Links from Gene
Items: 1 to 20 of 1000
1.
rs1491589030 has merged into rs34795718 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA
[Show Flanks]
- Chromosome:
- 11:125396592
(GRCh38)
11:125266488
(GRCh37)
- Canonical SPDI:
- NC_000011.10:125396580:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000011.10:125396580:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:125396580:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:125396580:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:125396580:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:125396580:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:125396580:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:125396580:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:125396580:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
- Gene:
- PKNOX2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAA=0./0
(
ALFA)
-=0.2947/1476
(1000Genomes)
- HGVS:
NC_000011.10:g.125396592_125396597del, NC_000011.10:g.125396593_125396597del, NC_000011.10:g.125396594_125396597del, NC_000011.10:g.125396595_125396597del, NC_000011.10:g.125396596_125396597del, NC_000011.10:g.125396597del, NC_000011.10:g.125396597dup, NC_000011.10:g.125396596_125396597dup, NC_000011.10:g.125396595_125396597dup, NC_000011.9:g.125266488_125266493del, NC_000011.9:g.125266489_125266493del, NC_000011.9:g.125266490_125266493del, NC_000011.9:g.125266491_125266493del, NC_000011.9:g.125266492_125266493del, NC_000011.9:g.125266493del, NC_000011.9:g.125266493dup, NC_000011.9:g.125266492_125266493dup, NC_000011.9:g.125266491_125266493dup
2.
rs1491574738 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CGG
[Show Flanks]
- Chromosome:
- 11:125110851
(GRCh38)
11:124980748
(GRCh37)
- Canonical SPDI:
- NC_000011.10:125110851:GG:GGCGG
- Gene:
- TMEM218 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
GGCGG=0./0
(
ALFA)
GGC=0./0
(GnomAD)
- HGVS:
3.
rs1491571771 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 11:125178715
(GRCh38)
11:125048612
(GRCh37)
- Canonical SPDI:
- NC_000011.10:125178715::G
- Gene:
- PKNOX2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
G=0.00006/1
(TOMMO)
G=0.000236/28
(GnomAD)
- HGVS:
5.
rs1491533166 has merged into rs56021315 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CACACACACACACACACACACACA>-,CA,CACA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACA
[Show Flanks]
- Chromosome:
- 11:125195900
(GRCh38)
11:125065796
(GRCh37)
- Canonical SPDI:
- NC_000011.10:125195883:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACA,NC_000011.10:125195883:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACA,NC_000011.10:125195883:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACA,NC_000011.10:125195883:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACA,NC_000011.10:125195883:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACA,NC_000011.10:125195883:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACA,NC_000011.10:125195883:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACA,NC_000011.10:125195883:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACA,NC_000011.10:125195883:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACA,NC_000011.10:125195883:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACA,NC_000011.10:125195883:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACA,NC_000011.10:125195883:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACA,NC_000011.10:125195883:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACA,NC_000011.10:125195883:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACA,NC_000011.10:125195883:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACA,NC_000011.10:125195883:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACA,NC_000011.10:125195883:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000011.10:125195883:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000011.10:125195883:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000011.10:125195883:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACA
- Gene:
- PKNOX2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CACACACACACACACA=0./0
(
ALFA)
- HGVS:
NC_000011.10:g.125195884CA[8], NC_000011.10:g.125195884CA[9], NC_000011.10:g.125195884CA[10], NC_000011.10:g.125195884CA[11], NC_000011.10:g.125195884CA[12], NC_000011.10:g.125195884CA[13], NC_000011.10:g.125195884CA[14], NC_000011.10:g.125195884CA[15], NC_000011.10:g.125195884CA[16], NC_000011.10:g.125195884CA[17], NC_000011.10:g.125195884CA[18], NC_000011.10:g.125195884CA[19], NC_000011.10:g.125195884CA[21], NC_000011.10:g.125195884CA[22], NC_000011.10:g.125195884CA[23], NC_000011.10:g.125195884CA[24], NC_000011.10:g.125195884CA[25], NC_000011.10:g.125195884CA[26], NC_000011.10:g.125195884CA[27], NC_000011.10:g.125195884CA[28], NC_000011.9:g.125065780CA[8], NC_000011.9:g.125065780CA[9], NC_000011.9:g.125065780CA[10], NC_000011.9:g.125065780CA[11], NC_000011.9:g.125065780CA[12], NC_000011.9:g.125065780CA[13], NC_000011.9:g.125065780CA[14], NC_000011.9:g.125065780CA[15], NC_000011.9:g.125065780CA[16], NC_000011.9:g.125065780CA[17], NC_000011.9:g.125065780CA[18], NC_000011.9:g.125065780CA[19], NC_000011.9:g.125065780CA[21], NC_000011.9:g.125065780CA[22], NC_000011.9:g.125065780CA[23], NC_000011.9:g.125065780CA[24], NC_000011.9:g.125065780CA[25], NC_000011.9:g.125065780CA[26], NC_000011.9:g.125065780CA[27], NC_000011.9:g.125065780CA[28]
6.
rs1491505307 has merged into rs569934752 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TA>-,TATATA
[Show Flanks]
- Chromosome:
- 11:125248902
(GRCh38)
11:125118798
(GRCh37)
- Canonical SPDI:
- NC_000011.10:125248894:ATATATATA:ATATATA,NC_000011.10:125248894:ATATATATA:ATATATATATATA
- Gene:
- PKNOX2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATATATATATATA=0./0
(
ALFA)
-=0.002796/14
(1000Genomes)
-=0.004945/1309
(TOPMED)
-=0.005541/611
(GnomAD)
- HGVS:
7.
rs1491463537 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 11:125248906
(GRCh38)
11:125118802
(GRCh37)
- Canonical SPDI:
- NC_000011.10:125248905:GT:
- Gene:
- PKNOX2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.00002/2
(GnomAD)
- HGVS:
8.
rs1491437122 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 11:125198841
(GRCh38)
11:125068737
(GRCh37)
- Canonical SPDI:
- NC_000011.10:125198839:TCT:T
- Gene:
- PKNOX2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000253/3
(
ALFA)
-=0.000628/76
(GnomAD)
- HGVS:
9.
rs1491422690 has merged into rs551076606 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T,TTT,TTTT
[Show Flanks]
- Chromosome:
- 11:125259890
(GRCh38)
11:125129786
(GRCh37)
- Canonical SPDI:
- NC_000011.10:125259878:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000011.10:125259878:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000011.10:125259878:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000011.10:125259878:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT
- Gene:
- PKNOX2 (Varview), LOC105369549 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTT=0.00039/6
(
ALFA)
- HGVS:
10.
rs1491420175 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 11:125304833
(GRCh38)
11:125174729
(GRCh37)
- Canonical SPDI:
- NC_000011.10:125304831:ATA:A
- Gene:
- PKNOX2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
-=0.000043/6
(GnomAD)
- HGVS:
11.
rs1491417852 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 11:125151375
(GRCh38)
11:125021271
(GRCh37)
- Canonical SPDI:
- NC_000011.10:125151374:CT:
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00008/1
(
ALFA)
-=0.00009/7
(GnomAD)
-=0.00052/2
(ALSPAC)
-=0.00108/4
(TWINSUK)
- HGVS:
12.
rs1491412465 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CG>-
[Show Flanks]
- Chromosome:
- 11:125157054
(GRCh38)
11:125026950
(GRCh37)
- Canonical SPDI:
- NC_000011.10:125157053:CG:
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000008/2
(TOPMED)
-=0.055008/212
(ALSPAC)
-=0.062298/231
(TWINSUK)
- HGVS:
13.
rs1491388363 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GT
[Show Flanks]
- Chromosome:
- 11:125268713
(GRCh38)
11:125138610
(GRCh37)
- Canonical SPDI:
- NC_000011.10:125268713:TGT:TGTGT
- Gene:
- PKNOX2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGT=0./0
(
ALFA)
TG=0.000004/1
(TOPMED)
TG=0.000007/1
(GnomAD)
- HGVS:
14.
rs1491385179 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 11:125419453
(GRCh38)
11:125289350
(GRCh37)
- Canonical SPDI:
- NC_000011.10:125419453::C
- Gene:
- PKNOX2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.00101/12
(
ALFA)
C=0.00601/125
(GnomAD)
- HGVS:
16.
rs1491379645 has merged into rs34795718 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA
[Show Flanks]
- Chromosome:
- 11:125396592
(GRCh38)
11:125266488
(GRCh37)
- Canonical SPDI:
- NC_000011.10:125396580:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000011.10:125396580:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:125396580:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:125396580:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:125396580:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:125396580:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:125396580:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:125396580:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:125396580:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
- Gene:
- PKNOX2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAA=0./0
(
ALFA)
-=0.2947/1476
(1000Genomes)
- HGVS:
NC_000011.10:g.125396592_125396597del, NC_000011.10:g.125396593_125396597del, NC_000011.10:g.125396594_125396597del, NC_000011.10:g.125396595_125396597del, NC_000011.10:g.125396596_125396597del, NC_000011.10:g.125396597del, NC_000011.10:g.125396597dup, NC_000011.10:g.125396596_125396597dup, NC_000011.10:g.125396595_125396597dup, NC_000011.9:g.125266488_125266493del, NC_000011.9:g.125266489_125266493del, NC_000011.9:g.125266490_125266493del, NC_000011.9:g.125266491_125266493del, NC_000011.9:g.125266492_125266493del, NC_000011.9:g.125266493del, NC_000011.9:g.125266493dup, NC_000011.9:g.125266492_125266493dup, NC_000011.9:g.125266491_125266493dup
18.
rs1491364250 has merged into rs3083048 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTT>-,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTCCTTTCCTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 11:125135047
(GRCh38)
11:125004943
(GRCh37)
- Canonical SPDI:
- NC_000011.10:125135037:TTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000011.10:125135037:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000011.10:125135037:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000011.10:125135037:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000011.10:125135037:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000011.10:125135037:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000011.10:125135037:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000011.10:125135037:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000011.10:125135037:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:125135037:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000011.10:125135037:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000011.10:125135037:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:125135037:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:125135037:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:125135037:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:125135037:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:125135037:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:125135037:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:125135037:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:125135037:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCCTTTCCTTTTTTTTTTTTTTTTTTTT,NC_000011.10:125135037:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTT=0./0
(
ALFA)
- HGVS:
NC_000011.10:g.125135047_125135055del, NC_000011.10:g.125135049_125135055del, NC_000011.10:g.125135051_125135055del, NC_000011.10:g.125135052_125135055del, NC_000011.10:g.125135053_125135055del, NC_000011.10:g.125135054_125135055del, NC_000011.10:g.125135055del, NC_000011.10:g.125135055dup, NC_000011.10:g.125135038_125135055T[19]CTTTTTTTTTTTTTTTTTTTTT[1], NC_000011.10:g.125135054_125135055dup, NC_000011.10:g.125135053_125135055dup, NC_000011.10:g.125135052_125135055dup, NC_000011.10:g.125135051_125135055dup, NC_000011.10:g.125135038_125135055T[23]ATTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000011.10:g.125135044_125135055dup, NC_000011.10:g.125135041_125135055dup, NC_000011.10:g.125135038_125135055dup, NC_000011.10:g.125135055_125135056insTTTTTTTTTTTTTTTTTTT, NC_000011.10:g.125135055_125135056insTTTTTTTTTTTTTTTTTTTT, NC_000011.10:g.125135038_125135055T[38]CCTTT[2]T[17], NC_000011.10:g.125135055_125135056insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.125004943_125004951del, NC_000011.9:g.125004945_125004951del, NC_000011.9:g.125004947_125004951del, NC_000011.9:g.125004948_125004951del, NC_000011.9:g.125004949_125004951del, NC_000011.9:g.125004950_125004951del, NC_000011.9:g.125004951del, NC_000011.9:g.125004951dup, NC_000011.9:g.125004934_125004951T[19]CTTTTTTTTTTTTTTTTTTTTT[1], NC_000011.9:g.125004950_125004951dup, NC_000011.9:g.125004949_125004951dup, NC_000011.9:g.125004948_125004951dup, NC_000011.9:g.125004947_125004951dup, NC_000011.9:g.125004934_125004951T[23]ATTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000011.9:g.125004940_125004951dup, NC_000011.9:g.125004937_125004951dup, NC_000011.9:g.125004934_125004951dup, NC_000011.9:g.125004951_125004952insTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.125004951_125004952insTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.125004934_125004951T[38]CCTTT[2]T[17], NC_000011.9:g.125004951_125004952insTTTTTTTTTTTTTTTTTTTTTTTT
19.
rs1491349513 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AG>-
[Show Flanks]
- Chromosome:
- 11:125217037
(GRCh38)
11:125086933
(GRCh37)
- Canonical SPDI:
- NC_000011.10:125217036:AG:
- Gene:
- PKNOX2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
-=0.021/81
(ALSPAC)
-=0.028/104
(TWINSUK)
- HGVS:
20.
rs1491336355 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- C>-,CC
[Show Flanks]
- Chromosome:
- 11:125135056
(GRCh38)
11:125004952
(GRCh37)
- Canonical SPDI:
- NC_000011.10:125135055:CC:C,NC_000011.10:125135055:CC:CCC
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCC=0./0
(
ALFA)
-=0.000017/2
(GnomAD)
-=0.000035/1
(TOMMO)
- HGVS: