Links from Gene
Items: 1 to 20 of 1000
1.
rs1491520333 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GT
[Show Flanks]
- Chromosome:
- 10:27701876
(GRCh38)
10:27990806
(GRCh37)
- Canonical SPDI:
- NC_000010.11:27701876:TGTGT:TGTGTGT
- Gene:
- MKX (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TGTGTGT=0./0
(
ALFA)
TG=0.000079/11
(GnomAD)
- HGVS:
4.
rs1491399896 has merged into rs59629401 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,TTT,TTTT
[Show Flanks]
- Chromosome:
- 10:27711481
(GRCh38)
10:28000410
(GRCh37)
- Canonical SPDI:
- NC_000010.11:27711479:TTT:T,NC_000010.11:27711479:TTT:TTTT,NC_000010.11:27711479:TTT:TTTTT
- Gene:
- MKX (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTT=0./0
(
ALFA)
-=0.25/10
(GENOME_DK)
-=0.2509/137
(NorthernSweden)
- HGVS:
5.
rs1491384325 has merged into rs1554768914 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAA>-,A,AA,AAAA,AAAAA,AAAAAA
[Show Flanks]
- Chromosome:
- 10:27680382
(GRCh38)
10:27969311
(GRCh37)
- Canonical SPDI:
- NC_000010.11:27680368:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000010.11:27680368:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:27680368:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000010.11:27680368:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000010.11:27680368:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000010.11:27680368:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
- Gene:
- MKX (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAA=0./0
(
ALFA)
- HGVS:
NC_000010.11:g.27680382_27680384del, NC_000010.11:g.27680383_27680384del, NC_000010.11:g.27680384del, NC_000010.11:g.27680384dup, NC_000010.11:g.27680383_27680384dup, NC_000010.11:g.27680382_27680384dup, NC_000010.10:g.27969311_27969313del, NC_000010.10:g.27969312_27969313del, NC_000010.10:g.27969313del, NC_000010.10:g.27969313dup, NC_000010.10:g.27969312_27969313dup, NC_000010.10:g.27969311_27969313dup, NG_029181.1:g.70479_70481del, NG_029181.1:g.70480_70481del, NG_029181.1:g.70481del, NG_029181.1:g.70481dup, NG_029181.1:g.70480_70481dup, NG_029181.1:g.70479_70481dup
6.
rs1491362793 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 10:27701876
(GRCh38)
10:27990805
(GRCh37)
- Canonical SPDI:
- NC_000010.11:27701875:AT:
- Gene:
- MKX (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
- HGVS:
7.
rs1491358691 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C,CTC,CTCTC,CTCTCTCTC
[Show Flanks]
- Chromosome:
- 10:27711481
(GRCh38)
10:28000411
(GRCh37)
- Canonical SPDI:
- NC_000010.11:27711481::C,NC_000010.11:27711481::CTC,NC_000010.11:27711481::CTCTC,NC_000010.11:27711481::CTCTCTCTC
- Gene:
- MKX (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by cluster
- MAF:
CTC=0.00005/1
(TOMMO)
- HGVS:
NC_000010.11:g.27711481_27711482insC, NC_000010.11:g.27711481_27711482insCTC, NC_000010.11:g.27711481_27711482insCTCTC, NC_000010.11:g.27711481_27711482insCTCTCTCTC, NC_000010.10:g.28000410_28000411insC, NC_000010.10:g.28000410_28000411insCTC, NC_000010.10:g.28000410_28000411insCTCTC, NC_000010.10:g.28000410_28000411insCTCTCTCTC, NG_029181.1:g.39368_39369insG, NG_029181.1:g.39368_39369insGAG, NG_029181.1:g.39368_39369insGAGAG, NG_029181.1:g.39368_39369insGAGAGAGAG
8.
rs1491353056 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-
[Show Flanks]
- Chromosome:
- 10:27711414
(GRCh38)
10:28000343
(GRCh37)
- Canonical SPDI:
- NC_000010.11:27711412:TTT:T
- Gene:
- MKX (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
-=0.000009/1
(GnomAD)
- HGVS:
9.
rs1491300600 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 10:27680369
(GRCh38)
10:27969299
(GRCh37)
- Canonical SPDI:
- NC_000010.11:27680369::C
- Gene:
- MKX (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
10.
rs1491288371 has merged into rs143932170 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAA>-,A,AA,AAAA,AAAAA,AAAAAA
[Show Flanks]
- Chromosome:
- 10:27695446
(GRCh38)
10:27984375
(GRCh37)
- Canonical SPDI:
- NC_000010.11:27695435:AAAAAAAAAAAAA:AAAAAAAAAA,NC_000010.11:27695435:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000010.11:27695435:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000010.11:27695435:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:27695435:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000010.11:27695435:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAA
- Gene:
- MKX (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAA=0.000076/1
(
ALFA)
-=0.004124/15
(1000Genomes)
A=0.09/54
(NorthernSweden)
A=0.11954/31641
(TOPMED)
A=0.125/5
(GENOME_DK)
- HGVS:
NC_000010.11:g.27695446_27695448del, NC_000010.11:g.27695447_27695448del, NC_000010.11:g.27695448del, NC_000010.11:g.27695448dup, NC_000010.11:g.27695447_27695448dup, NC_000010.11:g.27695446_27695448dup, NC_000010.10:g.27984375_27984377del, NC_000010.10:g.27984376_27984377del, NC_000010.10:g.27984377del, NC_000010.10:g.27984377dup, NC_000010.10:g.27984376_27984377dup, NC_000010.10:g.27984375_27984377dup, NG_029181.1:g.55412_55414del, NG_029181.1:g.55413_55414del, NG_029181.1:g.55414del, NG_029181.1:g.55414dup, NG_029181.1:g.55413_55414dup, NG_029181.1:g.55412_55414dup
11.
rs1491230206 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CTTC
[Show Flanks]
- Chromosome:
- 10:27711413
(GRCh38)
10:28000343
(GRCh37)
- Canonical SPDI:
- NC_000010.11:27711413:TTC:TTCCTTC
- Gene:
- MKX (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTCCTTC=0.001096/13
(
ALFA)
TTCC=0.000866/98
(GnomAD)
- HGVS:
12.
rs1491212042 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 10:27711472
(GRCh38)
10:28000402
(GRCh37)
- Canonical SPDI:
- NC_000010.11:27711472::C
- Gene:
- MKX (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.00032/2
(GnomAD)
- HGVS:
13.
rs1491195057 has merged into rs60709908 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,TTT,TTTT
[Show Flanks]
- Chromosome:
- 10:27711473
(GRCh38)
10:28000402
(GRCh37)
- Canonical SPDI:
- NC_000010.11:27711471:TTT:T,NC_000010.11:27711471:TTT:TTTT,NC_000010.11:27711471:TTT:TTTTT
- Gene:
- MKX (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTT=0./0
(
ALFA)
-=0.00198/32
(TOMMO)
- HGVS:
14.
rs1491145133 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CT>-,CTCT,CTCTCT,CTCTCTCT
[Show Flanks]
- Chromosome:
- 10:27711479
(GRCh38)
10:28000408
(GRCh37)
- Canonical SPDI:
- NC_000010.11:27711477:TCT:T,NC_000010.11:27711477:TCT:TCTCT,NC_000010.11:27711477:TCT:TCTCTCT,NC_000010.11:27711477:TCT:TCTCTCTCT
- Gene:
- MKX (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
- HGVS:
NC_000010.11:g.27711479_27711480del, NC_000010.11:g.27711479_27711480dup, NC_000010.11:g.27711479CT[3], NC_000010.11:g.27711479CT[4], NC_000010.10:g.28000408_28000409del, NC_000010.10:g.28000408_28000409dup, NC_000010.10:g.28000408CT[3], NC_000010.10:g.28000408CT[4], NG_029181.1:g.39371_39372del, NG_029181.1:g.39371_39372dup, NG_029181.1:g.39371GA[3], NG_029181.1:g.39371GA[4]
15.
rs1491136531 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A,AA,AAA,AAAAA,AAAAAAAAA,AAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 10:27716435
(GRCh38)
10:28005365
(GRCh37)
- Canonical SPDI:
- NC_000010.11:27716435::A,NC_000010.11:27716435::AA,NC_000010.11:27716435::AAA,NC_000010.11:27716435::AAAAA,NC_000010.11:27716435::AAAAAAAAA,NC_000010.11:27716435::AAAAAAAAAAAAAAAAAAA
- Gene:
- MKX (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AA=0./0
(
ALFA)
AA=0.00078/13
(TOMMO)
AAAAAAAAA=0.00265/1
(NorthernSweden)
- HGVS:
NC_000010.11:g.27716435_27716436insA, NC_000010.11:g.27716435_27716436insAA, NC_000010.11:g.27716435_27716436insAAA, NC_000010.11:g.27716435_27716436insAAAAA, NC_000010.11:g.27716435_27716436insAAAAAAAAA, NC_000010.11:g.27716435_27716436insAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.28005364_28005365insA, NC_000010.10:g.28005364_28005365insAA, NC_000010.10:g.28005364_28005365insAAA, NC_000010.10:g.28005364_28005365insAAAAA, NC_000010.10:g.28005364_28005365insAAAAAAAAA, NC_000010.10:g.28005364_28005365insAAAAAAAAAAAAAAAAAAA, NG_029181.1:g.34414_34415insT, NG_029181.1:g.34414_34415insTT, NG_029181.1:g.34414_34415insTTT, NG_029181.1:g.34414_34415insTTTTT, NG_029181.1:g.34414_34415insTTTTTTTTT, NG_029181.1:g.34414_34415insTTTTTTTTTTTTTTTTTTT
16.
rs1491079516 has merged into rs11337542 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,A,AAA
[Show Flanks]
- Chromosome:
- 10:27721270
(GRCh38)
10:28010199
(GRCh37)
- Canonical SPDI:
- NC_000010.11:27721260:AAAAAAAAAAA:AAAAAAAAA,NC_000010.11:27721260:AAAAAAAAAAA:AAAAAAAAAA,NC_000010.11:27721260:AAAAAAAAAAA:AAAAAAAAAAAA
- Gene:
- MKX (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAA=0.0011/5
(
ALFA)
A=0.075/3
(GENOME_DK)
A=0.076/293
(ALSPAC)
A=0.0763/283
(TWINSUK)
A=0.1233/74
(NorthernSweden)
- HGVS:
17.
rs1491069628 has merged into rs78057670 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT
[Show Flanks]
- Chromosome:
- 10:27711763
(GRCh38)
10:28000692
(GRCh37)
- Canonical SPDI:
- NC_000010.11:27711752:TTTTTTTTTTTTT:TTTTTTTTTT,NC_000010.11:27711752:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000010.11:27711752:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000010.11:27711752:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000010.11:27711752:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000010.11:27711752:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000010.11:27711752:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT
- Gene:
- MKX (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTT=0./0
(
ALFA)
TT=0.08367/419
(1000Genomes)
- HGVS:
NC_000010.11:g.27711763_27711765del, NC_000010.11:g.27711764_27711765del, NC_000010.11:g.27711765del, NC_000010.11:g.27711765dup, NC_000010.11:g.27711764_27711765dup, NC_000010.11:g.27711763_27711765dup, NC_000010.11:g.27711762_27711765dup, NC_000010.10:g.28000692_28000694del, NC_000010.10:g.28000693_28000694del, NC_000010.10:g.28000694del, NC_000010.10:g.28000694dup, NC_000010.10:g.28000693_28000694dup, NC_000010.10:g.28000692_28000694dup, NC_000010.10:g.28000691_28000694dup, NG_029181.1:g.39095_39097del, NG_029181.1:g.39096_39097del, NG_029181.1:g.39097del, NG_029181.1:g.39097dup, NG_029181.1:g.39096_39097dup, NG_029181.1:g.39095_39097dup, NG_029181.1:g.39094_39097dup
18.
rs1491062098 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 10:27695437
(GRCh38)
10:27984367
(GRCh37)
- Canonical SPDI:
- NC_000010.11:27695437::G
- Gene:
- MKX (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
19.
rs1491053452 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CA
[Show Flanks]
- Chromosome:
- 10:27701846
(GRCh38)
10:27990776
(GRCh37)
- Canonical SPDI:
- NC_000010.11:27701846:ACACA:ACACACA
- Gene:
- MKX (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACACACA=0.000247/4
(
ALFA)
AC=0.00025/31
(GnomAD)
- HGVS:
20.
rs1491038557 has merged into rs55968845 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ACACACACACACACACAC>-,AC,ACAC,ACACAC,ACACACAC,ACACACACAC,ACACACACACAC,ACACACACACACAC,ACACACACACACACAC,ACACACACACACACACACAC,ACACACACACACACACACACAC,ACACACACACACACACACACACAC,ACACACACACACACACACACACACAC,ACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACAC
[Show Flanks]
- Chromosome:
- 10:27724775
(GRCh38)
10:28013704
(GRCh37)
- Canonical SPDI:
- NC_000010.11:27724756:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACACAC,NC_000010.11:27724756:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACAC,NC_000010.11:27724756:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACAC,NC_000010.11:27724756:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACAC,NC_000010.11:27724756:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACAC,NC_000010.11:27724756:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACAC,NC_000010.11:27724756:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACAC,NC_000010.11:27724756:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACAC,NC_000010.11:27724756:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACAC,NC_000010.11:27724756:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACAC,NC_000010.11:27724756:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACAC,NC_000010.11:27724756:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACAC,NC_000010.11:27724756:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACAC,NC_000010.11:27724756:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACAC,NC_000010.11:27724756:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000010.11:27724756:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000010.11:27724756:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000010.11:27724756:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000010.11:27724756:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC
- Gene:
- MKX (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACACACACACACACACACAC=0./0
(
ALFA)
-=0.4421/2214
(1000Genomes)
- HGVS:
NC_000010.11:g.27724757AC[9], NC_000010.11:g.27724757AC[10], NC_000010.11:g.27724757AC[11], NC_000010.11:g.27724757AC[12], NC_000010.11:g.27724757AC[13], NC_000010.11:g.27724757AC[14], NC_000010.11:g.27724757AC[15], NC_000010.11:g.27724757AC[16], NC_000010.11:g.27724757AC[17], NC_000010.11:g.27724757AC[19], NC_000010.11:g.27724757AC[20], NC_000010.11:g.27724757AC[21], NC_000010.11:g.27724757AC[22], NC_000010.11:g.27724757AC[23], NC_000010.11:g.27724757AC[24], NC_000010.11:g.27724757AC[25], NC_000010.11:g.27724757AC[26], NC_000010.11:g.27724757AC[28], NC_000010.11:g.27724757AC[29], NC_000010.10:g.28013686AC[9], NC_000010.10:g.28013686AC[10], NC_000010.10:g.28013686AC[11], NC_000010.10:g.28013686AC[12], NC_000010.10:g.28013686AC[13], NC_000010.10:g.28013686AC[14], NC_000010.10:g.28013686AC[15], NC_000010.10:g.28013686AC[16], NC_000010.10:g.28013686AC[17], NC_000010.10:g.28013686AC[19], NC_000010.10:g.28013686AC[20], NC_000010.10:g.28013686AC[21], NC_000010.10:g.28013686AC[22], NC_000010.10:g.28013686AC[23], NC_000010.10:g.28013686AC[24], NC_000010.10:g.28013686AC[25], NC_000010.10:g.28013686AC[26], NC_000010.10:g.28013686AC[28], NC_000010.10:g.28013686AC[29], NG_029181.1:g.26058GT[9], NG_029181.1:g.26058GT[10], NG_029181.1:g.26058GT[11], NG_029181.1:g.26058GT[12], NG_029181.1:g.26058GT[13], NG_029181.1:g.26058GT[14], NG_029181.1:g.26058GT[15], NG_029181.1:g.26058GT[16], NG_029181.1:g.26058GT[17], NG_029181.1:g.26058GT[19], NG_029181.1:g.26058GT[20], NG_029181.1:g.26058GT[21], NG_029181.1:g.26058GT[22], NG_029181.1:g.26058GT[23], NG_029181.1:g.26058GT[24], NG_029181.1:g.26058GT[25], NG_029181.1:g.26058GT[26], NG_029181.1:g.26058GT[28], NG_029181.1:g.26058GT[29]