Links from Gene
Items: 1 to 20 of 23648
1.
rs1491533744 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AG>-
[Show Flanks]
- Chromosome:
- 7:29822122
(GRCh38)
7:29861738
(GRCh37)
- Canonical SPDI:
- NC_000007.14:29822121:AG:
- Gene:
- WIPF3 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00033/5
(
ALFA)
-=0.000157/19
(GnomAD)
-=0.000546/9
(TOMMO)
- HGVS:
2.
rs1491520313 has merged into rs869296187 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAA>-,A,AA,AAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 7:29901835
(GRCh38)
7:29941451
(GRCh37)
- Canonical SPDI:
- NC_000007.14:29901825:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000007.14:29901825:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000007.14:29901825:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000007.14:29901825:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000007.14:29901825:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:29901825:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:29901825:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:29901825:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:29901825:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000007.14:29901825:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000007.14:29901825:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000007.14:29901825:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:29901825:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:29901825:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:29901825:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:29901825:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:29901825:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:29901825:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:29901825:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:29901825:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:29901825:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:29901825:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:29901825:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:29901825:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:29901825:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:29901825:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:29901825:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- WIPF3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAA=0./0
(
ALFA)
-=0.000019/5
(TOPMED)
AAAAAAA=0.007143/4
(NorthernSweden)
- HGVS:
NC_000007.14:g.29901835_29901849del, NC_000007.14:g.29901836_29901849del, NC_000007.14:g.29901837_29901849del, NC_000007.14:g.29901838_29901849del, NC_000007.14:g.29901840_29901849del, NC_000007.14:g.29901842_29901849del, NC_000007.14:g.29901843_29901849del, NC_000007.14:g.29901844_29901849del, NC_000007.14:g.29901845_29901849del, NC_000007.14:g.29901846_29901849del, NC_000007.14:g.29901847_29901849del, NC_000007.14:g.29901848_29901849del, NC_000007.14:g.29901849del, NC_000007.14:g.29901849dup, NC_000007.14:g.29901848_29901849dup, NC_000007.14:g.29901847_29901849dup, NC_000007.14:g.29901846_29901849dup, NC_000007.14:g.29901845_29901849dup, NC_000007.14:g.29901844_29901849dup, NC_000007.14:g.29901843_29901849dup, NC_000007.14:g.29901842_29901849dup, NC_000007.14:g.29901841_29901849dup, NC_000007.14:g.29901840_29901849dup, NC_000007.14:g.29901838_29901849dup, NC_000007.14:g.29901837_29901849dup, NC_000007.14:g.29901834_29901849dup, NC_000007.14:g.29901849_29901850insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.29941451_29941465del, NC_000007.13:g.29941452_29941465del, NC_000007.13:g.29941453_29941465del, NC_000007.13:g.29941454_29941465del, NC_000007.13:g.29941456_29941465del, NC_000007.13:g.29941458_29941465del, NC_000007.13:g.29941459_29941465del, NC_000007.13:g.29941460_29941465del, NC_000007.13:g.29941461_29941465del, NC_000007.13:g.29941462_29941465del, NC_000007.13:g.29941463_29941465del, NC_000007.13:g.29941464_29941465del, NC_000007.13:g.29941465del, NC_000007.13:g.29941465dup, NC_000007.13:g.29941464_29941465dup, NC_000007.13:g.29941463_29941465dup, NC_000007.13:g.29941462_29941465dup, NC_000007.13:g.29941461_29941465dup, NC_000007.13:g.29941460_29941465dup, NC_000007.13:g.29941459_29941465dup, NC_000007.13:g.29941458_29941465dup, NC_000007.13:g.29941457_29941465dup, NC_000007.13:g.29941456_29941465dup, NC_000007.13:g.29941454_29941465dup, NC_000007.13:g.29941453_29941465dup, NC_000007.13:g.29941450_29941465dup, NC_000007.13:g.29941465_29941466insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
3.
rs1491495273 has merged into rs1554345939 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CA>-,CACA,CACACA
[Show Flanks]
- Chromosome:
- 7:29868543
(GRCh38)
7:29908159
(GRCh37)
- Canonical SPDI:
- NC_000007.14:29868535:ACACACACA:ACACACA,NC_000007.14:29868535:ACACACACA:ACACACACACA,NC_000007.14:29868535:ACACACACA:ACACACACACACA
- Gene:
- WIPF3 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACACACACACA=0.00012/2
(
ALFA)
AC=0.00167/1
(NorthernSweden)
- HGVS:
4.
rs1491418295 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 7:29894918
(GRCh38)
7:29934535
(GRCh37)
- Canonical SPDI:
- NC_000007.14:29894918:G:GG
- Gene:
- WIPF3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GG=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.00002/2
(GnomAD)
- HGVS:
5.
Error occurred: cannot get document summary
6.
rs1491408673 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 7:29822122
(GRCh38)
7:29861739
(GRCh37)
- Canonical SPDI:
- NC_000007.14:29822122:G:GG
- Gene:
- WIPF3 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
GG=0./0
(
ALFA)
G=0.00128/45
(GnomAD)
- HGVS:
7.
rs1491406928 has merged into rs1161222562 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 7:29913357
(GRCh38)
7:29952973
(GRCh37)
- Canonical SPDI:
- NC_000007.14:29913345:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000007.14:29913345:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:29913345:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:29913345:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:29913345:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:29913345:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000007.14:29913345:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000007.14:29913345:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000007.14:29913345:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:29913345:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- WIPF3 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAA=0./0
(
ALFA)
- HGVS:
NC_000007.14:g.29913357_29913363del, NC_000007.14:g.29913360_29913363del, NC_000007.14:g.29913361_29913363del, NC_000007.14:g.29913362_29913363del, NC_000007.14:g.29913363del, NC_000007.14:g.29913363dup, NC_000007.14:g.29913362_29913363dup, NC_000007.14:g.29913361_29913363dup, NC_000007.14:g.29913360_29913363dup, NC_000007.14:g.29913358_29913363dup, NC_000007.13:g.29952973_29952979del, NC_000007.13:g.29952976_29952979del, NC_000007.13:g.29952977_29952979del, NC_000007.13:g.29952978_29952979del, NC_000007.13:g.29952979del, NC_000007.13:g.29952979dup, NC_000007.13:g.29952978_29952979dup, NC_000007.13:g.29952977_29952979dup, NC_000007.13:g.29952976_29952979dup, NC_000007.13:g.29952974_29952979dup
8.
rs1491398943 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CG>-
[Show Flanks]
- Chromosome:
- 7:29894788
(GRCh38)
7:29934404
(GRCh37)
- Canonical SPDI:
- NC_000007.14:29894787:CG:
- Gene:
- WIPF3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000625/4
(1000Genomes)
- HGVS:
10.
rs1491319666 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AG>-
[Show Flanks]
- Chromosome:
- 7:29888484
(GRCh38)
7:29928100
(GRCh37)
- Canonical SPDI:
- NC_000007.14:29888482:GAG:G
- Gene:
- WIPF3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
-=0.000073/10
(GnomAD)
- HGVS:
13.
rs1491184978 has merged into rs61693654 [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,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 7:29872810
(GRCh38)
7:29912426
(GRCh37)
- Canonical SPDI:
- NC_000007.14:29872798:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000007.14:29872798:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000007.14:29872798:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:29872798:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:29872798:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:29872798:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:29872798:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:29872798:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:29872798:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000007.14:29872798:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000007.14:29872798:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000007.14:29872798:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:29872798:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:29872798:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:29872798:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:29872798:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:29872798:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:29872798:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:29872798:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:29872798:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:29872798:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:29872798:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:29872798:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:29872798:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:29872798:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:29872798:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:29872798:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- WIPF3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000007.14:g.29872810_29872824del, NC_000007.14:g.29872811_29872824del, NC_000007.14:g.29872812_29872824del, NC_000007.14:g.29872813_29872824del, NC_000007.14:g.29872814_29872824del, NC_000007.14:g.29872815_29872824del, NC_000007.14:g.29872816_29872824del, NC_000007.14:g.29872817_29872824del, NC_000007.14:g.29872818_29872824del, NC_000007.14:g.29872819_29872824del, NC_000007.14:g.29872820_29872824del, NC_000007.14:g.29872821_29872824del, NC_000007.14:g.29872822_29872824del, NC_000007.14:g.29872823_29872824del, NC_000007.14:g.29872824del, NC_000007.14:g.29872824dup, NC_000007.14:g.29872823_29872824dup, NC_000007.14:g.29872822_29872824dup, NC_000007.14:g.29872821_29872824dup, NC_000007.14:g.29872820_29872824dup, NC_000007.14:g.29872819_29872824dup, NC_000007.14:g.29872818_29872824dup, NC_000007.14:g.29872817_29872824dup, NC_000007.14:g.29872816_29872824dup, NC_000007.14:g.29872815_29872824dup, NC_000007.14:g.29872814_29872824dup, NC_000007.14:g.29872812_29872824dup, NC_000007.13:g.29912426_29912440del, NC_000007.13:g.29912427_29912440del, NC_000007.13:g.29912428_29912440del, NC_000007.13:g.29912429_29912440del, NC_000007.13:g.29912430_29912440del, NC_000007.13:g.29912431_29912440del, NC_000007.13:g.29912432_29912440del, NC_000007.13:g.29912433_29912440del, NC_000007.13:g.29912434_29912440del, NC_000007.13:g.29912435_29912440del, NC_000007.13:g.29912436_29912440del, NC_000007.13:g.29912437_29912440del, NC_000007.13:g.29912438_29912440del, NC_000007.13:g.29912439_29912440del, NC_000007.13:g.29912440del, NC_000007.13:g.29912440dup, NC_000007.13:g.29912439_29912440dup, NC_000007.13:g.29912438_29912440dup, NC_000007.13:g.29912437_29912440dup, NC_000007.13:g.29912436_29912440dup, NC_000007.13:g.29912435_29912440dup, NC_000007.13:g.29912434_29912440dup, NC_000007.13:g.29912433_29912440dup, NC_000007.13:g.29912432_29912440dup, NC_000007.13:g.29912431_29912440dup, NC_000007.13:g.29912430_29912440dup, NC_000007.13:g.29912428_29912440dup
14.
rs1491177733 has merged into rs60160111 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTT>-,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT
[Show Flanks]
- Chromosome:
- 7:29894924
(GRCh38)
7:29934540
(GRCh37)
- Canonical SPDI:
- NC_000007.14:29894919:TTTTTTTTT:TTTT,NC_000007.14:29894919:TTTTTTTTT:TTTTTTT,NC_000007.14:29894919:TTTTTTTTT:TTTTTTTT,NC_000007.14:29894919:TTTTTTTTT:TTTTTTTTTT,NC_000007.14:29894919:TTTTTTTTT:TTTTTTTTTTT,NC_000007.14:29894919:TTTTTTTTT:TTTTTTTTTTTT,NC_000007.14:29894919:TTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:29894919:TTTTTTTTT:TTTTTTTTTTTTTT
- Gene:
- WIPF3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000007.14:g.29894924_29894928del, NC_000007.14:g.29894927_29894928del, NC_000007.14:g.29894928del, NC_000007.14:g.29894928dup, NC_000007.14:g.29894927_29894928dup, NC_000007.14:g.29894926_29894928dup, NC_000007.14:g.29894925_29894928dup, NC_000007.14:g.29894924_29894928dup, NC_000007.13:g.29934540_29934544del, NC_000007.13:g.29934543_29934544del, NC_000007.13:g.29934544del, NC_000007.13:g.29934544dup, NC_000007.13:g.29934543_29934544dup, NC_000007.13:g.29934542_29934544dup, NC_000007.13:g.29934541_29934544dup, NC_000007.13:g.29934540_29934544dup
15.
rs1491163870 has merged into rs1170522671 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GT>-,GTGT
[Show Flanks]
- Chromosome:
- 7:29894919
(GRCh38)
7:29934535
(GRCh37)
- Canonical SPDI:
- NC_000007.14:29894917:TGT:T,NC_000007.14:29894917:TGT:TGTGT
- Gene:
- WIPF3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGT=0./0
(
ALFA)
TG=0.000004/1
(TOPMED)
TG=0.00001/1
(GnomAD)
- HGVS:
16.
rs1491065505 has merged into rs3216983 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAA>-,AAAA,AAAAA,AAAAAAA,AAAAAAAA
[Show Flanks]
- Chromosome:
- 7:29893082
(GRCh38)
7:29932698
(GRCh37)
- Canonical SPDI:
- NC_000007.14:29893077:AAAAAAAAAA:AAAA,NC_000007.14:29893077:AAAAAAAAAA:AAAAAAAA,NC_000007.14:29893077:AAAAAAAAAA:AAAAAAAAA,NC_000007.14:29893077:AAAAAAAAAA:AAAAAAAAAAA,NC_000007.14:29893077:AAAAAAAAAA:AAAAAAAAAAAA
- Gene:
- WIPF3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAA=0./0
(
ALFA)
-=0.037/179
(1000Genomes)
-=0.08024/147
(Korea1K)
- HGVS:
17.
rs1490963014 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 7:29891145
(GRCh38)
7:29930761
(GRCh37)
- Canonical SPDI:
- NC_000007.14:29891144:G:A,NC_000007.14:29891144:G:C
- Gene:
- WIPF3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.00025/4
(TOMMO)
A=0.02526/73
(KOREAN)
- HGVS:
18.
rs1490914286 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 7:29818727
(GRCh38)
7:29858343
(GRCh37)
- Canonical SPDI:
- NC_000007.14:29818726:G:A,NC_000007.14:29818726:G:C
- Gene:
- WIPF3 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
19.
rs1490896179 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 7:29892069
(GRCh38)
7:29931685
(GRCh37)
- Canonical SPDI:
- NC_000007.14:29892068:T:C
- Gene:
- WIPF3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
20.
rs1490890622 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 7:29834747
(GRCh38)
7:29874363
(GRCh37)
- Canonical SPDI:
- NC_000007.14:29834746:C:T
- Gene:
- WIPF3 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS: