Links from Gene
Items: 1 to 20 of 26837
1.
rs1491555220 has merged into rs1554299354 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,TTT,TTTT
[Show Flanks]
- Chromosome:
- 6:158534458
(GRCh38)
6:158955490
(GRCh37)
- Canonical SPDI:
- NC_000006.12:158534454:TTTTT:TTT,NC_000006.12:158534454:TTTTT:TTTTTT,NC_000006.12:158534454:TTTTT:TTTTTTT
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTT=0./0
(
ALFA)
-=0.00071/12
(TOMMO)
- HGVS:
2.
rs1491551305 has merged into rs368216274 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAA>-,A,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 6:158550903
(GRCh38)
6:158971935
(GRCh37)
- Canonical SPDI:
- NC_000006.12:158550892:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000006.12:158550892:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000006.12:158550892:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:158550892:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:158550892:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:158550892:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:158550892:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000006.12:158550892:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000006.12:158550892:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:158550892:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:158550892:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:158550892:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:158550892:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:158550892:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:158550892:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- TMEM181 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000006.12:g.158550903_158550913del, NC_000006.12:g.158550904_158550913del, NC_000006.12:g.158550908_158550913del, NC_000006.12:g.158550909_158550913del, NC_000006.12:g.158550910_158550913del, NC_000006.12:g.158550911_158550913del, NC_000006.12:g.158550912_158550913del, NC_000006.12:g.158550913del, NC_000006.12:g.158550913dup, NC_000006.12:g.158550912_158550913dup, NC_000006.12:g.158550911_158550913dup, NC_000006.12:g.158550910_158550913dup, NC_000006.12:g.158550907_158550913dup, NC_000006.12:g.158550905_158550913dup, NC_000006.12:g.158550904_158550913dup, NC_000006.11:g.158971935_158971945del, NC_000006.11:g.158971936_158971945del, NC_000006.11:g.158971940_158971945del, NC_000006.11:g.158971941_158971945del, NC_000006.11:g.158971942_158971945del, NC_000006.11:g.158971943_158971945del, NC_000006.11:g.158971944_158971945del, NC_000006.11:g.158971945del, NC_000006.11:g.158971945dup, NC_000006.11:g.158971944_158971945dup, NC_000006.11:g.158971943_158971945dup, NC_000006.11:g.158971942_158971945dup, NC_000006.11:g.158971939_158971945dup, NC_000006.11:g.158971937_158971945dup, NC_000006.11:g.158971936_158971945dup
3.
rs1491466572 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AA
[Show Flanks]
- Chromosome:
- 6:158626919
(GRCh38)
6:159047952
(GRCh37)
- Canonical SPDI:
- NC_000006.12:158626919:A:AAA
- Gene:
- TMEM181 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency
- MAF:
AA=0.00043/10
(TOMMO)
- HGVS:
4.
rs1491367829 has merged into rs575576602 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AT>-,ATATATATAT
[Show Flanks]
- Chromosome:
- 6:158605160
(GRCh38)
6:159026192
(GRCh37)
- Canonical SPDI:
- NC_000006.12:158605158:TAT:T,NC_000006.12:158605158:TAT:TATATATATAT
- Gene:
- TMEM181 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
-=0.000038/5
(GnomAD)
- HGVS:
5.
rs1491365320 has merged into rs34148643 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 6:158547899
(GRCh38)
6:158968931
(GRCh37)
- Canonical SPDI:
- NC_000006.12:158547887:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000006.12:158547887:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:158547887:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:158547887:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:158547887:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:158547887:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:158547887:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:158547887:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:158547887:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000006.12:158547887:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000006.12:158547887:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000006.12:158547887:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:158547887:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:158547887:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:158547887:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:158547887:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:158547887:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:158547887:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:158547887:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- TMEM181 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAA=0./0
(
ALFA)
-=0.225/9
(GENOME_DK)
- HGVS:
NC_000006.12:g.158547899_158547913del, NC_000006.12:g.158547900_158547913del, NC_000006.12:g.158547901_158547913del, NC_000006.12:g.158547902_158547913del, NC_000006.12:g.158547903_158547913del, NC_000006.12:g.158547904_158547913del, NC_000006.12:g.158547905_158547913del, NC_000006.12:g.158547906_158547913del, NC_000006.12:g.158547907_158547913del, NC_000006.12:g.158547908_158547913del, NC_000006.12:g.158547909_158547913del, NC_000006.12:g.158547910_158547913del, NC_000006.12:g.158547911_158547913del, NC_000006.12:g.158547912_158547913del, NC_000006.12:g.158547913del, NC_000006.12:g.158547913dup, NC_000006.12:g.158547912_158547913dup, NC_000006.12:g.158547911_158547913dup, NC_000006.12:g.158547909_158547913dup, NC_000006.11:g.158968931_158968945del, NC_000006.11:g.158968932_158968945del, NC_000006.11:g.158968933_158968945del, NC_000006.11:g.158968934_158968945del, NC_000006.11:g.158968935_158968945del, NC_000006.11:g.158968936_158968945del, NC_000006.11:g.158968937_158968945del, NC_000006.11:g.158968938_158968945del, NC_000006.11:g.158968939_158968945del, NC_000006.11:g.158968940_158968945del, NC_000006.11:g.158968941_158968945del, NC_000006.11:g.158968942_158968945del, NC_000006.11:g.158968943_158968945del, NC_000006.11:g.158968944_158968945del, NC_000006.11:g.158968945del, NC_000006.11:g.158968945dup, NC_000006.11:g.158968944_158968945dup, NC_000006.11:g.158968943_158968945dup, NC_000006.11:g.158968941_158968945dup
6.
rs1491363438 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AC>-
[Show Flanks]
- Chromosome:
- 6:158611985
(GRCh38)
6:159033017
(GRCh37)
- Canonical SPDI:
- NC_000006.12:158611983:CAC:C
- Gene:
- TMEM181 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,intron_variant
- Validated:
- by frequency,by cluster
- MAF:
-=0.0113/42
(TWINSUK)
-=0.0127/49
(ALSPAC)
- HGVS:
8.
rs1491332398 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 6:158547887
(GRCh38)
6:158968919
(GRCh37)
- Canonical SPDI:
- NC_000006.12:158547886:CA:
- Gene:
- TMEM181 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.00008/1
(
ALFA)
-=0.00151/39
(TOMMO)
- HGVS:
9.
rs1491325029 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 6:158571263
(GRCh38)
6:158992295
(GRCh37)
- Canonical SPDI:
- NC_000006.12:158571262:AT:
- Gene:
- TMEM181 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
10.
rs1491278222 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 6:158550892
(GRCh38)
6:158971924
(GRCh37)
- Canonical SPDI:
- NC_000006.12:158550891:GA:
- Gene:
- TMEM181 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00826/98
(
ALFA)
-=0.00113/32
(TOMMO)
-=0.00115/56
(GnomAD)
- HGVS:
11.
rs1491272454 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 6:158626919
(GRCh38)
6:159047951
(GRCh37)
- Canonical SPDI:
- NC_000006.12:158626918:CA:
- Gene:
- TMEM181 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000038/4
(GnomAD)
- HGVS:
14.
rs1491154834 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 6:158593323
(GRCh38)
6:159014355
(GRCh37)
- Canonical SPDI:
- NC_000006.12:158593320:TATA:TA
- Gene:
- TMEM181 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TATA=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
- HGVS:
15.
rs1491154451 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 6:158571263
(GRCh38)
6:158992296
(GRCh37)
- Canonical SPDI:
- NC_000006.12:158571263:TTTTTT:TTTTTTT
- Gene:
- TMEM181 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTT=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
16.
rs1491148053 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 6:158577061
(GRCh38)
6:158998093
(GRCh37)
- Canonical SPDI:
- NC_000006.12:158577060:CA:
- Gene:
- TMEM181 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.00054/2
(TWINSUK)
-=0.00259/10
(ALSPAC)
- HGVS:
17.
rs1491138549 has merged into rs57907555 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTT>-,T,TT,TTTT,TTTTT,TTTTTT
[Show Flanks]
- Chromosome:
- 6:158569611
(GRCh38)
6:158990643
(GRCh37)
- Canonical SPDI:
- NC_000006.12:158569597:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:158569597:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:158569597:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:158569597:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:158569597:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:158569597:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
- Gene:
- TMEM181 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.08327/417
(1000Genomes)
T=0.15/6
(GENOME_DK)
- HGVS:
NC_000006.12:g.158569611_158569613del, NC_000006.12:g.158569612_158569613del, NC_000006.12:g.158569613del, NC_000006.12:g.158569613dup, NC_000006.12:g.158569612_158569613dup, NC_000006.12:g.158569611_158569613dup, NC_000006.11:g.158990643_158990645del, NC_000006.11:g.158990644_158990645del, NC_000006.11:g.158990645del, NC_000006.11:g.158990645dup, NC_000006.11:g.158990644_158990645dup, NC_000006.11:g.158990643_158990645dup
18.
rs1491108411 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TT>-
[Show Flanks]
- Chromosome:
- 6:158562477
(GRCh38)
6:158983509
(GRCh37)
- Canonical SPDI:
- NC_000006.12:158562476:TT:
- Gene:
- TMEM181 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.074444/1132
(
ALFA)
-=0.020317/340
(TOMMO)
-=0.045/27
(NorthernSweden)
-=0.060044/110
(Korea1K)
-=0.077716/8995
(GnomAD)
-=0.285571/285
(GoNL)
- HGVS:
20.
rs1491062547 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AG>-
[Show Flanks]
- Chromosome:
- 6:158619889
(GRCh38)
6:159040921
(GRCh37)
- Canonical SPDI:
- NC_000006.12:158619888:AG:
- Gene:
- TMEM181 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.00015/14
(GnomAD)
- HGVS: