Links from Gene
Items: 1 to 20 of 13319
1.
rs1491505696 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 13:60219123
(GRCh38)
13:60793257
(GRCh37)
- Canonical SPDI:
- NC_000013.11:60219121:TCT:T
- Gene:
- LINC00434 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
-=0.000036/1
(TOMMO)
-=0.00054/61
(GnomAD)
-=0.000549/1
(Korea1K)
- HGVS:
3.
rs1491461804 has merged into rs780908305 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTTT
[Show Flanks]
- Chromosome:
- 13:60219133
(GRCh38)
13:60793267
(GRCh37)
- Canonical SPDI:
- NC_000013.11:60219123:TTTTTTTTTTTTT:TTTTTTTTT,NC_000013.11:60219123:TTTTTTTTTTTTT:TTTTTTTTTT,NC_000013.11:60219123:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000013.11:60219123:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000013.11:60219123:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000013.11:60219123:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000013.11:60219123:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000013.11:60219123:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
- Gene:
- LINC00434 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTT=0./0
(
ALFA)
-=0.00161/27
(TOMMO)
-=0.00663/12
(Korea1K)
-=0.02131/79
(TWINSUK)
-=0.02206/85
(ALSPAC)
- HGVS:
NC_000013.11:g.60219133_60219136del, NC_000013.11:g.60219134_60219136del, NC_000013.11:g.60219135_60219136del, NC_000013.11:g.60219136del, NC_000013.11:g.60219136dup, NC_000013.11:g.60219135_60219136dup, NC_000013.11:g.60219134_60219136dup, NC_000013.11:g.60219131_60219136dup, NC_000013.10:g.60793267_60793270del, NC_000013.10:g.60793268_60793270del, NC_000013.10:g.60793269_60793270del, NC_000013.10:g.60793270del, NC_000013.10:g.60793270dup, NC_000013.10:g.60793269_60793270dup, NC_000013.10:g.60793268_60793270dup, NC_000013.10:g.60793265_60793270dup
4.
rs1491424897 has merged into rs566267164 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- T>-,TT
[Show Flanks]
- Chromosome:
- 13:60241047
(GRCh38)
13:60815181
(GRCh37)
- Canonical SPDI:
- NC_000013.11:60241046:TTTTTTTTTT:TTTTTTTTT,NC_000013.11:60241046:TTTTTTTTTT:TTTTTTTTTTT
- Gene:
- LINC00434 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTT=0.000982/18
(
ALFA)
-=0.000035/1
(TOMMO)
-=0.003333/2
(NorthernSweden)
-=0.004018/18
(Estonian)
-=0.005935/1571
(TOPMED)
-=0.012024/12
(GoNL)
-=0.25/2
(KOREAN)
- HGVS:
5.
rs1491424486 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->TCTTC,TCTTCCTTC,TCTTTCTTC,TCTTTCTTTCTTC
[Show Flanks]
- Chromosome:
- 13:60219122
(GRCh38)
13:60793257
(GRCh37)
- Canonical SPDI:
- NC_000013.11:60219122::TCTTC,NC_000013.11:60219122::TCTTCCTTC,NC_000013.11:60219122::TCTTTCTTC,NC_000013.11:60219122::TCTTTCTTTCTTC
- Gene:
- LINC00434 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TCTTCCTTC=0./0
(
ALFA)
TCTTC=0.000007/1
(GnomAD)
- HGVS:
8.
rs1491262410 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CCTTCT,CT
[Show Flanks]
- Chromosome:
- 13:60219124
(GRCh38)
13:60793259
(GRCh37)
- Canonical SPDI:
- NC_000013.11:60219124:T:TCCTTCT,NC_000013.11:60219124:T:TCT
- Gene:
- LINC00434 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TCT=0./0
(
ALFA)
TC=0.00094/16
(TOMMO)
- HGVS:
9.
rs1491247946 has merged into rs55740223 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTT>-,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTGTTTTTTTTTTTTCCTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTCTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTCTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 13:60228349
(GRCh38)
13:60802483
(GRCh37)
- Canonical SPDI:
- NC_000013.11:60228339:TTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000013.11:60228339:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000013.11:60228339:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000013.11:60228339:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000013.11:60228339:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000013.11:60228339:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000013.11:60228339:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000013.11:60228339:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTCCTTTTTTTTTTTTTTTTTTTT,NC_000013.11:60228339:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:60228339:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:60228339:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:60228339:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTT,NC_000013.11:60228339:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:60228339:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTCTTTTTTTTTTTTTTTTTTTT,NC_000013.11:60228339:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTT,NC_000013.11:60228339:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- LINC00434 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTT=0./0
(
ALFA)
T=0.3868/1937
(1000Genomes)
- HGVS:
NC_000013.11:g.60228349_60228358del, NC_000013.11:g.60228355_60228358del, NC_000013.11:g.60228356_60228358del, NC_000013.11:g.60228357_60228358del, NC_000013.11:g.60228358del, NC_000013.11:g.60228358dup, NC_000013.11:g.60228357_60228358dup, NC_000013.11:g.60228340_60228358T[21]GTTTTTTTTTTTTCCTTTTTTTTTTTTTTTTTTTT[1], NC_000013.11:g.60228340_60228358T[22]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000013.11:g.60228340_60228358T[24]CTTTTTTTTT[2]T[13], NC_000013.11:g.60228352_60228358dup, NC_000013.11:g.60228340_60228358T[26]CTTTTTTTTTTTTTTTTTTTT[1], NC_000013.11:g.60228340_60228358T[27]CTTTTTTTTTTTTTTTTTTTTT[1], NC_000013.11:g.60228340_60228358T[30]CTTTTTTTTT[2]T[11], NC_000013.11:g.60228340_60228358T[35]CTTTTTTTTTTTTTTTTTTTT[1], NC_000013.11:g.60228358_60228359insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.60802483_60802492del, NC_000013.10:g.60802489_60802492del, NC_000013.10:g.60802490_60802492del, NC_000013.10:g.60802491_60802492del, NC_000013.10:g.60802492del, NC_000013.10:g.60802492dup, NC_000013.10:g.60802491_60802492dup, NC_000013.10:g.60802474_60802492T[21]GTTTTTTTTTTTTCCTTTTTTTTTTTTTTTTTTTT[1], NC_000013.10:g.60802474_60802492T[22]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000013.10:g.60802474_60802492T[24]CTTTTTTTTT[2]T[13], NC_000013.10:g.60802486_60802492dup, NC_000013.10:g.60802474_60802492T[26]CTTTTTTTTTTTTTTTTTTTT[1], NC_000013.10:g.60802474_60802492T[27]CTTTTTTTTTTTTTTTTTTTTT[1], NC_000013.10:g.60802474_60802492T[30]CTTTTTTTTT[2]T[11], NC_000013.10:g.60802474_60802492T[35]CTTTTTTTTTTTTTTTTTTTT[1], NC_000013.10:g.60802492_60802493insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
10.
rs1491215548 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->ATCT
[Show Flanks]
- Chromosome:
- 13:60219067
(GRCh38)
13:60793202
(GRCh37)
- Canonical SPDI:
- NC_000013.11:60219067:CT:CTATCT
- Gene:
- LINC00434 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
CTATCT=0.000084/1
(
ALFA)
CTAT=0.000009/1
(GnomAD)
- HGVS:
12.
rs1491169586 has merged into rs71089538 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTGTTTTTTAGATTAGGTATTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTGTTTTTTATTTTGGTTATTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTGTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTGTTTTTTTTTTTATTTGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTGTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTGTTTTGGTTATTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 13:60259421
(GRCh38)
13:60833555
(GRCh37)
- Canonical SPDI:
- NC_000013.11:60259412:TTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000013.11:60259412:TTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000013.11:60259412:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000013.11:60259412:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000013.11:60259412:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000013.11:60259412:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000013.11:60259412:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000013.11:60259412:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000013.11:60259412:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000013.11:60259412:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000013.11:60259412:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000013.11:60259412:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000013.11:60259412:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000013.11:60259412:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:60259412:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:60259412:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:60259412:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:60259412:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTAGATTAGGTATTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:60259412:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:60259412:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:60259412:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:60259412:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:60259412:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTATTTTGGTTATTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:60259412:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:60259412:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTATTTGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:60259412:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTGTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:60259412:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:60259412:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:60259412:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:60259412:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:60259412:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:60259412:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:60259412:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:60259412:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:60259412:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:60259412:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:60259412:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:60259412:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:60259412:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:60259412:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTGGTTATTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:60259412:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:60259412:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:60259412:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:60259412:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:60259412:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:60259412:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:60259412:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:60259412:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:60259412:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:60259412:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:60259412:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:60259412:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:60259412:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:60259412:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:60259412:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:60259412:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:60259412:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:60259412:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:60259412:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:60259412:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:60259412:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:60259412:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:60259412:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:60259412:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:60259412:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:60259412:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- LINC00434 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTT=0./0
(
ALFA)
-=0./0
(GENOME_DK)
- HGVS:
NC_000013.11:g.60259421_60259431del, NC_000013.11:g.60259422_60259431del, NC_000013.11:g.60259423_60259431del, NC_000013.11:g.60259424_60259431del, NC_000013.11:g.60259425_60259431del, NC_000013.11:g.60259426_60259431del, NC_000013.11:g.60259427_60259431del, NC_000013.11:g.60259428_60259431del, NC_000013.11:g.60259429_60259431del, NC_000013.11:g.60259430_60259431del, NC_000013.11:g.60259431del, NC_000013.11:g.60259431dup, NC_000013.11:g.60259430_60259431dup, NC_000013.11:g.60259429_60259431dup, NC_000013.11:g.60259428_60259431dup, NC_000013.11:g.60259427_60259431dup, NC_000013.11:g.60259426_60259431dup, NC_000013.11:g.60259413_60259431T[25]GTTTTTTAGATTAGGTATTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000013.11:g.60259413_60259431T[25]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000013.11:g.60259413_60259431T[25]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000013.11:g.60259413_60259431T[25]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000013.11:g.60259425_60259431dup, NC_000013.11:g.60259413_60259431T[26]GTTTTTTATTTTGGTTATTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000013.11:g.60259413_60259431T[26]GTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000013.11:g.60259413_60259431T[26]GTTTTTTTTTTTATTTGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000013.11:g.60259413_60259431T[26]GTTTTTTTTTTTTGTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000013.11:g.60259413_60259431T[26]GTTTTTTTTTTTTTTTTTTTTTT[1], NC_000013.11:g.60259413_60259431T[26]GTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000013.11:g.60259413_60259431T[26]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000013.11:g.60259413_60259431T[26]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000013.11:g.60259413_60259431T[26]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000013.11:g.60259424_60259431dup, NC_000013.11:g.60259413_60259431T[27]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000013.11:g.60259423_60259431dup, NC_000013.11:g.60259422_60259431dup, NC_000013.11:g.60259421_60259431dup, NC_000013.11:g.60259420_60259431dup, NC_000013.11:g.60259419_60259431dup, NC_000013.11:g.60259418_60259431dup, NC_000013.11:g.60259413_60259431T[33]GTTTTGGTTATTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000013.11:g.60259417_60259431dup, NC_000013.11:g.60259413_60259431T[34]CTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000013.11:g.60259416_60259431dup, NC_000013.11:g.60259413_60259431T[35]CTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000013.11:g.60259415_60259431dup, NC_000013.11:g.60259414_60259431dup, NC_000013.11:g.60259413_60259431dup, NC_000013.11:g.60259431_60259432insTTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.60259431_60259432insTTTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.60259431_60259432insTTTTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.60259413_60259431T[41]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000013.11:g.60259431_60259432insTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.60259431_60259432insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.60259431_60259432insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.60259431_60259432insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.60259431_60259432insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.60259431_60259432insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.60259431_60259432insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.60259431_60259432insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.60259431_60259432insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.60259431_60259432insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.60259431_60259432insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.60259431_60259432insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.60259431_60259432insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.60259431_60259432insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.60259431_60259432insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.60833555_60833565del, NC_000013.10:g.60833556_60833565del, NC_000013.10:g.60833557_60833565del, NC_000013.10:g.60833558_60833565del, NC_000013.10:g.60833559_60833565del, NC_000013.10:g.60833560_60833565del, NC_000013.10:g.60833561_60833565del, NC_000013.10:g.60833562_60833565del, NC_000013.10:g.60833563_60833565del, NC_000013.10:g.60833564_60833565del, NC_000013.10:g.60833565del, NC_000013.10:g.60833565dup, NC_000013.10:g.60833564_60833565dup, NC_000013.10:g.60833563_60833565dup, NC_000013.10:g.60833562_60833565dup, NC_000013.10:g.60833561_60833565dup, NC_000013.10:g.60833560_60833565dup, NC_000013.10:g.60833547_60833565T[25]GTTTTTTAGATTAGGTATTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000013.10:g.60833547_60833565T[25]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000013.10:g.60833547_60833565T[25]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000013.10:g.60833547_60833565T[25]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000013.10:g.60833559_60833565dup, NC_000013.10:g.60833547_60833565T[26]GTTTTTTATTTTGGTTATTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000013.10:g.60833547_60833565T[26]GTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000013.10:g.60833547_60833565T[26]GTTTTTTTTTTTATTTGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000013.10:g.60833547_60833565T[26]GTTTTTTTTTTTTGTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000013.10:g.60833547_60833565T[26]GTTTTTTTTTTTTTTTTTTTTTT[1], NC_000013.10:g.60833547_60833565T[26]GTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000013.10:g.60833547_60833565T[26]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000013.10:g.60833547_60833565T[26]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000013.10:g.60833547_60833565T[26]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000013.10:g.60833558_60833565dup, NC_000013.10:g.60833547_60833565T[27]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000013.10:g.60833557_60833565dup, NC_000013.10:g.60833556_60833565dup, NC_000013.10:g.60833555_60833565dup, NC_000013.10:g.60833554_60833565dup, NC_000013.10:g.60833553_60833565dup, NC_000013.10:g.60833552_60833565dup, NC_000013.10:g.60833547_60833565T[33]GTTTTGGTTATTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000013.10:g.60833551_60833565dup, NC_000013.10:g.60833547_60833565T[34]CTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000013.10:g.60833550_60833565dup, NC_000013.10:g.60833547_60833565T[35]CTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000013.10:g.60833549_60833565dup, NC_000013.10:g.60833548_60833565dup, NC_000013.10:g.60833547_60833565dup, NC_000013.10:g.60833565_60833566insTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.60833565_60833566insTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.60833565_60833566insTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.60833547_60833565T[41]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000013.10:g.60833565_60833566insTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.60833565_60833566insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.60833565_60833566insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.60833565_60833566insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.60833565_60833566insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.60833565_60833566insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.60833565_60833566insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.60833565_60833566insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.60833565_60833566insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.60833565_60833566insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.60833565_60833566insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.60833565_60833566insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.60833565_60833566insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.60833565_60833566insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.60833565_60833566insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
13.
rs1491120613 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AC>-
[Show Flanks]
- Chromosome:
- 13:60219067
(GRCh38)
13:60793201
(GRCh37)
- Canonical SPDI:
- NC_000013.11:60219066:AC:
- Gene:
- LINC00434 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.000169/2
(
ALFA)
-=0.000066/7
(GnomAD)
- HGVS:
14.
rs1491069848 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TG>-
[Show Flanks]
- Chromosome:
- 13:60265681
(GRCh38)
13:60839815
(GRCh37)
- Canonical SPDI:
- NC_000013.11:60265680:TG:
- Gene:
- LINC00434 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
-=0.000039/1
(GnomAD)
- HGVS:
16.
rs1491033961 has merged into rs150383132 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T,TTT
[Show Flanks]
- Chromosome:
- 13:60219090
(GRCh38)
13:60793224
(GRCh37)
- Canonical SPDI:
- NC_000013.11:60219088:TTT:T,NC_000013.11:60219088:TTT:TT,NC_000013.11:60219088:TTT:TTTT
- Gene:
- LINC00434 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
-=0.00737/123
(TOMMO)
-=0.02717/15
(NorthernSweden)
-=0.02958/114
(ALSPAC)
-=0.03425/127
(TWINSUK)
- HGVS:
17.
rs1491004968 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 13:60228338
(GRCh38)
13:60802473
(GRCh37)
- Canonical SPDI:
- NC_000013.11:60228338::T,NC_000013.11:60228338::TT,NC_000013.11:60228338::TTT,NC_000013.11:60228338::TTTT,NC_000013.11:60228338::TTTTT,NC_000013.11:60228338::TTTTTT,NC_000013.11:60228338::TTTTTTT,NC_000013.11:60228338::TTTTTTTT,NC_000013.11:60228338::TTTTTTTTTTTTTTTTTT
- Gene:
- LINC00434 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000013.11:g.60228338_60228339insT, NC_000013.11:g.60228338_60228339insTT, NC_000013.11:g.60228338_60228339insTTT, NC_000013.11:g.60228338_60228339insTTTT, NC_000013.11:g.60228338_60228339insTTTTT, NC_000013.11:g.60228338_60228339insTTTTTT, NC_000013.11:g.60228338_60228339insTTTTTTT, NC_000013.11:g.60228338_60228339insTTTTTTTT, NC_000013.11:g.60228338_60228339insTTTTTTTTTTTTTTTTTT, NC_000013.10:g.60802472_60802473insT, NC_000013.10:g.60802472_60802473insTT, NC_000013.10:g.60802472_60802473insTTT, NC_000013.10:g.60802472_60802473insTTTT, NC_000013.10:g.60802472_60802473insTTTTT, NC_000013.10:g.60802472_60802473insTTTTTT, NC_000013.10:g.60802472_60802473insTTTTTTT, NC_000013.10:g.60802472_60802473insTTTTTTTT, NC_000013.10:g.60802472_60802473insTTTTTTTTTTTTTTTTTT
18.
rs1491002740 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 13:60213860
(GRCh38)
13:60787994
(GRCh37)
- Canonical SPDI:
- NC_000013.11:60213859:T:C
- Gene:
- LINC00434 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
19.
rs1490976722 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 13:60214841
(GRCh38)
13:60788975
(GRCh37)
- Canonical SPDI:
- NC_000013.11:60214840:T:G
- Gene:
- LINC00434 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
20.
rs1490904474 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 13:60246900
(GRCh38)
13:60821034
(GRCh37)
- Canonical SPDI:
- NC_000013.11:60246899:A:G
- Gene:
- LINC00434 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000034/9
(TOPMED)
- HGVS: