Links from Gene
Items: 1 to 20 of 1000
1.
rs1491562916 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TC>-
[Show Flanks]
- Chromosome:
- 12:116858574
(GRCh38)
12:117296379
(GRCh37)
- Canonical SPDI:
- NC_000012.12:116858573:TC:
- Gene:
- HRK (Varview)
- Functional Consequence:
- non_coding_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.00005/2
(GnomAD)
- HGVS:
2.
rs1491491360 has merged into rs148974119 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 12:116871615
(GRCh38)
12:117309420
(GRCh37)
- Canonical SPDI:
- NC_000012.12:116871603:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000012.12:116871603:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:116871603:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:116871603:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:116871603:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:116871603:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:116871603:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000012.12:116871603:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- HRK (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAA=0./0
(
ALFA)
AAA=0.0569/285
(1000Genomes)
AAA=0.075/3
(GENOME_DK)
AAA=0.109/51
(NorthernSweden)
- HGVS:
NC_000012.12:g.116871615_116871619del, NC_000012.12:g.116871616_116871619del, NC_000012.12:g.116871617_116871619del, NC_000012.12:g.116871618_116871619del, NC_000012.12:g.116871619del, NC_000012.12:g.116871619dup, NC_000012.12:g.116871618_116871619dup, NC_000012.12:g.116871613_116871619dup, NC_000012.11:g.117309420_117309424del, NC_000012.11:g.117309421_117309424del, NC_000012.11:g.117309422_117309424del, NC_000012.11:g.117309423_117309424del, NC_000012.11:g.117309424del, NC_000012.11:g.117309424dup, NC_000012.11:g.117309423_117309424dup, NC_000012.11:g.117309418_117309424dup
3.
rs1491470804 has merged into rs34491902 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTT>-,T,TT,TTTT,TTTTT,TTTTTT
[Show Flanks]
- Chromosome:
- 12:116868981
(GRCh38)
12:117306786
(GRCh37)
- Canonical SPDI:
- NC_000012.12:116868968:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:116868968:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:116868968:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:116868968:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:116868968:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:116868968:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT
- Gene:
- HRK (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.4583/2295
(1000Genomes)
- HGVS:
NC_000012.12:g.116868981_116868983del, NC_000012.12:g.116868982_116868983del, NC_000012.12:g.116868983del, NC_000012.12:g.116868983dup, NC_000012.12:g.116868982_116868983dup, NC_000012.12:g.116868981_116868983dup, NC_000012.11:g.117306786_117306788del, NC_000012.11:g.117306787_117306788del, NC_000012.11:g.117306788del, NC_000012.11:g.117306788dup, NC_000012.11:g.117306787_117306788dup, NC_000012.11:g.117306786_117306788dup
4.
rs1491436842 has merged into rs113070500 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CACACACACA>-,CA,CACACA,CACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA
[Show Flanks]
- Chromosome:
- 12:116870091
(GRCh38)
12:117307896
(GRCh37)
- Canonical SPDI:
- NC_000012.12:116870081:ACACACACACACACACACA:ACACACACA,NC_000012.12:116870081:ACACACACACACACACACA:ACACACACACA,NC_000012.12:116870081:ACACACACACACACACACA:ACACACACACACACA,NC_000012.12:116870081:ACACACACACACACACACA:ACACACACACACACACA,NC_000012.12:116870081:ACACACACACACACACACA:ACACACACACACACACACACA,NC_000012.12:116870081:ACACACACACACACACACA:ACACACACACACACACACACACA,NC_000012.12:116870081:ACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000012.12:116870081:ACACACACACACACACACA:ACACACACACACACACACACACACACA
- Gene:
- HRK (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACACACACACA=0./0
(
ALFA)
AC=0.001/1
(GoNL)
AC=0.01833/11
(NorthernSweden)
AC=0.11741/588
(1000Genomes)
- HGVS:
NC_000012.12:g.116870083CA[4], NC_000012.12:g.116870083CA[5], NC_000012.12:g.116870083CA[7], NC_000012.12:g.116870083CA[8], NC_000012.12:g.116870083CA[10], NC_000012.12:g.116870083CA[11], NC_000012.12:g.116870083CA[12], NC_000012.12:g.116870083CA[13], NC_000012.11:g.117307888CA[4], NC_000012.11:g.117307888CA[5], NC_000012.11:g.117307888CA[7], NC_000012.11:g.117307888CA[8], NC_000012.11:g.117307888CA[10], NC_000012.11:g.117307888CA[11], NC_000012.11:g.117307888CA[12], NC_000012.11:g.117307888CA[13]
5.
rs1491265134 has merged into rs55713149 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ACACACACACACACACACACACACACACACACACAC>-,AC,ACAC,ACACAC,ACACACAC,ACACACACAC,ACACACACACAC,ACACACACACACAC,ACACACACACACACAC,ACACACACACACACACAC,ACACACACACACACACACAC,ACACACACACACACACACACAC,ACACACACACACACACACACACAC,ACACACACACACACACACACACACAC,ACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACACAC
[Show Flanks]
- Chromosome:
- 12:116858588
(GRCh38)
12:117296393
(GRCh37)
- Canonical SPDI:
- NC_000012.12:116858574:CACACACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACAC,NC_000012.12:116858574:CACACACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACAC,NC_000012.12:116858574:CACACACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACAC,NC_000012.12:116858574:CACACACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACAC,NC_000012.12:116858574:CACACACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACAC,NC_000012.12:116858574:CACACACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACAC,NC_000012.12:116858574:CACACACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACAC,NC_000012.12:116858574:CACACACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACAC,NC_000012.12:116858574:CACACACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACAC,NC_000012.12:116858574:CACACACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACAC,NC_000012.12:116858574:CACACACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACAC,NC_000012.12:116858574:CACACACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACAC,NC_000012.12:116858574:CACACACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACAC,NC_000012.12:116858574:CACACACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACAC,NC_000012.12:116858574:CACACACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACAC,NC_000012.12:116858574:CACACACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACAC,NC_000012.12:116858574:CACACACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACAC,NC_000012.12:116858574:CACACACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACAC,NC_000012.12:116858574:CACACACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000012.12:116858574:CACACACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000012.12:116858574:CACACACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000012.12:116858574:CACACACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000012.12:116858574:CACACACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000012.12:116858574:CACACACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000012.12:116858574:CACACACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC
- Gene:
- HRK (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CACACACACACACAC=0./0
(
ALFA)
CACA=0.1546/774
(1000Genomes)
- HGVS:
NC_000012.12:g.116858576AC[6], NC_000012.12:g.116858576AC[7], NC_000012.12:g.116858576AC[8], NC_000012.12:g.116858576AC[9], NC_000012.12:g.116858576AC[10], NC_000012.12:g.116858576AC[11], NC_000012.12:g.116858576AC[12], NC_000012.12:g.116858576AC[13], NC_000012.12:g.116858576AC[14], NC_000012.12:g.116858576AC[15], NC_000012.12:g.116858576AC[16], NC_000012.12:g.116858576AC[17], NC_000012.12:g.116858576AC[18], NC_000012.12:g.116858576AC[19], NC_000012.12:g.116858576AC[20], NC_000012.12:g.116858576AC[21], NC_000012.12:g.116858576AC[22], NC_000012.12:g.116858576AC[23], NC_000012.12:g.116858576AC[25], NC_000012.12:g.116858576AC[26], NC_000012.12:g.116858576AC[27], NC_000012.12:g.116858576AC[28], NC_000012.12:g.116858576AC[29], NC_000012.12:g.116858576AC[30], NC_000012.12:g.116858576AC[31], NC_000012.11:g.117296381AC[6], NC_000012.11:g.117296381AC[7], NC_000012.11:g.117296381AC[8], NC_000012.11:g.117296381AC[9], NC_000012.11:g.117296381AC[10], NC_000012.11:g.117296381AC[11], NC_000012.11:g.117296381AC[12], NC_000012.11:g.117296381AC[13], NC_000012.11:g.117296381AC[14], NC_000012.11:g.117296381AC[15], NC_000012.11:g.117296381AC[16], NC_000012.11:g.117296381AC[17], NC_000012.11:g.117296381AC[18], NC_000012.11:g.117296381AC[19], NC_000012.11:g.117296381AC[20], NC_000012.11:g.117296381AC[21], NC_000012.11:g.117296381AC[22], NC_000012.11:g.117296381AC[23], NC_000012.11:g.117296381AC[25], NC_000012.11:g.117296381AC[26], NC_000012.11:g.117296381AC[27], NC_000012.11:g.117296381AC[28], NC_000012.11:g.117296381AC[29], NC_000012.11:g.117296381AC[30], NC_000012.11:g.117296381AC[31], NM_003806.4:c.*2901TG[6], NM_003806.4:c.*2901TG[7], NM_003806.4:c.*2901TG[8], NM_003806.4:c.*2901TG[9], NM_003806.4:c.*2901TG[10], NM_003806.4:c.*2901TG[11], NM_003806.4:c.*2901TG[12], NM_003806.4:c.*2901TG[13], NM_003806.4:c.*2901TG[14], NM_003806.4:c.*2901TG[15], NM_003806.4:c.*2901TG[16], NM_003806.4:c.*2901TG[17], NM_003806.4:c.*2901TG[18], NM_003806.4:c.*2901TG[19], NM_003806.4:c.*2901TG[20], NM_003806.4:c.*2901TG[21], NM_003806.4:c.*2901TG[22], NM_003806.4:c.*2901TG[23], NM_003806.4:c.*2901TG[25], NM_003806.4:c.*2901TG[26], NM_003806.4:c.*2901TG[27], NM_003806.4:c.*2901TG[28], NM_003806.4:c.*2901TG[29], NM_003806.4:c.*2901TG[30], NM_003806.4:c.*2901TG[31], NM_003806.3:c.*2901TG[6], NM_003806.3:c.*2901TG[7], NM_003806.3:c.*2901TG[8], NM_003806.3:c.*2901TG[9], NM_003806.3:c.*2901TG[10], NM_003806.3:c.*2901TG[11], NM_003806.3:c.*2901TG[12], NM_003806.3:c.*2901TG[13], NM_003806.3:c.*2901TG[14], NM_003806.3:c.*2901TG[15], NM_003806.3:c.*2901TG[16], NM_003806.3:c.*2901TG[17], NM_003806.3:c.*2901TG[18], NM_003806.3:c.*2901TG[19], NM_003806.3:c.*2901TG[20], NM_003806.3:c.*2901TG[21], NM_003806.3:c.*2901TG[22], NM_003806.3:c.*2901TG[23], NM_003806.3:c.*2901TG[25], NM_003806.3:c.*2901TG[26], NM_003806.3:c.*2901TG[27], NM_003806.3:c.*2901TG[28], NM_003806.3:c.*2901TG[29], NM_003806.3:c.*2901TG[30], NM_003806.3:c.*2901TG[31], NR_073189.3:n.3651TG[6], NR_073189.3:n.3651TG[7], NR_073189.3:n.3651TG[8], NR_073189.3:n.3651TG[9], NR_073189.3:n.3651TG[10], NR_073189.3:n.3651TG[11], NR_073189.3:n.3651TG[12], NR_073189.3:n.3651TG[13], NR_073189.3:n.3651TG[14], NR_073189.3:n.3651TG[15], NR_073189.3:n.3651TG[16], NR_073189.3:n.3651TG[17], NR_073189.3:n.3651TG[18], NR_073189.3:n.3651TG[19], NR_073189.3:n.3651TG[20], NR_073189.3:n.3651TG[21], NR_073189.3:n.3651TG[22], NR_073189.3:n.3651TG[23], NR_073189.3:n.3651TG[25], NR_073189.3:n.3651TG[26], NR_073189.3:n.3651TG[27], NR_073189.3:n.3651TG[28], NR_073189.3:n.3651TG[29], NR_073189.3:n.3651TG[30], NR_073189.3:n.3651TG[31], NR_073189.2:n.3637TG[6], NR_073189.2:n.3637TG[7], NR_073189.2:n.3637TG[8], NR_073189.2:n.3637TG[9], NR_073189.2:n.3637TG[10], NR_073189.2:n.3637TG[11], NR_073189.2:n.3637TG[12], NR_073189.2:n.3637TG[13], NR_073189.2:n.3637TG[14], NR_073189.2:n.3637TG[15], NR_073189.2:n.3637TG[16], NR_073189.2:n.3637TG[17], NR_073189.2:n.3637TG[18], NR_073189.2:n.3637TG[19], NR_073189.2:n.3637TG[20], NR_073189.2:n.3637TG[21], NR_073189.2:n.3637TG[22], NR_073189.2:n.3637TG[23], NR_073189.2:n.3637TG[25], NR_073189.2:n.3637TG[26], NR_073189.2:n.3637TG[27], NR_073189.2:n.3637TG[28], NR_073189.2:n.3637TG[29], NR_073189.2:n.3637TG[30], NR_073189.2:n.3637TG[31]
7.
rs1490910833 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:116882129
(GRCh38)
12:117319934
(GRCh37)
- Canonical SPDI:
- NC_000012.12:116882128:G:A
- Gene:
- HRK (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
8.
rs1490885459 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 12:116868610
(GRCh38)
12:117306415
(GRCh37)
- Canonical SPDI:
- NC_000012.12:116868609:G:A,NC_000012.12:116868609:G:T
- Gene:
- HRK (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
A=0.000035/1
(TOMMO)
- HGVS:
9.
rs1490872049 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:116866885
(GRCh38)
12:117304690
(GRCh37)
- Canonical SPDI:
- NC_000012.12:116866884:T:C
- Gene:
- HRK (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000066/1
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000223/1
(Estonian)
- HGVS:
11.
rs1490540593 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 12:116859045
(GRCh38)
12:117296850
(GRCh37)
- Canonical SPDI:
- NC_000012.12:116859044:T:G
- Gene:
- HRK (Varview)
- Functional Consequence:
- non_coding_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
12.
rs1490447875 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:116858301
(GRCh38)
12:117296106
(GRCh37)
- Canonical SPDI:
- NC_000012.12:116858300:C:T
- Gene:
- HRK (Varview)
- Functional Consequence:
- non_coding_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
13.
rs1490346494 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 12:116876523
(GRCh38)
12:117314328
(GRCh37)
- Canonical SPDI:
- NC_000012.12:116876522:G:C
- Gene:
- HRK (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
- HGVS:
14.
rs1490321897 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:116877550
(GRCh38)
12:117315355
(GRCh37)
- Canonical SPDI:
- NC_000012.12:116877549:G:A
- Gene:
- HRK (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
15.
rs1490201952 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 12:116861137
(GRCh38)
12:117298942
(GRCh37)
- Canonical SPDI:
- NC_000012.12:116861136:C:A
- Gene:
- HRK (Varview)
- Functional Consequence:
- non_coding_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.00003/8
(TOPMED)
A=0.00005/7
(GnomAD)
- HGVS:
16.
rs1489974962 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C,G
[Show Flanks]
- Chromosome:
- 12:116868130
(GRCh38)
12:117305935
(GRCh37)
- Canonical SPDI:
- NC_000012.12:116868129:T:A,NC_000012.12:116868129:T:C,NC_000012.12:116868129:T:G
- Gene:
- HRK (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.00004/0
(TOMMO)
G=0.00391/2
(GnomAD)
T=0.5/6
(SGDP_PRJ)
- HGVS:
18.
rs1489670517 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 12:116858585
(GRCh38)
12:117296390
(GRCh37)
- Canonical SPDI:
- NC_000012.12:116858584:C:A
- Gene:
- HRK (Varview)
- Functional Consequence:
- non_coding_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
19.
rs1489626802 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 12:116860601
(GRCh38)
12:117298406
(GRCh37)
- Canonical SPDI:
- NC_000012.12:116860600:C:A,NC_000012.12:116860600:C:T
- Gene:
- HRK (Varview)
- Functional Consequence:
- non_coding_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000012.12:g.116860601C>A, NC_000012.12:g.116860601C>T, NC_000012.11:g.117298406C>A, NC_000012.11:g.117298406C>T, NM_003806.4:c.*922G>T, NM_003806.4:c.*922G>A, NM_003806.3:c.*922G>T, NM_003806.3:c.*922G>A, NM_003806.2:c.*922G>T, NM_003806.2:c.*922G>A, NR_073189.3:n.1672G>T, NR_073189.3:n.1672G>A, NR_073189.2:n.1658G>T, NR_073189.2:n.1658G>A, NR_073189.1:n.1658G>T, NR_073189.1:n.1658G>A
20.
rs1489404701 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- T>-
[Show Flanks]
- Chromosome:
- 12:116866432
(GRCh38)
12:117304237
(GRCh37)
- Canonical SPDI:
- NC_000012.12:116866431:T:
- Gene:
- HRK (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS: