Links from Gene
Items: 1 to 20 of 1000
1.
rs1491581579 has merged into rs746304675 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 1:35365250
(GRCh38)
1:35830851
(GRCh37)
- Canonical SPDI:
- NC_000001.11:35365239:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:35365239:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:35365239:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:35365239:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:35365239:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:35365239:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:35365239:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:35365239:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:35365239:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:35365239:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:35365239:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:35365239:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:35365239:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:35365239:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:35365239:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:35365239:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:35365239:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:35365239:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:35365239:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:35365239:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:35365239:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:35365239:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:35365239:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:35365239:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:35365239:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:35365239:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:35365239:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:35365239:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:35365239:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- ZMYM4 (Varview), ZMYM4-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTT=0./0
(
ALFA)
-=0.375/15
(GENOME_DK)
- HGVS:
NC_000001.11:g.35365250_35365263del, NC_000001.11:g.35365251_35365263del, NC_000001.11:g.35365252_35365263del, NC_000001.11:g.35365253_35365263del, NC_000001.11:g.35365254_35365263del, NC_000001.11:g.35365256_35365263del, NC_000001.11:g.35365257_35365263del, NC_000001.11:g.35365258_35365263del, NC_000001.11:g.35365259_35365263del, NC_000001.11:g.35365260_35365263del, NC_000001.11:g.35365261_35365263del, NC_000001.11:g.35365262_35365263del, NC_000001.11:g.35365263del, NC_000001.11:g.35365263dup, NC_000001.11:g.35365262_35365263dup, NC_000001.11:g.35365261_35365263dup, NC_000001.11:g.35365260_35365263dup, NC_000001.11:g.35365259_35365263dup, NC_000001.11:g.35365258_35365263dup, NC_000001.11:g.35365257_35365263dup, NC_000001.11:g.35365256_35365263dup, NC_000001.11:g.35365255_35365263dup, NC_000001.11:g.35365245_35365263dup, NC_000001.11:g.35365244_35365263dup, NC_000001.11:g.35365243_35365263dup, NC_000001.11:g.35365241_35365263dup, NC_000001.11:g.35365240_35365263dup, NC_000001.11:g.35365263_35365264insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.35365263_35365264insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.35830851_35830864del, NC_000001.10:g.35830852_35830864del, NC_000001.10:g.35830853_35830864del, NC_000001.10:g.35830854_35830864del, NC_000001.10:g.35830855_35830864del, NC_000001.10:g.35830857_35830864del, NC_000001.10:g.35830858_35830864del, NC_000001.10:g.35830859_35830864del, NC_000001.10:g.35830860_35830864del, NC_000001.10:g.35830861_35830864del, NC_000001.10:g.35830862_35830864del, NC_000001.10:g.35830863_35830864del, NC_000001.10:g.35830864del, NC_000001.10:g.35830864dup, NC_000001.10:g.35830863_35830864dup, NC_000001.10:g.35830862_35830864dup, NC_000001.10:g.35830861_35830864dup, NC_000001.10:g.35830860_35830864dup, NC_000001.10:g.35830859_35830864dup, NC_000001.10:g.35830858_35830864dup, NC_000001.10:g.35830857_35830864dup, NC_000001.10:g.35830856_35830864dup, NC_000001.10:g.35830846_35830864dup, NC_000001.10:g.35830845_35830864dup, NC_000001.10:g.35830844_35830864dup, NC_000001.10:g.35830842_35830864dup, NC_000001.10:g.35830841_35830864dup, NC_000001.10:g.35830864_35830865insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.35830864_35830865insTTTTTTTTTTTTTTTTTTTTTTTTTT
4.
rs1491550453 has merged into rs200690605 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTT>-,TT,TTT,TTTT,TTTTTT,TTTTTTT
[Show Flanks]
- Chromosome:
- 1:35367230
(GRCh38)
1:35832831
(GRCh37)
- Canonical SPDI:
- NC_000001.11:35367220:TTTTTTTTTTTTTT:TTTTTTTTT,NC_000001.11:35367220:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:35367220:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:35367220:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:35367220:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:35367220:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT
- Gene:
- ZMYM4 (Varview), ZMYM4-AS1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTT=0./0
(
ALFA)
T=0.01833/11
(NorthernSweden)
- HGVS:
NC_000001.11:g.35367230_35367234del, NC_000001.11:g.35367232_35367234del, NC_000001.11:g.35367233_35367234del, NC_000001.11:g.35367234del, NC_000001.11:g.35367234dup, NC_000001.11:g.35367233_35367234dup, NC_000001.10:g.35832831_35832835del, NC_000001.10:g.35832833_35832835del, NC_000001.10:g.35832834_35832835del, NC_000001.10:g.35832835del, NC_000001.10:g.35832835dup, NC_000001.10:g.35832834_35832835dup
5.
rs1491548488 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 1:35346650
(GRCh38)
1:35812251
(GRCh37)
- Canonical SPDI:
- NC_000001.11:35346649:CA:
- Gene:
- ZMYM4 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.00126/15
(
ALFA)
-=0.00302/85
(TOMMO)
- HGVS:
7.
rs1491481450 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 1:35389769
(GRCh38)
1:35855371
(GRCh37)
- Canonical SPDI:
- NC_000001.11:35389769::G
- Gene:
- ZMYM4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000009/1
(GnomAD)
- HGVS:
8.
rs1491460926 has merged into rs1553179029 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATATAT>-,ATAT,ATATATAT,ATATATATAT
[Show Flanks]
- Chromosome:
- 1:35389777
(GRCh38)
1:35855378
(GRCh37)
- Canonical SPDI:
- NC_000001.11:35389768:ATATATATATATAT:ATATATAT,NC_000001.11:35389768:ATATATATATATAT:ATATATATATAT,NC_000001.11:35389768:ATATATATATATAT:ATATATATATATATAT,NC_000001.11:35389768:ATATATATATATAT:ATATATATATATATATAT
- Gene:
- ZMYM4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATATATATATATATATAT=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
ATAT=0.000179/3
(TOMMO)
-=0.015101/9
(NorthernSweden)
- HGVS:
10.
rs1491423100 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CA
[Show Flanks]
- Chromosome:
- 1:35297475
(GRCh38)
1:35763077
(GRCh37)
- Canonical SPDI:
- NC_000001.11:35297475:CACA:CACACA
- Gene:
- ZMYM4 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
CACACA=0./0
(
ALFA)
CA=0.000008/1
(GnomAD)
- HGVS:
12.
rs1491385621 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 1:35370727
(GRCh38)
1:35836328
(GRCh37)
- Canonical SPDI:
- NC_000001.11:35370726:CT:
- Gene:
- ZMYM4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.00006/5
(GnomAD)
- HGVS:
13.
rs1491343010 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TG
[Show Flanks]
- Chromosome:
- 1:35352260
(GRCh38)
1:35817862
(GRCh37)
- Canonical SPDI:
- NC_000001.11:35352260:G:GTG
- Gene:
- ZMYM4 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency
- MAF:
GT=0.00011/6
(GnomAD)
- HGVS:
14.
rs1491335241 has merged into rs376025575 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GCGCGCGCGC>-,GC,GCGC,GCGCGC,GCGCGCGC,GCGCGCGCGCGC,GCGCGCGCGCGCGC,GCGCGCGCGCGCGCGC,GCGCGCGCGCGCGCGCGC
[Show Flanks]
- Chromosome:
- 1:35352261
(GRCh38)
1:35817862
(GRCh37)
- Canonical SPDI:
- NC_000001.11:35352259:CGCGCGCGCGC:C,NC_000001.11:35352259:CGCGCGCGCGC:CGC,NC_000001.11:35352259:CGCGCGCGCGC:CGCGC,NC_000001.11:35352259:CGCGCGCGCGC:CGCGCGC,NC_000001.11:35352259:CGCGCGCGCGC:CGCGCGCGC,NC_000001.11:35352259:CGCGCGCGCGC:CGCGCGCGCGCGC,NC_000001.11:35352259:CGCGCGCGCGC:CGCGCGCGCGCGCGC,NC_000001.11:35352259:CGCGCGCGCGC:CGCGCGCGCGCGCGCGC,NC_000001.11:35352259:CGCGCGCGCGC:CGCGCGCGCGCGCGCGCGC
- Gene:
- ZMYM4 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CGC=0./0
(
ALFA)
-=0.005/3
(NorthernSweden)
- HGVS:
NC_000001.11:g.35352261_35352270del, NC_000001.11:g.35352261GC[1], NC_000001.11:g.35352261GC[2], NC_000001.11:g.35352261GC[3], NC_000001.11:g.35352261GC[4], NC_000001.11:g.35352261GC[6], NC_000001.11:g.35352261GC[7], NC_000001.11:g.35352261GC[8], NC_000001.11:g.35352261GC[9], NC_000001.10:g.35817862_35817871del, NC_000001.10:g.35817862GC[1], NC_000001.10:g.35817862GC[2], NC_000001.10:g.35817862GC[3], NC_000001.10:g.35817862GC[4], NC_000001.10:g.35817862GC[6], NC_000001.10:g.35817862GC[7], NC_000001.10:g.35817862GC[8], NC_000001.10:g.35817862GC[9]
15.
rs1491304367 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 1:35365263
(GRCh38)
1:35830865
(GRCh37)
- Canonical SPDI:
- NC_000001.11:35365263:A:AA
- Gene:
- ZMYM4 (Varview), ZMYM4-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
AA=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
16.
rs1491290296 has merged into rs71062875 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GC>-,GCGC
[Show Flanks]
- Chromosome:
- 1:35371109
(GRCh38)
1:35836710
(GRCh37)
- Canonical SPDI:
- NC_000001.11:35371106:GCGC:GC,NC_000001.11:35371106:GCGC:GCGCGC
- Gene:
- ZMYM4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GCGCGC=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.092083/1541
(TOMMO)
-=0.295/177
(NorthernSweden)
-=0.322974/28547
(GnomAD)
-=0.375/15
(GENOME_DK)
-=0.470065/1743
(TWINSUK)
- HGVS:
17.
rs1491275520 has merged into rs780202714 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 1:35296851
(GRCh38)
1:35762452
(GRCh37)
- Canonical SPDI:
- NC_000001.11:35296843:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTT,NC_000001.11:35296843:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000001.11:35296843:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:35296843:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:35296843:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:35296843:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:35296843:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:35296843:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:35296843:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:35296843:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:35296843:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:35296843:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:35296843:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:35296843:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:35296843:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:35296843:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:35296843:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:35296843:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:35296843:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:35296843:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:35296843:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:35296843:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:35296843:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:35296843:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:35296843:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:35296843:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:35296843:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:35296843:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:35296843:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:35296843:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:35296843:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:35296843:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:35296843:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:35296843:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:35296843:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:35296843:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:35296843:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:35296843:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- ZMYM4 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000001.11:g.35296851_35296865del, NC_000001.11:g.35296853_35296865del, NC_000001.11:g.35296854_35296865del, NC_000001.11:g.35296855_35296865del, NC_000001.11:g.35296856_35296865del, NC_000001.11:g.35296857_35296865del, NC_000001.11:g.35296858_35296865del, NC_000001.11:g.35296859_35296865del, NC_000001.11:g.35296860_35296865del, NC_000001.11:g.35296861_35296865del, NC_000001.11:g.35296862_35296865del, NC_000001.11:g.35296863_35296865del, NC_000001.11:g.35296864_35296865del, NC_000001.11:g.35296865del, NC_000001.11:g.35296865dup, NC_000001.11:g.35296864_35296865dup, NC_000001.11:g.35296844_35296865T[24]GTTTTTTTTTTTTTTTTTTTTTT[1], NC_000001.11:g.35296863_35296865dup, NC_000001.11:g.35296862_35296865dup, NC_000001.11:g.35296861_35296865dup, NC_000001.11:g.35296860_35296865dup, NC_000001.11:g.35296859_35296865dup, NC_000001.11:g.35296858_35296865dup, NC_000001.11:g.35296857_35296865dup, NC_000001.11:g.35296856_35296865dup, NC_000001.11:g.35296855_35296865dup, NC_000001.11:g.35296853_35296865dup, NC_000001.11:g.35296852_35296865dup, NC_000001.11:g.35296850_35296865dup, NC_000001.11:g.35296849_35296865dup, NC_000001.11:g.35296848_35296865dup, NC_000001.11:g.35296847_35296865dup, NC_000001.11:g.35296846_35296865dup, NC_000001.11:g.35296845_35296865dup, NC_000001.11:g.35296844_35296865dup, NC_000001.11:g.35296865_35296866insTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.35296865_35296866insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.35296865_35296866insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.35762452_35762466del, NC_000001.10:g.35762454_35762466del, NC_000001.10:g.35762455_35762466del, NC_000001.10:g.35762456_35762466del, NC_000001.10:g.35762457_35762466del, NC_000001.10:g.35762458_35762466del, NC_000001.10:g.35762459_35762466del, NC_000001.10:g.35762460_35762466del, NC_000001.10:g.35762461_35762466del, NC_000001.10:g.35762462_35762466del, NC_000001.10:g.35762463_35762466del, NC_000001.10:g.35762464_35762466del, NC_000001.10:g.35762465_35762466del, NC_000001.10:g.35762466del, NC_000001.10:g.35762466dup, NC_000001.10:g.35762465_35762466dup, NC_000001.10:g.35762445_35762466T[24]GTTTTTTTTTTTTTTTTTTTTTT[1], NC_000001.10:g.35762464_35762466dup, NC_000001.10:g.35762463_35762466dup, NC_000001.10:g.35762462_35762466dup, NC_000001.10:g.35762461_35762466dup, NC_000001.10:g.35762460_35762466dup, NC_000001.10:g.35762459_35762466dup, NC_000001.10:g.35762458_35762466dup, NC_000001.10:g.35762457_35762466dup, NC_000001.10:g.35762456_35762466dup, NC_000001.10:g.35762454_35762466dup, NC_000001.10:g.35762453_35762466dup, NC_000001.10:g.35762451_35762466dup, NC_000001.10:g.35762450_35762466dup, NC_000001.10:g.35762449_35762466dup, NC_000001.10:g.35762448_35762466dup, NC_000001.10:g.35762447_35762466dup, NC_000001.10:g.35762446_35762466dup, NC_000001.10:g.35762445_35762466dup, NC_000001.10:g.35762466_35762467insTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.35762466_35762467insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.35762466_35762467insTTTTTTTTTTTTTTTTTTTTTTTTT
18.
rs1491267326 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AC,ACAC,ACACAC,ACGCAC,ACGCACAC,ACGCACACAC,ACGCGCAC,ACGCGCACAC
[Show Flanks]
- Chromosome:
- 1:35352384
(GRCh38)
1:35817986
(GRCh37)
- Canonical SPDI:
- NC_000001.11:35352384:C:CAC,NC_000001.11:35352384:C:CACAC,NC_000001.11:35352384:C:CACACAC,NC_000001.11:35352384:C:CACGCAC,NC_000001.11:35352384:C:CACGCACAC,NC_000001.11:35352384:C:CACGCACACAC,NC_000001.11:35352384:C:CACGCGCAC,NC_000001.11:35352384:C:CACGCGCACAC
- Gene:
- ZMYM4 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CACAC=0./0
(
ALFA)
CACGCACACA=0.000004/1
(TOPMED)
CA=0.000036/0
(TOMMO)
- HGVS:
NC_000001.11:g.35352385_35352386insAC, NC_000001.11:g.35352385_35352386insACAC, NC_000001.11:g.35352386AC[3], NC_000001.11:g.35352385_35352386insACGCAC, NC_000001.11:g.35352385_35352386insACGCACAC, NC_000001.11:g.35352385_35352386insACGCACACAC, NC_000001.11:g.35352385_35352386insACGCGCAC, NC_000001.11:g.35352385_35352386insACGCGCACAC, NC_000001.10:g.35817986_35817987insAC, NC_000001.10:g.35817986_35817987insACAC, NC_000001.10:g.35817987AC[3], NC_000001.10:g.35817986_35817987insACGCAC, NC_000001.10:g.35817986_35817987insACGCACAC, NC_000001.10:g.35817986_35817987insACGCACACAC, NC_000001.10:g.35817986_35817987insACGCGCAC, NC_000001.10:g.35817986_35817987insACGCGCACAC
20.
rs1491152923 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AG>-
[Show Flanks]
- Chromosome:
- 1:35371062
(GRCh38)
1:35836663
(GRCh37)
- Canonical SPDI:
- NC_000001.11:35371061:AG:
- Gene:
- ZMYM4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.000422/5
(
ALFA)
-=0.000616/69
(GnomAD)
-=0.001667/1
(NorthernSweden)
- HGVS: