Links from Gene
Items: 1 to 20 of 1000
1.
rs1491538210 has merged into rs35100326 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTTTT,TTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 10:30997588
(GRCh38)
10:31286517
(GRCh37)
- Canonical SPDI:
- NC_000010.11:30997575:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000010.11:30997575:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000010.11:30997575:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000010.11:30997575:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000010.11:30997575:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000010.11:30997575:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000010.11:30997575:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000010.11:30997575:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- ZNF438 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.48103/2409
(1000Genomes)
- HGVS:
NC_000010.11:g.30997588_30997591del, NC_000010.11:g.30997589_30997591del, NC_000010.11:g.30997590_30997591del, NC_000010.11:g.30997591del, NC_000010.11:g.30997591dup, NC_000010.11:g.30997590_30997591dup, NC_000010.11:g.30997587_30997591dup, NC_000010.11:g.30997577_30997591dup, NC_000010.10:g.31286517_31286520del, NC_000010.10:g.31286518_31286520del, NC_000010.10:g.31286519_31286520del, NC_000010.10:g.31286520del, NC_000010.10:g.31286520dup, NC_000010.10:g.31286519_31286520dup, NC_000010.10:g.31286516_31286520dup, NC_000010.10:g.31286506_31286520dup
3.
rs1491490358 has merged into rs947031672 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 10:30961903
(GRCh38)
10:31250832
(GRCh37)
- Canonical SPDI:
- NC_000010.11:30961892:AAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000010.11:30961892:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000010.11:30961892:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000010.11:30961892:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000010.11:30961892:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:30961892:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000010.11:30961892:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000010.11:30961892:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000010.11:30961892:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000010.11:30961892:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000010.11:30961892:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000010.11:30961892:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:30961892:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:30961892:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:30961892:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:30961892:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:30961892:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:30961892:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- ZNF438 (Varview)
- Functional Consequence:
- intron_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAA=0./0
(
ALFA)
A=0.25/2
(KOREAN)
- HGVS:
NC_000010.11:g.30961903_30961909del, NC_000010.11:g.30961904_30961909del, NC_000010.11:g.30961905_30961909del, NC_000010.11:g.30961906_30961909del, NC_000010.11:g.30961907_30961909del, NC_000010.11:g.30961908_30961909del, NC_000010.11:g.30961909del, NC_000010.11:g.30961909dup, NC_000010.11:g.30961908_30961909dup, NC_000010.11:g.30961907_30961909dup, NC_000010.11:g.30961906_30961909dup, NC_000010.11:g.30961905_30961909dup, NC_000010.11:g.30961904_30961909dup, NC_000010.11:g.30961903_30961909dup, NC_000010.11:g.30961902_30961909dup, NC_000010.11:g.30961901_30961909dup, NC_000010.11:g.30961900_30961909dup, NC_000010.11:g.30961898_30961909dup, NC_000010.10:g.31250832_31250838del, NC_000010.10:g.31250833_31250838del, NC_000010.10:g.31250834_31250838del, NC_000010.10:g.31250835_31250838del, NC_000010.10:g.31250836_31250838del, NC_000010.10:g.31250837_31250838del, NC_000010.10:g.31250838del, NC_000010.10:g.31250838dup, NC_000010.10:g.31250837_31250838dup, NC_000010.10:g.31250836_31250838dup, NC_000010.10:g.31250835_31250838dup, NC_000010.10:g.31250834_31250838dup, NC_000010.10:g.31250833_31250838dup, NC_000010.10:g.31250832_31250838dup, NC_000010.10:g.31250831_31250838dup, NC_000010.10:g.31250830_31250838dup, NC_000010.10:g.31250829_31250838dup, NC_000010.10:g.31250827_31250838dup, XM_047424745.1:c.-7664_-7658del, XM_047424745.1:c.-7663_-7658del, XM_047424745.1:c.-7662_-7658del, XM_047424745.1:c.-7661_-7658del, XM_047424745.1:c.-7660_-7658del, XM_047424745.1:c.-7659_-7658del, XM_047424745.1:c.-7658del, XM_047424745.1:c.-7658dup, XM_047424745.1:c.-7659_-7658dup, XM_047424745.1:c.-7660_-7658dup, XM_047424745.1:c.-7661_-7658dup, XM_047424745.1:c.-7662_-7658dup, XM_047424745.1:c.-7663_-7658dup, XM_047424745.1:c.-7664_-7658dup, XM_047424745.1:c.-7665_-7658dup, XM_047424745.1:c.-7666_-7658dup, XM_047424745.1:c.-7667_-7658dup, XM_047424745.1:c.-7669_-7658dup
5.
rs1491410504 has merged into rs71863439 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 10:30890087
(GRCh38)
10:31179016
(GRCh37)
- Canonical SPDI:
- NC_000010.11:30890083:AAAAAAAAAAAAAAAAAAAA:AAA,NC_000010.11:30890083:AAAAAAAAAAAAAAAAAAAA:AAAAA,NC_000010.11:30890083:AAAAAAAAAAAAAAAAAAAA:AAAAAA,NC_000010.11:30890083:AAAAAAAAAAAAAAAAAAAA:AAAAAAA,NC_000010.11:30890083:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000010.11:30890083:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000010.11:30890083:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000010.11:30890083:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000010.11:30890083:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000010.11:30890083:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:30890083:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000010.11:30890083:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000010.11:30890083:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000010.11:30890083:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000010.11:30890083:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000010.11:30890083:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:30890083:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:30890083:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:30890083:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:30890083:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:30890083:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:30890083:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:30890083:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:30890083:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:30890083:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:30890083:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:30890083:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:30890083:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:30890083:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:30890083:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:30890083:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:30890083:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAA
- Gene:
- ZNF438 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAA=0./0
(
ALFA)
-=0.225/9
(GENOME_DK)
- HGVS:
NC_000010.11:g.30890087_30890103del, NC_000010.11:g.30890089_30890103del, NC_000010.11:g.30890090_30890103del, NC_000010.11:g.30890091_30890103del, NC_000010.11:g.30890093_30890103del, NC_000010.11:g.30890094_30890103del, NC_000010.11:g.30890095_30890103del, NC_000010.11:g.30890096_30890103del, NC_000010.11:g.30890097_30890103del, NC_000010.11:g.30890098_30890103del, NC_000010.11:g.30890100_30890103del, NC_000010.11:g.30890101_30890103del, NC_000010.11:g.30890102_30890103del, NC_000010.11:g.30890103del, NC_000010.11:g.30890103dup, NC_000010.11:g.30890102_30890103dup, NC_000010.11:g.30890101_30890103dup, NC_000010.11:g.30890100_30890103dup, NC_000010.11:g.30890099_30890103dup, NC_000010.11:g.30890098_30890103dup, NC_000010.11:g.30890097_30890103dup, NC_000010.11:g.30890096_30890103dup, NC_000010.11:g.30890095_30890103dup, NC_000010.11:g.30890094_30890103dup, NC_000010.11:g.30890093_30890103dup, NC_000010.11:g.30890092_30890103dup, NC_000010.11:g.30890091_30890103dup, NC_000010.11:g.30890090_30890103dup, NC_000010.11:g.30890089_30890103dup, NC_000010.11:g.30890088_30890103dup, NC_000010.11:g.30890103_30890104insAAAAAAAAAAAAAAAAAAAAAA, NC_000010.11:g.30890084_30890103A[32]CAAAAAAAAAAAAAAAAAAAAA[1], NC_000010.10:g.31179016_31179032del, NC_000010.10:g.31179018_31179032del, NC_000010.10:g.31179019_31179032del, NC_000010.10:g.31179020_31179032del, NC_000010.10:g.31179022_31179032del, NC_000010.10:g.31179023_31179032del, NC_000010.10:g.31179024_31179032del, NC_000010.10:g.31179025_31179032del, NC_000010.10:g.31179026_31179032del, NC_000010.10:g.31179027_31179032del, NC_000010.10:g.31179029_31179032del, NC_000010.10:g.31179030_31179032del, NC_000010.10:g.31179031_31179032del, NC_000010.10:g.31179032del, NC_000010.10:g.31179032dup, NC_000010.10:g.31179031_31179032dup, NC_000010.10:g.31179030_31179032dup, NC_000010.10:g.31179029_31179032dup, NC_000010.10:g.31179028_31179032dup, NC_000010.10:g.31179027_31179032dup, NC_000010.10:g.31179026_31179032dup, NC_000010.10:g.31179025_31179032dup, NC_000010.10:g.31179024_31179032dup, NC_000010.10:g.31179023_31179032dup, NC_000010.10:g.31179022_31179032dup, NC_000010.10:g.31179021_31179032dup, NC_000010.10:g.31179020_31179032dup, NC_000010.10:g.31179019_31179032dup, NC_000010.10:g.31179018_31179032dup, NC_000010.10:g.31179017_31179032dup, NC_000010.10:g.31179032_31179033insAAAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.31179013_31179032A[32]CAAAAAAAAAAAAAAAAAAAAA[1]
6.
rs1491360329 has merged into rs60434764 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTTTT>-,TTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 10:31007282
(GRCh38)
10:31296211
(GRCh37)
- Canonical SPDI:
- NC_000010.11:31007276:TTTTTTTTTTTTTTTTTTTTTT:TTTTT,NC_000010.11:31007276:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000010.11:31007276:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000010.11:31007276:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000010.11:31007276:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000010.11:31007276:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000010.11:31007276:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000010.11:31007276:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000010.11:31007276:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000010.11:31007276:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000010.11:31007276:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000010.11:31007276:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:31007276:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:31007276:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:31007276:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:31007276:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:31007276:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:31007276:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- ZNF438 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTT=0./0
(
ALFA)
-=0.06419/38
(NorthernSweden)
-=0.325/13
(GENOME_DK)
- HGVS:
NC_000010.11:g.31007282_31007298del, NC_000010.11:g.31007285_31007298del, NC_000010.11:g.31007287_31007298del, NC_000010.11:g.31007289_31007298del, NC_000010.11:g.31007290_31007298del, NC_000010.11:g.31007293_31007298del, NC_000010.11:g.31007294_31007298del, NC_000010.11:g.31007295_31007298del, NC_000010.11:g.31007296_31007298del, NC_000010.11:g.31007297_31007298del, NC_000010.11:g.31007298del, NC_000010.11:g.31007298dup, NC_000010.11:g.31007297_31007298dup, NC_000010.11:g.31007296_31007298dup, NC_000010.11:g.31007295_31007298dup, NC_000010.11:g.31007294_31007298dup, NC_000010.11:g.31007292_31007298dup, NC_000010.11:g.31007289_31007298dup, NC_000010.10:g.31296211_31296227del, NC_000010.10:g.31296214_31296227del, NC_000010.10:g.31296216_31296227del, NC_000010.10:g.31296218_31296227del, NC_000010.10:g.31296219_31296227del, NC_000010.10:g.31296222_31296227del, NC_000010.10:g.31296223_31296227del, NC_000010.10:g.31296224_31296227del, NC_000010.10:g.31296225_31296227del, NC_000010.10:g.31296226_31296227del, NC_000010.10:g.31296227del, NC_000010.10:g.31296227dup, NC_000010.10:g.31296226_31296227dup, NC_000010.10:g.31296225_31296227dup, NC_000010.10:g.31296224_31296227dup, NC_000010.10:g.31296223_31296227dup, NC_000010.10:g.31296221_31296227dup, NC_000010.10:g.31296218_31296227dup
7.
rs1491360289 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 10:30938282
(GRCh38)
10:31227212
(GRCh37)
- Canonical SPDI:
- NC_000010.11:30938282::C
- Gene:
- ZNF438 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
10.
rs1491314852 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 10:30890083
(GRCh38)
10:31179012
(GRCh37)
- Canonical SPDI:
- NC_000010.11:30890082:CA:
- Gene:
- ZNF438 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.00059/7
(
ALFA)
-=0.00006/6
(GnomAD)
- HGVS:
12.
rs1491268637 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GTT
[Show Flanks]
- Chromosome:
- 10:31007277
(GRCh38)
10:31296207
(GRCh37)
- Canonical SPDI:
- NC_000010.11:31007277:TT:TTGTT
- Gene:
- ZNF438 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTGTT=0./0
(
ALFA)
TTG=0.000004/1
(TOPMED)
- HGVS:
14.
rs1491216024 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->TA
[Show Flanks]
- Chromosome:
- 10:30982113
(GRCh38)
10:31271043
(GRCh37)
- Canonical SPDI:
- NC_000010.11:30982113::TA
- Gene:
- ZNF438 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TA=0./0
(
ALFA)
TA=0.000039/5
(GnomAD)
- HGVS:
15.
rs1491194119 has merged into rs58422289 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATATATATATATATATATATATATATATATATATATAT>-,AT,ATAT,ATATAT,ATATATAT,ATATATATAT,ATATATATATAT,ATATATATATATAT,ATATATATATATATAT,ATATATATATATATATAT,ATATATATATATATATATAT,ATATATATATATATATATATAT,ATATATATATATATATATATATAT,ATATATATATATATATATATATATAT,ATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT
[Show Flanks]
- Chromosome:
- 10:30874126
(GRCh38)
10:31163055
(GRCh37)
- Canonical SPDI:
- NC_000010.11:30874114:TATATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATAT,NC_000010.11:30874114:TATATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATAT,NC_000010.11:30874114:TATATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATAT,NC_000010.11:30874114:TATATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATAT,NC_000010.11:30874114:TATATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATAT,NC_000010.11:30874114:TATATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATAT,NC_000010.11:30874114:TATATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATAT,NC_000010.11:30874114:TATATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATAT,NC_000010.11:30874114:TATATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATAT,NC_000010.11:30874114:TATATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATAT,NC_000010.11:30874114:TATATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATAT,NC_000010.11:30874114:TATATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATAT,NC_000010.11:30874114:TATATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATAT,NC_000010.11:30874114:TATATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATAT,NC_000010.11:30874114:TATATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATAT,NC_000010.11:30874114:TATATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATAT,NC_000010.11:30874114:TATATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATAT,NC_000010.11:30874114:TATATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATAT,NC_000010.11:30874114:TATATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATAT,NC_000010.11:30874114:TATATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000010.11:30874114:TATATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000010.11:30874114:TATATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000010.11:30874114:TATATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000010.11:30874114:TATATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000010.11:30874114:TATATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000010.11:30874114:TATATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000010.11:30874114:TATATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000010.11:30874114:TATATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000010.11:30874114:TATATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000010.11:30874114:TATATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT
- Gene:
- ZNF438 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TATATATATATAT=0./0
(
ALFA)
TATATATATATATATATATATATATATATATA=0.1845/924
(1000Genomes)
-=0.275/11
(GENOME_DK)
- HGVS:
NC_000010.11:g.30874116AT[5], NC_000010.11:g.30874116AT[6], NC_000010.11:g.30874116AT[7], NC_000010.11:g.30874116AT[8], NC_000010.11:g.30874116AT[9], NC_000010.11:g.30874116AT[10], NC_000010.11:g.30874116AT[11], NC_000010.11:g.30874116AT[12], NC_000010.11:g.30874116AT[13], NC_000010.11:g.30874116AT[14], NC_000010.11:g.30874116AT[15], NC_000010.11:g.30874116AT[16], NC_000010.11:g.30874116AT[17], NC_000010.11:g.30874116AT[18], NC_000010.11:g.30874116AT[19], NC_000010.11:g.30874116AT[20], NC_000010.11:g.30874116AT[21], NC_000010.11:g.30874116AT[22], NC_000010.11:g.30874116AT[23], NC_000010.11:g.30874116AT[25], NC_000010.11:g.30874116AT[26], NC_000010.11:g.30874116AT[27], NC_000010.11:g.30874116AT[28], NC_000010.11:g.30874116AT[29], NC_000010.11:g.30874116AT[30], NC_000010.11:g.30874116AT[31], NC_000010.11:g.30874116AT[32], NC_000010.11:g.30874116AT[33], NC_000010.11:g.30874116AT[34], NC_000010.11:g.30874116AT[35], NC_000010.10:g.31163045AT[5], NC_000010.10:g.31163045AT[6], NC_000010.10:g.31163045AT[7], NC_000010.10:g.31163045AT[8], NC_000010.10:g.31163045AT[9], NC_000010.10:g.31163045AT[10], NC_000010.10:g.31163045AT[11], NC_000010.10:g.31163045AT[12], NC_000010.10:g.31163045AT[13], NC_000010.10:g.31163045AT[14], NC_000010.10:g.31163045AT[15], NC_000010.10:g.31163045AT[16], NC_000010.10:g.31163045AT[17], NC_000010.10:g.31163045AT[18], NC_000010.10:g.31163045AT[19], NC_000010.10:g.31163045AT[20], NC_000010.10:g.31163045AT[21], NC_000010.10:g.31163045AT[22], NC_000010.10:g.31163045AT[23], NC_000010.10:g.31163045AT[25], NC_000010.10:g.31163045AT[26], NC_000010.10:g.31163045AT[27], NC_000010.10:g.31163045AT[28], NC_000010.10:g.31163045AT[29], NC_000010.10:g.31163045AT[30], NC_000010.10:g.31163045AT[31], NC_000010.10:g.31163045AT[32], NC_000010.10:g.31163045AT[33], NC_000010.10:g.31163045AT[34], NC_000010.10:g.31163045AT[35]
16.
rs1491194000 has merged into rs751298192 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTT>-,T,TT,TTT,TTTTT,TTTTTT
[Show Flanks]
- Chromosome:
- 10:30961269
(GRCh38)
10:31250198
(GRCh37)
- Canonical SPDI:
- NC_000010.11:30961266:TTTTTT:TT,NC_000010.11:30961266:TTTTTT:TTT,NC_000010.11:30961266:TTTTTT:TTTT,NC_000010.11:30961266:TTTTTT:TTTTT,NC_000010.11:30961266:TTTTTT:TTTTTTT,NC_000010.11:30961266:TTTTTT:TTTTTTTT
- Gene:
- ZNF438 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,5_prime_UTR_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TT=0./0
(
ALFA)
-=0.11604/68
(NorthernSweden)
- HGVS:
NC_000010.11:g.30961269_30961272del, NC_000010.11:g.30961270_30961272del, NC_000010.11:g.30961271_30961272del, NC_000010.11:g.30961272del, NC_000010.11:g.30961272dup, NC_000010.11:g.30961271_30961272dup, NC_000010.10:g.31250198_31250201del, NC_000010.10:g.31250199_31250201del, NC_000010.10:g.31250200_31250201del, NC_000010.10:g.31250201del, NC_000010.10:g.31250201dup, NC_000010.10:g.31250200_31250201dup, XM_047424745.1:c.-7035_-7032del, XM_047424745.1:c.-7034_-7032del, XM_047424745.1:c.-7033_-7032del, XM_047424745.1:c.-7032del, XM_047424745.1:c.-7032dup, XM_047424745.1:c.-7033_-7032dup
17.
rs1491193009 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 10:30963392
(GRCh38)
10:31252321
(GRCh37)
- Canonical SPDI:
- NC_000010.11:30963391:CA:
- Gene:
- ZNF438 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.02099/249
(
ALFA)
-=0.00178/3
(Korea1K)
-=0.00337/87
(GnomAD)
-=0.00428/120
(TOMMO)
- HGVS:
18.
rs1491118291 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 10:30953670
(GRCh38)
10:31242600
(GRCh37)
- Canonical SPDI:
- NC_000010.11:30953670::C
- Gene:
- ZNF438 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.00003/8
(TOPMED)
C=0.000546/1
(Korea1K)
C=0.000767/17
(GnomAD)
C=0.000992/17
(TOMMO)
- HGVS:
19.
rs1491081811 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AA
[Show Flanks]
- Chromosome:
- 10:30933599
(GRCh38)
10:31222529
(GRCh37)
- Canonical SPDI:
- NC_000010.11:30933599:A:AAA
- Gene:
- ZNF438 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAA=0./0
(
ALFA)
AA=0.000025/3
(GnomAD)
AA=0.000034/9
(TOPMED)
AA=0.000546/1
(Korea1K)
- HGVS:
20.
rs1491080354 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AA
[Show Flanks]
- Chromosome:
- 10:30930652
(GRCh38)
10:31219582
(GRCh37)
- Canonical SPDI:
- NC_000010.11:30930652:AAAAA:AAAAAAA
- Gene:
- ZNF438 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,5_prime_UTR_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
AAAAAAA=0./0
(
ALFA)
AA=0.000007/1
(GnomAD)
- HGVS: