Links from Gene
Items: 1 to 20 of 1000
1.
rs1491510062 has merged into rs56158505 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ACACACACACAC>-,AC,ACAC,ACACAC,ACACACAC,ACACACACAC,ACACACACACACAC,ACACACACACACACAC,ACACACACACACACACAC,ACACACACACACACACACAC,ACACACACACACACACACACAC,ACACACACACACACACACACACAC,ACACACACACACACACACACACACAC,ACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACAC
[Show Flanks]
- Chromosome:
- X:46505784
(GRCh38)
X:46365219
(GRCh37)
- Canonical SPDI:
- NC_000023.11:46505768:CACACACACACACACACACACACACAC:CACACACACACACAC,NC_000023.11:46505768:CACACACACACACACACACACACACAC:CACACACACACACACAC,NC_000023.11:46505768:CACACACACACACACACACACACACAC:CACACACACACACACACAC,NC_000023.11:46505768:CACACACACACACACACACACACACAC:CACACACACACACACACACAC,NC_000023.11:46505768:CACACACACACACACACACACACACAC:CACACACACACACACACACACAC,NC_000023.11:46505768:CACACACACACACACACACACACACAC:CACACACACACACACACACACACAC,NC_000023.11:46505768:CACACACACACACACACACACACACAC:CACACACACACACACACACACACACACAC,NC_000023.11:46505768:CACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACAC,NC_000023.11:46505768:CACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACAC,NC_000023.11:46505768:CACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACAC,NC_000023.11:46505768:CACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACAC,NC_000023.11:46505768:CACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACAC,NC_000023.11:46505768:CACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACAC,NC_000023.11:46505768:CACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACAC,NC_000023.11:46505768:CACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACAC,NC_000023.11:46505768:CACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACAC,NC_000023.11:46505768:CACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000023.11:46505768:CACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACACAC
- Gene:
- ZNF674 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CACACACACACACACAC=0./0
(
ALFA)
-=0.000042/11
(TOPMED)
-=0.009801/37
(1000Genomes)
- HGVS:
NC_000023.11:g.46505770AC[7], NC_000023.11:g.46505770AC[8], NC_000023.11:g.46505770AC[9], NC_000023.11:g.46505770AC[10], NC_000023.11:g.46505770AC[11], NC_000023.11:g.46505770AC[12], NC_000023.11:g.46505770AC[14], NC_000023.11:g.46505770AC[15], NC_000023.11:g.46505770AC[16], NC_000023.11:g.46505770AC[17], NC_000023.11:g.46505770AC[18], NC_000023.11:g.46505770AC[19], NC_000023.11:g.46505770AC[20], NC_000023.11:g.46505770AC[21], NC_000023.11:g.46505770AC[22], NC_000023.11:g.46505770AC[23], NC_000023.11:g.46505770AC[24], NC_000023.11:g.46505770AC[25], NC_000023.10:g.46365205AC[7], NC_000023.10:g.46365205AC[8], NC_000023.10:g.46365205AC[9], NC_000023.10:g.46365205AC[10], NC_000023.10:g.46365205AC[11], NC_000023.10:g.46365205AC[12], NC_000023.10:g.46365205AC[14], NC_000023.10:g.46365205AC[15], NC_000023.10:g.46365205AC[16], NC_000023.10:g.46365205AC[17], NC_000023.10:g.46365205AC[18], NC_000023.10:g.46365205AC[19], NC_000023.10:g.46365205AC[20], NC_000023.10:g.46365205AC[21], NC_000023.10:g.46365205AC[22], NC_000023.10:g.46365205AC[23], NC_000023.10:g.46365205AC[24], NC_000023.10:g.46365205AC[25], NG_023376.2:g.44664TG[7], NG_023376.2:g.44664TG[8], NG_023376.2:g.44664TG[9], NG_023376.2:g.44664TG[10], NG_023376.2:g.44664TG[11], NG_023376.2:g.44664TG[12], NG_023376.2:g.44664TG[14], NG_023376.2:g.44664TG[15], NG_023376.2:g.44664TG[16], NG_023376.2:g.44664TG[17], NG_023376.2:g.44664TG[18], NG_023376.2:g.44664TG[19], NG_023376.2:g.44664TG[20], NG_023376.2:g.44664TG[21], NG_023376.2:g.44664TG[22], NG_023376.2:g.44664TG[23], NG_023376.2:g.44664TG[24], NG_023376.2:g.44664TG[25]
2.
rs1491500947 has merged into rs749919543 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GA>-,GAAAGA
[Show Flanks]
- Chromosome:
- X:46519253
(GRCh38)
X:46378688
(GRCh37)
- Canonical SPDI:
- NC_000023.11:46519251:AGA:A,NC_000023.11:46519251:AGA:AGAAAGA
- Gene:
- ZNF674 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
AGAA=0.05434/157
(ALSPAC)
AGAA=0.05852/217
(TWINSUK)
- HGVS:
4.
rs1491463035 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A,AA
[Show Flanks]
- Chromosome:
- X:46541359
(GRCh38)
X:46400795
(GRCh37)
- Canonical SPDI:
- NC_000023.11:46541359:A:AA,NC_000023.11:46541359:A:AAA
- Gene:
- ZNF674 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
AAA=0./0
(
ALFA)
A=0.00039/5
(TOMMO)
- HGVS:
5.
rs1491435892 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GGATAGATAGAT
[Show Flanks]
- Chromosome:
- X:46519252
(GRCh38)
X:46378688
(GRCh37)
- Canonical SPDI:
- NC_000023.11:46519252:GATAGATAGAT:GATAGATAGATGGATAGATAGAT
- Gene:
- ZNF674 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
GATAGATAGATGGATAGATAGAT=0./0
(
ALFA)
- HGVS:
7.
rs1491404270 has merged into rs372308686 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT
[Show Flanks]
- Chromosome:
- X:46501680
(GRCh38)
X:46361115
(GRCh37)
- Canonical SPDI:
- NC_000023.11:46501662:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000023.11:46501662:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000023.11:46501662:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000023.11:46501662:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:46501662:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:46501662:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:46501662:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:46501662:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:46501662:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:46501662:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:46501662:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:46501662:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:46501662:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:46501662:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
- Gene:
- ZNF674 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGTGTGTGTGTGTGTGT=0./0
(
ALFA)
TG=0.2/8
(GENOME_DK)
- HGVS:
NC_000023.11:g.46501664GT[8], NC_000023.11:g.46501664GT[9], NC_000023.11:g.46501664GT[10], NC_000023.11:g.46501664GT[11], NC_000023.11:g.46501664GT[13], NC_000023.11:g.46501664GT[14], NC_000023.11:g.46501664GT[15], NC_000023.11:g.46501664GT[16], NC_000023.11:g.46501664GT[17], NC_000023.11:g.46501664GT[18], NC_000023.11:g.46501664GT[19], NC_000023.11:g.46501664GT[20], NC_000023.11:g.46501664GT[21], NC_000023.11:g.46501664GT[22], NC_000023.10:g.46361099GT[8], NC_000023.10:g.46361099GT[9], NC_000023.10:g.46361099GT[10], NC_000023.10:g.46361099GT[11], NC_000023.10:g.46361099GT[13], NC_000023.10:g.46361099GT[14], NC_000023.10:g.46361099GT[15], NC_000023.10:g.46361099GT[16], NC_000023.10:g.46361099GT[17], NC_000023.10:g.46361099GT[18], NC_000023.10:g.46361099GT[19], NC_000023.10:g.46361099GT[20], NC_000023.10:g.46361099GT[21], NC_000023.10:g.46361099GT[22], NG_023376.2:g.48772CA[8], NG_023376.2:g.48772CA[9], NG_023376.2:g.48772CA[10], NG_023376.2:g.48772CA[11], NG_023376.2:g.48772CA[13], NG_023376.2:g.48772CA[14], NG_023376.2:g.48772CA[15], NG_023376.2:g.48772CA[16], NG_023376.2:g.48772CA[17], NG_023376.2:g.48772CA[18], NG_023376.2:g.48772CA[19], NG_023376.2:g.48772CA[20], NG_023376.2:g.48772CA[21], NG_023376.2:g.48772CA[22]
9.
rs1491330854 has merged into rs376743250 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,A
[Show Flanks]
- Chromosome:
- X:46519265
(GRCh38)
X:46378700
(GRCh37)
- Canonical SPDI:
- NC_000023.11:46519263:AAA:A,NC_000023.11:46519263:AAA:AA
- Gene:
- ZNF674 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
-=0.2762/1024
(TWINSUK)
-=0.3022/873
(ALSPAC)
- HGVS:
11.
rs1491247337 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- X:46498722
(GRCh38)
X:46358157
(GRCh37)
- Canonical SPDI:
- NC_000023.11:46498721:TA:
- Gene:
- ZNF674 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Clinical significance:
- uncertain-significance
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.20575/3243
(
ALFA)
-=0.07465/933
(TOMMO)
-=0.24741/19004
(GnomAD)
- HGVS:
12.
rs1491244138 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- X:46498721
(GRCh38)
X:46358156
(GRCh37)
- Canonical SPDI:
- NC_000023.11:46498720:CT:
- Gene:
- ZNF674 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00649/77
(
ALFA)
-=0.00018/2
(TOMMO)
- HGVS:
13.
rs1491042548 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- A>-,AA
[Show Flanks]
- Chromosome:
- X:46532480
(GRCh38)
X:46391915
(GRCh37)
- Canonical SPDI:
- NC_000023.11:46532479:AAAAAA:AAAAA,NC_000023.11:46532479:AAAAAA:AAAAAAA
- Gene:
- ZNF674 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAA=0./0
(
ALFA)
-=0.00021/1
(1000Genomes)
- HGVS:
15.
rs1490828187 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- X:46529640
(GRCh38)
X:46389075
(GRCh37)
- Canonical SPDI:
- NC_000023.11:46529639:G:T
- Gene:
- ZNF674 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000015/4
(TOPMED)
T=0.000031/3
(GnomAD)
- HGVS:
16.
rs1490705665 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- A>-
[Show Flanks]
- Chromosome:
- X:46525304
(GRCh38)
X:46384739
(GRCh37)
- Canonical SPDI:
- NC_000023.11:46525303:AAAAAA:AAAAA
- Gene:
- ZNF674 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAA=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
17.
rs1490657804 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- X:46531165
(GRCh38)
X:46390600
(GRCh37)
- Canonical SPDI:
- NC_000023.11:46531164:G:A
- Gene:
- ZNF674 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000114/12
(GnomAD)
A=0.000298/79
(TOPMED)
- HGVS:
18.
rs1490579036 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- X:46538080
(GRCh38)
X:46397515
(GRCh37)
- Canonical SPDI:
- NC_000023.11:46538079:C:T
- Gene:
- ZNF674 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000033/3
(GnomAD)
- HGVS:
19.
rs1490549348 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- X:46536721
(GRCh38)
X:46396156
(GRCh37)
- Canonical SPDI:
- NC_000023.11:46536720:C:T
- Gene:
- ZNF674 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.00001/1
(GnomAD)
T=0.000046/1
(TOMMO)
- HGVS: