Links from Gene
Items: 1 to 20 of 1000
1.
rs1491575166 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CATC
[Show Flanks]
- Chromosome:
- 16:47205853
(GRCh38)
16:47239765
(GRCh37)
- Canonical SPDI:
- NC_000016.10:47205853:ATC:ATCCATC
- Gene:
- ITFG1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
ATCCATC=0./0
(
ALFA)
ATCC=0.000008/1
(GnomAD)
- HGVS:
2.
rs1491570088 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 16:47422452
(GRCh38)
16:47456363
(GRCh37)
- Canonical SPDI:
- NC_000016.10:47422451:CT:
- Gene:
- ITFG1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
3.
rs1491569035 has merged into rs57470225 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT>-,GT,GTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
[Show Flanks]
- Chromosome:
- 16:47244609
(GRCh38)
16:47278520
(GRCh37)
- Canonical SPDI:
- NC_000016.10:47244591:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000016.10:47244591:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000016.10:47244591:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000016.10:47244591:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000016.10:47244591:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000016.10:47244591:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000016.10:47244591:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000016.10:47244591:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000016.10:47244591:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000016.10:47244591:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000016.10:47244591:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000016.10:47244591:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000016.10:47244591:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000016.10:47244591:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000016.10:47244591:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000016.10:47244591:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000016.10:47244591:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000016.10:47244591:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000016.10:47244591:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000016.10:47244591:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000016.10:47244591:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000016.10:47244591:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000016.10:47244591:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000016.10:47244591:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000016.10:47244591:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000016.10:47244591:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000016.10:47244591:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000016.10:47244591:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
- Gene:
- ITFG1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGTGTGTGTGTGTGTGTGT=0./0
(
ALFA)
- HGVS:
NC_000016.10:g.47244593GT[8], NC_000016.10:g.47244593GT[9], NC_000016.10:g.47244593GT[10], NC_000016.10:g.47244593GT[12], NC_000016.10:g.47244593GT[13], NC_000016.10:g.47244593GT[14], NC_000016.10:g.47244593GT[15], NC_000016.10:g.47244593GT[16], NC_000016.10:g.47244593GT[17], NC_000016.10:g.47244593GT[18], NC_000016.10:g.47244593GT[19], NC_000016.10:g.47244593GT[20], NC_000016.10:g.47244593GT[21], NC_000016.10:g.47244593GT[22], NC_000016.10:g.47244593GT[23], NC_000016.10:g.47244593GT[24], NC_000016.10:g.47244593GT[25], NC_000016.10:g.47244593GT[26], NC_000016.10:g.47244593GT[27], NC_000016.10:g.47244593GT[28], NC_000016.10:g.47244593GT[30], NC_000016.10:g.47244593GT[31], NC_000016.10:g.47244593GT[32], NC_000016.10:g.47244593GT[33], NC_000016.10:g.47244593GT[34], NC_000016.10:g.47244593GT[35], NC_000016.10:g.47244593GT[36], NC_000016.10:g.47244593GT[38], NC_000016.9:g.47278504GT[8], NC_000016.9:g.47278504GT[9], NC_000016.9:g.47278504GT[10], NC_000016.9:g.47278504GT[12], NC_000016.9:g.47278504GT[13], NC_000016.9:g.47278504GT[14], NC_000016.9:g.47278504GT[15], NC_000016.9:g.47278504GT[16], NC_000016.9:g.47278504GT[17], NC_000016.9:g.47278504GT[18], NC_000016.9:g.47278504GT[19], NC_000016.9:g.47278504GT[20], NC_000016.9:g.47278504GT[21], NC_000016.9:g.47278504GT[22], NC_000016.9:g.47278504GT[23], NC_000016.9:g.47278504GT[24], NC_000016.9:g.47278504GT[25], NC_000016.9:g.47278504GT[26], NC_000016.9:g.47278504GT[27], NC_000016.9:g.47278504GT[28], NC_000016.9:g.47278504GT[30], NC_000016.9:g.47278504GT[31], NC_000016.9:g.47278504GT[32], NC_000016.9:g.47278504GT[33], NC_000016.9:g.47278504GT[34], NC_000016.9:g.47278504GT[35], NC_000016.9:g.47278504GT[36], NC_000016.9:g.47278504GT[38]
4.
rs1491536663 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->AT
[Show Flanks]
- Chromosome:
- 16:47214961
(GRCh38)
16:47248873
(GRCh37)
- Canonical SPDI:
- NC_000016.10:47214961::AT
- Gene:
- ITFG1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
AT=0./0
(
ALFA)
AT=0.000058/8
(GnomAD)
- HGVS:
5.
rs1491530182 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AA>-
[Show Flanks]
- Chromosome:
- 16:47433770
(GRCh38)
16:47467681
(GRCh37)
- Canonical SPDI:
- NC_000016.10:47433769:AA:
- Gene:
- ITFG1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.000084/1
(
ALFA)
-=0.00001/1
(GnomAD)
- HGVS:
7.
rs1491507727 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 16:47193221
(GRCh38)
16:47227132
(GRCh37)
- Canonical SPDI:
- NC_000016.10:47193220:AT:
- Gene:
- ITFG1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
- HGVS:
8.
rs1491500663 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 16:47324862
(GRCh38)
16:47358773
(GRCh37)
- Canonical SPDI:
- NC_000016.10:47324861:TA:
- Gene:
- ITFG1 (Varview), LOC101927080 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
- HGVS:
9.
rs1491488629 has merged into rs3222534 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CACACACACACACACACACACACACACACACACACACAA,CACACACACACACACACACACACACACACACACACACACAA,CACACACACACACACACACACACACACACACACACACACACAA,CACACACACACACACACACACACACACACACACACACACACACAA,CACACACACACACACACACACACACACACACACACACACACACACAA,CACACACACACACACACACACACACACACACACACACACACACACACAA,CACACACACACACACACACACACACACACACACACACACACACACACACACACACAA,CAGA
[Show Flanks]
- Chromosome:
- 16:47403807
(GRCh38)
16:47437719
(GRCh37)
- Canonical SPDI:
- NC_000016.10:47403807:A:ACACACACACACACACACACACACACACACACACACACAA,NC_000016.10:47403807:A:ACACACACACACACACACACACACACACACACACACACACAA,NC_000016.10:47403807:A:ACACACACACACACACACACACACACACACACACACACACACAA,NC_000016.10:47403807:A:ACACACACACACACACACACACACACACACACACACACACACACAA,NC_000016.10:47403807:A:ACACACACACACACACACACACACACACACACACACACACACACACAA,NC_000016.10:47403807:A:ACACACACACACACACACACACACACACACACACACACACACACACACAA,NC_000016.10:47403807:A:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACAA,NC_000016.10:47403807:A:ACAGA
- Gene:
- ITFG1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACAGA=0./0
(
ALFA)
ACAG=0.000004/1
(TOPMED)
- HGVS:
NC_000016.10:g.47403808AC[19]AA[1], NC_000016.10:g.47403808AC[20]AA[1], NC_000016.10:g.47403808AC[21]AA[1], NC_000016.10:g.47403808AC[22]AA[1], NC_000016.10:g.47403808AC[23]AA[1], NC_000016.10:g.47403808AC[24]AA[1], NC_000016.10:g.47403808AC[28]AA[1], NC_000016.10:g.47403808_47403809insCAGA, NC_000016.9:g.47437719AC[19]AA[1], NC_000016.9:g.47437719AC[20]AA[1], NC_000016.9:g.47437719AC[21]AA[1], NC_000016.9:g.47437719AC[22]AA[1], NC_000016.9:g.47437719AC[23]AA[1], NC_000016.9:g.47437719AC[24]AA[1], NC_000016.9:g.47437719AC[28]AA[1], NC_000016.9:g.47437719_47437720insCAGA
10.
rs1491473257 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CGTG
[Show Flanks]
- Chromosome:
- 16:47244592
(GRCh38)
16:47278504
(GRCh37)
- Canonical SPDI:
- NC_000016.10:47244592:GTG:GTGCGTG
- Gene:
- ITFG1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
GTGCGTG=0./0
(
ALFA)
GTGC=0.0134/13
(GnomAD)
- HGVS:
11.
rs1491456267 has merged into rs34669796 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 16:47412707
(GRCh38)
16:47446618
(GRCh37)
- Canonical SPDI:
- NC_000016.10:47412695:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000016.10:47412695:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000016.10:47412695:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000016.10:47412695:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000016.10:47412695:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000016.10:47412695:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000016.10:47412695:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000016.10:47412695:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000016.10:47412695:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:47412695:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:47412695:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:47412695:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- ITFG1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAA=0./0
(
ALFA)
- HGVS:
NC_000016.10:g.47412707_47412713del, NC_000016.10:g.47412709_47412713del, NC_000016.10:g.47412710_47412713del, NC_000016.10:g.47412711_47412713del, NC_000016.10:g.47412712_47412713del, NC_000016.10:g.47412713del, NC_000016.10:g.47412713dup, NC_000016.10:g.47412712_47412713dup, NC_000016.10:g.47412707_47412713dup, NC_000016.10:g.47412704_47412713dup, NC_000016.10:g.47412713_47412714insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000016.10:g.47412696_47412713A[18]CAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000016.9:g.47446618_47446624del, NC_000016.9:g.47446620_47446624del, NC_000016.9:g.47446621_47446624del, NC_000016.9:g.47446622_47446624del, NC_000016.9:g.47446623_47446624del, NC_000016.9:g.47446624del, NC_000016.9:g.47446624dup, NC_000016.9:g.47446623_47446624dup, NC_000016.9:g.47446618_47446624dup, NC_000016.9:g.47446615_47446624dup, NC_000016.9:g.47446624_47446625insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000016.9:g.47446607_47446624A[18]CAAAAAAAAAAAAAAAAAAAAAAAAA[1]
12.
rs1491453135 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 16:47324862
(GRCh38)
16:47358774
(GRCh37)
- Canonical SPDI:
- NC_000016.10:47324862:A:AA
- Gene:
- ITFG1 (Varview), LOC101927080 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AA=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
13.
rs1491436750 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GCAC
[Show Flanks]
- Chromosome:
- 16:47421270
(GRCh38)
16:47455182
(GRCh37)
- Canonical SPDI:
- NC_000016.10:47421270:C:CGCAC
- Gene:
- ITFG1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
CGCAC=0./0
(
ALFA)
CGCA=0.000017/2
(GnomAD)
- HGVS:
14.
rs1491422993 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 16:47403412
(GRCh38)
16:47437324
(GRCh37)
- Canonical SPDI:
- NC_000016.10:47403412:AAAAAAAA:AAAAAAAAA
- Gene:
- ITFG1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAA=0.000162/3
(
ALFA)
A=0.000122/17
(GnomAD)
A=0.000446/2
(Estonian)
A=0.000743/12
(TOMMO)
- HGVS:
15.
rs1491401803 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TT>-
[Show Flanks]
- Chromosome:
- 16:47373317
(GRCh38)
16:47407228
(GRCh37)
- Canonical SPDI:
- NC_000016.10:47373316:TT:
- Gene:
- ITFG1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000023/6
(TOPMED)
-=0.001198/6
(1000Genomes)
- HGVS:
16.
rs1491379219 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 16:47418092
(GRCh38)
16:47452004
(GRCh37)
- Canonical SPDI:
- NC_000016.10:47418092:T:TT
- Gene:
- ITFG1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TT=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
- HGVS:
17.
rs1491379210 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GA>-,GAGA
[Show Flanks]
- Chromosome:
- 16:47445247
(GRCh38)
16:47479158
(GRCh37)
- Canonical SPDI:
- NC_000016.10:47445245:AGA:A,NC_000016.10:47445245:AGA:AGAGA
- Gene:
- ITFG1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
AGAGA=0./0
(
ALFA)
-=0.00004/3
(GnomAD)
- HGVS:
18.
rs1491373059 has merged into rs1329375114 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTT>-,T,TT,TTTT
[Show Flanks]
- Chromosome:
- 16:47193232
(GRCh38)
16:47227143
(GRCh37)
- Canonical SPDI:
- NC_000016.10:47193221:TTTTTTTTTTTTT:TTTTTTTTTT,NC_000016.10:47193221:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000016.10:47193221:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000016.10:47193221:TTTTTTTTTTTTT:TTTTTTTTTTTTTT
- Gene:
- ITFG1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTT=0./0
(
ALFA)
-=0.006457/1709
(TOPMED)
-=0.015/9
(NorthernSweden)
- HGVS:
19.
rs1491370211 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 16:47403761
(GRCh38)
16:47437672
(GRCh37)
- Canonical SPDI:
- NC_000016.10:47403760:TA:
- Gene:
- ITFG1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.00001/1
(GnomAD)
- HGVS:
20.
rs1491333464 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 16:47205854
(GRCh38)
16:47239765
(GRCh37)
- Canonical SPDI:
- NC_000016.10:47205852:TAT:T
- Gene:
- ITFG1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
-=0.000119/14
(GnomAD)
- HGVS: