962:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:76956962:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:76956962:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:76956962:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:76956962:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:76956962:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:76956962:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:76956962:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:76956962:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:76956962:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:76956962:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:76956962:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:76956962:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:76956962:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:76956962:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:76956962:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:76956962:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:76956962:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:76956962:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:76956962:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:76956962:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
- Gene:
- SEPTIN11 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGTGTGTGTGTGTGTGTGTG=0./0
(
ALFA)
-=0.175/7
(GENOME_DK)
- HGVS:
NC_000004.12:g.76956963TG[10], NC_000004.12:g.76956963TG[11], NC_000004.12:g.76956963TG[12], NC_000004.12:g.76956963TG[13], NC_000004.12:g.76956963TG[14], NC_000004.12:g.76956963TG[15], NC_000004.12:g.76956963TG[17], NC_000004.12:g.76956963TG[18], NC_000004.12:g.76956963TG[19], NC_000004.12:g.76956963TG[20], NC_000004.12:g.76956963TG[21], NC_000004.12:g.76956963TG[22], NC_000004.12:g.76956963TG[23], NC_000004.12:g.76956963TG[24], NC_000004.12:g.76956963TG[25], NC_000004.12:g.76956963TG[26], NC_000004.12:g.76956963TG[27], NC_000004.12:g.76956963TG[28], NC_000004.12:g.76956963TG[29], NC_000004.12:g.76956963TG[30], NC_000004.12:g.76956963TG[31], NC_000004.12:g.76956963TG[32], NC_000004.11:g.77878116TG[10], NC_000004.11:g.77878116TG[11], NC_000004.11:g.77878116TG[12], NC_000004.11:g.77878116TG[13], NC_000004.11:g.77878116TG[14], NC_000004.11:g.77878116TG[15], NC_000004.11:g.77878116TG[17], NC_000004.11:g.77878116TG[18], NC_000004.11:g.77878116TG[19], NC_000004.11:g.77878116TG[20], NC_000004.11:g.77878116TG[21], NC_000004.11:g.77878116TG[22], NC_000004.11:g.77878116TG[23], NC_000004.11:g.77878116TG[24], NC_000004.11:g.77878116TG[25], NC_000004.11:g.77878116TG[26], NC_000004.11:g.77878116TG[27], NC_000004.11:g.77878116TG[28], NC_000004.11:g.77878116TG[29], NC_000004.11:g.77878116TG[30], NC_000004.11:g.77878116TG[31], NC_000004.11:g.77878116TG[32]
6.
rs1491385966 has merged into rs149722958 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GAGAGAGAGAGA>-,GA,GAGA,GAGAGA,GAGAGAGA,GAGAGAGAGA,GAGAGAGAGAGAGA,GAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGA
[Show Flanks]
- Chromosome:
- 4:76956996
(GRCh38)
4:77878149
(GRCh37)
- Canonical SPDI:
- NC_000004.12:76956993:GAGAGAGAGAGAGA:GA,NC_000004.12:76956993:GAGAGAGAGAGAGA:GAGA,NC_000004.12:76956993:GAGAGAGAGAGAGA:GAGAGA,NC_000004.12:76956993:GAGAGAGAGAGAGA:GAGAGAGA,NC_000004.12:76956993:GAGAGAGAGAGAGA:GAGAGAGAGA,NC_000004.12:76956993:GAGAGAGAGAGAGA:GAGAGAGAGAGA,NC_000004.12:76956993:GAGAGAGAGAGAGA:GAGAGAGAGAGAGAGA,NC_000004.12:76956993:GAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGA,NC_000004.12:76956993:GAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGA
- Gene:
- SEPTIN11 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GAGA=0./0
(
ALFA)
-=0.00333/2
(NorthernSweden)
- HGVS:
NC_000004.12:g.76956994GA[1], NC_000004.12:g.76956994GA[2], NC_000004.12:g.76956994GA[3], NC_000004.12:g.76956994GA[4], NC_000004.12:g.76956994GA[5], NC_000004.12:g.76956994GA[6], NC_000004.12:g.76956994GA[8], NC_000004.12:g.76956994GA[9], NC_000004.12:g.76956994GA[10], NC_000004.11:g.77878147GA[1], NC_000004.11:g.77878147GA[2], NC_000004.11:g.77878147GA[3], NC_000004.11:g.77878147GA[4], NC_000004.11:g.77878147GA[5], NC_000004.11:g.77878147GA[6], NC_000004.11:g.77878147GA[8], NC_000004.11:g.77878147GA[9], NC_000004.11:g.77878147GA[10]
7.
