Links from Gene
Items: 1 to 20 of 2447
1.
rs1491489441 has merged into rs1348608199 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CCTTATTCTCTCTCTCTCT>-,CCTTATTCTCTCTCTCTCTCCTTATTCTCTCTCTCTCT
[Show Flanks]
- Chromosome:
- 11:124616994
(GRCh38)
11:124486890
(GRCh37)
- Canonical SPDI:
- NC_000011.10:124616961:TCTCTCTCTCTCTCCTTATTCTCTCTCTCTCTCCTTATTCTCTCTCTCTCT:TCTCTCTCTCTCTCCTTATTCTCTCTCTCTCT,NC_000011.10:124616961:TCTCTCTCTCTCTCCTTATTCTCTCTCTCTCTCCTTATTCTCTCTCTCTCT:TCTCTCTCTCTCTCCTTATTCTCTCTCTCTCTCCTTATTCTCTCTCTCTCTCCTTATTCTCTCTCTCTCT
- Gene:
- PANX3 (Varview), LOC124902779 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TCTCTCTCTCTCTCCTTATTCTCTCTCTCTCT=0.00008/1
(
ALFA)
- HGVS:
2.
rs1491442219 has merged into rs914637054 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TCTCTC>-,TC,TCTC,TCTCTCTC,TCTCTCTCTC
[Show Flanks]
- Chromosome:
- 11:124616970
(GRCh38)
11:124486866
(GRCh37)
- Canonical SPDI:
- NC_000011.10:124616960:CTCTCTCTCTCTCTC:CTCTCTCTC,NC_000011.10:124616960:CTCTCTCTCTCTCTC:CTCTCTCTCTC,NC_000011.10:124616960:CTCTCTCTCTCTCTC:CTCTCTCTCTCTC,NC_000011.10:124616960:CTCTCTCTCTCTCTC:CTCTCTCTCTCTCTCTC,NC_000011.10:124616960:CTCTCTCTCTCTCTC:CTCTCTCTCTCTCTCTCTC
- Gene:
- PANX3 (Varview), LOC124902779 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CTCTCTCTCTC=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
CT=0.001718/11
(1000Genomes)
- HGVS:
3.
rs1491402004 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 11:124611948
(GRCh38)
11:124481845
(GRCh37)
- Canonical SPDI:
- NC_000011.10:124611948:T:TT
- Gene:
- PANX3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TT=0./0
(
ALFA)
T=0.00001/1
(GnomAD)
- HGVS:
5.
rs1490726814 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:124619764
(GRCh38)
11:124489660
(GRCh37)
- Canonical SPDI:
- NC_000011.10:124619763:C:T
- Gene:
- PANX3 (Varview), LOC124902779 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
6.
rs1490612478 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:124610875
(GRCh38)
11:124480771
(GRCh37)
- Canonical SPDI:
- NC_000011.10:124610874:C:T
- Gene:
- PANX3 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
7.
rs1490581345 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 11:124618118
(GRCh38)
11:124488014
(GRCh37)
- Canonical SPDI:
- NC_000011.10:124618117:G:T
- Gene:
- PANX3 (Varview), LOC124902779 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
- HGVS:
8.
rs1490546912 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:124613038
(GRCh38)
11:124482934
(GRCh37)
- Canonical SPDI:
- NC_000011.10:124613037:G:A
- Gene:
- PANX3 (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS:
9.
rs1490356729 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 11:124611327
(GRCh38)
11:124481223
(GRCh37)
- Canonical SPDI:
- NC_000011.10:124611326:C:G
- Gene:
- PANX3 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000071/1
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
11.
rs1489949352 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:124619767
(GRCh38)
11:124489663
(GRCh37)
- Canonical SPDI:
- NC_000011.10:124619766:C:T
- Gene:
- PANX3 (Varview), LOC124902779 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
- Validated:
- by frequency
- MAF:
T=0.000004/1
(GnomAD_exomes)
- HGVS:
12.
rs1489790492 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 11:124619048
(GRCh38)
11:124488944
(GRCh37)
- Canonical SPDI:
- NC_000011.10:124619047:A:T
- Gene:
- PANX3 (Varview), LOC124902779 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
13.
rs1489644377 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:124614081
(GRCh38)
11:124483977
(GRCh37)
- Canonical SPDI:
- NC_000011.10:124614080:G:A
- Gene:
- PANX3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
14.
rs1489538543 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 11:124613732
(GRCh38)
11:124483628
(GRCh37)
- Canonical SPDI:
- NC_000011.10:124613731:C:A
- Gene:
- PANX3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
15.
rs1487931171 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 11:124612408
(GRCh38)
11:124482304
(GRCh37)
- Canonical SPDI:
- NC_000011.10:124612407:T:A
- Gene:
- PANX3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
A=0.000007/1
(GnomAD)
- HGVS:
16.
rs1487824148 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 11:124619001
(GRCh38)
11:124488897
(GRCh37)
- Canonical SPDI:
- NC_000011.10:124619000:T:A
- Gene:
- PANX3 (Varview), LOC124902779 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
18.
rs1487247969 has merged into rs71042444 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAAAA>-,AA,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,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAATACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAGGAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAATTTGAAGGAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAATTCAGAGAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAGAAACAAAAAGGAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAATAAATTATAAGGAAAAGAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAATAAAGTAAAAGAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAATAAATAAAGAAGAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 11:124614174
(GRCh38)
11:124484070
(GRCh37)
- Canonical SPDI:
- NC_000011.10:124614167:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAA,NC_000011.10:124614167:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000011.10:124614167:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:124614167:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:124614167:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:124614167:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:124614167:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:124614167:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:124614167:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:124614167:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:124614167:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000011.10:124614167:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000011.10:124614167:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:124614167:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:124614167:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:124614167:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:124614167:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:124614167:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:124614167:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:124614167:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:124614167:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:124614167:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:124614167:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:124614167:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:124614167:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:124614167:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:124614167:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:124614167:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:124614167:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:124614167:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:124614167:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:124614167:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:124614167:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:124614167:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:124614167:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:124614167:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:124614167:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:124614167:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:124614167:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:124614167:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:124614167:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:124614167:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAGGAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:124614167:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:124614167:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATTTGAAGGAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:124614167:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATTCAGAGAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:124614167:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAGAAACAAAAAGGAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:124614167:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAATTATAAGGAAAAGAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:124614167:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAGTAAAAGAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:124614167:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAATAAAGAAGAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- PANX3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000011.10:g.124614174_124614191del, NC_000011.10:g.124614176_124614191del, NC_000011.10:g.124614180_124614191del, NC_000011.10:g.124614181_124614191del, NC_000011.10:g.124614182_124614191del, NC_000011.10:g.124614183_124614191del, NC_000011.10:g.124614184_124614191del, NC_000011.10:g.124614185_124614191del, NC_000011.10:g.124614186_124614191del, NC_000011.10:g.124614187_124614191del, NC_000011.10:g.124614188_124614191del, NC_000011.10:g.124614189_124614191del, NC_000011.10:g.124614190_124614191del, NC_000011.10:g.124614191del, NC_000011.10:g.124614191dup, NC_000011.10:g.124614190_124614191dup, NC_000011.10:g.124614189_124614191dup, NC_000011.10:g.124614188_124614191dup, NC_000011.10:g.124614187_124614191dup, NC_000011.10:g.124614186_124614191dup, NC_000011.10:g.124614185_124614191dup, NC_000011.10:g.124614184_124614191dup, NC_000011.10:g.124614183_124614191dup, NC_000011.10:g.124614182_124614191dup, NC_000011.10:g.124614181_124614191dup, NC_000011.10:g.124614180_124614191dup, NC_000011.10:g.124614179_124614191dup, NC_000011.10:g.124614176_124614191dup, NC_000011.10:g.124614174_124614191dup, NC_000011.10:g.124614173_124614191dup, NC_000011.10:g.124614172_124614191dup, NC_000011.10:g.124614191_124614192insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.10:g.124614191_124614192insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.10:g.124614191_124614192insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.10:g.124614191_124614192insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.10:g.124614191_124614192insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.10:g.124614191_124614192insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.10:g.124614191_124614192insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.10:g.124614191_124614192insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.10:g.124614191_124614192insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.10:g.124614168_124614191A[35]TACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000011.10:g.124614168_124614191A[34]TAAAAAAAAAAAAAAAAAAAAAGGAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000011.10:g.124614168_124614191A[34]TAAAAAAAAAAAAA[2]A[4]GAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000011.10:g.124614168_124614191A[34]TTTGAAGGAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000011.10:g.124614168_124614191A[33]TTCAGAGAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000011.10:g.124614168_124614191A[31]TAAAAAAGAAACAAAAAGGAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000011.10:g.124614168_124614191A[31]TAAATTATAAGGAAAAGAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000011.10:g.124614168_124614191A[30]TAAAGTAAAAGAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000011.10:g.124614168_124614191A[30]TAAA[2]GAA[2]A[23], NC_000011.9:g.124484070_124484087del, NC_000011.9:g.124484072_124484087del, NC_000011.9:g.124484076_124484087del, NC_000011.9:g.124484077_124484087del, NC_000011.9:g.124484078_124484087del, NC_000011.9:g.124484079_124484087del, NC_000011.9:g.124484080_124484087del, NC_000011.9:g.124484081_124484087del, NC_000011.9:g.124484082_124484087del, NC_000011.9:g.124484083_124484087del, NC_000011.9:g.124484084_124484087del, NC_000011.9:g.124484085_124484087del, NC_000011.9:g.124484086_124484087del, NC_000011.9:g.124484087del, NC_000011.9:g.124484087dup, NC_000011.9:g.124484086_124484087dup, NC_000011.9:g.124484085_124484087dup, NC_000011.9:g.124484084_124484087dup, NC_000011.9:g.124484083_124484087dup, NC_000011.9:g.124484082_124484087dup, NC_000011.9:g.124484081_124484087dup, NC_000011.9:g.124484080_124484087dup, NC_000011.9:g.124484079_124484087dup, NC_000011.9:g.124484078_124484087dup, NC_000011.9:g.124484077_124484087dup, NC_000011.9:g.124484076_124484087dup, NC_000011.9:g.124484075_124484087dup, NC_000011.9:g.124484072_124484087dup, NC_000011.9:g.124484070_124484087dup, NC_000011.9:g.124484069_124484087dup, NC_000011.9:g.124484068_124484087dup, NC_000011.9:g.124484087_124484088insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.9:g.124484087_124484088insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.9:g.124484087_124484088insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.9:g.124484087_124484088insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.9:g.124484087_124484088insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.9:g.124484087_124484088insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.9:g.124484087_124484088insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.9:g.124484087_124484088insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.9:g.124484087_124484088insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.9:g.124484064_124484087A[35]TACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000011.9:g.124484064_124484087A[34]TAAAAAAAAAAAAAAAAAAAAAGGAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000011.9:g.124484064_124484087A[34]TAAAAAAAAAAAAA[2]A[4]GAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000011.9:g.124484064_124484087A[34]TTTGAAGGAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000011.9:g.124484064_124484087A[33]TTCAGAGAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000011.9:g.124484064_124484087A[31]TAAAAAAGAAACAAAAAGGAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000011.9:g.124484064_124484087A[31]TAAATTATAAGGAAAAGAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000011.9:g.124484064_124484087A[30]TAAAGTAAAAGAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000011.9:g.124484064_124484087A[30]TAAA[2]GAA[2]A[23]
19.
rs1487024470 has merged into rs138365917 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 11:124614680
(GRCh38)
11:124484576
(GRCh37)
- Canonical SPDI:
- NC_000011.10:124614670:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000011.10:124614670:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000011.10:124614670:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000011.10:124614670:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000011.10:124614670:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000011.10:124614670:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000011.10:124614670:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000011.10:124614670:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000011.10:124614670:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000011.10:124614670:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000011.10:124614670:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000011.10:124614670:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000011.10:124614670:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:124614670:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:124614670:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:124614670:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:124614670:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:124614670:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:124614670:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:124614670:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:124614670:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:124614670:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:124614670:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:124614670:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:124614670:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:124614670:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:124614670:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- PANX3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTT=0./0
(
ALFA)
TTTT=0.45/18
(GENOME_DK)
- HGVS:
NC_000011.10:g.124614680_124614693del, NC_000011.10:g.124614681_124614693del, NC_000011.10:g.124614682_124614693del, NC_000011.10:g.124614683_124614693del, NC_000011.10:g.124614684_124614693del, NC_000011.10:g.124614685_124614693del, NC_000011.10:g.124614686_124614693del, NC_000011.10:g.124614687_124614693del, NC_000011.10:g.124614688_124614693del, NC_000011.10:g.124614689_124614693del, NC_000011.10:g.124614690_124614693del, NC_000011.10:g.124614692_124614693del, NC_000011.10:g.124614693del, NC_000011.10:g.124614693dup, NC_000011.10:g.124614692_124614693dup, NC_000011.10:g.124614691_124614693dup, NC_000011.10:g.124614690_124614693dup, NC_000011.10:g.124614689_124614693dup, NC_000011.10:g.124614688_124614693dup, NC_000011.10:g.124614687_124614693dup, NC_000011.10:g.124614686_124614693dup, NC_000011.10:g.124614685_124614693dup, NC_000011.10:g.124614683_124614693dup, NC_000011.10:g.124614682_124614693dup, NC_000011.10:g.124614681_124614693dup, NC_000011.10:g.124614679_124614693dup, NC_000011.10:g.124614693_124614694insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.124484576_124484589del, NC_000011.9:g.124484577_124484589del, NC_000011.9:g.124484578_124484589del, NC_000011.9:g.124484579_124484589del, NC_000011.9:g.124484580_124484589del, NC_000011.9:g.124484581_124484589del, NC_000011.9:g.124484582_124484589del, NC_000011.9:g.124484583_124484589del, NC_000011.9:g.124484584_124484589del, NC_000011.9:g.124484585_124484589del, NC_000011.9:g.124484586_124484589del, NC_000011.9:g.124484588_124484589del, NC_000011.9:g.124484589del, NC_000011.9:g.124484589dup, NC_000011.9:g.124484588_124484589dup, NC_000011.9:g.124484587_124484589dup, NC_000011.9:g.124484586_124484589dup, NC_000011.9:g.124484585_124484589dup, NC_000011.9:g.124484584_124484589dup, NC_000011.9:g.124484583_124484589dup, NC_000011.9:g.124484582_124484589dup, NC_000011.9:g.124484581_124484589dup, NC_000011.9:g.124484579_124484589dup, NC_000011.9:g.124484578_124484589dup, NC_000011.9:g.124484577_124484589dup, NC_000011.9:g.124484575_124484589dup, NC_000011.9:g.124484589_124484590insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
20.
rs1487012969 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 11:124610429
(GRCh38)
11:124480325
(GRCh37)
- Canonical SPDI:
- NC_000011.10:124610428:GG:G
- Gene:
- PANX3 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
GG=0./0
(
ALFA)
-=0.000011/3
(TOPMED)
- HGVS: