Links from Gene
Items: 1 to 20 of 11079
2.
rs1491559236 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- X:100917681
(GRCh38)
X:100172671
(GRCh37)
- Canonical SPDI:
- NC_000023.11:100917681:G:GG
- Gene:
- XKRX (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
G=0.00034/4
(TOMMO)
- HGVS:
3.
rs1491536744 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GAAAGAAAGAAAGAAAGAAAGA
[Show Flanks]
- Chromosome:
- X:100917635
(GRCh38)
X:100172625
(GRCh37)
- Canonical SPDI:
- NC_000023.11:100917635:AGAAAGAAAGAAAGAAAGAAAGA:AGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGA
- Gene:
- XKRX (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
AGAAAGAAAGAAAGAAAGAAAG=0.00003/1
(GnomAD)
- HGVS:
4.
rs1491531802 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->ACAA,ACAT,AT
[Show Flanks]
- Chromosome:
- X:100916110
(GRCh38)
X:100171100
(GRCh37)
- Canonical SPDI:
- NC_000023.11:100916110::ACAA,NC_000023.11:100916110::ACAT,NC_000023.11:100916110::AT
- Gene:
- XKRX (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACAT=0./0
(
ALFA)
AT=0.000011/3
(TOPMED)
- HGVS:
6.
rs1491464348 has merged into rs745938618 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTT>-,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- X:100923848
(GRCh38)
X:100178837
(GRCh37)
- Canonical SPDI:
- NC_000023.11:100923837:TTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000023.11:100923837:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000023.11:100923837:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000023.11:100923837:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000023.11:100923837:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000023.11:100923837:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000023.11:100923837:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000023.11:100923837:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000023.11:100923837:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:100923837:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:100923837:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:100923837:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- XKRX (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
T=0.35/14
(GENOME_DK)
- HGVS:
NC_000023.11:g.100923848_100923854del, NC_000023.11:g.100923852_100923854del, NC_000023.11:g.100923853_100923854del, NC_000023.11:g.100923854del, NC_000023.11:g.100923854dup, NC_000023.11:g.100923853_100923854dup, NC_000023.11:g.100923852_100923854dup, NC_000023.11:g.100923851_100923854dup, NC_000023.11:g.100923850_100923854dup, NC_000023.11:g.100923849_100923854dup, NC_000023.11:g.100923847_100923854dup, NC_000023.11:g.100923846_100923854dup, NC_000023.10:g.100178837_100178843del, NC_000023.10:g.100178841_100178843del, NC_000023.10:g.100178842_100178843del, NC_000023.10:g.100178843del, NC_000023.10:g.100178843dup, NC_000023.10:g.100178842_100178843dup, NC_000023.10:g.100178841_100178843dup, NC_000023.10:g.100178840_100178843dup, NC_000023.10:g.100178839_100178843dup, NC_000023.10:g.100178838_100178843dup, NC_000023.10:g.100178836_100178843dup, NC_000023.10:g.100178835_100178843dup, NG_021224.1:g.10066_10072del, NG_021224.1:g.10070_10072del, NG_021224.1:g.10071_10072del, NG_021224.1:g.10072del, NG_021224.1:g.10072dup, NG_021224.1:g.10071_10072dup, NG_021224.1:g.10070_10072dup, NG_021224.1:g.10069_10072dup, NG_021224.1:g.10068_10072dup, NG_021224.1:g.10067_10072dup, NG_021224.1:g.10065_10072dup, NG_021224.1:g.10064_10072dup
8.
rs1491445884 has merged into rs56903056 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
[Show Flanks]
- Chromosome:
- X:100908127
(GRCh38)
X:100163116
(GRCh37)
- Canonical SPDI:
- NC_000023.11:100908106:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT,NC_000023.11:100908106:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:100908106:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:100908106:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:100908106:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:100908106:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:100908106:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:100908106:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:100908106:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:100908106:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:100908106:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:100908106:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:100908106:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:100908106:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:100908106:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:100908106:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:100908106:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:100908106:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:100908106:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:100908106:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
- Gene:
- XKRX (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GTGTGTGTGTGTGTGTGTGTGT=0./0
(
ALFA)
-=0.5/20
(GENOME_DK)
- HGVS:
NC_000023.11:g.100908107GT[10], NC_000023.11:g.100908107GT[11], NC_000023.11:g.100908107GT[12], NC_000023.11:g.100908107GT[13], NC_000023.11:g.100908107GT[14], NC_000023.11:g.100908107GT[15], NC_000023.11:g.100908107GT[17], NC_000023.11:g.100908107GT[18], NC_000023.11:g.100908107GT[19], NC_000023.11:g.100908107GT[20], NC_000023.11:g.100908107GT[21], NC_000023.11:g.100908107GT[22], NC_000023.11:g.100908107GT[23], NC_000023.11:g.100908107GT[24], NC_000023.11:g.100908107GT[25], NC_000023.11:g.100908107GT[26], NC_000023.11:g.100908107GT[27], NC_000023.11:g.100908107GT[28], NC_000023.11:g.100908107GT[29], NC_000023.11:g.100908107GT[30], NC_000023.10:g.100163096GT[10], NC_000023.10:g.100163096GT[11], NC_000023.10:g.100163096GT[12], NC_000023.10:g.100163096GT[13], NC_000023.10:g.100163096GT[14], NC_000023.10:g.100163096GT[15], NC_000023.10:g.100163096GT[17], NC_000023.10:g.100163096GT[18], NC_000023.10:g.100163096GT[19], NC_000023.10:g.100163096GT[20], NC_000023.10:g.100163096GT[21], NC_000023.10:g.100163096GT[22], NC_000023.10:g.100163096GT[23], NC_000023.10:g.100163096GT[24], NC_000023.10:g.100163096GT[25], NC_000023.10:g.100163096GT[26], NC_000023.10:g.100163096GT[27], NC_000023.10:g.100163096GT[28], NC_000023.10:g.100163096GT[29], NC_000023.10:g.100163096GT[30]
9.
rs1491412490 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->ATGTGT
[Show Flanks]
- Chromosome:
- X:100908107
(GRCh38)
X:100163097
(GRCh37)
- Canonical SPDI:
- NC_000023.11:100908107:TGTGT:TGTGTATGTGT
- Gene:
- XKRX (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
TGTGTATGTGT=0./0
(
ALFA)
TGTGTA=0.00538/2
(GnomAD)
- HGVS:
10.
rs1491397717 has merged into rs1446256296 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GA>-,GAGA
[Show Flanks]
- Chromosome:
- X:100917657
(GRCh38)
X:100172646
(GRCh37)
- Canonical SPDI:
- NC_000023.11:100917655:AGA:A,NC_000023.11:100917655:AGA:AGAGA
- Gene:
- XKRX (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
AG=0.00009/5
(GnomAD)
- HGVS:
12.
rs1491300085 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- X:100917656
(GRCh38)
X:100172646
(GRCh37)
- Canonical SPDI:
- NC_000023.11:100917656:G:GG
- Gene:
- XKRX (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GG=0./0
(
ALFA)
G=0.00004/2
(GnomAD)
- HGVS:
13.
rs1491288663 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GAAAGAAAGAAGGAAAGAAA
[Show Flanks]
- Chromosome:
- X:100917717
(GRCh38)
X:100172707
(GRCh37)
- Canonical SPDI:
- NC_000023.11:100917717:GAAAGAAA:GAAAGAAAGAAAGAAAGAAGGAAAGAAA
- Gene:
- XKRX (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
GAAAGAAAGAAAGAAAGAAG=0.00001/1
(GnomAD)
- HGVS:
16.
rs1491223752 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- X:100917718
(GRCh38)
X:100172707
(GRCh37)
- Canonical SPDI:
- NC_000023.11:100917716:AGA:A
- Gene:
- XKRX (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.001602/19
(
ALFA)
-=0.00001/1
(GnomAD)
-=0.00009/1
(TOMMO)
- HGVS:
17.
rs1491139012 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- X:100920171
(GRCh38)
X:100175160
(GRCh37)
- Canonical SPDI:
- NC_000023.11:100920170:CT:
- Gene:
- XKRX (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.011718/139
(
ALFA)
-=0.013699/3626
(TOPMED)
-=0.015193/57
(1000Genomes)
-=0.015752/1325
(GnomAD)
- HGVS:
18.
rs1491111325 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- X:100891761
(GRCh38)
X:100146751
(GRCh37)
- Canonical SPDI:
- NC_000023.11:100891761:G:GG
- Gene:
- XKRX (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
G=0.00018/12
(GnomAD)
- HGVS:
19.
rs1491080420 has merged into rs1556190722 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CG>-,CGCG
[Show Flanks]
- Chromosome:
- X:100915709
(GRCh38)
X:100170698
(GRCh37)
- Canonical SPDI:
- NC_000023.11:100915707:GCG:G,NC_000023.11:100915707:GCG:GCGCG
- Gene:
- XKRX (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GCGCG=0./0
(
ALFA)
-=0.00004/1
(TOMMO)
- HGVS:
20.
rs1491068365 has merged into rs36011977 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAA>-,AA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- X:100910596
(GRCh38)
X:100165585
(GRCh37)
- Canonical SPDI:
- NC_000023.11:100910585:AAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000023.11:100910585:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000023.11:100910585:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000023.11:100910585:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000023.11:100910585:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000023.11:100910585:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000023.11:100910585:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000023.11:100910585:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- XKRX (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAA=0./0
(
ALFA)
A=0.28212/1065
(1000Genomes)
- HGVS:
NC_000023.11:g.100910596_100910602del, NC_000023.11:g.100910598_100910602del, NC_000023.11:g.100910601_100910602del, NC_000023.11:g.100910602del, NC_000023.11:g.100910602dup, NC_000023.11:g.100910601_100910602dup, NC_000023.11:g.100910600_100910602dup, NC_000023.11:g.100910597_100910602dup, NC_000023.10:g.100165585_100165591del, NC_000023.10:g.100165587_100165591del, NC_000023.10:g.100165590_100165591del, NC_000023.10:g.100165591del, NC_000023.10:g.100165591dup, NC_000023.10:g.100165590_100165591dup, NC_000023.10:g.100165589_100165591dup, NC_000023.10:g.100165586_100165591dup, NG_022683.3:g.83_89del, NG_022683.3:g.85_89del, NG_022683.3:g.88_89del, NG_022683.3:g.89del, NG_022683.3:g.89dup, NG_022683.3:g.88_89dup, NG_022683.3:g.87_89dup, NG_022683.3:g.84_89dup