Links from Gene
Items: 1 to 20 of 1000
2.
rs1491552361 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->T,TATATAATAT,TTAT,TTTCAT
[Show Flanks]
- Chromosome:
- 4:48104552
(GRCh38)
4:48106570
(GRCh37)
- Canonical SPDI:
- NC_000004.12:48104552::T,NC_000004.12:48104552::TATATAATAT,NC_000004.12:48104552::TTAT,NC_000004.12:48104552::TTTCAT
- Gene:
- TXK (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTAT=0./0
(
ALFA)
TATATAATAT=0.00008/1
(TOMMO)
- HGVS:
4.
rs1491470635 has merged into rs33984668 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T,TTT
[Show Flanks]
- Chromosome:
- 4:48133236
(GRCh38)
4:48135253
(GRCh37)
- Canonical SPDI:
- NC_000004.12:48133226:TTTTTTTTTTT:TTTTTTTTT,NC_000004.12:48133226:TTTTTTTTTTT:TTTTTTTTTT,NC_000004.12:48133226:TTTTTTTTTTT:TTTTTTTTTTTT
- Gene:
- TXK (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTT=0./0
(
ALFA)
-=0.038864/10287
(TOPMED)
- HGVS:
5.
rs1491466630 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->ATGTACATATATACGTATATATGTATATACGTATAT
[Show Flanks]
- Chromosome:
- 4:48120199
(GRCh38)
4:48122217
(GRCh37)
- Canonical SPDI:
- NC_000004.12:48120199:TATATACGTATATATGTACATATATACGTATATATGTATATACGTATAT:TATATACGTATATATGTACATATATACGTATATATGTATATACGTATATATGTACATATATACGTATATATGTATATACGTATAT
- Gene:
- TXK (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
TATATACGTATATATGTACATATATACGTATATATG=0.00009/8
(GnomAD)
TATATACGTATATATGTACATATATACGTATATATG=0.00055/1
(Korea1K)
- HGVS:
6.
rs1491408112 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 4:48120204
(GRCh38)
4:48122221
(GRCh37)
- Canonical SPDI:
- NC_000004.12:48120198:ATATATA:ATATA
- Gene:
- TXK (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATATA=0.00126/15
(
ALFA)
-=0.0018/152
(GnomAD)
- HGVS:
8.
rs1491375982 has merged into rs879415170 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATAT>-,AT
[Show Flanks]
- Chromosome:
- 4:48120161
(GRCh38)
4:48122178
(GRCh37)
- Canonical SPDI:
- NC_000004.12:48120156:ATATATAT:ATAT,NC_000004.12:48120156:ATATATAT:ATATAT
- Gene:
- TXK (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATATATAT=0.079931/1296
(
ALFA)
-=0.000102/27
(TOPMED)
-=0.000809/3
(TWINSUK)
-=0.001038/4
(ALSPAC)
-=0.042182/75
(Korea1K)
-=0.055847/915
(TOMMO)
-=0.328333/197
(NorthernSweden)
- HGVS:
9.
rs1491372022 has merged into rs11358014 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,A,AAA
[Show Flanks]
- Chromosome:
- 4:48079889
(GRCh38)
4:48081906
(GRCh37)
- Canonical SPDI:
- NC_000004.12:48079879:AAAAAAAAAAA:AAAAAAAAA,NC_000004.12:48079879:AAAAAAAAAAA:AAAAAAAAAA,NC_000004.12:48079879:AAAAAAAAAAA:AAAAAAAAAAAA
- Gene:
- TXK (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAA=0.013799/254
(
ALFA)
A=0.30205/1120
(TWINSUK)
A=0.307473/1185
(ALSPAC)
A=0.35/14
(GENOME_DK)
A=0.370585/72465
(GnomAD_exomes)
-=0.461864/2289
(1000Genomes)
A=0.487631/129071
(TOPMED)
- HGVS:
14.
rs1491207403 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AA>-
[Show Flanks]
- Chromosome:
- 4:48104273
(GRCh38)
4:48106290
(GRCh37)
- Canonical SPDI:
- NC_000004.12:48104272:AA:
- Gene:
- TXK (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.00107/4
(GnomAD)
- HGVS:
15.
rs1491186050 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A,AA,ATTTTATATA
[Show Flanks]
- Chromosome:
- 4:48104228
(GRCh38)
4:48106246
(GRCh37)
- Canonical SPDI:
- NC_000004.12:48104228::A,NC_000004.12:48104228::AA,NC_000004.12:48104228::ATTTTATATA
- Gene:
- TXK (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
ATTTTATATA=0./0
(
ALFA)
AA=0.00003/2
(GnomAD)
- HGVS:
16.
rs1491166173 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CAA,CAAA
[Show Flanks]
- Chromosome:
- 4:48100171
(GRCh38)
4:48102189
(GRCh37)
- Canonical SPDI:
- NC_000004.12:48100171:A:ACAA,NC_000004.12:48100171:A:ACAAA
- Gene:
- TXK (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
ACAAA=0./0
(
ALFA)
ACA=0.00014/7
(GnomAD)
- HGVS:
17.
rs1491161104 has merged into rs11341305 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 4:48100181
(GRCh38)
4:48102198
(GRCh37)
- Canonical SPDI:
- NC_000004.12:48100171:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000004.12:48100171:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000004.12:48100171:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000004.12:48100171:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:48100171:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:48100171:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:48100171:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:48100171:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:48100171:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000004.12:48100171:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000004.12:48100171:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000004.12:48100171:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:48100171:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:48100171:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:48100171:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:48100171:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:48100171:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:48100171:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:48100171:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:48100171:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:48100171:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:48100171:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:48100171:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:48100171:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:48100171:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:48100171:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- TXK (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000004.12:g.48100181_48100195del, NC_000004.12:g.48100183_48100195del, NC_000004.12:g.48100184_48100195del, NC_000004.12:g.48100185_48100195del, NC_000004.12:g.48100186_48100195del, NC_000004.12:g.48100188_48100195del, NC_000004.12:g.48100189_48100195del, NC_000004.12:g.48100190_48100195del, NC_000004.12:g.48100191_48100195del, NC_000004.12:g.48100192_48100195del, NC_000004.12:g.48100193_48100195del, NC_000004.12:g.48100194_48100195del, NC_000004.12:g.48100195del, NC_000004.12:g.48100195dup, NC_000004.12:g.48100194_48100195dup, NC_000004.12:g.48100193_48100195dup, NC_000004.12:g.48100192_48100195dup, NC_000004.12:g.48100191_48100195dup, NC_000004.12:g.48100190_48100195dup, NC_000004.12:g.48100189_48100195dup, NC_000004.12:g.48100188_48100195dup, NC_000004.12:g.48100187_48100195dup, NC_000004.12:g.48100186_48100195dup, NC_000004.12:g.48100185_48100195dup, NC_000004.12:g.48100184_48100195dup, NC_000004.12:g.48100183_48100195dup, NC_000004.11:g.48102198_48102212del, NC_000004.11:g.48102200_48102212del, NC_000004.11:g.48102201_48102212del, NC_000004.11:g.48102202_48102212del, NC_000004.11:g.48102203_48102212del, NC_000004.11:g.48102205_48102212del, NC_000004.11:g.48102206_48102212del, NC_000004.11:g.48102207_48102212del, NC_000004.11:g.48102208_48102212del, NC_000004.11:g.48102209_48102212del, NC_000004.11:g.48102210_48102212del, NC_000004.11:g.48102211_48102212del, NC_000004.11:g.48102212del, NC_000004.11:g.48102212dup, NC_000004.11:g.48102211_48102212dup, NC_000004.11:g.48102210_48102212dup, NC_000004.11:g.48102209_48102212dup, NC_000004.11:g.48102208_48102212dup, NC_000004.11:g.48102207_48102212dup, NC_000004.11:g.48102206_48102212dup, NC_000004.11:g.48102205_48102212dup, NC_000004.11:g.48102204_48102212dup, NC_000004.11:g.48102203_48102212dup, NC_000004.11:g.48102202_48102212dup, NC_000004.11:g.48102201_48102212dup, NC_000004.11:g.48102200_48102212dup
18.
rs1491155077 has merged into rs371007903 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AT>-,ATAT
[Show Flanks]
- Chromosome:
- 4:48104581
(GRCh38)
4:48106598
(GRCh37)
- Canonical SPDI:
- NC_000004.12:48104572:ATATATATAT:ATATATAT,NC_000004.12:48104572:ATATATATAT:ATATATATATAT
- Gene:
- TXK (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATATATATATAT=0./0
(
ALFA)
-=0.2222/8
(GENOME_DK)
AT=0.3864/1935
(1000Genomes)
- HGVS:
19.
rs1491146960 has merged into rs376924565 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTT>-,TT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 4:48069334
(GRCh38)
4:48071351
(GRCh37)
- Canonical SPDI:
- NC_000004.12:48069326:TTTTTTTTTTTTTTTTTTT:TTTTTTT,NC_000004.12:48069326:TTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000004.12:48069326:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000004.12:48069326:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000004.12:48069326:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000004.12:48069326:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000004.12:48069326:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000004.12:48069326:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000004.12:48069326:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000004.12:48069326:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:48069326:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:48069326:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:48069326:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:48069326:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:48069326:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:48069326:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- TXK (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTT=0./0
(
ALFA)
-=0.00366/2
(NorthernSweden)
- HGVS:
NC_000004.12:g.48069334_48069345del, NC_000004.12:g.48069336_48069345del, NC_000004.12:g.48069339_48069345del, NC_000004.12:g.48069340_48069345del, NC_000004.12:g.48069341_48069345del, NC_000004.12:g.48069344_48069345del, NC_000004.12:g.48069345del, NC_000004.12:g.48069345dup, NC_000004.12:g.48069344_48069345dup, NC_000004.12:g.48069343_48069345dup, NC_000004.12:g.48069342_48069345dup, NC_000004.12:g.48069341_48069345dup, NC_000004.12:g.48069340_48069345dup, NC_000004.12:g.48069339_48069345dup, NC_000004.12:g.48069338_48069345dup, NC_000004.12:g.48069334_48069345dup, NC_000004.11:g.48071351_48071362del, NC_000004.11:g.48071353_48071362del, NC_000004.11:g.48071356_48071362del, NC_000004.11:g.48071357_48071362del, NC_000004.11:g.48071358_48071362del, NC_000004.11:g.48071361_48071362del, NC_000004.11:g.48071362del, NC_000004.11:g.48071362dup, NC_000004.11:g.48071361_48071362dup, NC_000004.11:g.48071360_48071362dup, NC_000004.11:g.48071359_48071362dup, NC_000004.11:g.48071358_48071362dup, NC_000004.11:g.48071357_48071362dup, NC_000004.11:g.48071356_48071362dup, NC_000004.11:g.48071355_48071362dup, NC_000004.11:g.48071351_48071362dup