Links from Gene
Items: 1 to 20 of 1000
1.
rs1491573674 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-
[Show Flanks]
- Chromosome:
- 13:45385510
(GRCh38)
13:45959645
(GRCh37)
- Canonical SPDI:
- NC_000013.11:45385507:AAAA:AA
- Gene:
- TPT1-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAA=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
2.
rs1491571710 has merged into rs764292578 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,TTATTT,TTT,TTTT
[Show Flanks]
- Chromosome:
- 13:45349342
(GRCh38)
13:45923477
(GRCh37)
- Canonical SPDI:
- NC_000013.11:45349340:TTT:T,NC_000013.11:45349340:TTT:TTTATTT,NC_000013.11:45349340:TTT:TTTT,NC_000013.11:45349340:TTT:TTTTT
- Gene:
- TPT1-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTT=0./0
(
ALFA)
-=0./0
(GnomAD)
TTTA=0.102481/380
(TWINSUK)
TTTA=0.108199/417
(ALSPAC)
- HGVS:
3.
rs1491546261 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->ATTTATACACTGT
[Show Flanks]
- Chromosome:
- 13:45391947
(GRCh38)
13:45966083
(GRCh37)
- Canonical SPDI:
- NC_000013.11:45391947:TATTTATACACTGT:TATTTATACACTGTATTTATACACTGT
- Gene:
- TPT1-AS1 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
TATTTATACACTGTATTTATACACTGT=0./0
(
ALFA)
TATTTATACACTG=0.000004/1
(TOPMED)
- HGVS:
4.
rs1491543121 has merged into rs58847197 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAAA
[Show Flanks]
- Chromosome:
- 13:45367310
(GRCh38)
13:45941445
(GRCh37)
- Canonical SPDI:
- NC_000013.11:45367297:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000013.11:45367297:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000013.11:45367297:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000013.11:45367297:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000013.11:45367297:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000013.11:45367297:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000013.11:45367297:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
- Gene:
- TPT1-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAA=0./0
(
ALFA)
AA=0.000004/1
(TOPMED)
- HGVS:
NC_000013.11:g.45367310_45367312del, NC_000013.11:g.45367311_45367312del, NC_000013.11:g.45367312del, NC_000013.11:g.45367312dup, NC_000013.11:g.45367311_45367312dup, NC_000013.11:g.45367310_45367312dup, NC_000013.11:g.45367308_45367312dup, NC_000013.10:g.45941445_45941447del, NC_000013.10:g.45941446_45941447del, NC_000013.10:g.45941447del, NC_000013.10:g.45941447dup, NC_000013.10:g.45941446_45941447dup, NC_000013.10:g.45941445_45941447dup, NC_000013.10:g.45941443_45941447dup
5.
rs1491514739 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 13:45380721
(GRCh38)
13:45954857
(GRCh37)
- Canonical SPDI:
- NC_000013.11:45380721:GGGG:GGGGG
- Gene:
- TPT1-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGGGG=0./0
(
ALFA)
G=0.000015/2
(GnomAD)
G=0.000023/6
(TOPMED)
- HGVS:
7.
rs1491447842 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 13:45366935
(GRCh38)
13:45941070
(GRCh37)
- Canonical SPDI:
- NC_000013.11:45366932:CTCT:CT
- Gene:
- TPT1-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CTCT=0.000071/1
(
ALFA)
-=0.000049/13
(TOPMED)
-=0.000057/8
(GnomAD)
- HGVS:
8.
rs1491395345 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 13:45391199
(GRCh38)
13:45965335
(GRCh37)
- Canonical SPDI:
- NC_000013.11:45391199:GGGGG:GGGGGG
- Gene:
- TPT1-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency
- MAF:
G=0.000007/1
(GnomAD)
- HGVS:
9.
rs1491390034 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CTTCTTTCTTTCTTTCTTTCTTTCTTTC
[Show Flanks]
- Chromosome:
- 13:45349341
(GRCh38)
13:45923477
(GRCh37)
- Canonical SPDI:
- NC_000013.11:45349341:TTCTTTCTTTCTTTCTTTCTTTCTTTC:TTCTTTCTTTCTTTCTTTCTTTCTTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTC
- Gene:
- TPT1-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
TTCTTTCTTTCTTTCTTTCTTTCTTTCC=0.00001/1
(GnomAD)
- HGVS:
10.
rs1491328684 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 13:45391949
(GRCh38)
13:45966084
(GRCh37)
- Canonical SPDI:
- NC_000013.11:45391946:ATAT:AT
- Gene:
- TPT1-AS1 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATAT=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
-=0.000014/2
(GnomAD)
- HGVS:
11.
rs1491313785 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 13:45350292
(GRCh38)
13:45924428
(GRCh37)
- Canonical SPDI:
- NC_000013.11:45350292::T
- Gene:
- TPT1-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
- HGVS:
12.
rs1491312907 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 13:45350293
(GRCh38)
13:45924428
(GRCh37)
- Canonical SPDI:
- NC_000013.11:45350291:AGA:A
- Gene:
- TPT1-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
- HGVS:
13.
rs1491279574 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AG>-
[Show Flanks]
- Chromosome:
- 13:45391199
(GRCh38)
13:45965334
(GRCh37)
- Canonical SPDI:
- NC_000013.11:45391198:AG:
- Gene:
- TPT1-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.000071/1
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
16.
rs1491187096 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AG>-
[Show Flanks]
- Chromosome:
- 13:45381821
(GRCh38)
13:45955956
(GRCh37)
- Canonical SPDI:
- NC_000013.11:45381820:AG:
- Gene:
- TPT1-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
-=0.00062/10
(TOMMO)
- HGVS:
17.
rs1491178191 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CT>-,CTCT
[Show Flanks]
- Chromosome:
- 13:45349344
(GRCh38)
13:45923479
(GRCh37)
- Canonical SPDI:
- NC_000013.11:45349342:TCT:T,NC_000013.11:45349342:TCT:TCTCT
- Gene:
- TPT1-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TCTCT=0./0
(
ALFA)
TC=0.000004/1
(TOPMED)
- HGVS:
18.
rs1491100120 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->AT
[Show Flanks]
- Chromosome:
- 13:45367312
(GRCh38)
13:45941448
(GRCh37)
- Canonical SPDI:
- NC_000013.11:45367312::AT
- Gene:
- TPT1-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AT=0./0
(
ALFA)
AT=0.000009/1
(GnomAD)
AT=0.05864/226
(ALSPAC)
AT=0.064995/241
(TWINSUK)
- HGVS:
19.
rs1491060720 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 13:45371851
(GRCh38)
13:45945986
(GRCh37)
- Canonical SPDI:
- NC_000013.11:45371849:AGA:A
- Gene:
- TPT1-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
-=0.000108/15
(GnomAD)
- HGVS:
20.
rs1491051374 has merged into rs35793418 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 13:45359165
(GRCh38)
13:45933300
(GRCh37)
- Canonical SPDI:
- NC_000013.11:45359157:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTT,NC_000013.11:45359157:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000013.11:45359157:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000013.11:45359157:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000013.11:45359157:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000013.11:45359157:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000013.11:45359157:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000013.11:45359157:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000013.11:45359157:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000013.11:45359157:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000013.11:45359157:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000013.11:45359157:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000013.11:45359157:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000013.11:45359157:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000013.11:45359157:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:45359157:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:45359157:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:45359157:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:45359157:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:45359157:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:45359157:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:45359157:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:45359157:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:45359157:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:45359157:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:45359157:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:45359157:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:45359157:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:45359157:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:45359157:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:45359157:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:45359157:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:45359157:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:45359157:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- TPT1-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
NC_000013.11:g.45359165_45359180del, NC_000013.11:g.45359167_45359180del, NC_000013.11:g.45359168_45359180del, NC_000013.11:g.45359169_45359180del, NC_000013.11:g.45359170_45359180del, NC_000013.11:g.45359171_45359180del, NC_000013.11:g.45359172_45359180del, NC_000013.11:g.45359173_45359180del, NC_000013.11:g.45359174_45359180del, NC_000013.11:g.45359175_45359180del, NC_000013.11:g.45359176_45359180del, NC_000013.11:g.45359177_45359180del, NC_000013.11:g.45359178_45359180del, NC_000013.11:g.45359179_45359180del, NC_000013.11:g.45359180del, NC_000013.11:g.45359180dup, NC_000013.11:g.45359179_45359180dup, NC_000013.11:g.45359178_45359180dup, NC_000013.11:g.45359177_45359180dup, NC_000013.11:g.45359176_45359180dup, NC_000013.11:g.45359175_45359180dup, NC_000013.11:g.45359174_45359180dup, NC_000013.11:g.45359173_45359180dup, NC_000013.11:g.45359172_45359180dup, NC_000013.11:g.45359171_45359180dup, NC_000013.11:g.45359170_45359180dup, NC_000013.11:g.45359169_45359180dup, NC_000013.11:g.45359168_45359180dup, NC_000013.11:g.45359166_45359180dup, NC_000013.11:g.45359165_45359180dup, NC_000013.11:g.45359162_45359180dup, NC_000013.11:g.45359158_45359180dup, NC_000013.11:g.45359180_45359181insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.45359180_45359181insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.45933300_45933315del, NC_000013.10:g.45933302_45933315del, NC_000013.10:g.45933303_45933315del, NC_000013.10:g.45933304_45933315del, NC_000013.10:g.45933305_45933315del, NC_000013.10:g.45933306_45933315del, NC_000013.10:g.45933307_45933315del, NC_000013.10:g.45933308_45933315del, NC_000013.10:g.45933309_45933315del, NC_000013.10:g.45933310_45933315del, NC_000013.10:g.45933311_45933315del, NC_000013.10:g.45933312_45933315del, NC_000013.10:g.45933313_45933315del, NC_000013.10:g.45933314_45933315del, NC_000013.10:g.45933315del, NC_000013.10:g.45933315dup, NC_000013.10:g.45933314_45933315dup, NC_000013.10:g.45933313_45933315dup, NC_000013.10:g.45933312_45933315dup, NC_000013.10:g.45933311_45933315dup, NC_000013.10:g.45933310_45933315dup, NC_000013.10:g.45933309_45933315dup, NC_000013.10:g.45933308_45933315dup, NC_000013.10:g.45933307_45933315dup, NC_000013.10:g.45933306_45933315dup, NC_000013.10:g.45933305_45933315dup, NC_000013.10:g.45933304_45933315dup, NC_000013.10:g.45933303_45933315dup, NC_000013.10:g.45933301_45933315dup, NC_000013.10:g.45933300_45933315dup, NC_000013.10:g.45933297_45933315dup, NC_000013.10:g.45933293_45933315dup, NC_000013.10:g.45933315_45933316insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.45933315_45933316insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT