Links from Gene
Items: 1 to 20 of 6001
3.
rs1491284349 has merged into rs1162218076 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 14:75539437
(GRCh38)
14:76005780
(GRCh37)
- Canonical SPDI:
- NC_000014.9:75539424:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000014.9:75539424:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000014.9:75539424:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000014.9:75539424:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000014.9:75539424:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000014.9:75539424:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000014.9:75539424:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000014.9:75539424:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000014.9:75539424:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000014.9:75539424:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000014.9:75539424:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:75539424:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:75539424:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:75539424:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:75539424:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:75539424:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:75539424:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:75539424:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:75539424:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:75539424:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:75539424:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:75539424:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:75539424:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:75539424:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:75539424:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:75539424:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:75539424:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:75539424:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:75539424:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:75539424:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:75539424:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:75539424:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:75539424:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:75539424:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:75539424:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:75539424:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:75539424:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:75539424:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- BATF (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000014.9:g.75539437_75539451del, NC_000014.9:g.75539438_75539451del, NC_000014.9:g.75539439_75539451del, NC_000014.9:g.75539440_75539451del, NC_000014.9:g.75539441_75539451del, NC_000014.9:g.75539442_75539451del, NC_000014.9:g.75539443_75539451del, NC_000014.9:g.75539444_75539451del, NC_000014.9:g.75539445_75539451del, NC_000014.9:g.75539446_75539451del, NC_000014.9:g.75539447_75539451del, NC_000014.9:g.75539448_75539451del, NC_000014.9:g.75539449_75539451del, NC_000014.9:g.75539450_75539451del, NC_000014.9:g.75539451del, NC_000014.9:g.75539451dup, NC_000014.9:g.75539450_75539451dup, NC_000014.9:g.75539449_75539451dup, NC_000014.9:g.75539448_75539451dup, NC_000014.9:g.75539447_75539451dup, NC_000014.9:g.75539446_75539451dup, NC_000014.9:g.75539445_75539451dup, NC_000014.9:g.75539444_75539451dup, NC_000014.9:g.75539443_75539451dup, NC_000014.9:g.75539442_75539451dup, NC_000014.9:g.75539441_75539451dup, NC_000014.9:g.75539440_75539451dup, NC_000014.9:g.75539439_75539451dup, NC_000014.9:g.75539438_75539451dup, NC_000014.9:g.75539437_75539451dup, NC_000014.9:g.75539436_75539451dup, NC_000014.9:g.75539435_75539451dup, NC_000014.9:g.75539434_75539451dup, NC_000014.9:g.75539433_75539451dup, NC_000014.9:g.75539432_75539451dup, NC_000014.9:g.75539431_75539451dup, NC_000014.9:g.75539425_75539451dup, NC_000014.9:g.75539451_75539452insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.76005780_76005794del, NC_000014.8:g.76005781_76005794del, NC_000014.8:g.76005782_76005794del, NC_000014.8:g.76005783_76005794del, NC_000014.8:g.76005784_76005794del, NC_000014.8:g.76005785_76005794del, NC_000014.8:g.76005786_76005794del, NC_000014.8:g.76005787_76005794del, NC_000014.8:g.76005788_76005794del, NC_000014.8:g.76005789_76005794del, NC_000014.8:g.76005790_76005794del, NC_000014.8:g.76005791_76005794del, NC_000014.8:g.76005792_76005794del, NC_000014.8:g.76005793_76005794del, NC_000014.8:g.76005794del, NC_000014.8:g.76005794dup, NC_000014.8:g.76005793_76005794dup, NC_000014.8:g.76005792_76005794dup, NC_000014.8:g.76005791_76005794dup, NC_000014.8:g.76005790_76005794dup, NC_000014.8:g.76005789_76005794dup, NC_000014.8:g.76005788_76005794dup, NC_000014.8:g.76005787_76005794dup, NC_000014.8:g.76005786_76005794dup, NC_000014.8:g.76005785_76005794dup, NC_000014.8:g.76005784_76005794dup, NC_000014.8:g.76005783_76005794dup, NC_000014.8:g.76005782_76005794dup, NC_000014.8:g.76005781_76005794dup, NC_000014.8:g.76005780_76005794dup, NC_000014.8:g.76005779_76005794dup, NC_000014.8:g.76005778_76005794dup, NC_000014.8:g.76005777_76005794dup, NC_000014.8:g.76005776_76005794dup, NC_000014.8:g.76005775_76005794dup, NC_000014.8:g.76005774_76005794dup, NC_000014.8:g.76005768_76005794dup, NC_000014.8:g.76005794_76005795insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
4.
rs1491209187 has merged into rs903959532 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AGAG>-,AG,AGAGAG
[Show Flanks]
- Chromosome:
- 14:75522453
(GRCh38)
14:75988796
(GRCh37)
- Canonical SPDI:
- NC_000014.9:75522442:AGAGAGAGAGAGAG:AGAGAGAGAG,NC_000014.9:75522442:AGAGAGAGAGAGAG:AGAGAGAGAGAG,NC_000014.9:75522442:AGAGAGAGAGAGAG:AGAGAGAGAGAGAGAG
- Gene:
- BATF (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AGAGAGAGAGAG=0./0
(
ALFA)
-=0.000011/3
(TOPMED)
AG=0.000106/2
(TOMMO)
-=0.003275/6
(Korea1K)
- HGVS:
5.
rs1491181583 has merged into rs888084841 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAA>-,A,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 14:75533436
(GRCh38)
14:75999779
(GRCh37)
- Canonical SPDI:
- NC_000014.9:75533427:AAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000014.9:75533427:AAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000014.9:75533427:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000014.9:75533427:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000014.9:75533427:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000014.9:75533427:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000014.9:75533427:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000014.9:75533427:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000014.9:75533427:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000014.9:75533427:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:75533427:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:75533427:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:75533427:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- BATF (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAA=0./0
(
ALFA)
-=0.000094/25
(TOPMED)
- HGVS:
NC_000014.9:g.75533436_75533446del, NC_000014.9:g.75533437_75533446del, NC_000014.9:g.75533442_75533446del, NC_000014.9:g.75533443_75533446del, NC_000014.9:g.75533444_75533446del, NC_000014.9:g.75533445_75533446del, NC_000014.9:g.75533446del, NC_000014.9:g.75533446dup, NC_000014.9:g.75533445_75533446dup, NC_000014.9:g.75533444_75533446dup, NC_000014.9:g.75533443_75533446dup, NC_000014.9:g.75533442_75533446dup, NC_000014.9:g.75533441_75533446dup, NC_000014.8:g.75999779_75999789del, NC_000014.8:g.75999780_75999789del, NC_000014.8:g.75999785_75999789del, NC_000014.8:g.75999786_75999789del, NC_000014.8:g.75999787_75999789del, NC_000014.8:g.75999788_75999789del, NC_000014.8:g.75999789del, NC_000014.8:g.75999789dup, NC_000014.8:g.75999788_75999789dup, NC_000014.8:g.75999787_75999789dup, NC_000014.8:g.75999786_75999789dup, NC_000014.8:g.75999785_75999789dup, NC_000014.8:g.75999784_75999789dup
6.
rs1491120502 has merged into rs67545560 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 14:75544578
(GRCh38)
14:76010921
(GRCh37)
- Canonical SPDI:
- NC_000014.9:75544562:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000014.9:75544562:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000014.9:75544562:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000014.9:75544562:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000014.9:75544562:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000014.9:75544562:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000014.9:75544562:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000014.9:75544562:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:75544562:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:75544562:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:75544562:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- BATF (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAAAA=0./0
(
ALFA)
-=0.05/2
(GENOME_DK)
- HGVS:
NC_000014.9:g.75544578_75544587del, NC_000014.9:g.75544579_75544587del, NC_000014.9:g.75544580_75544587del, NC_000014.9:g.75544581_75544587del, NC_000014.9:g.75544582_75544587del, NC_000014.9:g.75544583_75544587del, NC_000014.9:g.75544584_75544587del, NC_000014.9:g.75544585_75544587del, NC_000014.9:g.75544586_75544587del, NC_000014.9:g.75544587del, NC_000014.9:g.75544587dup, NC_000014.8:g.76010921_76010930del, NC_000014.8:g.76010922_76010930del, NC_000014.8:g.76010923_76010930del, NC_000014.8:g.76010924_76010930del, NC_000014.8:g.76010925_76010930del, NC_000014.8:g.76010926_76010930del, NC_000014.8:g.76010927_76010930del, NC_000014.8:g.76010928_76010930del, NC_000014.8:g.76010929_76010930del, NC_000014.8:g.76010930del, NC_000014.8:g.76010930dup
7.
rs1491037594 has merged into rs56386431 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 14:75530073
(GRCh38)
14:75996416
(GRCh37)
- Canonical SPDI:
- NC_000014.9:75530061:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000014.9:75530061:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000014.9:75530061:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000014.9:75530061:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000014.9:75530061:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000014.9:75530061:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000014.9:75530061:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000014.9:75530061:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000014.9:75530061:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000014.9:75530061:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000014.9:75530061:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- BATF (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAA=0./0
(
ALFA)
-=0.1629/816
(1000Genomes)
- HGVS:
NC_000014.9:g.75530073_75530079del, NC_000014.9:g.75530074_75530079del, NC_000014.9:g.75530075_75530079del, NC_000014.9:g.75530076_75530079del, NC_000014.9:g.75530077_75530079del, NC_000014.9:g.75530078_75530079del, NC_000014.9:g.75530079del, NC_000014.9:g.75530079dup, NC_000014.9:g.75530078_75530079dup, NC_000014.9:g.75530077_75530079dup, NC_000014.9:g.75530074_75530079dup, NC_000014.8:g.75996416_75996422del, NC_000014.8:g.75996417_75996422del, NC_000014.8:g.75996418_75996422del, NC_000014.8:g.75996419_75996422del, NC_000014.8:g.75996420_75996422del, NC_000014.8:g.75996421_75996422del, NC_000014.8:g.75996422del, NC_000014.8:g.75996422dup, NC_000014.8:g.75996421_75996422dup, NC_000014.8:g.75996420_75996422dup, NC_000014.8:g.75996417_75996422dup
8.
rs1490781110 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- C>-,CC
[Show Flanks]
- Chromosome:
- 14:75544390
(GRCh38)
14:76010733
(GRCh37)
- Canonical SPDI:
- NC_000014.9:75544389:CCCC:CCC,NC_000014.9:75544389:CCCC:CCCCC
- Gene:
- BATF (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
CCCCC=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
- HGVS:
9.
rs1490678248 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 14:75523752
(GRCh38)
14:75990095
(GRCh37)
- Canonical SPDI:
- NC_000014.9:75523751:A:T
- Gene:
- BATF (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
10.
rs1490598726 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 14:75528963
(GRCh38)
14:75995306
(GRCh37)
- Canonical SPDI:
- NC_000014.9:75528962:G:A,NC_000014.9:75528962:G:T
- Gene:
- BATF (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
11.
rs1490428141 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 14:75536551
(GRCh38)
14:76002894
(GRCh37)
- Canonical SPDI:
- NC_000014.9:75536550:CCCC:CCC
- Gene:
- BATF (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
CCC=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
12.
rs1490403959 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:75521553
(GRCh38)
14:75987896
(GRCh37)
- Canonical SPDI:
- NC_000014.9:75521552:C:T
- Gene:
- BATF (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
T=0.000042/11
(TOPMED)
- HGVS:
13.
rs1490360639 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 14:75537486
(GRCh38)
14:76003829
(GRCh37)
- Canonical SPDI:
- NC_000014.9:75537485:G:A,NC_000014.9:75537485:G:C
- Gene:
- BATF (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
14.
rs1490240127 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:75521125
(GRCh38)
14:75987468
(GRCh37)
- Canonical SPDI:
- NC_000014.9:75521124:G:A
- Gene:
- BATF (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_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.
rs1490058534 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 14:75527900
(GRCh38)
14:75994243
(GRCh37)
- Canonical SPDI:
- NC_000014.9:75527899:C:A
- Gene:
- BATF (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
16.
rs1489734313 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:75545315
(GRCh38)
14:76011658
(GRCh37)
- Canonical SPDI:
- NC_000014.9:75545314:G:A
- Gene:
- BATF (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
19.
rs1489226722 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- T>-
[Show Flanks]
- Chromosome:
- 14:75534108
(GRCh38)
14:76000451
(GRCh37)
- Canonical SPDI:
- NC_000014.9:75534107:TTT:TT
- Gene:
- BATF (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TT=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
- HGVS:
20.
rs1489162950 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:75536627
(GRCh38)
14:76002970
(GRCh37)
- Canonical SPDI:
- NC_000014.9:75536626:G:A
- Gene:
- BATF (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS: