Links from Gene
Items: 1 to 20 of 1000
1.
rs1491576553 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T,TT,TTT,TTTT
[Show Flanks]
- Chromosome:
- 1:86679078
(GRCh38)
1:87144762
(GRCh37)
- Canonical SPDI:
- NC_000001.11:86679078:T:TT,NC_000001.11:86679078:T:TTT,NC_000001.11:86679078:T:TTTT,NC_000001.11:86679078:T:TTTTT
- Gene:
- CLCA4-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTT=0./0
(
ALFA)
TTT=0.00099/4
(Estonian)
- HGVS:
2.
rs1491569660 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 1:86616567
(GRCh38)
1:87082250
(GRCh37)
- Canonical SPDI:
- NC_000001.11:86616566:TA:
- Gene:
- CLCA4-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.00003/3
(GnomAD)
- HGVS:
3.
rs1491540337 has merged into rs59558407 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 1:86678137
(GRCh38)
1:87143820
(GRCh37)
- Canonical SPDI:
- NC_000001.11:86678126:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:86678126:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:86678126:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:86678126:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:86678126:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:86678126:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:86678126:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:86678126:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:86678126:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:86678126:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:86678126:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:86678126:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:86678126:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:86678126:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:86678126:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:86678126:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:86678126:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:86678126:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:86678126:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:86678126:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:86678126:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:86678126:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:86678126:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:86678126:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:86678126:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:86678126:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:86678126:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:86678126:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:86678126:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:86678126:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:86678126:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:86678126:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:86678126:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:86678126:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:86678126:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:86678126:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:86678126:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:86678126:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:86678126:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:86678126:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:86678126:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:86678126:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- CLCA4-AS1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAA=0./0
(
ALFA)
AAAAAAAAAAAAAAAAAAA=0.025/1
(GENOME_DK)
- HGVS:
NC_000001.11:g.86678137_86678155del, NC_000001.11:g.86678139_86678155del, NC_000001.11:g.86678140_86678155del, NC_000001.11:g.86678141_86678155del, NC_000001.11:g.86678142_86678155del, NC_000001.11:g.86678143_86678155del, NC_000001.11:g.86678144_86678155del, NC_000001.11:g.86678145_86678155del, NC_000001.11:g.86678146_86678155del, NC_000001.11:g.86678147_86678155del, NC_000001.11:g.86678148_86678155del, NC_000001.11:g.86678149_86678155del, NC_000001.11:g.86678150_86678155del, NC_000001.11:g.86678151_86678155del, NC_000001.11:g.86678152_86678155del, NC_000001.11:g.86678153_86678155del, NC_000001.11:g.86678154_86678155del, NC_000001.11:g.86678155del, NC_000001.11:g.86678155dup, NC_000001.11:g.86678154_86678155dup, NC_000001.11:g.86678153_86678155dup, NC_000001.11:g.86678152_86678155dup, NC_000001.11:g.86678151_86678155dup, NC_000001.11:g.86678150_86678155dup, NC_000001.11:g.86678149_86678155dup, NC_000001.11:g.86678148_86678155dup, NC_000001.11:g.86678147_86678155dup, NC_000001.11:g.86678146_86678155dup, NC_000001.11:g.86678145_86678155dup, NC_000001.11:g.86678144_86678155dup, NC_000001.11:g.86678143_86678155dup, NC_000001.11:g.86678142_86678155dup, NC_000001.11:g.86678141_86678155dup, NC_000001.11:g.86678140_86678155dup, NC_000001.11:g.86678139_86678155dup, NC_000001.11:g.86678138_86678155dup, NC_000001.11:g.86678137_86678155dup, NC_000001.11:g.86678136_86678155dup, NC_000001.11:g.86678133_86678155dup, NC_000001.11:g.86678132_86678155dup, NC_000001.11:g.86678131_86678155dup, NC_000001.11:g.86678155_86678156insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.87143820_87143838del, NC_000001.10:g.87143822_87143838del, NC_000001.10:g.87143823_87143838del, NC_000001.10:g.87143824_87143838del, NC_000001.10:g.87143825_87143838del, NC_000001.10:g.87143826_87143838del, NC_000001.10:g.87143827_87143838del, NC_000001.10:g.87143828_87143838del, NC_000001.10:g.87143829_87143838del, NC_000001.10:g.87143830_87143838del, NC_000001.10:g.87143831_87143838del, NC_000001.10:g.87143832_87143838del, NC_000001.10:g.87143833_87143838del, NC_000001.10:g.87143834_87143838del, NC_000001.10:g.87143835_87143838del, NC_000001.10:g.87143836_87143838del, NC_000001.10:g.87143837_87143838del, NC_000001.10:g.87143838del, NC_000001.10:g.87143838dup, NC_000001.10:g.87143837_87143838dup, NC_000001.10:g.87143836_87143838dup, NC_000001.10:g.87143835_87143838dup, NC_000001.10:g.87143834_87143838dup, NC_000001.10:g.87143833_87143838dup, NC_000001.10:g.87143832_87143838dup, NC_000001.10:g.87143831_87143838dup, NC_000001.10:g.87143830_87143838dup, NC_000001.10:g.87143829_87143838dup, NC_000001.10:g.87143828_87143838dup, NC_000001.10:g.87143827_87143838dup, NC_000001.10:g.87143826_87143838dup, NC_000001.10:g.87143825_87143838dup, NC_000001.10:g.87143824_87143838dup, NC_000001.10:g.87143823_87143838dup, NC_000001.10:g.87143822_87143838dup, NC_000001.10:g.87143821_87143838dup, NC_000001.10:g.87143820_87143838dup, NC_000001.10:g.87143819_87143838dup, NC_000001.10:g.87143816_87143838dup, NC_000001.10:g.87143815_87143838dup, NC_000001.10:g.87143814_87143838dup, NC_000001.10:g.87143838_87143839insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
4.
rs1491482530 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CG
[Show Flanks]
- Chromosome:
- 1:86636586
(GRCh38)
1:87102270
(GRCh37)
- Canonical SPDI:
- NC_000001.11:86636586:G:GCG
- Gene:
- CLCA3P (Varview), CLCA4-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GCG=0./0
(
ALFA)
GC=0.000004/1
(TOPMED)
GC=0.000031/1
(GnomAD)
- HGVS:
5.
rs1491448716 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 1:86678126
(GRCh38)
1:87143809
(GRCh37)
- Canonical SPDI:
- NC_000001.11:86678125:CA:
- Gene:
- CLCA4-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.00177/25
(TOMMO)
- HGVS:
6.
rs1491357716 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 1:86591296
(GRCh38)
1:87056979
(GRCh37)
- Canonical SPDI:
- NC_000001.11:86591295:CA:
- Gene:
- CLCA4-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00717/85
(
ALFA)
-=0.00376/62
(TOMMO)
- HGVS:
7.
rs1491299795 has merged into rs11286945 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 1:86591307
(GRCh38)
1:87056990
(GRCh37)
- Canonical SPDI:
- NC_000001.11:86591296:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:86591296:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:86591296:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:86591296:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:86591296:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:86591296:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:86591296:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:86591296:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:86591296:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:86591296:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:86591296:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:86591296:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:86591296:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:86591296:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:86591296:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:86591296:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:86591296:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:86591296:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:86591296:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- CLCA4-AS1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAA=0./0
(
ALFA)
-=0.25/10
(GENOME_DK)
- HGVS:
NC_000001.11:g.86591307_86591318del, NC_000001.11:g.86591308_86591318del, NC_000001.11:g.86591310_86591318del, NC_000001.11:g.86591311_86591318del, NC_000001.11:g.86591312_86591318del, NC_000001.11:g.86591313_86591318del, NC_000001.11:g.86591314_86591318del, NC_000001.11:g.86591315_86591318del, NC_000001.11:g.86591316_86591318del, NC_000001.11:g.86591317_86591318del, NC_000001.11:g.86591318del, NC_000001.11:g.86591318dup, NC_000001.11:g.86591317_86591318dup, NC_000001.11:g.86591316_86591318dup, NC_000001.11:g.86591315_86591318dup, NC_000001.11:g.86591314_86591318dup, NC_000001.11:g.86591312_86591318dup, NC_000001.11:g.86591309_86591318dup, NC_000001.11:g.86591318_86591319insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.87056990_87057001del, NC_000001.10:g.87056991_87057001del, NC_000001.10:g.87056993_87057001del, NC_000001.10:g.87056994_87057001del, NC_000001.10:g.87056995_87057001del, NC_000001.10:g.87056996_87057001del, NC_000001.10:g.87056997_87057001del, NC_000001.10:g.87056998_87057001del, NC_000001.10:g.87056999_87057001del, NC_000001.10:g.87057000_87057001del, NC_000001.10:g.87057001del, NC_000001.10:g.87057001dup, NC_000001.10:g.87057000_87057001dup, NC_000001.10:g.87056999_87057001dup, NC_000001.10:g.87056998_87057001dup, NC_000001.10:g.87056997_87057001dup, NC_000001.10:g.87056995_87057001dup, NC_000001.10:g.87056992_87057001dup, NC_000001.10:g.87057001_87057002insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
8.
rs1491159834 has merged into rs55815701 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA
[Show Flanks]
- Chromosome:
- 1:86616579
(GRCh38)
1:87082262
(GRCh37)
- Canonical SPDI:
- NC_000001.11:86616567:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:86616567:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:86616567:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:86616567:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:86616567:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:86616567:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:86616567:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
- Gene:
- CLCA4-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAA=0./0
(
ALFA)
-=0.3271/1638
(1000Genomes)
- HGVS:
NC_000001.11:g.86616579_86616585del, NC_000001.11:g.86616582_86616585del, NC_000001.11:g.86616583_86616585del, NC_000001.11:g.86616584_86616585del, NC_000001.11:g.86616585del, NC_000001.11:g.86616585dup, NC_000001.11:g.86616584_86616585dup, NC_000001.10:g.87082262_87082268del, NC_000001.10:g.87082265_87082268del, NC_000001.10:g.87082266_87082268del, NC_000001.10:g.87082267_87082268del, NC_000001.10:g.87082268del, NC_000001.10:g.87082268dup, NC_000001.10:g.87082267_87082268dup
9.
rs1491013583 has merged into rs869122916 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 1:86679091
(GRCh38)
1:87144774
(GRCh37)
- Canonical SPDI:
- NC_000001.11:86679089:TAT:T
- Gene:
- CLCA4-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.00346/41
(
ALFA)
-=0.09718/1629
(TOMMO)
- HGVS:
10.
rs1490999654 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 1:86639737
(GRCh38)
1:87105420
(GRCh37)
- Canonical SPDI:
- NC_000001.11:86639736:G:A,NC_000001.11:86639736:G:C
- Gene:
- CLCA3P (Varview), CLCA4-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
11.
rs1490968080 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AG
[Show Flanks]
- Chromosome:
- 1:86634344
(GRCh38)
1:87100028
(GRCh37)
- Canonical SPDI:
- NC_000001.11:86634344:G:GAG
- Gene:
- CLCA3P (Varview), CLCA4-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
GA=0.000064/9
(GnomAD)
- HGVS:
12.
rs1490945862 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:86657074
(GRCh38)
1:87122757
(GRCh37)
- Canonical SPDI:
- NC_000001.11:86657073:C:T
- Gene:
- CLCA4-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
- HGVS:
13.
rs1490939695 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TCTTT>-
[Show Flanks]
- Chromosome:
- 1:86589965
(GRCh38)
1:87055648
(GRCh37)
- Canonical SPDI:
- NC_000001.11:86589963:TTCTTT:T
- Gene:
- CLCA4-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
14.
rs1490935395 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 1:86695811
(GRCh38)
1:87161494
(GRCh37)
- Canonical SPDI:
- NC_000001.11:86695810:G:A,NC_000001.11:86695810:G:C
- Gene:
- CLCA4-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
15.
rs1490917110 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 1:86607599
(GRCh38)
1:87073282
(GRCh37)
- Canonical SPDI:
- NC_000001.11:86607598:A:T
- Gene:
- CLCA4-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
16.
rs1490893895 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 1:86577370
(GRCh38)
1:87043054
(GRCh37)
- Canonical SPDI:
- NC_000001.11:86577370:AA:AAA
- Gene:
- CLCA4 (Varview), CLCA4-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAA=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
17.
rs1490871593 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 1:86676681
(GRCh38)
1:87142364
(GRCh37)
- Canonical SPDI:
- NC_000001.11:86676680:T:G
- Gene:
- CLCA4-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
18.
rs1490841714 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:86637684
(GRCh38)
1:87103367
(GRCh37)
- Canonical SPDI:
- NC_000001.11:86637683:A:G
- Gene:
- CLCA3P (Varview), CLCA4-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000014/2
(GnomAD)
G=0.000034/9
(TOPMED)
- HGVS:
19.
rs1490838396 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:86611859
(GRCh38)
1:87077542
(GRCh37)
- Canonical SPDI:
- NC_000001.11:86611858:G:A
- Gene:
- CLCA4-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency
- MAF:
A=0.000007/1
(GnomAD)
- HGVS:
20.
rs1490823210 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:86621718
(GRCh38)
1:87087401
(GRCh37)
- Canonical SPDI:
- NC_000001.11:86621717:T:C
- Gene:
- CLCA4-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_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: