Links from Gene
Items: 1 to 20 of 29455
1.
rs1491566241 has merged into rs35712977 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAA>-,A,AA,AAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 10:26474009
(GRCh38)
10:26762938
(GRCh37)
- Canonical SPDI:
- NC_000010.11:26473999:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000010.11:26473999:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000010.11:26473999:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000010.11:26473999:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000010.11:26473999:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000010.11:26473999:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000010.11:26473999:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000010.11:26473999:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000010.11:26473999:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000010.11:26473999:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000010.11:26473999:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:26473999:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:26473999:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:26473999:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:26473999:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:26473999:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:26473999:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- APBB1IP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAA=0./0
(
ALFA)
-=0.0164/82
(1000Genomes)
- HGVS:
NC_000010.11:g.26474009_26474022del, NC_000010.11:g.26474010_26474022del, NC_000010.11:g.26474011_26474022del, NC_000010.11:g.26474013_26474022del, NC_000010.11:g.26474015_26474022del, NC_000010.11:g.26474016_26474022del, NC_000010.11:g.26474018_26474022del, NC_000010.11:g.26474019_26474022del, NC_000010.11:g.26474020_26474022del, NC_000010.11:g.26474021_26474022del, NC_000010.11:g.26474022del, NC_000010.11:g.26474022dup, NC_000010.11:g.26474021_26474022dup, NC_000010.11:g.26474020_26474022dup, NC_000010.11:g.26474017_26474022dup, NC_000010.11:g.26474016_26474022dup, NC_000010.11:g.26474012_26474022dup, NC_000010.10:g.26762938_26762951del, NC_000010.10:g.26762939_26762951del, NC_000010.10:g.26762940_26762951del, NC_000010.10:g.26762942_26762951del, NC_000010.10:g.26762944_26762951del, NC_000010.10:g.26762945_26762951del, NC_000010.10:g.26762947_26762951del, NC_000010.10:g.26762948_26762951del, NC_000010.10:g.26762949_26762951del, NC_000010.10:g.26762950_26762951del, NC_000010.10:g.26762951del, NC_000010.10:g.26762951dup, NC_000010.10:g.26762950_26762951dup, NC_000010.10:g.26762949_26762951dup, NC_000010.10:g.26762946_26762951dup, NC_000010.10:g.26762945_26762951dup, NC_000010.10:g.26762941_26762951dup
2.
rs1491546552 has merged into rs55948326 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 10:26447384
(GRCh38)
10:26736313
(GRCh37)
- Canonical SPDI:
- NC_000010.11:26447374:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000010.11:26447374:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000010.11:26447374:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000010.11:26447374:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000010.11:26447374:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000010.11:26447374:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:26447374:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000010.11:26447374:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000010.11:26447374:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000010.11:26447374:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000010.11:26447374:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:26447374:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:26447374:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:26447374:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:26447374:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:26447374:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:26447374:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:26447374:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:26447374:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:26447374:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- APBB1IP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000010.11:g.26447384_26447396del, NC_000010.11:g.26447385_26447396del, NC_000010.11:g.26447386_26447396del, NC_000010.11:g.26447387_26447396del, NC_000010.11:g.26447388_26447396del, NC_000010.11:g.26447389_26447396del, NC_000010.11:g.26447390_26447396del, NC_000010.11:g.26447392_26447396del, NC_000010.11:g.26447395_26447396del, NC_000010.11:g.26447396del, NC_000010.11:g.26447396dup, NC_000010.11:g.26447395_26447396dup, NC_000010.11:g.26447394_26447396dup, NC_000010.11:g.26447393_26447396dup, NC_000010.11:g.26447392_26447396dup, NC_000010.11:g.26447391_26447396dup, NC_000010.11:g.26447390_26447396dup, NC_000010.11:g.26447389_26447396dup, NC_000010.11:g.26447388_26447396dup, NC_000010.11:g.26447387_26447396dup, NC_000010.10:g.26736313_26736325del, NC_000010.10:g.26736314_26736325del, NC_000010.10:g.26736315_26736325del, NC_000010.10:g.26736316_26736325del, NC_000010.10:g.26736317_26736325del, NC_000010.10:g.26736318_26736325del, NC_000010.10:g.26736319_26736325del, NC_000010.10:g.26736321_26736325del, NC_000010.10:g.26736324_26736325del, NC_000010.10:g.26736325del, NC_000010.10:g.26736325dup, NC_000010.10:g.26736324_26736325dup, NC_000010.10:g.26736323_26736325dup, NC_000010.10:g.26736322_26736325dup, NC_000010.10:g.26736321_26736325dup, NC_000010.10:g.26736320_26736325dup, NC_000010.10:g.26736319_26736325dup, NC_000010.10:g.26736318_26736325dup, NC_000010.10:g.26736317_26736325dup, NC_000010.10:g.26736316_26736325dup
3.
rs1491545144 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AC>-
[Show Flanks]
- Chromosome:
- 10:26481825
(GRCh38)
10:26770754
(GRCh37)
- Canonical SPDI:
- NC_000010.11:26481824:AC:
- Gene:
- APBB1IP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000034/4
(GnomAD)
- HGVS:
6.
rs1491437042 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CG
[Show Flanks]
- Chromosome:
- 10:26481825
(GRCh38)
10:26770755
(GRCh37)
- Canonical SPDI:
- NC_000010.11:26481825:CG:CGCG
- Gene:
- APBB1IP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
CGCG=0./0
(
ALFA)
CG=0.000019/2
(GnomAD)
- HGVS:
7.
rs1491428920 has merged into rs58025187 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ACACACAC>-,AC,ACAC,ACACAC,ACACACACAC,ACACACACACAC,ACACACACACACAC,ACACACACACACACAC,ACACACACACACACACAC,ACACACACACACACACACAC,ACACACACACACACACACACAC,ACACACACACACACACACACACAC,ACACACACACACACACACACACACAC
[Show Flanks]
- Chromosome:
- 10:26558161
(GRCh38)
10:26847090
(GRCh37)
- Canonical SPDI:
- NC_000010.11:26558140:ACACACACACACACACACACACACACAC:ACACACACACACACACACAC,NC_000010.11:26558140:ACACACACACACACACACACACACACAC:ACACACACACACACACACACAC,NC_000010.11:26558140:ACACACACACACACACACACACACACAC:ACACACACACACACACACACACAC,NC_000010.11:26558140:ACACACACACACACACACACACACACAC:ACACACACACACACACACACACACAC,NC_000010.11:26558140:ACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACAC,NC_000010.11:26558140:ACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACAC,NC_000010.11:26558140:ACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACAC,NC_000010.11:26558140:ACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACAC,NC_000010.11:26558140:ACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACAC,NC_000010.11:26558140:ACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACAC,NC_000010.11:26558140:ACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACAC,NC_000010.11:26558140:ACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACAC,NC_000010.11:26558140:ACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACAC
- Gene:
- APBB1IP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACACACACACACACACACACAC=0./0
(
ALFA)
- HGVS:
NC_000010.11:g.26558141AC[10], NC_000010.11:g.26558141AC[11], NC_000010.11:g.26558141AC[12], NC_000010.11:g.26558141AC[13], NC_000010.11:g.26558141AC[15], NC_000010.11:g.26558141AC[16], NC_000010.11:g.26558141AC[17], NC_000010.11:g.26558141AC[18], NC_000010.11:g.26558141AC[19], NC_000010.11:g.26558141AC[20], NC_000010.11:g.26558141AC[21], NC_000010.11:g.26558141AC[22], NC_000010.11:g.26558141AC[23], NC_000010.10:g.26847070AC[10], NC_000010.10:g.26847070AC[11], NC_000010.10:g.26847070AC[12], NC_000010.10:g.26847070AC[13], NC_000010.10:g.26847070AC[15], NC_000010.10:g.26847070AC[16], NC_000010.10:g.26847070AC[17], NC_000010.10:g.26847070AC[18], NC_000010.10:g.26847070AC[19], NC_000010.10:g.26847070AC[20], NC_000010.10:g.26847070AC[21], NC_000010.10:g.26847070AC[22], NC_000010.10:g.26847070AC[23]
8.
rs1491421338 has merged into rs764573338 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTCTTCTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTCTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 10:26561074
(GRCh38)
10:26850003
(GRCh37)
- Canonical SPDI:
- NC_000010.11:26561064:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000010.11:26561064:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000010.11:26561064:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000010.11:26561064:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000010.11:26561064:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000010.11:26561064:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000010.11:26561064:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000010.11:26561064:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000010.11:26561064:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000010.11:26561064:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000010.11:26561064:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000010.11:26561064:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000010.11:26561064:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000010.11:26561064:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:26561064:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:26561064:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:26561064:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:26561064:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTCTTCTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:26561064:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:26561064:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:26561064:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:26561064:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:26561064:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:26561064:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:26561064:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:26561064:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:26561064:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:26561064:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:26561064:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:26561064:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:26561064:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:26561064:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:26561064:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:26561064:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:26561064:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:26561064:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:26561064:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:26561064:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:26561064:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:26561064:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:26561064:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:26561064:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:26561064:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:26561064:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:26561064:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:26561064:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:26561064:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:26561064:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:26561064:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:26561064:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:26561064:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:26561064:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:26561064:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:26561064:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:26561064:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:26561064:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:26561064:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:26561064:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- APBB1IP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTT=0./0
(
ALFA)
TTTTTTTTTTTT=0./0
(GENOME_DK)
-=0.000015/4
(TOPMED)
- HGVS:
NC_000010.11:g.26561074_26561088del, NC_000010.11:g.26561075_26561088del, NC_000010.11:g.26561076_26561088del, NC_000010.11:g.26561077_26561088del, NC_000010.11:g.26561078_26561088del, NC_000010.11:g.26561079_26561088del, NC_000010.11:g.26561080_26561088del, NC_000010.11:g.26561081_26561088del, NC_000010.11:g.26561082_26561088del, NC_000010.11:g.26561083_26561088del, NC_000010.11:g.26561084_26561088del, NC_000010.11:g.26561085_26561088del, NC_000010.11:g.26561086_26561088del, NC_000010.11:g.26561087_26561088del, NC_000010.11:g.26561088del, NC_000010.11:g.26561088dup, NC_000010.11:g.26561087_26561088dup, NC_000010.11:g.26561065_26561088T[26]CTT[2]T[24], NC_000010.11:g.26561086_26561088dup, NC_000010.11:g.26561085_26561088dup, NC_000010.11:g.26561065_26561088T[28]CTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000010.11:g.26561084_26561088dup, NC_000010.11:g.26561065_26561088T[30]CTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000010.11:g.26561082_26561088dup, NC_000010.11:g.26561081_26561088dup, NC_000010.11:g.26561065_26561088T[32]CTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000010.11:g.26561080_26561088dup, NC_000010.11:g.26561079_26561088dup, NC_000010.11:g.26561078_26561088dup, NC_000010.11:g.26561077_26561088dup, NC_000010.11:g.26561076_26561088dup, NC_000010.11:g.26561075_26561088dup, NC_000010.11:g.26561065_26561088T[38]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000010.11:g.26561074_26561088dup, NC_000010.11:g.26561073_26561088dup, NC_000010.11:g.26561072_26561088dup, NC_000010.11:g.26561065_26561088T[41]CTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000010.11:g.26561071_26561088dup, NC_000010.11:g.26561070_26561088dup, NC_000010.11:g.26561069_26561088dup, NC_000010.11:g.26561068_26561088dup, NC_000010.11:g.26561067_26561088dup, NC_000010.11:g.26561066_26561088dup, NC_000010.11:g.26561065_26561088dup, NC_000010.11:g.26561088_26561089insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.26561088_26561089insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.26561088_26561089insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.26561088_26561089insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.26561088_26561089insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.26561088_26561089insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.26561088_26561089insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.26561088_26561089insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.26561088_26561089insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.26561088_26561089insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.26561088_26561089insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.26561088_26561089insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.26561088_26561089insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.26561088_26561089insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.26850003_26850017del, NC_000010.10:g.26850004_26850017del, NC_000010.10:g.26850005_26850017del, NC_000010.10:g.26850006_26850017del, NC_000010.10:g.26850007_26850017del, NC_000010.10:g.26850008_26850017del, NC_000010.10:g.26850009_26850017del, NC_000010.10:g.26850010_26850017del, NC_000010.10:g.26850011_26850017del, NC_000010.10:g.26850012_26850017del, NC_000010.10:g.26850013_26850017del, NC_000010.10:g.26850014_26850017del, NC_000010.10:g.26850015_26850017del, NC_000010.10:g.26850016_26850017del, NC_000010.10:g.26850017del, NC_000010.10:g.26850017dup, NC_000010.10:g.26850016_26850017dup, NC_000010.10:g.26849994_26850017T[26]CTT[2]T[24], NC_000010.10:g.26850015_26850017dup, NC_000010.10:g.26850014_26850017dup, NC_000010.10:g.26849994_26850017T[28]CTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000010.10:g.26850013_26850017dup, NC_000010.10:g.26849994_26850017T[30]CTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000010.10:g.26850011_26850017dup, NC_000010.10:g.26850010_26850017dup, NC_000010.10:g.26849994_26850017T[32]CTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000010.10:g.26850009_26850017dup, NC_000010.10:g.26850008_26850017dup, NC_000010.10:g.26850007_26850017dup, NC_000010.10:g.26850006_26850017dup, NC_000010.10:g.26850005_26850017dup, NC_000010.10:g.26850004_26850017dup, NC_000010.10:g.26849994_26850017T[38]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000010.10:g.26850003_26850017dup, NC_000010.10:g.26850002_26850017dup, NC_000010.10:g.26850001_26850017dup, NC_000010.10:g.26849994_26850017T[41]CTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000010.10:g.26850000_26850017dup, NC_000010.10:g.26849999_26850017dup, NC_000010.10:g.26849998_26850017dup, NC_000010.10:g.26849997_26850017dup, NC_000010.10:g.26849996_26850017dup, NC_000010.10:g.26849995_26850017dup, NC_000010.10:g.26849994_26850017dup, NC_000010.10:g.26850017_26850018insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.26850017_26850018insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.26850017_26850018insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.26850017_26850018insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.26850017_26850018insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.26850017_26850018insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.26850017_26850018insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.26850017_26850018insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.26850017_26850018insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.26850017_26850018insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.26850017_26850018insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.26850017_26850018insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.26850017_26850018insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.26850017_26850018insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
10.
rs1491407516 has merged into rs1416259240 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TATA>-,TA,TATATA
[Show Flanks]
- Chromosome:
- 10:26496000
(GRCh38)
10:26784929
(GRCh37)
- Canonical SPDI:
- NC_000010.11:26495991:TATATATATATA:TATATATA,NC_000010.11:26495991:TATATATATATA:TATATATATA,NC_000010.11:26495991:TATATATATATA:TATATATATATATA
- Gene:
- APBB1IP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TATATATATATATA=0./0
(
ALFA)
TA=0.00007/1
(TOMMO)
TA=0.0011/2
(Korea1K)
- HGVS:
11.
rs1491381760 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 10:26558139
(GRCh38)
10:26847069
(GRCh37)
- Canonical SPDI:
- NC_000010.11:26558139::C
- Gene:
- APBB1IP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.00023/1
(
ALFA)
C=0.00024/23
(GnomAD)
- HGVS:
12.
rs1491381670 has merged into rs11403116 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTT>-,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 10:26491771
(GRCh38)
10:26780700
(GRCh37)
- Canonical SPDI:
- NC_000010.11:26491759:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000010.11:26491759:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000010.11:26491759:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000010.11:26491759:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000010.11:26491759:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000010.11:26491759:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000010.11:26491759:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:26491759:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:26491759:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:26491759:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- APBB1IP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.000011/3
(TOPMED)
- HGVS:
NC_000010.11:g.26491771_26491778del, NC_000010.11:g.26491776_26491778del, NC_000010.11:g.26491777_26491778del, NC_000010.11:g.26491778del, NC_000010.11:g.26491778dup, NC_000010.11:g.26491777_26491778dup, NC_000010.11:g.26491776_26491778dup, NC_000010.11:g.26491775_26491778dup, NC_000010.11:g.26491774_26491778dup, NC_000010.11:g.26491771_26491778dup, NC_000010.10:g.26780700_26780707del, NC_000010.10:g.26780705_26780707del, NC_000010.10:g.26780706_26780707del, NC_000010.10:g.26780707del, NC_000010.10:g.26780707dup, NC_000010.10:g.26780706_26780707dup, NC_000010.10:g.26780705_26780707dup, NC_000010.10:g.26780704_26780707dup, NC_000010.10:g.26780703_26780707dup, NC_000010.10:g.26780700_26780707dup
13.
rs1491361586 has merged into rs895511347 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 10:26497733
(GRCh38)
10:26786662
(GRCh37)
- Canonical SPDI:
- NC_000010.11:26497721:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000010.11:26497721:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000010.11:26497721:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000010.11:26497721:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000010.11:26497721:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000010.11:26497721:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000010.11:26497721:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000010.11:26497721:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000010.11:26497721:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000010.11:26497721:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:26497721:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:26497721:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:26497721:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:26497721:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:26497721:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:26497721:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:26497721:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:26497721:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:26497721:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:26497721:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:26497721:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- APBB1IP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTT=0./0
(
ALFA)
- HGVS:
NC_000010.11:g.26497733_26497744del, NC_000010.11:g.26497735_26497744del, NC_000010.11:g.26497736_26497744del, NC_000010.11:g.26497737_26497744del, NC_000010.11:g.26497738_26497744del, NC_000010.11:g.26497739_26497744del, NC_000010.11:g.26497741_26497744del, NC_000010.11:g.26497742_26497744del, NC_000010.11:g.26497743_26497744del, NC_000010.11:g.26497744del, NC_000010.11:g.26497744dup, NC_000010.11:g.26497743_26497744dup, NC_000010.11:g.26497742_26497744dup, NC_000010.11:g.26497741_26497744dup, NC_000010.11:g.26497738_26497744dup, NC_000010.11:g.26497736_26497744dup, NC_000010.11:g.26497733_26497744dup, NC_000010.11:g.26497723_26497744dup, NC_000010.11:g.26497722_26497744dup, NC_000010.11:g.26497744_26497745insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.26497744_26497745insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.26786662_26786673del, NC_000010.10:g.26786664_26786673del, NC_000010.10:g.26786665_26786673del, NC_000010.10:g.26786666_26786673del, NC_000010.10:g.26786667_26786673del, NC_000010.10:g.26786668_26786673del, NC_000010.10:g.26786670_26786673del, NC_000010.10:g.26786671_26786673del, NC_000010.10:g.26786672_26786673del, NC_000010.10:g.26786673del, NC_000010.10:g.26786673dup, NC_000010.10:g.26786672_26786673dup, NC_000010.10:g.26786671_26786673dup, NC_000010.10:g.26786670_26786673dup, NC_000010.10:g.26786667_26786673dup, NC_000010.10:g.26786665_26786673dup, NC_000010.10:g.26786662_26786673dup, NC_000010.10:g.26786652_26786673dup, NC_000010.10:g.26786651_26786673dup, NC_000010.10:g.26786673_26786674insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.26786673_26786674insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
14.
rs1491353257 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-
[Show Flanks]
- Chromosome:
- 10:26558140
(GRCh38)
10:26847069
(GRCh37)
- Canonical SPDI:
- NC_000010.11:26558138:AAA:A
- Gene:
- APBB1IP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
-=0.00002/2
(GnomAD)
- HGVS:
15.
rs1491351309 has merged into rs60855722 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GGGG>-,G,GG,GGG,GGGGG,GGGGGG,GGGGGGG,GGGGGGGG,GGGGGGGGG,GGGGGGGGGGG,GGGGGGGGGGGG,GGGGGGGGGGGGGG,GGGGGGGGGGGGGGG
[Show Flanks]
- Chromosome:
- 10:26506259
(GRCh38)
10:26795188
(GRCh37)
- Canonical SPDI:
- NC_000010.11:26506250:GGGGGGGGGGGG:GGGGGGGG,NC_000010.11:26506250:GGGGGGGGGGGG:GGGGGGGGG,NC_000010.11:26506250:GGGGGGGGGGGG:GGGGGGGGGG,NC_000010.11:26506250:GGGGGGGGGGGG:GGGGGGGGGGG,NC_000010.11:26506250:GGGGGGGGGGGG:GGGGGGGGGGGGG,NC_000010.11:26506250:GGGGGGGGGGGG:GGGGGGGGGGGGGG,NC_000010.11:26506250:GGGGGGGGGGGG:GGGGGGGGGGGGGGG,NC_000010.11:26506250:GGGGGGGGGGGG:GGGGGGGGGGGGGGGG,NC_000010.11:26506250:GGGGGGGGGGGG:GGGGGGGGGGGGGGGGG,NC_000010.11:26506250:GGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGG,NC_000010.11:26506250:GGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGG,NC_000010.11:26506250:GGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGG,NC_000010.11:26506250:GGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGG
- Gene:
- APBB1IP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000010.11:g.26506259_26506262del, NC_000010.11:g.26506260_26506262del, NC_000010.11:g.26506261_26506262del, NC_000010.11:g.26506262del, NC_000010.11:g.26506262dup, NC_000010.11:g.26506261_26506262dup, NC_000010.11:g.26506260_26506262dup, NC_000010.11:g.26506259_26506262dup, NC_000010.11:g.26506258_26506262dup, NC_000010.11:g.26506256_26506262dup, NC_000010.11:g.26506255_26506262dup, NC_000010.11:g.26506253_26506262dup, NC_000010.11:g.26506252_26506262dup, NC_000010.10:g.26795188_26795191del, NC_000010.10:g.26795189_26795191del, NC_000010.10:g.26795190_26795191del, NC_000010.10:g.26795191del, NC_000010.10:g.26795191dup, NC_000010.10:g.26795190_26795191dup, NC_000010.10:g.26795189_26795191dup, NC_000010.10:g.26795188_26795191dup, NC_000010.10:g.26795187_26795191dup, NC_000010.10:g.26795185_26795191dup, NC_000010.10:g.26795184_26795191dup, NC_000010.10:g.26795182_26795191dup, NC_000010.10:g.26795181_26795191dup
17.
rs1491326238 has merged into rs35115529 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 10:26513716
(GRCh38)
10:26802645
(GRCh37)
- Canonical SPDI:
- NC_000010.11:26513704:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000010.11:26513704:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000010.11:26513704:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000010.11:26513704:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000010.11:26513704:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000010.11:26513704:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000010.11:26513704:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- APBB1IP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.4001/1542
(1000Genomes)
- HGVS:
NC_000010.11:g.26513716_26513718del, NC_000010.11:g.26513717_26513718del, NC_000010.11:g.26513718del, NC_000010.11:g.26513718dup, NC_000010.11:g.26513717_26513718dup, NC_000010.11:g.26513716_26513718dup, NC_000010.11:g.26513709_26513718dup, NC_000010.10:g.26802645_26802647del, NC_000010.10:g.26802646_26802647del, NC_000010.10:g.26802647del, NC_000010.10:g.26802647dup, NC_000010.10:g.26802646_26802647dup, NC_000010.10:g.26802645_26802647dup, NC_000010.10:g.26802638_26802647dup
18.
rs1491295491 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CG>-
[Show Flanks]
- Chromosome:
- 10:26481826
(GRCh38)
10:26770755
(GRCh37)
- Canonical SPDI:
- NC_000010.11:26481825:CG:
- Gene:
- APBB1IP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000154/16
(GnomAD)
-=0.000177/3
(TOMMO)
- HGVS:
19.
rs1491293293 has merged into rs10689050 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CG>-
[Show Flanks]
- Chromosome:
- 10:26558168
(GRCh38)
10:26847097
(GRCh37)
- Canonical SPDI:
- NC_000010.11:26558167:CG:
- Gene:
- APBB1IP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
-=0.000142/2
(TOMMO)
-=0.000546/1
(Korea1K)
- HGVS:
20.
rs1491283421 has merged into rs147913300 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TC>-,TCTC,TCTCTC,TCTCTCTC,TCTCTCTCTC,TCTCTCTCTCTC
[Show Flanks]
- Chromosome:
- 10:26510734
(GRCh38)
10:26799663
(GRCh37)
- Canonical SPDI:
- NC_000010.11:26510731:TCTC:TC,NC_000010.11:26510731:TCTC:TCTCTC,NC_000010.11:26510731:TCTC:TCTCTCTC,NC_000010.11:26510731:TCTC:TCTCTCTCTC,NC_000010.11:26510731:TCTC:TCTCTCTCTCTC,NC_000010.11:26510731:TCTC:TCTCTCTCTCTCTC
- Gene:
- APBB1IP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TCTCTC=0./0
(
ALFA)
TCTCTC=0.01541/69
(Estonian)
- HGVS:
NC_000010.11:g.26510732TC[1], NC_000010.11:g.26510732TC[3], NC_000010.11:g.26510732TC[4], NC_000010.11:g.26510732TC[5], NC_000010.11:g.26510732TC[6], NC_000010.11:g.26510732TC[7], NC_000010.10:g.26799661TC[1], NC_000010.10:g.26799661TC[3], NC_000010.10:g.26799661TC[4], NC_000010.10:g.26799661TC[5], NC_000010.10:g.26799661TC[6], NC_000010.10:g.26799661TC[7]