Links from Gene
Items: 1 to 20 of 32457
1.
rs1491553074 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 2:70052515
(GRCh38)
2:70279648
(GRCh37)
- Canonical SPDI:
- NC_000002.12:70052515:C:CC
- Gene:
- ASPRV1 (Varview), PCBP1-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
CC=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
2.
rs1491532806 has merged into rs919345838 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTT>-,TTT,TTTTT
[Show Flanks]
- Chromosome:
- 2:70037738
(GRCh38)
2:70264870
(GRCh37)
- Canonical SPDI:
- NC_000002.12:70037733:TTTTTTTT:TTTT,NC_000002.12:70037733:TTTTTTTT:TTTTTTT,NC_000002.12:70037733:TTTTTTTT:TTTTTTTTT
- Gene:
- ASPRV1 (Varview), PCBP1-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTT=0./0
(
ALFA)
T=0.00004/1
(TOMMO)
- HGVS:
3.
rs1491494925 has merged into rs57609306 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 2:70027269
(GRCh38)
2:70254401
(GRCh37)
- Canonical SPDI:
- NC_000002.12:70027259:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000002.12:70027259:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:70027259:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:70027259:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:70027259:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:70027259:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:70027259:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:70027259:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:70027259:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:70027259:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:70027259:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:70027259:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:70027259:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:70027259:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:70027259:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:70027259:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:70027259:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:70027259:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:70027259:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:70027259:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:70027259:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:70027259:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:70027259:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:70027259:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- ASPRV1 (Varview), PCBP1-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAA=0./0
(
ALFA)
AAAAAAAAAAAAA=0./0
(GENOME_DK)
- HGVS:
NC_000002.12:g.70027269_70027284del, NC_000002.12:g.70027271_70027284del, NC_000002.12:g.70027272_70027284del, NC_000002.12:g.70027273_70027284del, NC_000002.12:g.70027274_70027284del, NC_000002.12:g.70027275_70027284del, NC_000002.12:g.70027276_70027284del, NC_000002.12:g.70027278_70027284del, NC_000002.12:g.70027279_70027284del, NC_000002.12:g.70027280_70027284del, NC_000002.12:g.70027281_70027284del, NC_000002.12:g.70027282_70027284del, NC_000002.12:g.70027283_70027284del, NC_000002.12:g.70027284del, NC_000002.12:g.70027284dup, NC_000002.12:g.70027283_70027284dup, NC_000002.12:g.70027282_70027284dup, NC_000002.12:g.70027281_70027284dup, NC_000002.12:g.70027280_70027284dup, NC_000002.12:g.70027279_70027284dup, NC_000002.12:g.70027278_70027284dup, NC_000002.12:g.70027276_70027284dup, NC_000002.12:g.70027275_70027284dup, NC_000002.12:g.70027284_70027285insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.70254401_70254416del, NC_000002.11:g.70254403_70254416del, NC_000002.11:g.70254404_70254416del, NC_000002.11:g.70254405_70254416del, NC_000002.11:g.70254406_70254416del, NC_000002.11:g.70254407_70254416del, NC_000002.11:g.70254408_70254416del, NC_000002.11:g.70254410_70254416del, NC_000002.11:g.70254411_70254416del, NC_000002.11:g.70254412_70254416del, NC_000002.11:g.70254413_70254416del, NC_000002.11:g.70254414_70254416del, NC_000002.11:g.70254415_70254416del, NC_000002.11:g.70254416del, NC_000002.11:g.70254416dup, NC_000002.11:g.70254415_70254416dup, NC_000002.11:g.70254414_70254416dup, NC_000002.11:g.70254413_70254416dup, NC_000002.11:g.70254412_70254416dup, NC_000002.11:g.70254411_70254416dup, NC_000002.11:g.70254410_70254416dup, NC_000002.11:g.70254408_70254416dup, NC_000002.11:g.70254407_70254416dup, NC_000002.11:g.70254416_70254417insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
6.
rs1491411684 has merged into rs56740759 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 2:69999666
(GRCh38)
2:70226798
(GRCh37)
- Canonical SPDI:
- NC_000002.12:69999655:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:69999655:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:69999655:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:69999655:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:69999655:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:69999655:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:69999655:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:69999655:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:69999655:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:69999655:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:69999655:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:69999655:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:69999655:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:69999655:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:69999655:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:69999655:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:69999655:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:69999655:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:69999655:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- ASPRV1 (Varview), PCBP1-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000002.12:g.69999666_69999678del, NC_000002.12:g.69999667_69999678del, NC_000002.12:g.69999668_69999678del, NC_000002.12:g.69999669_69999678del, NC_000002.12:g.69999670_69999678del, NC_000002.12:g.69999671_69999678del, NC_000002.12:g.69999673_69999678del, NC_000002.12:g.69999674_69999678del, NC_000002.12:g.69999675_69999678del, NC_000002.12:g.69999676_69999678del, NC_000002.12:g.69999677_69999678del, NC_000002.12:g.69999678del, NC_000002.12:g.69999678dup, NC_000002.12:g.69999677_69999678dup, NC_000002.12:g.69999676_69999678dup, NC_000002.12:g.69999675_69999678dup, NC_000002.12:g.69999674_69999678dup, NC_000002.12:g.69999673_69999678dup, NC_000002.12:g.69999672_69999678dup, NC_000002.11:g.70226798_70226810del, NC_000002.11:g.70226799_70226810del, NC_000002.11:g.70226800_70226810del, NC_000002.11:g.70226801_70226810del, NC_000002.11:g.70226802_70226810del, NC_000002.11:g.70226803_70226810del, NC_000002.11:g.70226805_70226810del, NC_000002.11:g.70226806_70226810del, NC_000002.11:g.70226807_70226810del, NC_000002.11:g.70226808_70226810del, NC_000002.11:g.70226809_70226810del, NC_000002.11:g.70226810del, NC_000002.11:g.70226810dup, NC_000002.11:g.70226809_70226810dup, NC_000002.11:g.70226808_70226810dup, NC_000002.11:g.70226807_70226810dup, NC_000002.11:g.70226806_70226810dup, NC_000002.11:g.70226805_70226810dup, NC_000002.11:g.70226804_70226810dup
7.
rs1491408278 has merged into rs57858538 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAAAAAA>-,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 2:70014799
(GRCh38)
2:70241931
(GRCh37)
- Canonical SPDI:
- NC_000002.12:70014796:AAAAAAAAAAAAAAAAAAAAAA:AA,NC_000002.12:70014796:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAA,NC_000002.12:70014796:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000002.12:70014796:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:70014796:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:70014796:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:70014796:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:70014796:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:70014796:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:70014796:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:70014796:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:70014796:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:70014796:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:70014796:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:70014796:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:70014796:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:70014796:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:70014796:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:70014796:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:70014796:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:70014796:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:70014796:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:70014796:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:70014796:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:70014796:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:70014796:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:70014796:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:70014796:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:70014796:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:70014796:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:70014796:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:70014796:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:70014796:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:70014796:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:70014796:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:70014796:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:70014796:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:70014796:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:70014796:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- ASPRV1 (Varview), PCBP1-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AA=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.117013/586
(1000Genomes)
- HGVS:
NC_000002.12:g.70014799_70014818del, NC_000002.12:g.70014804_70014818del, NC_000002.12:g.70014805_70014818del, NC_000002.12:g.70014807_70014818del, NC_000002.12:g.70014808_70014818del, NC_000002.12:g.70014809_70014818del, NC_000002.12:g.70014810_70014818del, NC_000002.12:g.70014811_70014818del, NC_000002.12:g.70014812_70014818del, NC_000002.12:g.70014813_70014818del, NC_000002.12:g.70014814_70014818del, NC_000002.12:g.70014815_70014818del, NC_000002.12:g.70014816_70014818del, NC_000002.12:g.70014817_70014818del, NC_000002.12:g.70014818del, NC_000002.12:g.70014818dup, NC_000002.12:g.70014817_70014818dup, NC_000002.12:g.70014816_70014818dup, NC_000002.12:g.70014815_70014818dup, NC_000002.12:g.70014814_70014818dup, NC_000002.12:g.70014813_70014818dup, NC_000002.12:g.70014812_70014818dup, NC_000002.12:g.70014811_70014818dup, NC_000002.12:g.70014810_70014818dup, NC_000002.12:g.70014809_70014818dup, NC_000002.12:g.70014808_70014818dup, NC_000002.12:g.70014807_70014818dup, NC_000002.12:g.70014806_70014818dup, NC_000002.12:g.70014805_70014818dup, NC_000002.12:g.70014804_70014818dup, NC_000002.12:g.70014803_70014818dup, NC_000002.12:g.70014802_70014818dup, NC_000002.12:g.70014801_70014818dup, NC_000002.12:g.70014798_70014818dup, NC_000002.12:g.70014818_70014819insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.70014818_70014819insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.70014818_70014819insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.70014797_70014818A[26]TAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000002.12:g.70014797_70014818A[22]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000002.11:g.70241931_70241950del, NC_000002.11:g.70241936_70241950del, NC_000002.11:g.70241937_70241950del, NC_000002.11:g.70241939_70241950del, NC_000002.11:g.70241940_70241950del, NC_000002.11:g.70241941_70241950del, NC_000002.11:g.70241942_70241950del, NC_000002.11:g.70241943_70241950del, NC_000002.11:g.70241944_70241950del, NC_000002.11:g.70241945_70241950del, NC_000002.11:g.70241946_70241950del, NC_000002.11:g.70241947_70241950del, NC_000002.11:g.70241948_70241950del, NC_000002.11:g.70241949_70241950del, NC_000002.11:g.70241950del, NC_000002.11:g.70241950dup, NC_000002.11:g.70241949_70241950dup, NC_000002.11:g.70241948_70241950dup, NC_000002.11:g.70241947_70241950dup, NC_000002.11:g.70241946_70241950dup, NC_000002.11:g.70241945_70241950dup, NC_000002.11:g.70241944_70241950dup, NC_000002.11:g.70241943_70241950dup, NC_000002.11:g.70241942_70241950dup, NC_000002.11:g.70241941_70241950dup, NC_000002.11:g.70241940_70241950dup, NC_000002.11:g.70241939_70241950dup, NC_000002.11:g.70241938_70241950dup, NC_000002.11:g.70241937_70241950dup, NC_000002.11:g.70241936_70241950dup, NC_000002.11:g.70241935_70241950dup, NC_000002.11:g.70241934_70241950dup, NC_000002.11:g.70241933_70241950dup, NC_000002.11:g.70241930_70241950dup, NC_000002.11:g.70241950_70241951insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.70241950_70241951insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.70241950_70241951insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.70241929_70241950A[26]TAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000002.11:g.70241929_70241950A[22]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
8.
rs1491373377 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 2:69971182
(GRCh38)
2:70198314
(GRCh37)
- Canonical SPDI:
- NC_000002.12:69971181:CT:
- Gene:
- ASPRV1 (Varview), PCBP1-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000008/2
(TOPMED)
- HGVS:
9.
rs1491368767 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->GC
[Show Flanks]
- Chromosome:
- 2:69984611
(GRCh38)
2:70211744
(GRCh37)
- Canonical SPDI:
- NC_000002.12:69984611::GC
- Gene:
- ASPRV1 (Varview), PCBP1-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
GC=0./0
(
ALFA)
GC=0.000004/1
(TOPMED)
- HGVS:
10.
rs1491364884 has merged into rs57611772 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 2:70065828
(GRCh38)
2:70292960
(GRCh37)
- Canonical SPDI:
- NC_000002.12:70065819:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000002.12:70065819:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000002.12:70065819:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:70065819:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:70065819:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:70065819:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:70065819:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:70065819:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:70065819:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:70065819:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:70065819:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:70065819:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:70065819:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:70065819:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:70065819:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:70065819:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:70065819:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:70065819:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:70065819:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:70065819:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:70065819:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:70065819:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:70065819:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:70065819:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:70065819:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:70065819:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:70065819:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:70065819:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:70065819:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:70065819:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:70065819:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:70065819:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:70065819:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:70065819:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:70065819:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:70065819:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:70065819:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:70065819:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:70065819:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:70065819:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- ASPRV1 (Varview), PCBP1-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000002.12:g.70065828_70065844del, NC_000002.12:g.70065829_70065844del, NC_000002.12:g.70065830_70065844del, NC_000002.12:g.70065831_70065844del, NC_000002.12:g.70065832_70065844del, NC_000002.12:g.70065833_70065844del, NC_000002.12:g.70065834_70065844del, NC_000002.12:g.70065835_70065844del, NC_000002.12:g.70065836_70065844del, NC_000002.12:g.70065837_70065844del, NC_000002.12:g.70065838_70065844del, NC_000002.12:g.70065839_70065844del, NC_000002.12:g.70065840_70065844del, NC_000002.12:g.70065841_70065844del, NC_000002.12:g.70065842_70065844del, NC_000002.12:g.70065843_70065844del, NC_000002.12:g.70065844del, NC_000002.12:g.70065844dup, NC_000002.12:g.70065843_70065844dup, NC_000002.12:g.70065842_70065844dup, NC_000002.12:g.70065841_70065844dup, NC_000002.12:g.70065840_70065844dup, NC_000002.12:g.70065839_70065844dup, NC_000002.12:g.70065838_70065844dup, NC_000002.12:g.70065837_70065844dup, NC_000002.12:g.70065836_70065844dup, NC_000002.12:g.70065835_70065844dup, NC_000002.12:g.70065834_70065844dup, NC_000002.12:g.70065833_70065844dup, NC_000002.12:g.70065832_70065844dup, NC_000002.12:g.70065831_70065844dup, NC_000002.12:g.70065830_70065844dup, NC_000002.12:g.70065829_70065844dup, NC_000002.12:g.70065828_70065844dup, NC_000002.12:g.70065827_70065844dup, NC_000002.12:g.70065826_70065844dup, NC_000002.12:g.70065825_70065844dup, NC_000002.12:g.70065824_70065844dup, NC_000002.12:g.70065823_70065844dup, NC_000002.12:g.70065844_70065845insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.70292960_70292976del, NC_000002.11:g.70292961_70292976del, NC_000002.11:g.70292962_70292976del, NC_000002.11:g.70292963_70292976del, NC_000002.11:g.70292964_70292976del, NC_000002.11:g.70292965_70292976del, NC_000002.11:g.70292966_70292976del, NC_000002.11:g.70292967_70292976del, NC_000002.11:g.70292968_70292976del, NC_000002.11:g.70292969_70292976del, NC_000002.11:g.70292970_70292976del, NC_000002.11:g.70292971_70292976del, NC_000002.11:g.70292972_70292976del, NC_000002.11:g.70292973_70292976del, NC_000002.11:g.70292974_70292976del, NC_000002.11:g.70292975_70292976del, NC_000002.11:g.70292976del, NC_000002.11:g.70292976dup, NC_000002.11:g.70292975_70292976dup, NC_000002.11:g.70292974_70292976dup, NC_000002.11:g.70292973_70292976dup, NC_000002.11:g.70292972_70292976dup, NC_000002.11:g.70292971_70292976dup, NC_000002.11:g.70292970_70292976dup, NC_000002.11:g.70292969_70292976dup, NC_000002.11:g.70292968_70292976dup, NC_000002.11:g.70292967_70292976dup, NC_000002.11:g.70292966_70292976dup, NC_000002.11:g.70292965_70292976dup, NC_000002.11:g.70292964_70292976dup, NC_000002.11:g.70292963_70292976dup, NC_000002.11:g.70292962_70292976dup, NC_000002.11:g.70292961_70292976dup, NC_000002.11:g.70292960_70292976dup, NC_000002.11:g.70292959_70292976dup, NC_000002.11:g.70292958_70292976dup, NC_000002.11:g.70292957_70292976dup, NC_000002.11:g.70292956_70292976dup, NC_000002.11:g.70292955_70292976dup, NC_000002.11:g.70292976_70292977insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
11.
rs1491357575 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 2:70037733
(GRCh38)
2:70264865
(GRCh37)
- Canonical SPDI:
- NC_000002.12:70037732:CT:
- Gene:
- ASPRV1 (Varview), PCBP1-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
13.
rs1491320897 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 2:70076612
(GRCh38)
2:70303744
(GRCh37)
- Canonical SPDI:
- NC_000002.12:70076609:ATAT:AT
- Gene:
- ASPRV1 (Varview), PCBP1-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
ATAT=0.000071/1
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
14.
rs1491319894 has merged into rs55688213 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 2:69984621
(GRCh38)
2:70211753
(GRCh37)
- Canonical SPDI:
- NC_000002.12:69984610:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:69984610:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:69984610:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:69984610:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:69984610:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:69984610:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:69984610:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:69984610:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:69984610:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:69984610:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:69984610:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:69984610:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:69984610:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:69984610:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:69984610:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:69984610:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:69984610:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:69984610:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:69984610:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:69984610:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:69984610:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:69984610:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:69984610:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:69984610:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:69984610:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:69984610:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:69984610:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:69984610:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:69984610:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:69984610:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- ASPRV1 (Varview), PCBP1-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTT=0./0
(
ALFA)
TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0034/2
(NorthernSweden)
- HGVS:
NC_000002.12:g.69984621_69984638del, NC_000002.12:g.69984622_69984638del, NC_000002.12:g.69984623_69984638del, NC_000002.12:g.69984624_69984638del, NC_000002.12:g.69984625_69984638del, NC_000002.12:g.69984626_69984638del, NC_000002.12:g.69984627_69984638del, NC_000002.12:g.69984628_69984638del, NC_000002.12:g.69984629_69984638del, NC_000002.12:g.69984630_69984638del, NC_000002.12:g.69984631_69984638del, NC_000002.12:g.69984632_69984638del, NC_000002.12:g.69984633_69984638del, NC_000002.12:g.69984634_69984638del, NC_000002.12:g.69984635_69984638del, NC_000002.12:g.69984636_69984638del, NC_000002.12:g.69984637_69984638del, NC_000002.12:g.69984638del, NC_000002.12:g.69984638dup, NC_000002.12:g.69984637_69984638dup, NC_000002.12:g.69984636_69984638dup, NC_000002.12:g.69984635_69984638dup, NC_000002.12:g.69984634_69984638dup, NC_000002.12:g.69984633_69984638dup, NC_000002.12:g.69984632_69984638dup, NC_000002.12:g.69984631_69984638dup, NC_000002.12:g.69984627_69984638dup, NC_000002.12:g.69984626_69984638dup, NC_000002.12:g.69984611_69984638T[46]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.69984613_69984638dup, NC_000002.11:g.70211753_70211770del, NC_000002.11:g.70211754_70211770del, NC_000002.11:g.70211755_70211770del, NC_000002.11:g.70211756_70211770del, NC_000002.11:g.70211757_70211770del, NC_000002.11:g.70211758_70211770del, NC_000002.11:g.70211759_70211770del, NC_000002.11:g.70211760_70211770del, NC_000002.11:g.70211761_70211770del, NC_000002.11:g.70211762_70211770del, NC_000002.11:g.70211763_70211770del, NC_000002.11:g.70211764_70211770del, NC_000002.11:g.70211765_70211770del, NC_000002.11:g.70211766_70211770del, NC_000002.11:g.70211767_70211770del, NC_000002.11:g.70211768_70211770del, NC_000002.11:g.70211769_70211770del, NC_000002.11:g.70211770del, NC_000002.11:g.70211770dup, NC_000002.11:g.70211769_70211770dup, NC_000002.11:g.70211768_70211770dup, NC_000002.11:g.70211767_70211770dup, NC_000002.11:g.70211766_70211770dup, NC_000002.11:g.70211765_70211770dup, NC_000002.11:g.70211764_70211770dup, NC_000002.11:g.70211763_70211770dup, NC_000002.11:g.70211759_70211770dup, NC_000002.11:g.70211758_70211770dup, NC_000002.11:g.70211743_70211770T[46]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.70211745_70211770dup