rs1491383434 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->ATT
[Show Flanks]
- Chromosome:
- 4:76954984
(GRCh38)
4:77876138
(GRCh37)
- Canonical SPDI:
- NC_000004.12:76954984:TT:TTATT
- Gene:
- SEPTIN11 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTATT=0./0
(
ALFA)
TTA=0.00025/4
(TOMMO)
TTA=0.00102/3
(GnomAD)
- HGVS:
8.
rs1491287689 has merged into rs1553966569 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->ATGT,ATGTGTGTGTGT,ATGTGTGTGTGTGT,ATGTGTGTGTGTGTGT,ATGTGTGTGTGTGTGTGTGTGT,T,TGTGT,TGTGTGT,TGTGTGTGT,TGTGTGTGTGTGT,TGTGTGTGTGTGTGT
[Show Flanks]
- Chromosome:
- 4:76956962
(GRCh38)
4:77878116
(GRCh37)
- Canonical SPDI:
- NC_000004.12:76956962:T:TATGT,NC_000004.12:76956962:T:TATGTGTGTGTGT,NC_000004.12:76956962:T:TATGTGTGTGTGTGT,NC_000004.12:76956962:T:TATGTGTGTGTGTGTGT,NC_000004.12:76956962:T:TATGTGTGTGTGTGTGTGTGTGT,NC_000004.12:76956962:T:TT,NC_000004.12:76956962:T:TTGTGT,NC_000004.12:76956962:T:TTGTGTGT,NC_000004.12:76956962:T:TTGTGTGTGT,NC_000004.12:76956962:T:TTGTGTGTGTGTGT,NC_000004.12:76956962:T:TTGTGTGTGTGTGTGT
- Gene:
- SEPTIN11 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TATGTGTGTGTGT=0./0
(
ALFA)
- HGVS:
NC_000004.12:g.76956963_76956964insATGT, NC_000004.12:g.76956963_76956964insATGTGTGTGTGT, NC_000004.12:g.76956963_76956964insATGTGTGTGTGTGT, NC_000004.12:g.76956963_76956964insATGTGTGTGTGTGTGT, NC_000004.12:g.76956963_76956964insATGTGTGTGTGTGTGTGTGTGT, NC_000004.12:g.76956963dup, NC_000004.12:g.76956963_76956964insTGTGT, NC_000004.12:g.76956963_76956964insTGTGTGT, NC_000004.12:g.76956963_76956964insTGTGTGTGT, NC_000004.12:g.76956963_76956964insTGTGTGTGTGTGT, NC_000004.12:g.76956963_76956964insTGTGTGTGTGTGTGT, NC_000004.11:g.77878116_77878117insATGT, NC_000004.11:g.77878116_77878117insATGTGTGTGTGT, NC_000004.11:g.77878116_77878117insATGTGTGTGTGTGT, NC_000004.11:g.77878116_77878117insATGTGTGTGTGTGTGT, NC_000004.11:g.77878116_77878117insATGTGTGTGTGTGTGTGTGTGT, NC_000004.11:g.77878116dup, NC_000004.11:g.77878116_77878117insTGTGT, NC_000004.11:g.77878116_77878117insTGTGTGT, NC_000004.11:g.77878116_77878117insTGTGTGTGT, NC_000004.11:g.77878116_77878117insTGTGTGTGTGTGT, NC_000004.11:g.77878116_77878117insTGTGTGTGTGTGTGT
9.
rs1491209122 has merged into rs11324669 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T,TTT
[Show Flanks]
- Chromosome:
- 4:76954991
(GRCh38)
4:77876144
(GRCh37)
- Canonical SPDI:
- NC_000004.12:76954983:TTTTTTTTT:TTTTTTT,NC_000004.12:76954983:TTTTTTTTT:TTTTTTTT,NC_000004.12:76954983:TTTTTTTTT:TTTTTTTTTT
- Gene:
- SEPTIN11 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTT=0./0
(
ALFA)
T=0.031319/525
(TOMMO)
T=0.05131/94
(Korea1K)
T=0.131187/34724
(TOPMED)
T=0.15/6
(GENOME_DK)
T=0.15/90
(NorthernSweden)
T=0.177184/657
(TWINSUK)
T=0.179554/692
(ALSPAC)
T=0.183367/183
(GoNL)
- HGVS:
10.
rs1491108860 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->TGTGTATCTTTAAGGGACCA,TGTGTGTGTGTGTGTGAC,TGTGTGTGTGTGTGTGTGAC,TGTGTGTGTGTGTGTGTGTGAC,TGTGTGTGTGTGTGTGTGTGTGAC,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAC
[Show Flanks]
- Chromosome:
- 4:76956994
(GRCh38)
4:77878148
(GRCh37)
- Canonical SPDI:
- NC_000004.12:76956994::TGTGTATCTTTAAGGGACCA,NC_000004.12:76956994::TGTGTGTGTGTGTGTGAC,NC_000004.12:76956994::TGTGTGTGTGTGTGTGTGAC,NC_000004.12:76956994::TGTGTGTGTGTGTGTGTGTGAC,NC_000004.12:76956994::TGTGTGTGTGTGTGTGTGTGTGAC,NC_000004.12:76956994::TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAC
- Gene:
- SEPTIN11 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by cluster
- HGVS:
NC_000004.12:g.76956994_76956995insTGTGTATCTTTAAGGGACCA, NC_000004.12:g.76956994_76956995insTGTGTGTGTGTGTGTGAC, NC_000004.12:g.76956994_76956995insTGTGTGTGTGTGTGTGTGAC, NC_000004.12:g.76956994_76956995insTGTGTGTGTGTGTGTGTGTGAC, NC_000004.12:g.76956994_76956995insTGTGTGTGTGTGTGTGTGTGTGAC, NC_000004.12:g.76956994_76956995insTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAC, NC_000004.11:g.77878147_77878148insTGTGTATCTTTAAGGGACCA, NC_000004.11:g.77878147_77878148insTGTGTGTGTGTGTGTGAC, NC_000004.11:g.77878147_77878148insTGTGTGTGTGTGTGTGTGAC, NC_000004.11:g.77878147_77878148insTGTGTGTGTGTGTGTGTGTGAC, NC_000004.11:g.77878147_77878148insTGTGTGTGTGTGTGTGTGTGTGAC, NC_000004.11:g.77878147_77878148insTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAC
12.
rs1490921139 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 4:77004456
(GRCh38)
4:77925609
(GRCh37)
- Canonical SPDI:
- NC_000004.12:77004455:G:A
- Gene:
- SEPTIN11 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
13.
rs1490895495 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 4:76972450
(GRCh38)
4:77893603
(GRCh37)
- Canonical SPDI:
- NC_000004.12:76972449:C:T
- Gene:
- SEPTIN11 (Varview)
- Functional Consequence:
- intron_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000094/1
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
15.
rs1490839458 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 4:76968961
(GRCh38)
4:77890114
(GRCh37)
- Canonical SPDI:
- NC_000004.12:76968960:G:A
- Gene:
- SEPTIN11 (Varview)
- Functional Consequence:
- intron_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
- HGVS:
16.
rs1490821246 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 4:77030296
(GRCh38)
4:77951449
(GRCh37)
- Canonical SPDI:
- NC_000004.12:77030295:A:T
- Gene:
- SEPTIN11 (Varview)
- Functional Consequence:
- 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:
17.
rs1490773490 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 4:76967734
(GRCh38)
4:77888887
(GRCh37)
- Canonical SPDI:
- NC_000004.12:76967733:T:C
- Gene:
- SEPTIN11 (Varview)
- Functional Consequence:
- intron_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000019/5
(TOPMED)
C=0.00002/2
(GnomAD)
- HGVS:
18.
rs1490714507 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 4:77013357
(GRCh38)
4:77934510
(GRCh37)
- Canonical SPDI:
- NC_000004.12:77013356:T:C
- Gene:
- SEPTIN11 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
19.
rs1490705355 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 4:76950139
(GRCh38)
4:77871292
(GRCh37)
- Canonical SPDI:
- NC_000004.12:76950138:C:G,NC_000004.12:76950138:C:T
- Gene:
- SEPTIN11 (Varview), LOC105377294 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
- HGVS:
20.
rs1490688667 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 4:77014610
(GRCh38)
4:77935763
(GRCh37)
- Canonical SPDI:
- NC_000004.12:77014609:C:A
- Gene:
- SEPTIN11 (Varview), LOC105377291 (Varview)
- Functional Consequence:
- intron_variant,500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS: