Links from Gene
Items: 1 to 20 of 11534
1.
rs1491400619 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AT
[Show Flanks]
- Chromosome:
- 15:43832744
(GRCh38)
15:44124943
(GRCh37)
- Canonical SPDI:
- NC_000015.10:43832744:T:TAT
- Gene:
- WDR76 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TAT=0./0
(
ALFA)
TA=0.00069/8
(GnomAD)
- HGVS:
2.
rs1491343677 has merged into rs201304087 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 15:43832755
(GRCh38)
15:44124953
(GRCh37)
- Canonical SPDI:
- NC_000015.10:43832743:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000015.10:43832743:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000015.10:43832743:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000015.10:43832743:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000015.10:43832743:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000015.10:43832743:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000015.10:43832743:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000015.10:43832743:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000015.10:43832743:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000015.10:43832743:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000015.10:43832743:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000015.10:43832743:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:43832743:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:43832743:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:43832743:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:43832743:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:43832743:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:43832743:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:43832743:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:43832743:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:43832743:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:43832743:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:43832743:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:43832743:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:43832743:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:43832743:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:43832743:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:43832743:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:43832743:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:43832743:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:43832743:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:43832743:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:43832743:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:43832743:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:43832743:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:43832743:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:43832743:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- WDR76 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000015.10:g.43832755_43832770del, NC_000015.10:g.43832756_43832770del, NC_000015.10:g.43832757_43832770del, NC_000015.10:g.43832758_43832770del, NC_000015.10:g.43832759_43832770del, NC_000015.10:g.43832760_43832770del, NC_000015.10:g.43832761_43832770del, NC_000015.10:g.43832762_43832770del, NC_000015.10:g.43832763_43832770del, NC_000015.10:g.43832764_43832770del, NC_000015.10:g.43832765_43832770del, NC_000015.10:g.43832766_43832770del, NC_000015.10:g.43832767_43832770del, NC_000015.10:g.43832768_43832770del, NC_000015.10:g.43832769_43832770del, NC_000015.10:g.43832770del, NC_000015.10:g.43832770dup, NC_000015.10:g.43832769_43832770dup, NC_000015.10:g.43832768_43832770dup, NC_000015.10:g.43832767_43832770dup, NC_000015.10:g.43832766_43832770dup, NC_000015.10:g.43832765_43832770dup, NC_000015.10:g.43832764_43832770dup, NC_000015.10:g.43832763_43832770dup, NC_000015.10:g.43832762_43832770dup, NC_000015.10:g.43832761_43832770dup, NC_000015.10:g.43832760_43832770dup, NC_000015.10:g.43832759_43832770dup, NC_000015.10:g.43832758_43832770dup, NC_000015.10:g.43832757_43832770dup, NC_000015.10:g.43832756_43832770dup, NC_000015.10:g.43832755_43832770dup, NC_000015.10:g.43832754_43832770dup, NC_000015.10:g.43832751_43832770dup, NC_000015.10:g.43832749_43832770dup, NC_000015.10:g.43832748_43832770dup, NC_000015.10:g.43832747_43832770dup, NC_000015.9:g.44124953_44124968del, NC_000015.9:g.44124954_44124968del, NC_000015.9:g.44124955_44124968del, NC_000015.9:g.44124956_44124968del, NC_000015.9:g.44124957_44124968del, NC_000015.9:g.44124958_44124968del, NC_000015.9:g.44124959_44124968del, NC_000015.9:g.44124960_44124968del, NC_000015.9:g.44124961_44124968del, NC_000015.9:g.44124962_44124968del, NC_000015.9:g.44124963_44124968del, NC_000015.9:g.44124964_44124968del, NC_000015.9:g.44124965_44124968del, NC_000015.9:g.44124966_44124968del, NC_000015.9:g.44124967_44124968del, NC_000015.9:g.44124968del, NC_000015.9:g.44124968dup, NC_000015.9:g.44124967_44124968dup, NC_000015.9:g.44124966_44124968dup, NC_000015.9:g.44124965_44124968dup, NC_000015.9:g.44124964_44124968dup, NC_000015.9:g.44124963_44124968dup, NC_000015.9:g.44124962_44124968dup, NC_000015.9:g.44124961_44124968dup, NC_000015.9:g.44124960_44124968dup, NC_000015.9:g.44124959_44124968dup, NC_000015.9:g.44124958_44124968dup, NC_000015.9:g.44124957_44124968dup, NC_000015.9:g.44124956_44124968dup, NC_000015.9:g.44124955_44124968dup, NC_000015.9:g.44124954_44124968dup, NC_000015.9:g.44124953_44124968dup, NC_000015.9:g.44124952_44124968dup, NC_000015.9:g.44124949_44124968dup, NC_000015.9:g.44124947_44124968dup, NC_000015.9:g.44124946_44124968dup, NC_000015.9:g.44124945_44124968dup
3.
rs1491321748 has merged into rs572785012 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTT>-,TTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 15:43833327
(GRCh38)
15:44125525
(GRCh37)
- Canonical SPDI:
- NC_000015.10:43833320:TTTTTTTTTTTTTTTT:TTTTTT,NC_000015.10:43833320:TTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000015.10:43833320:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000015.10:43833320:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000015.10:43833320:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000015.10:43833320:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000015.10:43833320:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000015.10:43833320:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000015.10:43833320:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000015.10:43833320:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000015.10:43833320:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:43833320:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:43833320:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:43833320:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- WDR76 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTT=0./0
(
ALFA)
-=0.10403/521
(1000Genomes)
T=0.175/7
(GENOME_DK)
- HGVS:
NC_000015.10:g.43833327_43833336del, NC_000015.10:g.43833330_43833336del, NC_000015.10:g.43833333_43833336del, NC_000015.10:g.43833334_43833336del, NC_000015.10:g.43833335_43833336del, NC_000015.10:g.43833336del, NC_000015.10:g.43833336dup, NC_000015.10:g.43833335_43833336dup, NC_000015.10:g.43833334_43833336dup, NC_000015.10:g.43833332_43833336dup, NC_000015.10:g.43833331_43833336dup, NC_000015.10:g.43833327_43833336dup, NC_000015.10:g.43833326_43833336dup, NC_000015.10:g.43833324_43833336dup, NC_000015.9:g.44125525_44125534del, NC_000015.9:g.44125528_44125534del, NC_000015.9:g.44125531_44125534del, NC_000015.9:g.44125532_44125534del, NC_000015.9:g.44125533_44125534del, NC_000015.9:g.44125534del, NC_000015.9:g.44125534dup, NC_000015.9:g.44125533_44125534dup, NC_000015.9:g.44125532_44125534dup, NC_000015.9:g.44125530_44125534dup, NC_000015.9:g.44125529_44125534dup, NC_000015.9:g.44125525_44125534dup, NC_000015.9:g.44125524_44125534dup, NC_000015.9:g.44125522_44125534dup
4.
rs1491276665 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 15:43847022
(GRCh38)
15:44139220
(GRCh37)
- Canonical SPDI:
- NC_000015.10:43847021:CA:
- Gene:
- WDR76 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.0027/76
(TOMMO)
- HGVS:
5.
rs1491257311 has merged into rs57096588 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAA>-,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 15:43847034
(GRCh38)
15:44139232
(GRCh37)
- Canonical SPDI:
- NC_000015.10:43847022:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000015.10:43847022:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000015.10:43847022:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000015.10:43847022:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000015.10:43847022:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000015.10:43847022:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000015.10:43847022:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:43847022:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:43847022:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:43847022:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:43847022:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:43847022:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:43847022:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:43847022:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:43847022:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:43847022:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:43847022:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:43847022:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:43847022:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:43847022:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:43847022:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- WDR76 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAAAA=0./0
(
ALFA)
A=0.2684/1344
(1000Genomes)
- HGVS:
NC_000015.10:g.43847034_43847046del, NC_000015.10:g.43847039_43847046del, NC_000015.10:g.43847040_43847046del, NC_000015.10:g.43847042_43847046del, NC_000015.10:g.43847043_43847046del, NC_000015.10:g.43847044_43847046del, NC_000015.10:g.43847045_43847046del, NC_000015.10:g.43847046del, NC_000015.10:g.43847046dup, NC_000015.10:g.43847045_43847046dup, NC_000015.10:g.43847044_43847046dup, NC_000015.10:g.43847043_43847046dup, NC_000015.10:g.43847042_43847046dup, NC_000015.10:g.43847041_43847046dup, NC_000015.10:g.43847040_43847046dup, NC_000015.10:g.43847028_43847046dup, NC_000015.10:g.43847046_43847047insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.10:g.43847046_43847047insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.10:g.43847046_43847047insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.10:g.43847046_43847047insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.10:g.43847046_43847047insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.9:g.44139232_44139244del, NC_000015.9:g.44139237_44139244del, NC_000015.9:g.44139238_44139244del, NC_000015.9:g.44139240_44139244del, NC_000015.9:g.44139241_44139244del, NC_000015.9:g.44139242_44139244del, NC_000015.9:g.44139243_44139244del, NC_000015.9:g.44139244del, NC_000015.9:g.44139244dup, NC_000015.9:g.44139243_44139244dup, NC_000015.9:g.44139242_44139244dup, NC_000015.9:g.44139241_44139244dup, NC_000015.9:g.44139240_44139244dup, NC_000015.9:g.44139239_44139244dup, NC_000015.9:g.44139238_44139244dup, NC_000015.9:g.44139226_44139244dup, NC_000015.9:g.44139244_44139245insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.9:g.44139244_44139245insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.9:g.44139244_44139245insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.9:g.44139244_44139245insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.9:g.44139244_44139245insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
7.
rs1491125261 has merged into rs5812253 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTT>-,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 15:43866633
(GRCh38)
15:44158831
(GRCh37)
- Canonical SPDI:
- NC_000015.10:43866622:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000015.10:43866622:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000015.10:43866622:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000015.10:43866622:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000015.10:43866622:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000015.10:43866622:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000015.10:43866622:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000015.10:43866622:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000015.10:43866622:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:43866622:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:43866622:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- WDR76 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.4688/2348
(1000Genomes)
T=0.475/19
(GENOME_DK)
- HGVS:
NC_000015.10:g.43866633_43866643del, NC_000015.10:g.43866637_43866643del, NC_000015.10:g.43866638_43866643del, NC_000015.10:g.43866639_43866643del, NC_000015.10:g.43866640_43866643del, NC_000015.10:g.43866641_43866643del, NC_000015.10:g.43866642_43866643del, NC_000015.10:g.43866643del, NC_000015.10:g.43866643dup, NC_000015.10:g.43866642_43866643dup, NC_000015.10:g.43866640_43866643dup, NC_000015.9:g.44158831_44158841del, NC_000015.9:g.44158835_44158841del, NC_000015.9:g.44158836_44158841del, NC_000015.9:g.44158837_44158841del, NC_000015.9:g.44158838_44158841del, NC_000015.9:g.44158839_44158841del, NC_000015.9:g.44158840_44158841del, NC_000015.9:g.44158841del, NC_000015.9:g.44158841dup, NC_000015.9:g.44158840_44158841dup, NC_000015.9:g.44158838_44158841dup, NM_024908.4:c.*241_*251del, NM_024908.4:c.*245_*251del, NM_024908.4:c.*246_*251del, NM_024908.4:c.*247_*251del, NM_024908.4:c.*248_*251del, NM_024908.4:c.*249_*251del, NM_024908.4:c.*250_*251del, NM_024908.4:c.*251del, NM_024908.4:c.*251dup, NM_024908.4:c.*250_*251dup, NM_024908.4:c.*248_*251dup, NM_024908.3:c.*241_*251del, NM_024908.3:c.*245_*251del, NM_024908.3:c.*246_*251del, NM_024908.3:c.*247_*251del, NM_024908.3:c.*248_*251del, NM_024908.3:c.*249_*251del, NM_024908.3:c.*250_*251del, NM_024908.3:c.*251del, NM_024908.3:c.*251dup, NM_024908.3:c.*250_*251dup, NM_024908.3:c.*248_*251dup, NM_001167941.2:c.*241_*251del, NM_001167941.2:c.*245_*251del, NM_001167941.2:c.*246_*251del, NM_001167941.2:c.*247_*251del, NM_001167941.2:c.*248_*251del, NM_001167941.2:c.*249_*251del, NM_001167941.2:c.*250_*251del, NM_001167941.2:c.*251del, NM_001167941.2:c.*251dup, NM_001167941.2:c.*250_*251dup, NM_001167941.2:c.*248_*251dup, NM_001167941.1:c.*241_*251del, NM_001167941.1:c.*245_*251del, NM_001167941.1:c.*246_*251del, NM_001167941.1:c.*247_*251del, NM_001167941.1:c.*248_*251del, NM_001167941.1:c.*249_*251del, NM_001167941.1:c.*250_*251del, NM_001167941.1:c.*251del, NM_001167941.1:c.*251dup, NM_001167941.1:c.*250_*251dup, NM_001167941.1:c.*248_*251dup
8.
rs1491100221 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 15:43853899
(GRCh38)
15:44146097
(GRCh37)
- Canonical SPDI:
- NC_000015.10:43853897:TGT:T
- Gene:
- WDR76 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
-=0.0456/169
(TWINSUK)
-=0.0607/234
(ALSPAC)
- HGVS:
9.
rs1491057745 has merged into rs71299551 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTT>-,TTT,TTTT,TTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 15:43868802
(GRCh38)
15:44161000
(GRCh37)
- Canonical SPDI:
- NC_000015.10:43868792:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000015.10:43868792:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000015.10:43868792:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000015.10:43868792:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000015.10:43868792:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000015.10:43868792:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000015.10:43868792:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000015.10:43868792:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000015.10:43868792:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:43868792:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:43868792:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:43868792:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:43868792:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:43868792:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:43868792:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:43868792:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:43868792:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- WDR76 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
NC_000015.10:g.43868802_43868813del, NC_000015.10:g.43868805_43868813del, NC_000015.10:g.43868806_43868813del, NC_000015.10:g.43868807_43868813del, NC_000015.10:g.43868810_43868813del, NC_000015.10:g.43868811_43868813del, NC_000015.10:g.43868812_43868813del, NC_000015.10:g.43868813del, NC_000015.10:g.43868813dup, NC_000015.10:g.43868812_43868813dup, NC_000015.10:g.43868811_43868813dup, NC_000015.10:g.43868810_43868813dup, NC_000015.10:g.43868808_43868813dup, NC_000015.10:g.43868805_43868813dup, NC_000015.10:g.43868813_43868814insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.10:g.43868813_43868814insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.10:g.43868813_43868814insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.9:g.44161000_44161011del, NC_000015.9:g.44161003_44161011del, NC_000015.9:g.44161004_44161011del, NC_000015.9:g.44161005_44161011del, NC_000015.9:g.44161008_44161011del, NC_000015.9:g.44161009_44161011del, NC_000015.9:g.44161010_44161011del, NC_000015.9:g.44161011del, NC_000015.9:g.44161011dup, NC_000015.9:g.44161010_44161011dup, NC_000015.9:g.44161009_44161011dup, NC_000015.9:g.44161008_44161011dup, NC_000015.9:g.44161006_44161011dup, NC_000015.9:g.44161003_44161011dup, NC_000015.9:g.44161011_44161012insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.9:g.44161011_44161012insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.9:g.44161011_44161012insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
10.
rs1490808537 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 15:43864344
(GRCh38)
15:44156542
(GRCh37)
- Canonical SPDI:
- NC_000015.10:43864343:T:C
- Gene:
- WDR76 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
11.
rs1490775005 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 15:43850668
(GRCh38)
15:44142866
(GRCh37)
- Canonical SPDI:
- NC_000015.10:43850667:A:G
- Gene:
- WDR76 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000019/5
(TOPMED)
G=0.000021/3
(GnomAD)
- HGVS:
12.
rs1490756664 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 15:43866631
(GRCh38)
15:44158829
(GRCh37)
- Canonical SPDI:
- NC_000015.10:43866630:T:C
- Gene:
- WDR76 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
13.
rs1490695922 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 15:43837785
(GRCh38)
15:44129983
(GRCh37)
- Canonical SPDI:
- NC_000015.10:43837784:C:T
- Gene:
- WDR76 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
14.
rs1490633396 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- A>-
[Show Flanks]
- Chromosome:
- 15:43850867
(GRCh38)
15:44143065
(GRCh37)
- Canonical SPDI:
- NC_000015.10:43850866:AA:A
- Gene:
- WDR76 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
AA=0./0
(
ALFA)
-=0.000014/2
(GnomAD)
- HGVS:
15.
rs1490608530 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 15:43853903
(GRCh38)
15:44146101
(GRCh37)
- Canonical SPDI:
- NC_000015.10:43853902:C:A
- Gene:
- WDR76 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.01364/216
(
ALFA)
A=0.00263/44
(TOMMO)
A=0.10492/307
(KOREAN)
- HGVS:
16.
rs1490548661 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CTA>-
[Show Flanks]
- Chromosome:
- 15:43830660
(GRCh38)
15:44122858
(GRCh37)
- Canonical SPDI:
- NC_000015.10:43830659:CTA:
- Gene:
- WDR76 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
17.
rs1490495212 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 15:43837155
(GRCh38)
15:44129353
(GRCh37)
- Canonical SPDI:
- NC_000015.10:43837154:G:A
- Gene:
- WDR76 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000015/4
(TOPMED)
- HGVS:
18.
rs1490359182 has merged into rs972013972 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 15:43857830
(GRCh38)
15:44150028
(GRCh37)
- Canonical SPDI:
- NC_000015.10:43857820:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000015.10:43857820:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000015.10:43857820:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000015.10:43857820:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000015.10:43857820:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000015.10:43857820:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000015.10:43857820:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000015.10:43857820:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000015.10:43857820:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000015.10:43857820:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000015.10:43857820:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000015.10:43857820:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000015.10:43857820:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000015.10:43857820:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:43857820:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:43857820:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:43857820:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:43857820:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:43857820:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:43857820:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- WDR76 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000015.10:g.43857830_43857844del, NC_000015.10:g.43857831_43857844del, NC_000015.10:g.43857832_43857844del, NC_000015.10:g.43857833_43857844del, NC_000015.10:g.43857834_43857844del, NC_000015.10:g.43857835_43857844del, NC_000015.10:g.43857836_43857844del, NC_000015.10:g.43857837_43857844del, NC_000015.10:g.43857838_43857844del, NC_000015.10:g.43857839_43857844del, NC_000015.10:g.43857840_43857844del, NC_000015.10:g.43857841_43857844del, NC_000015.10:g.43857842_43857844del, NC_000015.10:g.43857843_43857844del, NC_000015.10:g.43857844del, NC_000015.10:g.43857844dup, NC_000015.10:g.43857843_43857844dup, NC_000015.10:g.43857842_43857844dup, NC_000015.10:g.43857841_43857844dup, NC_000015.10:g.43857839_43857844dup, NC_000015.9:g.44150028_44150042del, NC_000015.9:g.44150029_44150042del, NC_000015.9:g.44150030_44150042del, NC_000015.9:g.44150031_44150042del, NC_000015.9:g.44150032_44150042del, NC_000015.9:g.44150033_44150042del, NC_000015.9:g.44150034_44150042del, NC_000015.9:g.44150035_44150042del, NC_000015.9:g.44150036_44150042del, NC_000015.9:g.44150037_44150042del, NC_000015.9:g.44150038_44150042del, NC_000015.9:g.44150039_44150042del, NC_000015.9:g.44150040_44150042del, NC_000015.9:g.44150041_44150042del, NC_000015.9:g.44150042del, NC_000015.9:g.44150042dup, NC_000015.9:g.44150041_44150042dup, NC_000015.9:g.44150040_44150042dup, NC_000015.9:g.44150039_44150042dup, NC_000015.9:g.44150037_44150042dup
19.
rs1490334178 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 15:43855986
(GRCh38)
15:44148184
(GRCh37)
- Canonical SPDI:
- NC_000015.10:43855985:T:C
- Gene:
- WDR76 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000021/3
(GnomAD)
- HGVS:
20.
rs1490328665 has merged into rs535509405 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA
[Show Flanks]
- Chromosome:
- 15:43854960
(GRCh38)
15:44147158
(GRCh37)
- Canonical SPDI:
- NC_000015.10:43854950:AAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000015.10:43854950:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000015.10:43854950:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000015.10:43854950:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000015.10:43854950:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000015.10:43854950:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000015.10:43854950:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000015.10:43854950:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
- Gene:
- WDR76 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAA=0./0
(
ALFA)
-=0.000011/3
(TOPMED)
- HGVS:
NC_000015.10:g.43854960_43854966del, NC_000015.10:g.43854962_43854966del, NC_000015.10:g.43854963_43854966del, NC_000015.10:g.43854964_43854966del, NC_000015.10:g.43854965_43854966del, NC_000015.10:g.43854966del, NC_000015.10:g.43854966dup, NC_000015.10:g.43854965_43854966dup, NC_000015.9:g.44147158_44147164del, NC_000015.9:g.44147160_44147164del, NC_000015.9:g.44147161_44147164del, NC_000015.9:g.44147162_44147164del, NC_000015.9:g.44147163_44147164del, NC_000015.9:g.44147164del, NC_000015.9:g.44147164dup, NC_000015.9:g.44147163_44147164dup