Links from Gene
Items: 1 to 20 of 1340
2.
rs1491124131 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TG>-
[Show Flanks]
- Chromosome:
- 11:31825095
(GRCh38)
11:31846642
(GRCh37)
- Canonical SPDI:
- NC_000011.10:31825093:GTG:G
- Gene:
- PAX6-AS1 (Varview), PAUPAR (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
-=0.017/63
(TWINSUK)
-=0.0366/141
(ALSPAC)
- HGVS:
3.
rs1488983685 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:31827959
(GRCh38)
11:31849506
(GRCh37)
- Canonical SPDI:
- NC_000011.10:31827958:C:T
- Gene:
- PAX6-AS1 (Varview), PAUPAR (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000021/3
(GnomAD)
- HGVS:
4.
rs1488327941 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:31825988
(GRCh38)
11:31847535
(GRCh37)
- Canonical SPDI:
- NC_000011.10:31825987:C:T
- Gene:
- PAX6-AS1 (Varview), PAUPAR (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000546/1
(Korea1K)
- HGVS:
5.
rs1487601245 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 11:31829788
(GRCh38)
11:31851335
(GRCh37)
- Canonical SPDI:
- NC_000011.10:31829787:C:A
- Gene:
- PAX6-AS1 (Varview), PAUPAR (Varview)
- Functional Consequence:
- downstream_transcript_variant,intron_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000008/1
(GnomAD)
- HGVS:
6.
rs1487472645 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C,T
[Show Flanks]
- Chromosome:
- 11:31828493
(GRCh38)
11:31850040
(GRCh37)
- Canonical SPDI:
- NC_000011.10:31828492:G:C,NC_000011.10:31828492:G:T
- Gene:
- PAX6-AS1 (Varview), PAUPAR (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
7.
rs1487437293 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 11:31829575
(GRCh38)
11:31851122
(GRCh37)
- Canonical SPDI:
- NC_000011.10:31829574:G:A,NC_000011.10:31829574:G:T
- Gene:
- PAX6-AS1 (Varview), PAUPAR (Varview)
- Functional Consequence:
- downstream_transcript_variant,intron_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
8.
rs1487087106 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 11:31828475
(GRCh38)
11:31850022
(GRCh37)
- Canonical SPDI:
- NC_000011.10:31828474:A:G,NC_000011.10:31828474:A:T
- Gene:
- PAX6-AS1 (Varview), PAUPAR (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
9.
rs1486455090 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 11:31827672
(GRCh38)
11:31849220
(GRCh37)
- Canonical SPDI:
- NC_000011.10:31827672::G
- Gene:
- PAX6-AS1 (Varview), PAUPAR (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.00024/4
(
ALFA)
G=0.00089/4
(Estonian)
- HGVS:
10.
rs1485477204 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 11:31826989
(GRCh38)
11:31848536
(GRCh37)
- Canonical SPDI:
- NC_000011.10:31826988:T:C
- Gene:
- PAX6-AS1 (Varview), PAUPAR (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency
- MAF:
C=0.000007/1
(GnomAD)
- HGVS:
11.
rs1485041563 has merged into rs1174148179 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTCTCTTTATTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 11:31829726
(GRCh38)
11:31851273
(GRCh37)
- Canonical SPDI:
- NC_000011.10:31829714:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000011.10:31829714:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000011.10:31829714:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000011.10:31829714:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000011.10:31829714:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000011.10:31829714:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000011.10:31829714:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000011.10:31829714:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000011.10:31829714:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000011.10:31829714:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000011.10:31829714:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000011.10:31829714:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:31829714:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:31829714:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:31829714:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:31829714:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:31829714:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTCTCTTTATTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:31829714:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:31829714:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:31829714:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:31829714:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:31829714:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:31829714:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:31829714:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:31829714:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:31829714:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:31829714:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:31829714:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:31829714:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:31829714:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:31829714:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:31829714:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:31829714:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:31829714:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:31829714:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:31829714:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:31829714:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:31829714:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:31829714:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:31829714:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:31829714:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:31829714:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:31829714:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:31829714:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:31829714:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:31829714:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:31829714:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:31829714:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:31829714:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:31829714:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:31829714:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:31829714:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:31829714:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:31829714:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:31829714:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:31829714:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:31829714:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- PAX6-AS1 (Varview), PAUPAR (Varview)
- Functional Consequence:
- downstream_transcript_variant,intron_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000011.10:g.31829726_31829738del, NC_000011.10:g.31829727_31829738del, NC_000011.10:g.31829728_31829738del, NC_000011.10:g.31829729_31829738del, NC_000011.10:g.31829730_31829738del, NC_000011.10:g.31829731_31829738del, NC_000011.10:g.31829732_31829738del, NC_000011.10:g.31829733_31829738del, NC_000011.10:g.31829734_31829738del, NC_000011.10:g.31829735_31829738del, NC_000011.10:g.31829736_31829738del, NC_000011.10:g.31829737_31829738del, NC_000011.10:g.31829738del, NC_000011.10:g.31829738dup, NC_000011.10:g.31829715_31829738T[25]CTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000011.10:g.31829737_31829738dup, NC_000011.10:g.31829715_31829738T[26]CT[2]TTATTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000011.10:g.31829715_31829738T[26]CTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000011.10:g.31829715_31829738T[26]CTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000011.10:g.31829736_31829738dup, NC_000011.10:g.31829715_31829738T[27]CTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000011.10:g.31829715_31829738T[27]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000011.10:g.31829735_31829738dup, NC_000011.10:g.31829715_31829738T[28]CTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000011.10:g.31829715_31829738T[28]CTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000011.10:g.31829734_31829738dup, NC_000011.10:g.31829733_31829738dup, NC_000011.10:g.31829732_31829738dup, NC_000011.10:g.31829731_31829738dup, NC_000011.10:g.31829730_31829738dup, NC_000011.10:g.31829729_31829738dup, NC_000011.10:g.31829728_31829738dup, NC_000011.10:g.31829727_31829738dup, NC_000011.10:g.31829724_31829738dup, NC_000011.10:g.31829722_31829738dup, NC_000011.10:g.31829720_31829738dup, NC_000011.10:g.31829719_31829738dup, NC_000011.10:g.31829718_31829738dup, NC_000011.10:g.31829717_31829738dup, NC_000011.10:g.31829716_31829738dup, NC_000011.10:g.31829715_31829738dup, NC_000011.10:g.31829738_31829739insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.10:g.31829738_31829739insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.10:g.31829738_31829739insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.10:g.31829738_31829739insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.10:g.31829738_31829739insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.10:g.31829738_31829739insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.10:g.31829738_31829739insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.10:g.31829738_31829739insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.10:g.31829715_31829738T[57]ATTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000011.10:g.31829715_31829738T[57]ATTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000011.10:g.31829738_31829739insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.10:g.31829738_31829739insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.10:g.31829738_31829739insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.10:g.31829738_31829739insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.10:g.31829738_31829739insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.10:g.31829738_31829739insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.31851273_31851285del, NC_000011.9:g.31851274_31851285del, NC_000011.9:g.31851275_31851285del, NC_000011.9:g.31851276_31851285del, NC_000011.9:g.31851277_31851285del, NC_000011.9:g.31851278_31851285del, NC_000011.9:g.31851279_31851285del, NC_000011.9:g.31851280_31851285del, NC_000011.9:g.31851281_31851285del, NC_000011.9:g.31851282_31851285del, NC_000011.9:g.31851283_31851285del, NC_000011.9:g.31851284_31851285del, NC_000011.9:g.31851285del, NC_000011.9:g.31851285dup, NC_000011.9:g.31851262_31851285T[25]CTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000011.9:g.31851284_31851285dup, NC_000011.9:g.31851262_31851285T[26]CT[2]TTATTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000011.9:g.31851262_31851285T[26]CTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000011.9:g.31851262_31851285T[26]CTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000011.9:g.31851283_31851285dup, NC_000011.9:g.31851262_31851285T[27]CTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000011.9:g.31851262_31851285T[27]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000011.9:g.31851282_31851285dup, NC_000011.9:g.31851262_31851285T[28]CTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000011.9:g.31851262_31851285T[28]CTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000011.9:g.31851281_31851285dup, NC_000011.9:g.31851280_31851285dup, NC_000011.9:g.31851279_31851285dup, NC_000011.9:g.31851278_31851285dup, NC_000011.9:g.31851277_31851285dup, NC_000011.9:g.31851276_31851285dup, NC_000011.9:g.31851275_31851285dup, NC_000011.9:g.31851274_31851285dup, NC_000011.9:g.31851271_31851285dup, NC_000011.9:g.31851269_31851285dup, NC_000011.9:g.31851267_31851285dup, NC_000011.9:g.31851266_31851285dup, NC_000011.9:g.31851265_31851285dup, NC_000011.9:g.31851264_31851285dup, NC_000011.9:g.31851263_31851285dup, NC_000011.9:g.31851262_31851285dup, NC_000011.9:g.31851285_31851286insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.31851285_31851286insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.31851285_31851286insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.31851285_31851286insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.31851285_31851286insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.31851285_31851286insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.31851285_31851286insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.31851285_31851286insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.31851262_31851285T[57]ATTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000011.9:g.31851262_31851285T[57]ATTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000011.9:g.31851285_31851286insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.31851285_31851286insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.31851285_31851286insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.31851285_31851286insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.31851285_31851286insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.31851285_31851286insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
12.
rs1484365298 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 11:31828409
(GRCh38)
11:31849956
(GRCh37)
- Canonical SPDI:
- NC_000011.10:31828408:A:C
- Gene:
- PAX6-AS1 (Varview), PAUPAR (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
13.
rs1483986327 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 11:31825089
(GRCh38)
11:31846636
(GRCh37)
- Canonical SPDI:
- NC_000011.10:31825088:G:T
- Gene:
- PAX6-AS1 (Varview), PAUPAR (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
14.
rs1483492481 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 11:31825085
(GRCh38)
11:31846632
(GRCh37)
- Canonical SPDI:
- NC_000011.10:31825084:G:A,NC_000011.10:31825084:G:T
- Gene:
- PAX6-AS1 (Varview), PAUPAR (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
15.
rs1483089368 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 11:31824840
(GRCh38)
11:31846388
(GRCh37)
- Canonical SPDI:
- NC_000011.10:31824840::G
- Gene:
- PAX6-AS1 (Varview), PAUPAR (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000042/11
(TOPMED)
G=0.000057/8
(GnomAD)
- HGVS:
16.
rs1482575336 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G,T
[Show Flanks]
- Chromosome:
- 11:31824913
(GRCh38)
11:31846460
(GRCh37)
- Canonical SPDI:
- NC_000011.10:31824912:C:A,NC_000011.10:31824912:C:G,NC_000011.10:31824912:C:T
- Gene:
- PAX6-AS1 (Varview), PAUPAR (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0./0
(GnomAD)
G=0.000011/3
(TOPMED)
- HGVS:
18.
rs1480283562 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 11:31826938
(GRCh38)
11:31848485
(GRCh37)
- Canonical SPDI:
- NC_000011.10:31826937:G:C
- Gene:
- PAX6-AS1 (Varview), PAUPAR (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
19.
rs1480180354 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 11:31827649
(GRCh38)
11:31849196
(GRCh37)
- Canonical SPDI:
- NC_000011.10:31827648:T:C
- Gene:
- PAX6-AS1 (Varview), PAUPAR (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS: