Links from Gene
Items: 1 to 20 of 8360
1.
rs1491482789 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 4:6213731
(GRCh38)
4:6215458
(GRCh37)
- Canonical SPDI:
- NC_000004.12:6213730:AT:
- Gene:
- JAKMIP1-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000017/2
(GnomAD)
-=0.004913/9
(Korea1K)
-=0.005985/100
(TOMMO)
- HGVS:
2.
rs1491447392 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TGTTTTG
[Show Flanks]
- Chromosome:
- 4:6213731
(GRCh38)
4:6215459
(GRCh37)
- Canonical SPDI:
- NC_000004.12:6213731:TGTTTTG:TGTTTTGTGTTTTG
- Gene:
- JAKMIP1-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TGTTTTGTGTTTTG=0./0
(
ALFA)
- HGVS:
3.
rs1491310136 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GACACACACA
[Show Flanks]
- Chromosome:
- 4:6212400
(GRCh38)
4:6214128
(GRCh37)
- Canonical SPDI:
- NC_000004.12:6212400:ACACA:ACACAGACACACACA
- Gene:
- JAKMIP1-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
ACACAGACACACACA=0./0
(
ALFA)
ACACAGACAC=0.000037/5
(GnomAD)
- HGVS:
5.
rs1491139144 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 4:6211672
(GRCh38)
4:6213400
(GRCh37)
- Canonical SPDI:
- NC_000004.12:6211672::A
- Gene:
- JAKMIP1-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
A=0.00022/6
(GnomAD)
A=0.00025/4
(TOMMO)
- HGVS:
6.
rs1491064477 has merged into rs11411203 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAA>-,A,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 4:6209637
(GRCh38)
4:6211364
(GRCh37)
- Canonical SPDI:
- NC_000004.12:6209624:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000004.12:6209624:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:6209624:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:6209624:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:6209624:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:6209624:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000004.12:6209624:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000004.12:6209624:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000004.12:6209624:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:6209624:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:6209624:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:6209624:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:6209624:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:6209624:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:6209624:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:6209624:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- JAKMIP1-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAA=0./0
(
ALFA)
-=0.1122/562
(1000Genomes)
A=0.375/3
(KOREAN)
A=0.4/16
(GENOME_DK)
- HGVS:
NC_000004.12:g.6209637_6209648del, NC_000004.12:g.6209638_6209648del, NC_000004.12:g.6209641_6209648del, NC_000004.12:g.6209642_6209648del, NC_000004.12:g.6209643_6209648del, NC_000004.12:g.6209644_6209648del, NC_000004.12:g.6209645_6209648del, NC_000004.12:g.6209646_6209648del, NC_000004.12:g.6209647_6209648del, NC_000004.12:g.6209648del, NC_000004.12:g.6209648dup, NC_000004.12:g.6209647_6209648dup, NC_000004.12:g.6209646_6209648dup, NC_000004.12:g.6209645_6209648dup, NC_000004.12:g.6209644_6209648dup, NC_000004.12:g.6209643_6209648dup, NC_000004.11:g.6211364_6211375del, NC_000004.11:g.6211365_6211375del, NC_000004.11:g.6211368_6211375del, NC_000004.11:g.6211369_6211375del, NC_000004.11:g.6211370_6211375del, NC_000004.11:g.6211371_6211375del, NC_000004.11:g.6211372_6211375del, NC_000004.11:g.6211373_6211375del, NC_000004.11:g.6211374_6211375del, NC_000004.11:g.6211375del, NC_000004.11:g.6211375dup, NC_000004.11:g.6211374_6211375dup, NC_000004.11:g.6211373_6211375dup, NC_000004.11:g.6211372_6211375dup, NC_000004.11:g.6211371_6211375dup, NC_000004.11:g.6211370_6211375dup
7.
rs1491053114 has merged into rs200555252 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-
[Show Flanks]
- Chromosome:
- 4:6212437
(GRCh38)
4:6214164
(GRCh37)
- Canonical SPDI:
- NC_000004.12:6212434:AAAA:AA
- Gene:
- JAKMIP1-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
AAAA=0./0
(
ALFA)
-=0.000015/2
(GnomAD)
- HGVS:
8.
rs1491040358 has merged into rs60560125 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAATAACAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAGAAAAAAAAAAAATAAATTAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 4:6215853
(GRCh38)
4:6217580
(GRCh37)
- Canonical SPDI:
- NC_000004.12:6215842:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000004.12:6215842:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000004.12:6215842:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000004.12:6215842:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:6215842:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:6215842:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:6215842:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:6215842:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:6215842:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:6215842:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000004.12:6215842:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000004.12:6215842:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:6215842:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:6215842:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:6215842:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:6215842:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:6215842:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:6215842:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:6215842:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:6215842:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:6215842:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:6215842:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:6215842:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:6215842:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:6215842:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:6215842:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:6215842:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:6215842:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:6215842:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:6215842:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:6215842:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:6215842:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:6215842:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAACAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:6215842:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:6215842:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAATAAATTAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- JAKMIP1-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000004.12:g.6215853_6215862del, NC_000004.12:g.6215854_6215862del, NC_000004.12:g.6215855_6215862del, NC_000004.12:g.6215856_6215862del, NC_000004.12:g.6215857_6215862del, NC_000004.12:g.6215858_6215862del, NC_000004.12:g.6215859_6215862del, NC_000004.12:g.6215860_6215862del, NC_000004.12:g.6215861_6215862del, NC_000004.12:g.6215862del, NC_000004.12:g.6215862dup, NC_000004.12:g.6215861_6215862dup, NC_000004.12:g.6215860_6215862dup, NC_000004.12:g.6215859_6215862dup, NC_000004.12:g.6215858_6215862dup, NC_000004.12:g.6215857_6215862dup, NC_000004.12:g.6215856_6215862dup, NC_000004.12:g.6215855_6215862dup, NC_000004.12:g.6215854_6215862dup, NC_000004.12:g.6215853_6215862dup, NC_000004.12:g.6215852_6215862dup, NC_000004.12:g.6215851_6215862dup, NC_000004.12:g.6215850_6215862dup, NC_000004.12:g.6215849_6215862dup, NC_000004.12:g.6215848_6215862dup, NC_000004.12:g.6215847_6215862dup, NC_000004.12:g.6215845_6215862dup, NC_000004.12:g.6215862_6215863insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.6215862_6215863insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.6215862_6215863insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.6215862_6215863insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.6215843_6215862A[35]CAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000004.12:g.6215843_6215862A[34]TAACAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000004.12:g.6215843_6215862A[33]TAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000004.12:g.6215843_6215862A[21]GAAAAAAAAAAAATAAATTAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000004.11:g.6217580_6217589del, NC_000004.11:g.6217581_6217589del, NC_000004.11:g.6217582_6217589del, NC_000004.11:g.6217583_6217589del, NC_000004.11:g.6217584_6217589del, NC_000004.11:g.6217585_6217589del, NC_000004.11:g.6217586_6217589del, NC_000004.11:g.6217587_6217589del, NC_000004.11:g.6217588_6217589del, NC_000004.11:g.6217589del, NC_000004.11:g.6217589dup, NC_000004.11:g.6217588_6217589dup, NC_000004.11:g.6217587_6217589dup, NC_000004.11:g.6217586_6217589dup, NC_000004.11:g.6217585_6217589dup, NC_000004.11:g.6217584_6217589dup, NC_000004.11:g.6217583_6217589dup, NC_000004.11:g.6217582_6217589dup, NC_000004.11:g.6217581_6217589dup, NC_000004.11:g.6217580_6217589dup, NC_000004.11:g.6217579_6217589dup, NC_000004.11:g.6217578_6217589dup, NC_000004.11:g.6217577_6217589dup, NC_000004.11:g.6217576_6217589dup, NC_000004.11:g.6217575_6217589dup, NC_000004.11:g.6217574_6217589dup, NC_000004.11:g.6217572_6217589dup, NC_000004.11:g.6217589_6217590insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.6217589_6217590insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.6217589_6217590insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.6217589_6217590insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.6217570_6217589A[35]CAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000004.11:g.6217570_6217589A[34]TAACAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000004.11:g.6217570_6217589A[33]TAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000004.11:g.6217570_6217589A[21]GAAAAAAAAAAAATAAATTAAAAAAAAAAAAAAAAAAAAAAAAA[1]
9.
rs1490898148 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 4:6212075
(GRCh38)
4:6213802
(GRCh37)
- Canonical SPDI:
- NC_000004.12:6212074:T:A
- Gene:
- JAKMIP1-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
10.
rs1490892441 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 4:6199670
(GRCh38)
4:6201397
(GRCh37)
- Canonical SPDI:
- NC_000004.12:6199669:C:T
- Gene:
- JAKMIP1 (Varview), JAKMIP1-DT (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency
- MAF:
T=0.000007/1
(GnomAD)
- HGVS:
11.
rs1490683068 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 4:6215388
(GRCh38)
4:6217115
(GRCh37)
- Canonical SPDI:
- NC_000004.12:6215387:T:C
- Gene:
- JAKMIP1-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000156/1
(1000Genomes)
- HGVS:
12.
rs1490669597 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 4:6226622
(GRCh38)
4:6228349
(GRCh37)
- Canonical SPDI:
- NC_000004.12:6226621:A:G
- Gene:
- JAKMIP1-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
13.
rs1490644351 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 4:6225578
(GRCh38)
4:6227305
(GRCh37)
- Canonical SPDI:
- NC_000004.12:6225577:C:T
- Gene:
- JAKMIP1-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
- HGVS:
14.
rs1490628222 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 4:6212426
(GRCh38)
4:6214153
(GRCh37)
- Canonical SPDI:
- NC_000004.12:6212425:C:A
- Gene:
- JAKMIP1-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
15.
rs1490337107 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 4:6227445
(GRCh38)
4:6229172
(GRCh37)
- Canonical SPDI:
- NC_000004.12:6227444:G:A
- Gene:
- JAKMIP1-DT (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:
16.
rs1490191786 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 4:6214119
(GRCh38)
4:6215846
(GRCh37)
- Canonical SPDI:
- NC_000004.12:6214118:T:G
- Gene:
- JAKMIP1-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
G=0.000007/1
(GnomAD)
- HGVS:
17.
rs1490146415 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 4:6230481
(GRCh38)
4:6232208
(GRCh37)
- Canonical SPDI:
- NC_000004.12:6230480:G:C
- Gene:
- JAKMIP1-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.000071/1
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
18.
rs1490137486 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 4:6228497
(GRCh38)
4:6230224
(GRCh37)
- Canonical SPDI:
- NC_000004.12:6228496:A:G
- Gene:
- JAKMIP1-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
20.
rs1490010523 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 4:6206791
(GRCh38)
4:6208518
(GRCh37)
- Canonical SPDI:
- NC_000004.12:6206790:G:A
- Gene:
- JAKMIP1-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000169/2
(
ALFA)
A=0.000064/8
(GnomAD)
A=0.000546/1
(Korea1K)
- HGVS: