Links from Gene
Items: 1 to 20 of 31020
1.
rs1491569793 has merged into rs34686813 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAA>-,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 14:50536445
(GRCh38)
14:51003163
(GRCh37)
- Canonical SPDI:
- NC_000014.9:50536436:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000014.9:50536436:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000014.9:50536436:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000014.9:50536436:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000014.9:50536436:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000014.9:50536436:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000014.9:50536436:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000014.9:50536436:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000014.9:50536436:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000014.9:50536436:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000014.9:50536436:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:50536436:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:50536436:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- MAP4K5 (Varview), ATL1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAA=0./0
(
ALFA)
-=0.0641/247
(ALSPAC)
A=0.0773/387
(1000Genomes)
- HGVS:
NC_000014.9:g.50536445_50536457del, NC_000014.9:g.50536449_50536457del, NC_000014.9:g.50536450_50536457del, NC_000014.9:g.50536451_50536457del, NC_000014.9:g.50536452_50536457del, NC_000014.9:g.50536453_50536457del, NC_000014.9:g.50536454_50536457del, NC_000014.9:g.50536455_50536457del, NC_000014.9:g.50536456_50536457del, NC_000014.9:g.50536457del, NC_000014.9:g.50536457dup, NC_000014.9:g.50536456_50536457dup, NC_000014.9:g.50536454_50536457dup, NC_000014.8:g.51003163_51003175del, NC_000014.8:g.51003167_51003175del, NC_000014.8:g.51003168_51003175del, NC_000014.8:g.51003169_51003175del, NC_000014.8:g.51003170_51003175del, NC_000014.8:g.51003171_51003175del, NC_000014.8:g.51003172_51003175del, NC_000014.8:g.51003173_51003175del, NC_000014.8:g.51003174_51003175del, NC_000014.8:g.51003175del, NC_000014.8:g.51003175dup, NC_000014.8:g.51003174_51003175dup, NC_000014.8:g.51003172_51003175dup, NG_009028.1:g.8364_8376del, NG_009028.1:g.8368_8376del, NG_009028.1:g.8369_8376del, NG_009028.1:g.8370_8376del, NG_009028.1:g.8371_8376del, NG_009028.1:g.8372_8376del, NG_009028.1:g.8373_8376del, NG_009028.1:g.8374_8376del, NG_009028.1:g.8375_8376del, NG_009028.1:g.8376del, NG_009028.1:g.8376dup, NG_009028.1:g.8375_8376dup, NG_009028.1:g.8373_8376dup
3.
rs1491431901 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AG>-
[Show Flanks]
- Chromosome:
- 14:50491827
(GRCh38)
14:50958545
(GRCh37)
- Canonical SPDI:
- NC_000014.9:50491826:AG:
- Gene:
- MAP4K5 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000014/2
(GnomAD)
- HGVS:
4.
rs1491394020 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 14:50487386
(GRCh38)
14:50954104
(GRCh37)
- Canonical SPDI:
- NC_000014.9:50487385:CT:
- Gene:
- MAP4K5 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
- HGVS:
5.
rs1491386133 has merged into rs11312204 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 14:50492604
(GRCh38)
14:50959322
(GRCh37)
- Canonical SPDI:
- NC_000014.9:50492591:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000014.9:50492591:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000014.9:50492591:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000014.9:50492591:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000014.9:50492591:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000014.9:50492591:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000014.9:50492591:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000014.9:50492591:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000014.9:50492591:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:50492591:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- MAP4K5 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAA=0./0
(
ALFA)
-=0.1653/637
(ALSPAC)
A=0.2147/1075
(1000Genomes)
- HGVS:
NC_000014.9:g.50492604_50492609del, NC_000014.9:g.50492605_50492609del, NC_000014.9:g.50492606_50492609del, NC_000014.9:g.50492607_50492609del, NC_000014.9:g.50492608_50492609del, NC_000014.9:g.50492609del, NC_000014.9:g.50492609dup, NC_000014.9:g.50492607_50492609dup, NC_000014.9:g.50492606_50492609dup, NC_000014.9:g.50492603_50492609dup, NC_000014.8:g.50959322_50959327del, NC_000014.8:g.50959323_50959327del, NC_000014.8:g.50959324_50959327del, NC_000014.8:g.50959325_50959327del, NC_000014.8:g.50959326_50959327del, NC_000014.8:g.50959327del, NC_000014.8:g.50959327dup, NC_000014.8:g.50959325_50959327dup, NC_000014.8:g.50959324_50959327dup, NC_000014.8:g.50959321_50959327dup
7.
rs1491296691 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AG>-
[Show Flanks]
- Chromosome:
- 14:50548066
(GRCh38)
14:51014784
(GRCh37)
- Canonical SPDI:
- NC_000014.9:50548065:AG:
- Gene:
- MAP4K5 (Varview), ATL1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000014/2
(GnomAD)
-=0.000023/6
(TOPMED)
- HGVS:
8.
rs1491261362 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 14:50548066
(GRCh38)
14:51014785
(GRCh37)
- Canonical SPDI:
- NC_000014.9:50548066:GGGG:GGGGG
- Gene:
- MAP4K5 (Varview), ATL1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
GGGGG=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
9.
rs1491212461 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 14:50527411
(GRCh38)
14:50994129
(GRCh37)
- Canonical SPDI:
- NC_000014.9:50527410:CA:
- Gene:
- MAP4K5 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000023/3
(GnomAD)
- HGVS:
10.
rs1491194603 has merged into rs34038301 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTT>-,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTCTTTCTTTTTCTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 14:50479193
(GRCh38)
14:50945911
(GRCh37)
- Canonical SPDI:
- NC_000014.9:50479186:TTTTTTTTTTT:TTTTTT,NC_000014.9:50479186:TTTTTTTTTTT:TTTTTTTT,NC_000014.9:50479186:TTTTTTTTTTT:TTTTTTTTT,NC_000014.9:50479186:TTTTTTTTTTT:TTTTTTTTTT,NC_000014.9:50479186:TTTTTTTTTTT:TTTTTTTTTTTT,NC_000014.9:50479186:TTTTTTTTTTT:TTTTTTTTTTTTT,NC_000014.9:50479186:TTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000014.9:50479186:TTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:50479186:TTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTCTTTCTTTTTCTTTTTTTTTTTT
- Gene:
- MAP4K5 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTT=0./0
(
ALFA)
-=0.1142/572
(1000Genomes)
- HGVS:
NC_000014.9:g.50479193_50479197del, NC_000014.9:g.50479195_50479197del, NC_000014.9:g.50479196_50479197del, NC_000014.9:g.50479197del, NC_000014.9:g.50479197dup, NC_000014.9:g.50479196_50479197dup, NC_000014.9:g.50479195_50479197dup, NC_000014.9:g.50479197_50479198insTTTTTTTTTTTT, NC_000014.9:g.50479187_50479197T[24]CTTTTTTTTTTTTCTTTCTTTTTCTTTTTTTTTTTT[1], NC_000014.8:g.50945911_50945915del, NC_000014.8:g.50945913_50945915del, NC_000014.8:g.50945914_50945915del, NC_000014.8:g.50945915del, NC_000014.8:g.50945915dup, NC_000014.8:g.50945914_50945915dup, NC_000014.8:g.50945913_50945915dup, NC_000014.8:g.50945915_50945916insTTTTTTTTTTTT, NC_000014.8:g.50945905_50945915T[24]CTTTTTTTTTTTTCTTTCTTTTTCTTTTTTTTTTTT[1]
11.
rs1491145074 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CACACACACACACACACATA,CACACACACACACACATA,CACACACACACATA,CACACACACATA,CACACACATA,CACACATA,CACATA,CATA,CATATA
[Show Flanks]
- Chromosome:
- 14:50441797
(GRCh38)
14:50908516
(GRCh37)
- Canonical SPDI:
- NC_000014.9:50441797:A:ACACACACACACACACACATA,NC_000014.9:50441797:A:ACACACACACACACACATA,NC_000014.9:50441797:A:ACACACACACACATA,NC_000014.9:50441797:A:ACACACACACATA,NC_000014.9:50441797:A:ACACACACATA,NC_000014.9:50441797:A:ACACACATA,NC_000014.9:50441797:A:ACACATA,NC_000014.9:50441797:A:ACATA,NC_000014.9:50441797:A:ACATATA
- Gene:
- MAP4K5 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000014.9:g.50441798AC[9]ATA[1], NC_000014.9:g.50441798AC[8]ATA[1], NC_000014.9:g.50441798AC[6]ATA[1], NC_000014.9:g.50441798AC[5]ATA[1], NC_000014.9:g.50441798AC[4]ATA[1], NC_000014.9:g.50441798AC[3]ATA[1], NC_000014.9:g.50441798AC[2]ATA[1], NC_000014.9:g.50441798_50441799insCATA, NC_000014.9:g.50441798_50441799insCATATA, NC_000014.8:g.50908516AC[9]ATA[1], NC_000014.8:g.50908516AC[8]ATA[1], NC_000014.8:g.50908516AC[6]ATA[1], NC_000014.8:g.50908516AC[5]ATA[1], NC_000014.8:g.50908516AC[4]ATA[1], NC_000014.8:g.50908516AC[3]ATA[1], NC_000014.8:g.50908516AC[2]ATA[1], NC_000014.8:g.50908516_50908517insCATA, NC_000014.8:g.50908516_50908517insCATATA
12.
rs1491135700 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 14:50491827
(GRCh38)
14:50958546
(GRCh37)
- Canonical SPDI:
- NC_000014.9:50491827:GG:GGG
- Gene:
- MAP4K5 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
GGG=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
13.
rs1491049023 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 14:50486096
(GRCh38)
14:50952815
(GRCh37)
- Canonical SPDI:
- NC_000014.9:50486096:C:CC
- Gene:
- MAP4K5 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CC=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000015/4
(TOPMED)
C=0.000071/2
(TOMMO)
- HGVS:
14.
rs1490997241 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:50555483
(GRCh38)
14:51022201
(GRCh37)
- Canonical SPDI:
- NC_000014.9:50555482:C:T
- Gene:
- MAP4K5 (Varview), ATL1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000015/4
(TOPMED)
- HGVS:
15.
rs1490971580 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 14:50484833
(GRCh38)
14:50951551
(GRCh37)
- Canonical SPDI:
- NC_000014.9:50484832:A:G
- Gene:
- MAP4K5 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
G=0.000029/4
(GnomAD)
- HGVS:
16.
rs1490902777 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 14:50470135
(GRCh38)
14:50936853
(GRCh37)
- Canonical SPDI:
- NC_000014.9:50470134:T:C
- Gene:
- MAP4K5 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000019/5
(TOPMED)
C=0.000318/5
(TOMMO)
C=0.001027/3
(KOREAN)
C=0.002183/4
(Korea1K)
- HGVS:
17.
rs1490897291 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:50538921
(GRCh38)
14:51005639
(GRCh37)
- Canonical SPDI:
- NC_000014.9:50538920:G:A
- Gene:
- MAP4K5 (Varview), ATL1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,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:
18.
rs1490887295 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 14:50460962
(GRCh38)
14:50927680
(GRCh37)
- Canonical SPDI:
- NC_000014.9:50460961:G:T
- Gene:
- MAP4K5 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
19.
rs1490839023 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 14:50476864
(GRCh38)
14:50943582
(GRCh37)
- Canonical SPDI:
- NC_000014.9:50476863:T:C
- Gene:
- MAP4K5 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
20.
rs1490832183 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:50420557
(GRCh38)
14:50887275
(GRCh37)
- Canonical SPDI:
- NC_000014.9:50420556:G:A
- Gene:
- MAP4K5 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000026/7
(TOPMED)
A=0.000036/5
(GnomAD)
- HGVS: