Links from Gene
Items: 1 to 20 of 9966
1.
rs1491575673 has merged into rs1325681219 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAA>-,AA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAGAAAAAAA,AAAAGAAAAAAAAA
[Show Flanks]
- Chromosome:
- 9:121464992
(GRCh38)
9:124227270
(GRCh37)
- Canonical SPDI:
- NC_000009.12:121464988:AAAAAAA:AAA,NC_000009.12:121464988:AAAAAAA:AAAAA,NC_000009.12:121464988:AAAAAAA:AAAAAAAA,NC_000009.12:121464988:AAAAAAA:AAAAAAAAA,NC_000009.12:121464988:AAAAAAA:AAAAAAAAAA,NC_000009.12:121464988:AAAAAAA:AAAAAAAAAAA,NC_000009.12:121464988:AAAAAAA:AAAAAAAAAAAA,NC_000009.12:121464988:AAAAAAA:AAAAAAAAAAAAA,NC_000009.12:121464988:AAAAAAA:AAAAAAAAAAAAAA,NC_000009.12:121464988:AAAAAAA:AAAAAAAAAAAAAAA,NC_000009.12:121464988:AAAAAAA:AAAAAAAAAAAAAAAA,NC_000009.12:121464988:AAAAAAA:AAAAAAAAAAAAAAAAA,NC_000009.12:121464988:AAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000009.12:121464988:AAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000009.12:121464988:AAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000009.12:121464988:AAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000009.12:121464988:AAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:121464988:AAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:121464988:AAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:121464988:AAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:121464988:AAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:121464988:AAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:121464988:AAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:121464988:AAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:121464988:AAAAAAA:AAAAAAAAGAAAAAAA,NC_000009.12:121464988:AAAAAAA:AAAAAAAGAAAAAAAAA
- Gene:
- GGTA1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAA=0.00049/8
(
ALFA)
- HGVS:
NC_000009.12:g.121464992_121464995del, NC_000009.12:g.121464994_121464995del, NC_000009.12:g.121464995dup, NC_000009.12:g.121464994_121464995dup, NC_000009.12:g.121464993_121464995dup, NC_000009.12:g.121464992_121464995dup, NC_000009.12:g.121464991_121464995dup, NC_000009.12:g.121464990_121464995dup, NC_000009.12:g.121464989_121464995dup, NC_000009.12:g.121464995_121464996insAAAAAAAA, NC_000009.12:g.121464995_121464996insAAAAAAAAA, NC_000009.12:g.121464995_121464996insAAAAAAAAAA, NC_000009.12:g.121464995_121464996insAAAAAAAAAAA, NC_000009.12:g.121464995_121464996insAAAAAAAAAAAA, NC_000009.12:g.121464995_121464996insAAAAAAAAAAAAA, NC_000009.12:g.121464995_121464996insAAAAAAAAAAAAAA, NC_000009.12:g.121464995_121464996insAAAAAAAAAAAAAAA, NC_000009.12:g.121464995_121464996insAAAAAAAAAAAAAAAA, NC_000009.12:g.121464995_121464996insAAAAAAAAAAAAAAAAA, NC_000009.12:g.121464995_121464996insAAAAAAAAAAAAAAAAAA, NC_000009.12:g.121464995_121464996insAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.12:g.121464995_121464996insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.12:g.121464995_121464996insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.12:g.121464995_121464996insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.12:g.121464989_121464995A[8]GAAAAAAA[1], NC_000009.12:g.121464989_121464995A[7]GAAAAAAAAA[1], NC_000009.11:g.124227270_124227273del, NC_000009.11:g.124227272_124227273del, NC_000009.11:g.124227273dup, NC_000009.11:g.124227272_124227273dup, NC_000009.11:g.124227271_124227273dup, NC_000009.11:g.124227270_124227273dup, NC_000009.11:g.124227269_124227273dup, NC_000009.11:g.124227268_124227273dup, NC_000009.11:g.124227267_124227273dup, NC_000009.11:g.124227273_124227274insAAAAAAAA, NC_000009.11:g.124227273_124227274insAAAAAAAAA, NC_000009.11:g.124227273_124227274insAAAAAAAAAA, NC_000009.11:g.124227273_124227274insAAAAAAAAAAA, NC_000009.11:g.124227273_124227274insAAAAAAAAAAAA, NC_000009.11:g.124227273_124227274insAAAAAAAAAAAAA, NC_000009.11:g.124227273_124227274insAAAAAAAAAAAAAA, NC_000009.11:g.124227273_124227274insAAAAAAAAAAAAAAA, NC_000009.11:g.124227273_124227274insAAAAAAAAAAAAAAAA, NC_000009.11:g.124227273_124227274insAAAAAAAAAAAAAAAAA, NC_000009.11:g.124227273_124227274insAAAAAAAAAAAAAAAAAA, NC_000009.11:g.124227273_124227274insAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.11:g.124227273_124227274insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.11:g.124227273_124227274insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.11:g.124227273_124227274insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.11:g.124227267_124227273A[8]GAAAAAAA[1], NC_000009.11:g.124227267_124227273A[7]GAAAAAAAAA[1]
3.
rs1491463876 has merged into rs34813039 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAA>-,A,AA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 9:121481691
(GRCh38)
9:124243969
(GRCh37)
- Canonical SPDI:
- NC_000009.12:121481680:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000009.12:121481680:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000009.12:121481680:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000009.12:121481680:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000009.12:121481680:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000009.12:121481680:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000009.12:121481680:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000009.12:121481680:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000009.12:121481680:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000009.12:121481680:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000009.12:121481680:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:121481680:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:121481680:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:121481680:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:121481680:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:121481680:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:121481680:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:121481680:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- GGTA1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000009.12:g.121481691_121481703del, NC_000009.12:g.121481692_121481703del, NC_000009.12:g.121481693_121481703del, NC_000009.12:g.121481696_121481703del, NC_000009.12:g.121481697_121481703del, NC_000009.12:g.121481698_121481703del, NC_000009.12:g.121481699_121481703del, NC_000009.12:g.121481700_121481703del, NC_000009.12:g.121481701_121481703del, NC_000009.12:g.121481702_121481703del, NC_000009.12:g.121481703del, NC_000009.12:g.121481703dup, NC_000009.12:g.121481702_121481703dup, NC_000009.12:g.121481698_121481703dup, NC_000009.12:g.121481696_121481703dup, NC_000009.12:g.121481695_121481703dup, NC_000009.12:g.121481694_121481703dup, NC_000009.12:g.121481692_121481703dup, NC_000009.11:g.124243969_124243981del, NC_000009.11:g.124243970_124243981del, NC_000009.11:g.124243971_124243981del, NC_000009.11:g.124243974_124243981del, NC_000009.11:g.124243975_124243981del, NC_000009.11:g.124243976_124243981del, NC_000009.11:g.124243977_124243981del, NC_000009.11:g.124243978_124243981del, NC_000009.11:g.124243979_124243981del, NC_000009.11:g.124243980_124243981del, NC_000009.11:g.124243981del, NC_000009.11:g.124243981dup, NC_000009.11:g.124243980_124243981dup, NC_000009.11:g.124243976_124243981dup, NC_000009.11:g.124243974_124243981dup, NC_000009.11:g.124243973_124243981dup, NC_000009.11:g.124243972_124243981dup, NC_000009.11:g.124243970_124243981dup
4.
rs1491441354 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 9:121481680
(GRCh38)
9:124243958
(GRCh37)
- Canonical SPDI:
- NC_000009.12:121481679:CA:
- Gene:
- GGTA1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.01694/201
(
ALFA)
-=0.00233/64
(TOMMO)
- HGVS:
5.
rs1491431308 has merged into rs56784223 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAA>-,A,AA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 9:121481165
(GRCh38)
9:124243443
(GRCh37)
- Canonical SPDI:
- NC_000009.12:121481152:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000009.12:121481152:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000009.12:121481152:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000009.12:121481152:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000009.12:121481152:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000009.12:121481152:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000009.12:121481152:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000009.12:121481152:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000009.12:121481152:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:121481152:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:121481152:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:121481152:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:121481152:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:121481152:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:121481152:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:121481152:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:121481152:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:121481152:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- GGTA1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAA=0./0
(
ALFA)
- HGVS:
NC_000009.12:g.121481165_121481176del, NC_000009.12:g.121481166_121481176del, NC_000009.12:g.121481167_121481176del, NC_000009.12:g.121481169_121481176del, NC_000009.12:g.121481170_121481176del, NC_000009.12:g.121481172_121481176del, NC_000009.12:g.121481173_121481176del, NC_000009.12:g.121481174_121481176del, NC_000009.12:g.121481175_121481176del, NC_000009.12:g.121481176del, NC_000009.12:g.121481176dup, NC_000009.12:g.121481175_121481176dup, NC_000009.12:g.121481174_121481176dup, NC_000009.12:g.121481173_121481176dup, NC_000009.12:g.121481171_121481176dup, NC_000009.12:g.121481159_121481176dup, NC_000009.12:g.121481176_121481177insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.12:g.121481176_121481177insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.11:g.124243443_124243454del, NC_000009.11:g.124243444_124243454del, NC_000009.11:g.124243445_124243454del, NC_000009.11:g.124243447_124243454del, NC_000009.11:g.124243448_124243454del, NC_000009.11:g.124243450_124243454del, NC_000009.11:g.124243451_124243454del, NC_000009.11:g.124243452_124243454del, NC_000009.11:g.124243453_124243454del, NC_000009.11:g.124243454del, NC_000009.11:g.124243454dup, NC_000009.11:g.124243453_124243454dup, NC_000009.11:g.124243452_124243454dup, NC_000009.11:g.124243451_124243454dup, NC_000009.11:g.124243449_124243454dup, NC_000009.11:g.124243437_124243454dup, NC_000009.11:g.124243454_124243455insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.11:g.124243454_124243455insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
6.
rs1491420449 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 9:121481152
(GRCh38)
9:124243430
(GRCh37)
- Canonical SPDI:
- NC_000009.12:121481151:CA:
- Gene:
- GGTA1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00658/78
(
ALFA)
-=0.00277/76
(TOMMO)
- HGVS:
8.
rs1491328827 has merged into rs34747249 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTGT>-,GT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT
[Show Flanks]
- Chromosome:
- 9:121488139
(GRCh38)
9:124250417
(GRCh37)
- Canonical SPDI:
- NC_000009.12:121488125:TGTGTGTGTGTGTGTGT:TGTGTGTGTGTGT,NC_000009.12:121488125:TGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000009.12:121488125:TGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000009.12:121488125:TGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000009.12:121488125:TGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000009.12:121488125:TGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT
- Gene:
- GGTA1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGTGTGTGTGTGT=0./0
(
ALFA)
- HGVS:
NC_000009.12:g.121488127GT[6], NC_000009.12:g.121488127GT[7], NC_000009.12:g.121488127GT[9], NC_000009.12:g.121488127GT[10], NC_000009.12:g.121488127GT[11], NC_000009.12:g.121488127GT[12], NC_000009.11:g.124250405GT[6], NC_000009.11:g.124250405GT[7], NC_000009.11:g.124250405GT[9], NC_000009.11:g.124250405GT[10], NC_000009.11:g.124250405GT[11], NC_000009.11:g.124250405GT[12]
9.
rs1491263997 has merged into rs397894554 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 9:121466966
(GRCh38)
9:124229244
(GRCh37)
- Canonical SPDI:
- NC_000009.12:121466953:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000009.12:121466953:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000009.12:121466953:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000009.12:121466953:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000009.12:121466953:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000009.12:121466953:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000009.12:121466953:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000009.12:121466953:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000009.12:121466953:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:121466953:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:121466953:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:121466953:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:121466953:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- GGTA1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAA=0./0
(
ALFA)
- HGVS:
NC_000009.12:g.121466966_121466971del, NC_000009.12:g.121466967_121466971del, NC_000009.12:g.121466968_121466971del, NC_000009.12:g.121466969_121466971del, NC_000009.12:g.121466970_121466971del, NC_000009.12:g.121466971del, NC_000009.12:g.121466971dup, NC_000009.12:g.121466970_121466971dup, NC_000009.12:g.121466967_121466971dup, NC_000009.12:g.121466963_121466971dup, NC_000009.12:g.121466962_121466971dup, NC_000009.12:g.121466960_121466971dup, NC_000009.12:g.121466954_121466971A[21]TAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000009.11:g.124229244_124229249del, NC_000009.11:g.124229245_124229249del, NC_000009.11:g.124229246_124229249del, NC_000009.11:g.124229247_124229249del, NC_000009.11:g.124229248_124229249del, NC_000009.11:g.124229249del, NC_000009.11:g.124229249dup, NC_000009.11:g.124229248_124229249dup, NC_000009.11:g.124229245_124229249dup, NC_000009.11:g.124229241_124229249dup, NC_000009.11:g.124229240_124229249dup, NC_000009.11:g.124229238_124229249dup, NC_000009.11:g.124229232_124229249A[21]TAAAAAAAAAAAAAAAAAAAAAAA[1]
10.
rs1491230613 has merged into rs371689583 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T,TTT,TTTT
[Show Flanks]
- Chromosome:
- 9:121491610
(GRCh38)
9:124253888
(GRCh37)
- Canonical SPDI:
- NC_000009.12:121491598:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000009.12:121491598:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000009.12:121491598:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000009.12:121491598:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT
- Gene:
- GGTA1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.04625/12242
(TOPMED)
- HGVS:
11.
rs1491224084 has merged into rs35537073 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 9:121487592
(GRCh38)
9:124249870
(GRCh37)
- Canonical SPDI:
- NC_000009.12:121487574:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000009.12:121487574:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000009.12:121487574:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000009.12:121487574:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000009.12:121487574:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000009.12:121487574:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:121487574:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:121487574:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:121487574:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:121487574:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:121487574:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:121487574:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:121487574:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- GGTA1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAAAAA=0./0
(
ALFA)
-=0.0549/26
(NorthernSweden)
- HGVS:
NC_000009.12:g.121487592_121487597del, NC_000009.12:g.121487593_121487597del, NC_000009.12:g.121487594_121487597del, NC_000009.12:g.121487595_121487597del, NC_000009.12:g.121487596_121487597del, NC_000009.12:g.121487597del, NC_000009.12:g.121487597dup, NC_000009.12:g.121487596_121487597dup, NC_000009.12:g.121487595_121487597dup, NC_000009.12:g.121487594_121487597dup, NC_000009.12:g.121487593_121487597dup, NC_000009.12:g.121487592_121487597dup, NC_000009.12:g.121487589_121487597dup, NC_000009.11:g.124249870_124249875del, NC_000009.11:g.124249871_124249875del, NC_000009.11:g.124249872_124249875del, NC_000009.11:g.124249873_124249875del, NC_000009.11:g.124249874_124249875del, NC_000009.11:g.124249875del, NC_000009.11:g.124249875dup, NC_000009.11:g.124249874_124249875dup, NC_000009.11:g.124249873_124249875dup, NC_000009.11:g.124249872_124249875dup, NC_000009.11:g.124249871_124249875dup, NC_000009.11:g.124249870_124249875dup, NC_000009.11:g.124249867_124249875dup
12.
rs1491066792 has merged into rs66772492 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTT>-,T,TTT,TTTT,TTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 9:121494932
(GRCh38)
9:124257210
(GRCh37)
- Canonical SPDI:
- NC_000009.12:121494922:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000009.12:121494922:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000009.12:121494922:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000009.12:121494922:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000009.12:121494922:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000009.12:121494922:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000009.12:121494922:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000009.12:121494922:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000009.12:121494922:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:121494922:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:121494922:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:121494922:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:121494922:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:121494922:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:121494922:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:121494922:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:121494922:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- GGTA1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTT=0./0
(
ALFA)
T=0.1428/715
(1000Genomes)
- HGVS:
NC_000009.12:g.121494932_121494942del, NC_000009.12:g.121494933_121494942del, NC_000009.12:g.121494935_121494942del, NC_000009.12:g.121494936_121494942del, NC_000009.12:g.121494937_121494942del, NC_000009.12:g.121494941_121494942del, NC_000009.12:g.121494942del, NC_000009.12:g.121494942dup, NC_000009.12:g.121494941_121494942dup, NC_000009.12:g.121494940_121494942dup, NC_000009.12:g.121494939_121494942dup, NC_000009.12:g.121494938_121494942dup, NC_000009.12:g.121494937_121494942dup, NC_000009.12:g.121494936_121494942dup, NC_000009.12:g.121494935_121494942dup, NC_000009.12:g.121494933_121494942dup, NC_000009.12:g.121494942_121494943insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.124257210_124257220del, NC_000009.11:g.124257211_124257220del, NC_000009.11:g.124257213_124257220del, NC_000009.11:g.124257214_124257220del, NC_000009.11:g.124257215_124257220del, NC_000009.11:g.124257219_124257220del, NC_000009.11:g.124257220del, NC_000009.11:g.124257220dup, NC_000009.11:g.124257219_124257220dup, NC_000009.11:g.124257218_124257220dup, NC_000009.11:g.124257217_124257220dup, NC_000009.11:g.124257216_124257220dup, NC_000009.11:g.124257215_124257220dup, NC_000009.11:g.124257214_124257220dup, NC_000009.11:g.124257213_124257220dup, NC_000009.11:g.124257211_124257220dup, NC_000009.11:g.124257220_124257221insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
13.
rs1491035806 has merged into rs59558032 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTT>-,T,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 9:121501690
(GRCh38)
9:124263969
(GRCh37)
- Canonical SPDI:
- NC_000009.12:121501681:TTTTTTTTTTTTTTT:TTTTTTTT,NC_000009.12:121501681:TTTTTTTTTTTTTTT:TTTTTTTTT,NC_000009.12:121501681:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000009.12:121501681:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000009.12:121501681:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000009.12:121501681:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000009.12:121501681:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000009.12:121501681:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000009.12:121501681:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- GGTA1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTT=0./0
(
ALFA)
-=0.4742/2375
(1000Genomes)
- HGVS:
NC_000009.12:g.121501690_121501696del, NC_000009.12:g.121501691_121501696del, NC_000009.12:g.121501694_121501696del, NC_000009.12:g.121501695_121501696del, NC_000009.12:g.121501696del, NC_000009.12:g.121501696dup, NC_000009.12:g.121501695_121501696dup, NC_000009.12:g.121501694_121501696dup, NC_000009.12:g.121501685_121501696dup, NC_000009.11:g.124263969_124263975del, NC_000009.11:g.124263970_124263975del, NC_000009.11:g.124263973_124263975del, NC_000009.11:g.124263974_124263975del, NC_000009.11:g.124263975del, NC_000009.11:g.124263975dup, NC_000009.11:g.124263974_124263975dup, NC_000009.11:g.124263973_124263975dup, NC_000009.11:g.124263964_124263975dup
14.
rs1491027582 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 9:121465019
(GRCh38)
9:124227297
(GRCh37)
- Canonical SPDI:
- NC_000009.12:121465017:ACA:A
- Gene:
- GGTA1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
-=0.000035/1
(TOMMO)
-=0.000211/29
(GnomAD)
-=0.001667/1
(NorthernSweden)
- HGVS:
16.
rs1490908345 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 9:121470169
(GRCh38)
9:124232448
(GRCh37)
- Canonical SPDI:
- NC_000009.12:121470169:AAAA:AAAAA
- Gene:
- GGTA1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAA=0./0
(
ALFA)
A=0.000057/8
(GnomAD)
A=0.000076/20
(TOPMED)
- HGVS:
17.
rs1490858602 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 9:121456828
(GRCh38)
9:124219106
(GRCh37)
- Canonical SPDI:
- NC_000009.12:121456827:C:G
- Gene:
- GGTA1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
18.
rs1490461752 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 9:121490273
(GRCh38)
9:124252551
(GRCh37)
- Canonical SPDI:
- NC_000009.12:121490272:C:A
- Gene:
- GGTA1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
19.
rs1490394374 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:121490828
(GRCh38)
9:124253106
(GRCh37)
- Canonical SPDI:
- NC_000009.12:121490827:G:A
- Gene:
- GGTA1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000021/3
(GnomAD)
- HGVS:
20.
rs1490230829 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 9:121492008
(GRCh38)
9:124254286
(GRCh37)
- Canonical SPDI:
- NC_000009.12:121492007:T:C
- Gene:
- GGTA1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS: