Links from Gene
Items: 1 to 20 of 16658
1.
rs1491559500 has merged into rs1164303193 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 11:9414630
(GRCh38)
11:9436177
(GRCh37)
- Canonical SPDI:
- NC_000011.10:9414619:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000011.10:9414619:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000011.10:9414619:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000011.10:9414619:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000011.10:9414619:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000011.10:9414619:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000011.10:9414619:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000011.10:9414619:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000011.10:9414619:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000011.10:9414619:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000011.10:9414619:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000011.10:9414619:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:9414619:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:9414619:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:9414619:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:9414619:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:9414619:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:9414619:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:9414619:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:9414619:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:9414619:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:9414619:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:9414619:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:9414619:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:9414619:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:9414619:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:9414619:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:9414619:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:9414619:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:9414619:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:9414619:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:9414619:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:9414619:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:9414619:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:9414619:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:9414619:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:9414619:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:9414619:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:9414619:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:9414619:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:9414619:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:9414619:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- IPO7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000011.10:g.9414630_9414646del, NC_000011.10:g.9414632_9414646del, NC_000011.10:g.9414633_9414646del, NC_000011.10:g.9414634_9414646del, NC_000011.10:g.9414635_9414646del, NC_000011.10:g.9414636_9414646del, NC_000011.10:g.9414637_9414646del, NC_000011.10:g.9414638_9414646del, NC_000011.10:g.9414639_9414646del, NC_000011.10:g.9414640_9414646del, NC_000011.10:g.9414641_9414646del, NC_000011.10:g.9414642_9414646del, NC_000011.10:g.9414643_9414646del, NC_000011.10:g.9414644_9414646del, NC_000011.10:g.9414645_9414646del, NC_000011.10:g.9414646del, NC_000011.10:g.9414646dup, NC_000011.10:g.9414645_9414646dup, NC_000011.10:g.9414644_9414646dup, NC_000011.10:g.9414643_9414646dup, NC_000011.10:g.9414642_9414646dup, NC_000011.10:g.9414641_9414646dup, NC_000011.10:g.9414640_9414646dup, NC_000011.10:g.9414639_9414646dup, NC_000011.10:g.9414638_9414646dup, NC_000011.10:g.9414637_9414646dup, NC_000011.10:g.9414636_9414646dup, NC_000011.10:g.9414635_9414646dup, NC_000011.10:g.9414634_9414646dup, NC_000011.10:g.9414633_9414646dup, NC_000011.10:g.9414632_9414646dup, NC_000011.10:g.9414631_9414646dup, NC_000011.10:g.9414630_9414646dup, NC_000011.10:g.9414629_9414646dup, NC_000011.10:g.9414628_9414646dup, NC_000011.10:g.9414627_9414646dup, NC_000011.10:g.9414626_9414646dup, NC_000011.10:g.9414625_9414646dup, NC_000011.10:g.9414624_9414646dup, NC_000011.10:g.9414623_9414646dup, NC_000011.10:g.9414622_9414646dup, NC_000011.10:g.9414646_9414647insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.9436177_9436193del, NC_000011.9:g.9436179_9436193del, NC_000011.9:g.9436180_9436193del, NC_000011.9:g.9436181_9436193del, NC_000011.9:g.9436182_9436193del, NC_000011.9:g.9436183_9436193del, NC_000011.9:g.9436184_9436193del, NC_000011.9:g.9436185_9436193del, NC_000011.9:g.9436186_9436193del, NC_000011.9:g.9436187_9436193del, NC_000011.9:g.9436188_9436193del, NC_000011.9:g.9436189_9436193del, NC_000011.9:g.9436190_9436193del, NC_000011.9:g.9436191_9436193del, NC_000011.9:g.9436192_9436193del, NC_000011.9:g.9436193del, NC_000011.9:g.9436193dup, NC_000011.9:g.9436192_9436193dup, NC_000011.9:g.9436191_9436193dup, NC_000011.9:g.9436190_9436193dup, NC_000011.9:g.9436189_9436193dup, NC_000011.9:g.9436188_9436193dup, NC_000011.9:g.9436187_9436193dup, NC_000011.9:g.9436186_9436193dup, NC_000011.9:g.9436185_9436193dup, NC_000011.9:g.9436184_9436193dup, NC_000011.9:g.9436183_9436193dup, NC_000011.9:g.9436182_9436193dup, NC_000011.9:g.9436181_9436193dup, NC_000011.9:g.9436180_9436193dup, NC_000011.9:g.9436179_9436193dup, NC_000011.9:g.9436178_9436193dup, NC_000011.9:g.9436177_9436193dup, NC_000011.9:g.9436176_9436193dup, NC_000011.9:g.9436175_9436193dup, NC_000011.9:g.9436174_9436193dup, NC_000011.9:g.9436173_9436193dup, NC_000011.9:g.9436172_9436193dup, NC_000011.9:g.9436171_9436193dup, NC_000011.9:g.9436170_9436193dup, NC_000011.9:g.9436169_9436193dup, NC_000011.9:g.9436193_9436194insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
2.
rs1491511384 has merged into rs869227367 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 11:9436883
(GRCh38)
11:9458430
(GRCh37)
- Canonical SPDI:
- NC_000011.10:9436868:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000011.10:9436868:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000011.10:9436868:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000011.10:9436868:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000011.10:9436868:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000011.10:9436868:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000011.10:9436868:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000011.10:9436868:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:9436868:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:9436868:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:9436868:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:9436868:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:9436868:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:9436868:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:9436868:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:9436868:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:9436868:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:9436868:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:9436868:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:9436868:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:9436868:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:9436868:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:9436868:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:9436868:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:9436868:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:9436868:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:9436868:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- IPO7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.01934/296
(TOMMO)
- HGVS:
NC_000011.10:g.9436883_9436903del, NC_000011.10:g.9436884_9436903del, NC_000011.10:g.9436885_9436903del, NC_000011.10:g.9436886_9436903del, NC_000011.10:g.9436888_9436903del, NC_000011.10:g.9436889_9436903del, NC_000011.10:g.9436890_9436903del, NC_000011.10:g.9436891_9436903del, NC_000011.10:g.9436892_9436903del, NC_000011.10:g.9436893_9436903del, NC_000011.10:g.9436894_9436903del, NC_000011.10:g.9436895_9436903del, NC_000011.10:g.9436896_9436903del, NC_000011.10:g.9436897_9436903del, NC_000011.10:g.9436898_9436903del, NC_000011.10:g.9436899_9436903del, NC_000011.10:g.9436900_9436903del, NC_000011.10:g.9436901_9436903del, NC_000011.10:g.9436902_9436903del, NC_000011.10:g.9436903del, NC_000011.10:g.9436903dup, NC_000011.10:g.9436902_9436903dup, NC_000011.10:g.9436901_9436903dup, NC_000011.10:g.9436900_9436903dup, NC_000011.10:g.9436899_9436903dup, NC_000011.10:g.9436898_9436903dup, NC_000011.10:g.9436897_9436903dup, NC_000011.9:g.9458430_9458450del, NC_000011.9:g.9458431_9458450del, NC_000011.9:g.9458432_9458450del, NC_000011.9:g.9458433_9458450del, NC_000011.9:g.9458435_9458450del, NC_000011.9:g.9458436_9458450del, NC_000011.9:g.9458437_9458450del, NC_000011.9:g.9458438_9458450del, NC_000011.9:g.9458439_9458450del, NC_000011.9:g.9458440_9458450del, NC_000011.9:g.9458441_9458450del, NC_000011.9:g.9458442_9458450del, NC_000011.9:g.9458443_9458450del, NC_000011.9:g.9458444_9458450del, NC_000011.9:g.9458445_9458450del, NC_000011.9:g.9458446_9458450del, NC_000011.9:g.9458447_9458450del, NC_000011.9:g.9458448_9458450del, NC_000011.9:g.9458449_9458450del, NC_000011.9:g.9458450del, NC_000011.9:g.9458450dup, NC_000011.9:g.9458449_9458450dup, NC_000011.9:g.9458448_9458450dup, NC_000011.9:g.9458447_9458450dup, NC_000011.9:g.9458446_9458450dup, NC_000011.9:g.9458445_9458450dup, NC_000011.9:g.9458444_9458450dup
4.
rs1491474477 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 11:9402399
(GRCh38)
11:9423946
(GRCh37)
- Canonical SPDI:
- NC_000011.10:9402398:CA:
- Gene:
- IPO7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00253/30
(
ALFA)
-=0.00088/14
(TOMMO)
- HGVS:
5.
rs1491472277 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A,ACATATATATA,ATA,ATATA,ATATATA,ATATATAGATA,ATATATATA,ATATATATATA,ATATATATATATA,ATATATATATATATA,ATATATATATATATATA,ATATATATATATATATATA,ATATATATATATATATATATA,ATATATATATATATATATATATA,ATATATATATATATATATATATATA,ATATATATATATATATATATATATATA,ATATATATATATATATATATATATATATATA,ATATATATATGTA,ATATG
[Show Flanks]
- Chromosome:
- 11:9436869
(GRCh38)
11:9458417
(GRCh37)
- Canonical SPDI:
- NC_000011.10:9436869::A,NC_000011.10:9436869::ACATATATATA,NC_000011.10:9436869::ATA,NC_000011.10:9436869::ATATA,NC_000011.10:9436869::ATATATA,NC_000011.10:9436869::ATATATAGATA,NC_000011.10:9436869::ATATATATA,NC_000011.10:9436869::ATATATATATA,NC_000011.10:9436869::ATATATATATATA,NC_000011.10:9436869::ATATATATATATATA,NC_000011.10:9436869::ATATATATATATATATA,NC_000011.10:9436869::ATATATATATATATATATA,NC_000011.10:9436869::ATATATATATATATATATATA,NC_000011.10:9436869::ATATATATATATATATATATATA,NC_000011.10:9436869::ATATATATATATATATATATATATA,NC_000011.10:9436869::ATATATATATATATATATATATATATA,NC_000011.10:9436869::ATATATATATATATATATATATATATATATA,NC_000011.10:9436869::ATATATATATGTA,NC_000011.10:9436869::ATATG
- Gene:
- IPO7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACATATATATA=0./0
(
ALFA)
ATATG=0.000004/1
(TOPMED)
- HGVS:
NC_000011.10:g.9436869_9436870insA, NC_000011.10:g.9436869_9436870insACATATATATA, NC_000011.10:g.9436869_9436870insATA, NC_000011.10:g.9436869_9436870insATATA, NC_000011.10:g.9436869_9436870insATATATA, NC_000011.10:g.9436869_9436870insATATATAGATA, NC_000011.10:g.9436869_9436870insATATATATA, NC_000011.10:g.9436869_9436870insATATATATATA, NC_000011.10:g.9436869_9436870insATATATATATATA, NC_000011.10:g.9436869_9436870insATATATATATATATA, NC_000011.10:g.9436869_9436870insATATATATATATATATA, NC_000011.10:g.9436869_9436870insATATATATATATATATATA, NC_000011.10:g.9436869_9436870insATATATATATATATATATATA, NC_000011.10:g.9436869_9436870insATATATATATATATATATATATA, NC_000011.10:g.9436869_9436870insATATATATATATATATATATATATA, NC_000011.10:g.9436869_9436870insATATATATATATATATATATATATATA, NC_000011.10:g.9436869_9436870insATATATATATATATATATATATATATATATA, NC_000011.10:g.9436869_9436870insATATATATATGTA, NC_000011.10:g.9436869_9436870insATATG, NC_000011.9:g.9458416_9458417insA, NC_000011.9:g.9458416_9458417insACATATATATA, NC_000011.9:g.9458416_9458417insATA, NC_000011.9:g.9458416_9458417insATATA, NC_000011.9:g.9458416_9458417insATATATA, NC_000011.9:g.9458416_9458417insATATATAGATA, NC_000011.9:g.9458416_9458417insATATATATA, NC_000011.9:g.9458416_9458417insATATATATATA, NC_000011.9:g.9458416_9458417insATATATATATATA, NC_000011.9:g.9458416_9458417insATATATATATATATA, NC_000011.9:g.9458416_9458417insATATATATATATATATA, NC_000011.9:g.9458416_9458417insATATATATATATATATATA, NC_000011.9:g.9458416_9458417insATATATATATATATATATATA, NC_000011.9:g.9458416_9458417insATATATATATATATATATATATA, NC_000011.9:g.9458416_9458417insATATATATATATATATATATATATA, NC_000011.9:g.9458416_9458417insATATATATATATATATATATATATATA, NC_000011.9:g.9458416_9458417insATATATATATATATATATATATATATATATA, NC_000011.9:g.9458416_9458417insATATATATATGTA, NC_000011.9:g.9458416_9458417insATATG
6.
rs1491415986 has merged into rs1238499611 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 11:9397340
(GRCh38)
11:9418887
(GRCh37)
- Canonical SPDI:
- NC_000011.10:9397333:AAAAAAAAA:AAAAAA,NC_000011.10:9397333:AAAAAAAAA:AAAAAAA,NC_000011.10:9397333:AAAAAAAAA:AAAAAAAA,NC_000011.10:9397333:AAAAAAAAA:AAAAAAAAAA,NC_000011.10:9397333:AAAAAAAAA:AAAAAAAAAAA,NC_000011.10:9397333:AAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:9397333:AAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:9397333:AAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:9397333:AAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:9397333:AAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:9397333:AAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:9397333:AAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:9397333:AAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:9397333:AAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000011.10:9397333:AAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000011.10:9397333:AAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:9397333:AAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:9397333:AAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:9397333:AAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- IPO7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAA=0./0
(
ALFA)
AAAAA=0.0018/2
(Korea1K)
- HGVS:
NC_000011.10:g.9397340_9397342del, NC_000011.10:g.9397341_9397342del, NC_000011.10:g.9397342del, NC_000011.10:g.9397342dup, NC_000011.10:g.9397341_9397342dup, NC_000011.10:g.9397340_9397342dup, NC_000011.10:g.9397339_9397342dup, NC_000011.10:g.9397338_9397342dup, NC_000011.10:g.9397337_9397342dup, NC_000011.10:g.9397336_9397342dup, NC_000011.10:g.9397335_9397342dup, NC_000011.10:g.9397334_9397342dup, NC_000011.10:g.9397342_9397343insAAAAAAAAAA, NC_000011.10:g.9397342_9397343insAAAAAAAAAAA, NC_000011.10:g.9397342_9397343insAAAAAAAAAAAA, NC_000011.10:g.9397342_9397343insAAAAAAAAAAAAA, NC_000011.10:g.9397342_9397343insAAAAAAAAAAAAAAAA, NC_000011.10:g.9397342_9397343insAAAAAAAAAAAAAAAAA, NC_000011.10:g.9397342_9397343insAAAAAAAAAAAAAAAAAAA, NC_000011.9:g.9418887_9418889del, NC_000011.9:g.9418888_9418889del, NC_000011.9:g.9418889del, NC_000011.9:g.9418889dup, NC_000011.9:g.9418888_9418889dup, NC_000011.9:g.9418887_9418889dup, NC_000011.9:g.9418886_9418889dup, NC_000011.9:g.9418885_9418889dup, NC_000011.9:g.9418884_9418889dup, NC_000011.9:g.9418883_9418889dup, NC_000011.9:g.9418882_9418889dup, NC_000011.9:g.9418881_9418889dup, NC_000011.9:g.9418889_9418890insAAAAAAAAAA, NC_000011.9:g.9418889_9418890insAAAAAAAAAAA, NC_000011.9:g.9418889_9418890insAAAAAAAAAAAA, NC_000011.9:g.9418889_9418890insAAAAAAAAAAAAA, NC_000011.9:g.9418889_9418890insAAAAAAAAAAAAAAAA, NC_000011.9:g.9418889_9418890insAAAAAAAAAAAAAAAAA, NC_000011.9:g.9418889_9418890insAAAAAAAAAAAAAAAAAAA
7.
rs1491403775 has merged into rs11330854 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 11:9401573
(GRCh38)
11:9423120
(GRCh37)
- Canonical SPDI:
- NC_000011.10:9401561:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000011.10:9401561:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:9401561:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:9401561:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:9401561:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:9401561:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:9401561:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:9401561:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:9401561:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000011.10:9401561:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:9401561:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- IPO7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAA=0./0
(
ALFA)
-=0.1617/623
(ALSPAC)
A=0.4567/2287
(1000Genomes)
- HGVS:
NC_000011.10:g.9401573_9401578del, NC_000011.10:g.9401574_9401578del, NC_000011.10:g.9401575_9401578del, NC_000011.10:g.9401576_9401578del, NC_000011.10:g.9401577_9401578del, NC_000011.10:g.9401578del, NC_000011.10:g.9401578dup, NC_000011.10:g.9401577_9401578dup, NC_000011.10:g.9401576_9401578dup, NC_000011.10:g.9401568_9401578dup, NC_000011.10:g.9401578_9401579insAAAAAAAAAAAAAAAAAAAAA, NC_000011.9:g.9423120_9423125del, NC_000011.9:g.9423121_9423125del, NC_000011.9:g.9423122_9423125del, NC_000011.9:g.9423123_9423125del, NC_000011.9:g.9423124_9423125del, NC_000011.9:g.9423125del, NC_000011.9:g.9423125dup, NC_000011.9:g.9423124_9423125dup, NC_000011.9:g.9423123_9423125dup, NC_000011.9:g.9423115_9423125dup, NC_000011.9:g.9423125_9423126insAAAAAAAAAAAAAAAAAAAAA
8.
rs1491402351 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TGTA
[Show Flanks]
- Chromosome:
- 11:9403852
(GRCh38)
11:9425400
(GRCh37)
- Canonical SPDI:
- NC_000011.10:9403852:TGTA:TGTATGTA
- Gene:
- IPO7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TGTATGTA=0./0
(
ALFA)
TGTA=0.000007/1
(GnomAD)
- HGVS:
9.
rs1491379445 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 11:9397333
(GRCh38)
11:9418880
(GRCh37)
- Canonical SPDI:
- NC_000011.10:9397332:TA:
- Gene:
- IPO7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.00034/4
(
ALFA)
-=0.00177/20
(GnomAD)
- HGVS:
10.
rs1491362139 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AG>-
[Show Flanks]
- Chromosome:
- 11:9438044
(GRCh38)
11:9459591
(GRCh37)
- Canonical SPDI:
- NC_000011.10:9438043:AG:
- Gene:
- IPO7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000012/2
(GnomAD_exomes)
-=0.000019/2
(ExAC)
- HGVS:
11.
rs1491345238 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 11:9408230
(GRCh38)
11:9429777
(GRCh37)
- Canonical SPDI:
- NC_000011.10:9408228:ACA:A
- Gene:
- IPO7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000019/5
(TOPMED)
- HGVS:
12.
rs1491313966 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 11:9401561
(GRCh38)
11:9423108
(GRCh37)
- Canonical SPDI:
- NC_000011.10:9401560:TA:
- Gene:
- IPO7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.00001/1
(GnomAD)
- HGVS:
13.
rs1491283330 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 11:9393440
(GRCh38)
11:9414988
(GRCh37)
- Canonical SPDI:
- NC_000011.10:9393440:A:AA
- Gene:
- IPO7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
AA=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
14.
rs1491125192 has merged into rs71062846 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 11:9402410
(GRCh38)
11:9423957
(GRCh37)
- Canonical SPDI:
- NC_000011.10:9402399:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000011.10:9402399:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000011.10:9402399:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:9402399:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:9402399:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:9402399:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:9402399:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:9402399:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:9402399:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:9402399:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:9402399:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000011.10:9402399:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000011.10:9402399:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:9402399:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:9402399:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:9402399:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:9402399:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:9402399:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:9402399:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:9402399:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:9402399:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:9402399:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:9402399:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:9402399:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:9402399:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:9402399:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:9402399:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:9402399:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:9402399:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:9402399:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:9402399:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:9402399:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:9402399:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:9402399:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:9402399:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:9402399:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:9402399:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:9402399:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:9402399:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:9402399:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:9402399:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:9402399:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:9402399:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- IPO7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000011.10:g.9402410_9402427del, NC_000011.10:g.9402411_9402427del, NC_000011.10:g.9402412_9402427del, NC_000011.10:g.9402413_9402427del, NC_000011.10:g.9402414_9402427del, NC_000011.10:g.9402415_9402427del, NC_000011.10:g.9402416_9402427del, NC_000011.10:g.9402417_9402427del, NC_000011.10:g.9402418_9402427del, NC_000011.10:g.9402419_9402427del, NC_000011.10:g.9402420_9402427del, NC_000011.10:g.9402421_9402427del, NC_000011.10:g.9402422_9402427del, NC_000011.10:g.9402423_9402427del, NC_000011.10:g.9402424_9402427del, NC_000011.10:g.9402425_9402427del, NC_000011.10:g.9402426_9402427del, NC_000011.10:g.9402427del, NC_000011.10:g.9402427dup, NC_000011.10:g.9402426_9402427dup, NC_000011.10:g.9402425_9402427dup, NC_000011.10:g.9402424_9402427dup, NC_000011.10:g.9402423_9402427dup, NC_000011.10:g.9402422_9402427dup, NC_000011.10:g.9402421_9402427dup, NC_000011.10:g.9402420_9402427dup, NC_000011.10:g.9402419_9402427dup, NC_000011.10:g.9402418_9402427dup, NC_000011.10:g.9402417_9402427dup, NC_000011.10:g.9402416_9402427dup, NC_000011.10:g.9402415_9402427dup, NC_000011.10:g.9402413_9402427dup, NC_000011.10:g.9402412_9402427dup, NC_000011.10:g.9402411_9402427dup, NC_000011.10:g.9402410_9402427dup, NC_000011.10:g.9402409_9402427dup, NC_000011.10:g.9402408_9402427dup, NC_000011.10:g.9402407_9402427dup, NC_000011.10:g.9402406_9402427dup, NC_000011.10:g.9402405_9402427dup, NC_000011.10:g.9402404_9402427dup, NC_000011.10:g.9402402_9402427dup, NC_000011.10:g.9402427_9402428insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.9:g.9423957_9423974del, NC_000011.9:g.9423958_9423974del, NC_000011.9:g.9423959_9423974del, NC_000011.9:g.9423960_9423974del, NC_000011.9:g.9423961_9423974del, NC_000011.9:g.9423962_9423974del, NC_000011.9:g.9423963_9423974del, NC_000011.9:g.9423964_9423974del, NC_000011.9:g.9423965_9423974del, NC_000011.9:g.9423966_9423974del, NC_000011.9:g.9423967_9423974del, NC_000011.9:g.9423968_9423974del, NC_000011.9:g.9423969_9423974del, NC_000011.9:g.9423970_9423974del, NC_000011.9:g.9423971_9423974del, NC_000011.9:g.9423972_9423974del, NC_000011.9:g.9423973_9423974del, NC_000011.9:g.9423974del, NC_000011.9:g.9423974dup, NC_000011.9:g.9423973_9423974dup, NC_000011.9:g.9423972_9423974dup, NC_000011.9:g.9423971_9423974dup, NC_000011.9:g.9423970_9423974dup, NC_000011.9:g.9423969_9423974dup, NC_000011.9:g.9423968_9423974dup, NC_000011.9:g.9423967_9423974dup, NC_000011.9:g.9423966_9423974dup, NC_000011.9:g.9423965_9423974dup, NC_000011.9:g.9423964_9423974dup, NC_000011.9:g.9423963_9423974dup, NC_000011.9:g.9423962_9423974dup, NC_000011.9:g.9423960_9423974dup, NC_000011.9:g.9423959_9423974dup, NC_000011.9:g.9423958_9423974dup, NC_000011.9:g.9423957_9423974dup, NC_000011.9:g.9423956_9423974dup, NC_000011.9:g.9423955_9423974dup, NC_000011.9:g.9423954_9423974dup, NC_000011.9:g.9423953_9423974dup, NC_000011.9:g.9423952_9423974dup, NC_000011.9:g.9423951_9423974dup, NC_000011.9:g.9423949_9423974dup, NC_000011.9:g.9423974_9423975insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
15.
rs1491017199 has merged into rs570129815 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAA>-,AA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 11:9402861
(GRCh38)
11:9424408
(GRCh37)
- Canonical SPDI:
- NC_000011.10:9402851:AAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000011.10:9402851:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000011.10:9402851:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:9402851:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:9402851:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:9402851:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:9402851:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:9402851:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
- Gene:
- IPO7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAA=0./0
(
ALFA)
A=0.03859/23
(NorthernSweden)
- HGVS:
NC_000011.10:g.9402861_9402867del, NC_000011.10:g.9402863_9402867del, NC_000011.10:g.9402865_9402867del, NC_000011.10:g.9402866_9402867del, NC_000011.10:g.9402867del, NC_000011.10:g.9402867dup, NC_000011.10:g.9402866_9402867dup, NC_000011.10:g.9402862_9402867dup, NC_000011.9:g.9424408_9424414del, NC_000011.9:g.9424410_9424414del, NC_000011.9:g.9424412_9424414del, NC_000011.9:g.9424413_9424414del, NC_000011.9:g.9424414del, NC_000011.9:g.9424414dup, NC_000011.9:g.9424413_9424414dup, NC_000011.9:g.9424409_9424414dup
16.
rs1490972440 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:9435442
(GRCh38)
11:9456989
(GRCh37)
- Canonical SPDI:
- NC_000011.10:9435441:A:G
- Gene:
- IPO7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
G=0.000106/2
(TOMMO)
G=0.000546/1
(Korea1K)
G=0.001027/3
(KOREAN)
- HGVS:
17.
rs1490750102 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 11:9427671
(GRCh38)
11:9449218
(GRCh37)
- Canonical SPDI:
- NC_000011.10:9427667:TCTCT:TCT
- Gene:
- IPO7 (Varview), SNORA23 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TCT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000035/1
(TOMMO)
- HGVS:
18.
rs1490736545 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:9417976
(GRCh38)
11:9439523
(GRCh37)
- Canonical SPDI:
- NC_000011.10:9417975:G:A
- Gene:
- IPO7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
19.
rs1490704935 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 11:9426912
(GRCh38)
11:9448459
(GRCh37)
- Canonical SPDI:
- NC_000011.10:9426911:C:G
- Gene:
- IPO7 (Varview), SNORA23 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
20.
rs1490660969 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 11:9448197
(GRCh38)
11:9469744
(GRCh37)
- Canonical SPDI:
- NC_000011.10:9448196:G:T
- Gene:
- IPO7 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS: