Links from Gene
Items: 1 to 20 of 68011
1.
rs1491577280 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AT
[Show Flanks]
- Chromosome:
- 13:99648905
(GRCh38)
13:100301160
(GRCh37)
- Canonical SPDI:
- NC_000013.11:99648905:ATATATATAT:ATATATATATAT
- Gene:
- CLYBL (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATATATATATAT=0./0
(
ALFA)
AT=0.000007/1
(GnomAD)
AT=0.000015/4
(TOPMED)
AT=0.000071/1
(TOMMO)
- HGVS:
2.
rs1491575768 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 13:99800908
(GRCh38)
13:100453163
(GRCh37)
- Canonical SPDI:
- NC_000013.11:99800908::C
- Gene:
- CLYBL (Varview), CLYBL-AS3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.00185/22
(
ALFA)
C=0.00615/444
(GnomAD)
C=0.02763/463
(TOMMO)
- HGVS:
3.
rs1491573920 has merged into rs35539387 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 13:99851377
(GRCh38)
13:100503631
(GRCh37)
- Canonical SPDI:
- NC_000013.11:99851367:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000013.11:99851367:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000013.11:99851367:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000013.11:99851367:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000013.11:99851367:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000013.11:99851367:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000013.11:99851367:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000013.11:99851367:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000013.11:99851367:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000013.11:99851367:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000013.11:99851367:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000013.11:99851367:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000013.11:99851367:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:99851367:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:99851367:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:99851367:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:99851367:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:99851367:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:99851367:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- CLYBL (Varview), CLYBL-AS3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAA=0./0
(
ALFA)
-=0.1136/55
(NorthernSweden)
- HGVS:
NC_000013.11:g.99851377_99851390del, NC_000013.11:g.99851378_99851390del, NC_000013.11:g.99851379_99851390del, NC_000013.11:g.99851380_99851390del, NC_000013.11:g.99851381_99851390del, NC_000013.11:g.99851382_99851390del, NC_000013.11:g.99851383_99851390del, NC_000013.11:g.99851384_99851390del, NC_000013.11:g.99851386_99851390del, NC_000013.11:g.99851387_99851390del, NC_000013.11:g.99851388_99851390del, NC_000013.11:g.99851389_99851390del, NC_000013.11:g.99851390del, NC_000013.11:g.99851390dup, NC_000013.11:g.99851389_99851390dup, NC_000013.11:g.99851388_99851390dup, NC_000013.11:g.99851387_99851390dup, NC_000013.11:g.99851386_99851390dup, NC_000013.11:g.99851385_99851390dup, NC_000013.10:g.100503631_100503644del, NC_000013.10:g.100503632_100503644del, NC_000013.10:g.100503633_100503644del, NC_000013.10:g.100503634_100503644del, NC_000013.10:g.100503635_100503644del, NC_000013.10:g.100503636_100503644del, NC_000013.10:g.100503637_100503644del, NC_000013.10:g.100503638_100503644del, NC_000013.10:g.100503640_100503644del, NC_000013.10:g.100503641_100503644del, NC_000013.10:g.100503642_100503644del, NC_000013.10:g.100503643_100503644del, NC_000013.10:g.100503644del, NC_000013.10:g.100503644dup, NC_000013.10:g.100503643_100503644dup, NC_000013.10:g.100503642_100503644dup, NC_000013.10:g.100503641_100503644dup, NC_000013.10:g.100503640_100503644dup, NC_000013.10:g.100503639_100503644dup
4.
rs1491570915 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TG>-
[Show Flanks]
- Chromosome:
- 13:99609195
(GRCh38)
13:100261449
(GRCh37)
- Canonical SPDI:
- NC_000013.11:99609194:TG:
- Gene:
- CLYBL (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.005395/64
(
ALFA)
-=0.000307/35
(GnomAD)
-=0.001224/20
(TOMMO)
- HGVS:
5.
rs1491564067 has merged into rs1261596182 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CG>-,CGCG
[Show Flanks]
- Chromosome:
- 13:99894736
(GRCh38)
13:100546990
(GRCh37)
- Canonical SPDI:
- NC_000013.11:99894734:GCG:G,NC_000013.11:99894734:GCG:GCGCG
- Gene:
- CLYBL (Varview), CLYBL-AS3 (Varview)
- Functional Consequence:
- downstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GCGCG=0./0
(
ALFA)
-=0.00072/11
(TOMMO)
- HGVS:
6.
rs1491550062 has merged into rs35027014 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 13:99732180
(GRCh38)
13:100384434
(GRCh37)
- Canonical SPDI:
- NC_000013.11:99732169:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000013.11:99732169:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000013.11:99732169:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000013.11:99732169:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000013.11:99732169:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000013.11:99732169:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000013.11:99732169:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000013.11:99732169:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000013.11:99732169:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000013.11:99732169:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000013.11:99732169:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000013.11:99732169:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:99732169:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:99732169:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:99732169:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:99732169:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:99732169:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:99732169:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:99732169:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:99732169:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:99732169:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:99732169:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:99732169:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- CLYBL (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTT=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
- HGVS:
NC_000013.11:g.99732180_99732191del, NC_000013.11:g.99732181_99732191del, NC_000013.11:g.99732182_99732191del, NC_000013.11:g.99732183_99732191del, NC_000013.11:g.99732184_99732191del, NC_000013.11:g.99732185_99732191del, NC_000013.11:g.99732186_99732191del, NC_000013.11:g.99732187_99732191del, NC_000013.11:g.99732189_99732191del, NC_000013.11:g.99732190_99732191del, NC_000013.11:g.99732191del, NC_000013.11:g.99732191dup, NC_000013.11:g.99732190_99732191dup, NC_000013.11:g.99732189_99732191dup, NC_000013.11:g.99732188_99732191dup, NC_000013.11:g.99732187_99732191dup, NC_000013.11:g.99732186_99732191dup, NC_000013.11:g.99732185_99732191dup, NC_000013.11:g.99732184_99732191dup, NC_000013.11:g.99732183_99732191dup, NC_000013.11:g.99732182_99732191dup, NC_000013.11:g.99732179_99732191dup, NC_000013.11:g.99732191_99732192insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.100384434_100384445del, NC_000013.10:g.100384435_100384445del, NC_000013.10:g.100384436_100384445del, NC_000013.10:g.100384437_100384445del, NC_000013.10:g.100384438_100384445del, NC_000013.10:g.100384439_100384445del, NC_000013.10:g.100384440_100384445del, NC_000013.10:g.100384441_100384445del, NC_000013.10:g.100384443_100384445del, NC_000013.10:g.100384444_100384445del, NC_000013.10:g.100384445del, NC_000013.10:g.100384445dup, NC_000013.10:g.100384444_100384445dup, NC_000013.10:g.100384443_100384445dup, NC_000013.10:g.100384442_100384445dup, NC_000013.10:g.100384441_100384445dup, NC_000013.10:g.100384440_100384445dup, NC_000013.10:g.100384439_100384445dup, NC_000013.10:g.100384438_100384445dup, NC_000013.10:g.100384437_100384445dup, NC_000013.10:g.100384436_100384445dup, NC_000013.10:g.100384433_100384445dup, NC_000013.10:g.100384445_100384446insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
7.
rs1491548706 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 13:99633210
(GRCh38)
13:100285464
(GRCh37)
- Canonical SPDI:
- NC_000013.11:99633209:CA:
- Gene:
- CLYBL (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00008/1
(
ALFA)
-=0.00028/7
(TOMMO)
- HGVS:
8.
rs1491545911 has merged into rs1555324345 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 13:99880080
(GRCh38)
13:100532334
(GRCh37)
- Canonical SPDI:
- NC_000013.11:99880068:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000013.11:99880068:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000013.11:99880068:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000013.11:99880068:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000013.11:99880068:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000013.11:99880068:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000013.11:99880068:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000013.11:99880068:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000013.11:99880068:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000013.11:99880068:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000013.11:99880068:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:99880068:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:99880068:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:99880068:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- CLYBL (Varview), CLYBL-AS3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTT=0./0
(
ALFA)
TTT=0.0764/44
(NorthernSweden)
- HGVS:
NC_000013.11:g.99880080_99880085del, NC_000013.11:g.99880081_99880085del, NC_000013.11:g.99880082_99880085del, NC_000013.11:g.99880083_99880085del, NC_000013.11:g.99880084_99880085del, NC_000013.11:g.99880085del, NC_000013.11:g.99880085dup, NC_000013.11:g.99880084_99880085dup, NC_000013.11:g.99880083_99880085dup, NC_000013.11:g.99880082_99880085dup, NC_000013.11:g.99880081_99880085dup, NC_000013.11:g.99880080_99880085dup, NC_000013.11:g.99880079_99880085dup, NC_000013.11:g.99880078_99880085dup, NC_000013.10:g.100532334_100532339del, NC_000013.10:g.100532335_100532339del, NC_000013.10:g.100532336_100532339del, NC_000013.10:g.100532337_100532339del, NC_000013.10:g.100532338_100532339del, NC_000013.10:g.100532339del, NC_000013.10:g.100532339dup, NC_000013.10:g.100532338_100532339dup, NC_000013.10:g.100532337_100532339dup, NC_000013.10:g.100532336_100532339dup, NC_000013.10:g.100532335_100532339dup, NC_000013.10:g.100532334_100532339dup, NC_000013.10:g.100532333_100532339dup, NC_000013.10:g.100532332_100532339dup
9.
rs1491544865 has merged into rs1378390496 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- C>-,CC
[Show Flanks]
- Chromosome:
- 13:99608087
(GRCh38)
13:100260341
(GRCh37)
- Canonical SPDI:
- NC_000013.11:99608086:CC:C,NC_000013.11:99608086:CC:CCC
- Gene:
- CLYBL (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCC=0./0
(
ALFA)
-=0.05369/32
(NorthernSweden)
- HGVS:
10.
rs1491537592 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 13:99839876
(GRCh38)
13:100492130
(GRCh37)
- Canonical SPDI:
- NC_000013.11:99839874:ATA:A
- Gene:
- CLYBL (Varview), CLYBL-AS3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
-=0.000014/2
(GnomAD)
- HGVS:
13.
rs1491491587 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 13:99616167
(GRCh38)
13:100268421
(GRCh37)
- Canonical SPDI:
- NC_000013.11:99616166:TA:
- Gene:
- CLYBL (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.00008/1
(
ALFA)
-=0.00164/3
(Korea1K)
- HGVS:
14.
rs1491488066 has merged into rs71118498 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 13:99644017
(GRCh38)
13:100296271
(GRCh37)
- Canonical SPDI:
- NC_000013.11:99644004:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000013.11:99644004:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000013.11:99644004:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000013.11:99644004:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000013.11:99644004:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000013.11:99644004:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000013.11:99644004:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000013.11:99644004:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000013.11:99644004:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000013.11:99644004:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:99644004:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:99644004:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:99644004:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- CLYBL (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAA=0./0
(
ALFA)
-=0.0545/210
(ALSPAC)
- HGVS:
NC_000013.11:g.99644017_99644026del, NC_000013.11:g.99644018_99644026del, NC_000013.11:g.99644019_99644026del, NC_000013.11:g.99644020_99644026del, NC_000013.11:g.99644022_99644026del, NC_000013.11:g.99644023_99644026del, NC_000013.11:g.99644024_99644026del, NC_000013.11:g.99644025_99644026del, NC_000013.11:g.99644026del, NC_000013.11:g.99644026dup, NC_000013.11:g.99644025_99644026dup, NC_000013.11:g.99644024_99644026dup, NC_000013.11:g.99644006_99644026dup, NC_000013.10:g.100296271_100296280del, NC_000013.10:g.100296272_100296280del, NC_000013.10:g.100296273_100296280del, NC_000013.10:g.100296274_100296280del, NC_000013.10:g.100296276_100296280del, NC_000013.10:g.100296277_100296280del, NC_000013.10:g.100296278_100296280del, NC_000013.10:g.100296279_100296280del, NC_000013.10:g.100296280del, NC_000013.10:g.100296280dup, NC_000013.10:g.100296279_100296280dup, NC_000013.10:g.100296278_100296280dup, NC_000013.10:g.100296260_100296280dup
15.
rs1491482870 has merged into rs759844768 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 13:99713345
(GRCh38)
13:100365599
(GRCh37)
- Canonical SPDI:
- NC_000013.11:99713334:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000013.11:99713334:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000013.11:99713334:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000013.11:99713334:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000013.11:99713334:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000013.11:99713334:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000013.11:99713334:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000013.11:99713334:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000013.11:99713334:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000013.11:99713334:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000013.11:99713334:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000013.11:99713334:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:99713334:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:99713334:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:99713334:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:99713334:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:99713334:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:99713334:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:99713334:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:99713334:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:99713334:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:99713334:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:99713334:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:99713334:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:99713334:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:99713334:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- CLYBL (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTT=0./0
(
ALFA)
-=0.325/13
(GENOME_DK)
- HGVS:
NC_000013.11:g.99713345_99713357del, NC_000013.11:g.99713346_99713357del, NC_000013.11:g.99713347_99713357del, NC_000013.11:g.99713348_99713357del, NC_000013.11:g.99713349_99713357del, NC_000013.11:g.99713350_99713357del, NC_000013.11:g.99713351_99713357del, NC_000013.11:g.99713352_99713357del, NC_000013.11:g.99713353_99713357del, NC_000013.11:g.99713355_99713357del, NC_000013.11:g.99713356_99713357del, NC_000013.11:g.99713357del, NC_000013.11:g.99713357dup, NC_000013.11:g.99713356_99713357dup, NC_000013.11:g.99713355_99713357dup, NC_000013.11:g.99713354_99713357dup, NC_000013.11:g.99713353_99713357dup, NC_000013.11:g.99713352_99713357dup, NC_000013.11:g.99713351_99713357dup, NC_000013.11:g.99713350_99713357dup, NC_000013.11:g.99713349_99713357dup, NC_000013.11:g.99713348_99713357dup, NC_000013.11:g.99713341_99713357dup, NC_000013.11:g.99713340_99713357dup, NC_000013.11:g.99713337_99713357dup, NC_000013.11:g.99713336_99713357dup, NC_000013.10:g.100365599_100365611del, NC_000013.10:g.100365600_100365611del, NC_000013.10:g.100365601_100365611del, NC_000013.10:g.100365602_100365611del, NC_000013.10:g.100365603_100365611del, NC_000013.10:g.100365604_100365611del, NC_000013.10:g.100365605_100365611del, NC_000013.10:g.100365606_100365611del, NC_000013.10:g.100365607_100365611del, NC_000013.10:g.100365609_100365611del, NC_000013.10:g.100365610_100365611del, NC_000013.10:g.100365611del, NC_000013.10:g.100365611dup, NC_000013.10:g.100365610_100365611dup, NC_000013.10:g.100365609_100365611dup, NC_000013.10:g.100365608_100365611dup, NC_000013.10:g.100365607_100365611dup, NC_000013.10:g.100365606_100365611dup, NC_000013.10:g.100365605_100365611dup, NC_000013.10:g.100365604_100365611dup, NC_000013.10:g.100365603_100365611dup, NC_000013.10:g.100365602_100365611dup, NC_000013.10:g.100365595_100365611dup, NC_000013.10:g.100365594_100365611dup, NC_000013.10:g.100365591_100365611dup, NC_000013.10:g.100365590_100365611dup
16.
rs1491479840 has merged into rs34634591 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 13:99662521
(GRCh38)
13:100314775
(GRCh37)
- Canonical SPDI:
- NC_000013.11:99662510:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000013.11:99662510:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000013.11:99662510:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000013.11:99662510:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000013.11:99662510:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000013.11:99662510:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000013.11:99662510:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000013.11:99662510:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000013.11:99662510:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000013.11:99662510:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000013.11:99662510:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:99662510:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:99662510:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:99662510:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:99662510:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTT
- Gene:
- CLYBL (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTT=0./0
(
ALFA)
TT=0.2161/1082
(1000Genomes)
- HGVS:
NC_000013.11:g.99662521_99662529del, NC_000013.11:g.99662523_99662529del, NC_000013.11:g.99662524_99662529del, NC_000013.11:g.99662525_99662529del, NC_000013.11:g.99662526_99662529del, NC_000013.11:g.99662527_99662529del, NC_000013.11:g.99662528_99662529del, NC_000013.11:g.99662529del, NC_000013.11:g.99662529dup, NC_000013.11:g.99662528_99662529dup, NC_000013.11:g.99662527_99662529dup, NC_000013.11:g.99662526_99662529dup, NC_000013.11:g.99662525_99662529dup, NC_000013.11:g.99662524_99662529dup, NC_000013.11:g.99662511_99662529T[48]ATTTTTTTTTTTTTTTTTTTTTT[1], NC_000013.10:g.100314775_100314783del, NC_000013.10:g.100314777_100314783del, NC_000013.10:g.100314778_100314783del, NC_000013.10:g.100314779_100314783del, NC_000013.10:g.100314780_100314783del, NC_000013.10:g.100314781_100314783del, NC_000013.10:g.100314782_100314783del, NC_000013.10:g.100314783del, NC_000013.10:g.100314783dup, NC_000013.10:g.100314782_100314783dup, NC_000013.10:g.100314781_100314783dup, NC_000013.10:g.100314780_100314783dup, NC_000013.10:g.100314779_100314783dup, NC_000013.10:g.100314778_100314783dup, NC_000013.10:g.100314765_100314783T[48]ATTTTTTTTTTTTTTTTTTTTTT[1]
17.
rs1491479554 has merged into rs59801603 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 13:99633219
(GRCh38)
13:100285473
(GRCh37)
- Canonical SPDI:
- NC_000013.11:99633210:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000013.11:99633210:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000013.11:99633210:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000013.11:99633210:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000013.11:99633210:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000013.11:99633210:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000013.11:99633210:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000013.11:99633210:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000013.11:99633210:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000013.11:99633210:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000013.11:99633210:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000013.11:99633210:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000013.11:99633210:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:99633210:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:99633210:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:99633210:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:99633210:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:99633210:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:99633210:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:99633210:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:99633210:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:99633210:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:99633210:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:99633210:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:99633210:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:99633210:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:99633210:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- CLYBL (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAA=0./0
(
ALFA)
-=0.2472/1238
(1000Genomes)
- HGVS:
NC_000013.11:g.99633219_99633235del, NC_000013.11:g.99633222_99633235del, NC_000013.11:g.99633223_99633235del, NC_000013.11:g.99633224_99633235del, NC_000013.11:g.99633225_99633235del, NC_000013.11:g.99633226_99633235del, NC_000013.11:g.99633227_99633235del, NC_000013.11:g.99633228_99633235del, NC_000013.11:g.99633229_99633235del, NC_000013.11:g.99633230_99633235del, NC_000013.11:g.99633231_99633235del, NC_000013.11:g.99633232_99633235del, NC_000013.11:g.99633233_99633235del, NC_000013.11:g.99633234_99633235del, NC_000013.11:g.99633235del, NC_000013.11:g.99633235dup, NC_000013.11:g.99633234_99633235dup, NC_000013.11:g.99633233_99633235dup, NC_000013.11:g.99633232_99633235dup, NC_000013.11:g.99633231_99633235dup, NC_000013.11:g.99633230_99633235dup, NC_000013.11:g.99633229_99633235dup, NC_000013.11:g.99633228_99633235dup, NC_000013.11:g.99633227_99633235dup, NC_000013.11:g.99633226_99633235dup, NC_000013.11:g.99633224_99633235dup, NC_000013.11:g.99633235_99633236insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000013.10:g.100285473_100285489del, NC_000013.10:g.100285476_100285489del, NC_000013.10:g.100285477_100285489del, NC_000013.10:g.100285478_100285489del, NC_000013.10:g.100285479_100285489del, NC_000013.10:g.100285480_100285489del, NC_000013.10:g.100285481_100285489del, NC_000013.10:g.100285482_100285489del, NC_000013.10:g.100285483_100285489del, NC_000013.10:g.100285484_100285489del, NC_000013.10:g.100285485_100285489del, NC_000013.10:g.100285486_100285489del, NC_000013.10:g.100285487_100285489del, NC_000013.10:g.100285488_100285489del, NC_000013.10:g.100285489del, NC_000013.10:g.100285489dup, NC_000013.10:g.100285488_100285489dup, NC_000013.10:g.100285487_100285489dup, NC_000013.10:g.100285486_100285489dup, NC_000013.10:g.100285485_100285489dup, NC_000013.10:g.100285484_100285489dup, NC_000013.10:g.100285483_100285489dup, NC_000013.10:g.100285482_100285489dup, NC_000013.10:g.100285481_100285489dup, NC_000013.10:g.100285480_100285489dup, NC_000013.10:g.100285478_100285489dup, NC_000013.10:g.100285489_100285490insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
18.
rs1491474463 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 13:99696403
(GRCh38)
13:100348658
(GRCh37)
- Canonical SPDI:
- NC_000013.11:99696403:TTTTTTT:TTTTTTTT
- Gene:
- CLYBL (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTT=0.000071/1
(
ALFA)
T=0./0
(GnomAD)
T=0.000011/3
(TOPMED)
T=0.000425/7
(TOMMO)
- HGVS:
19.
rs1491465276 has merged into rs748011707 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTT>-,T,TT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 13:99710894
(GRCh38)
13:100363148
(GRCh37)
- Canonical SPDI:
- NC_000013.11:99710881:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000013.11:99710881:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000013.11:99710881:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000013.11:99710881:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000013.11:99710881:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000013.11:99710881:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000013.11:99710881:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000013.11:99710881:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000013.11:99710881:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:99710881:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:99710881:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:99710881:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:99710881:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:99710881:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:99710881:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:99710881:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:99710881:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- CLYBL (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTT=0./0
(
ALFA)
-=0.25/10
(GENOME_DK)
- HGVS:
NC_000013.11:g.99710894_99710904del, NC_000013.11:g.99710895_99710904del, NC_000013.11:g.99710896_99710904del, NC_000013.11:g.99710898_99710904del, NC_000013.11:g.99710899_99710904del, NC_000013.11:g.99710901_99710904del, NC_000013.11:g.99710902_99710904del, NC_000013.11:g.99710903_99710904del, NC_000013.11:g.99710904del, NC_000013.11:g.99710904dup, NC_000013.11:g.99710903_99710904dup, NC_000013.11:g.99710902_99710904dup, NC_000013.11:g.99710901_99710904dup, NC_000013.11:g.99710900_99710904dup, NC_000013.11:g.99710899_99710904dup, NC_000013.11:g.99710896_99710904dup, NC_000013.11:g.99710904_99710905insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.100363148_100363158del, NC_000013.10:g.100363149_100363158del, NC_000013.10:g.100363150_100363158del, NC_000013.10:g.100363152_100363158del, NC_000013.10:g.100363153_100363158del, NC_000013.10:g.100363155_100363158del, NC_000013.10:g.100363156_100363158del, NC_000013.10:g.100363157_100363158del, NC_000013.10:g.100363158del, NC_000013.10:g.100363158dup, NC_000013.10:g.100363157_100363158dup, NC_000013.10:g.100363156_100363158dup, NC_000013.10:g.100363155_100363158dup, NC_000013.10:g.100363154_100363158dup, NC_000013.10:g.100363153_100363158dup, NC_000013.10:g.100363150_100363158dup, NC_000013.10:g.100363158_100363159insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
20.
rs1491462101 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 13:99644004
(GRCh38)
13:100296258
(GRCh37)
- Canonical SPDI:
- NC_000013.11:99644003:CA:
- Gene:
- CLYBL (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00447/53
(
ALFA)
-=0.00149/24
(TOMMO)
- HGVS: