Links from Gene
Items: 1 to 20 of 11103
1.
rs1491412193 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TG>-
[Show Flanks]
- Chromosome:
- 4:118605202
(GRCh38)
4:119526357
(GRCh37)
- Canonical SPDI:
- NC_000004.12:118605201:TG:
- Gene:
- LOC729218 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.000337/4
(
ALFA)
-=0.000035/1
(TOMMO)
-=0.000405/45
(GnomAD)
- HGVS:
2.
rs1491364112 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->CT
[Show Flanks]
- Chromosome:
- 4:118625035
(GRCh38)
4:119546191
(GRCh37)
- Canonical SPDI:
- NC_000004.12:118625035::CT
- Gene:
- LOC729218 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
CT=0.00064/11
(TOMMO)
CT=0.00109/2
(Korea1K)
- HGVS:
3.
rs1491328305 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-
[Show Flanks]
- Chromosome:
- 4:118625037
(GRCh38)
4:119546192
(GRCh37)
- Canonical SPDI:
- NC_000004.12:118625034:AAAA:AA
- Gene:
- LOC729218 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAA=0.00067/3
(
ALFA)
-=0.00018/3
(TOMMO)
-=0.00055/1
(Korea1K)
- HGVS:
5.
rs1491250403 has merged into rs778847413 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTT>-,T,TT,TTTT,TTTTT
[Show Flanks]
- Chromosome:
- 4:118594801
(GRCh38)
4:119515956
(GRCh37)
- Canonical SPDI:
- NC_000004.12:118594791:TTTTTTTTTTTT:TTTTTTTTT,NC_000004.12:118594791:TTTTTTTTTTTT:TTTTTTTTTT,NC_000004.12:118594791:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000004.12:118594791:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000004.12:118594791:TTTTTTTTTTTT:TTTTTTTTTTTTTT
- Gene:
- LOC729218 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTT=0./0
(
ALFA)
-=0.00061/17
(TOMMO)
-=0.1/4
(GENOME_DK)
- HGVS:
6.
rs1491234285 has merged into rs541275456 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 4:118591600
(GRCh38)
4:119512755
(GRCh37)
- Canonical SPDI:
- NC_000004.12:118591590:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000004.12:118591590:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000004.12:118591590:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000004.12:118591590:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000004.12:118591590:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000004.12:118591590:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000004.12:118591590:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000004.12:118591590:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000004.12:118591590:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000004.12:118591590:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000004.12:118591590:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000004.12:118591590:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000004.12:118591590:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:118591590:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:118591590:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:118591590:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:118591590:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:118591590:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:118591590:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:118591590:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:118591590:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:118591590:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:118591590:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:118591590:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:118591590:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- LOC729218 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTT=0./0
(
ALFA)
-=0.01211/7
(NorthernSweden)
- HGVS:
NC_000004.12:g.118591600_118591618del, NC_000004.12:g.118591602_118591618del, NC_000004.12:g.118591603_118591618del, NC_000004.12:g.118591604_118591618del, NC_000004.12:g.118591605_118591618del, NC_000004.12:g.118591606_118591618del, NC_000004.12:g.118591607_118591618del, NC_000004.12:g.118591608_118591618del, NC_000004.12:g.118591609_118591618del, NC_000004.12:g.118591610_118591618del, NC_000004.12:g.118591611_118591618del, NC_000004.12:g.118591612_118591618del, NC_000004.12:g.118591613_118591618del, NC_000004.12:g.118591614_118591618del, NC_000004.12:g.118591615_118591618del, NC_000004.12:g.118591616_118591618del, NC_000004.12:g.118591617_118591618del, NC_000004.12:g.118591618del, NC_000004.12:g.118591618dup, NC_000004.12:g.118591617_118591618dup, NC_000004.12:g.118591616_118591618dup, NC_000004.12:g.118591615_118591618dup, NC_000004.12:g.118591614_118591618dup, NC_000004.12:g.118591613_118591618dup, NC_000004.12:g.118591612_118591618dup, NC_000004.11:g.119512755_119512773del, NC_000004.11:g.119512757_119512773del, NC_000004.11:g.119512758_119512773del, NC_000004.11:g.119512759_119512773del, NC_000004.11:g.119512760_119512773del, NC_000004.11:g.119512761_119512773del, NC_000004.11:g.119512762_119512773del, NC_000004.11:g.119512763_119512773del, NC_000004.11:g.119512764_119512773del, NC_000004.11:g.119512765_119512773del, NC_000004.11:g.119512766_119512773del, NC_000004.11:g.119512767_119512773del, NC_000004.11:g.119512768_119512773del, NC_000004.11:g.119512769_119512773del, NC_000004.11:g.119512770_119512773del, NC_000004.11:g.119512771_119512773del, NC_000004.11:g.119512772_119512773del, NC_000004.11:g.119512773del, NC_000004.11:g.119512773dup, NC_000004.11:g.119512772_119512773dup, NC_000004.11:g.119512771_119512773dup, NC_000004.11:g.119512770_119512773dup, NC_000004.11:g.119512769_119512773dup, NC_000004.11:g.119512768_119512773dup, NC_000004.11:g.119512767_119512773dup
7.
rs1491226977 has merged into rs70941186 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GG>-,G,GGG,GGGG,GGGGG,GGGGGG
[Show Flanks]
- Chromosome:
- 4:118592393
(GRCh38)
4:119513548
(GRCh37)
- Canonical SPDI:
- NC_000004.12:118592383:GGGGGGGGGGG:GGGGGGGGG,NC_000004.12:118592383:GGGGGGGGGGG:GGGGGGGGGG,NC_000004.12:118592383:GGGGGGGGGGG:GGGGGGGGGGGG,NC_000004.12:118592383:GGGGGGGGGGG:GGGGGGGGGGGGG,NC_000004.12:118592383:GGGGGGGGGGG:GGGGGGGGGGGGGG,NC_000004.12:118592383:GGGGGGGGGGG:GGGGGGGGGGGGGGG
- Gene:
- LOC729218 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGGGGGGGGGGGG=0./0
(
ALFA)
-=0.3921/229
(NorthernSweden)
-=0.45/18
(GENOME_DK)
- HGVS:
NC_000004.12:g.118592393_118592394del, NC_000004.12:g.118592394del, NC_000004.12:g.118592394dup, NC_000004.12:g.118592393_118592394dup, NC_000004.12:g.118592392_118592394dup, NC_000004.12:g.118592391_118592394dup, NC_000004.11:g.119513548_119513549del, NC_000004.11:g.119513549del, NC_000004.11:g.119513549dup, NC_000004.11:g.119513548_119513549dup, NC_000004.11:g.119513547_119513549dup, NC_000004.11:g.119513546_119513549dup
8.
rs1491221537 has merged into rs1173485989 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 4:118613010
(GRCh38)
4:119534165
(GRCh37)
- Canonical SPDI:
- NC_000004.12:118612999:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000004.12:118612999:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:118612999:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:118612999:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:118612999:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:118612999:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:118612999:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000004.12:118612999:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000004.12:118612999:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:118612999:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:118612999:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:118612999:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:118612999:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:118612999:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:118612999:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:118612999:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:118612999:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:118612999:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:118612999:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:118612999:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:118612999:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- LOC729218 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAA=0./0
(
ALFA)
AAAAAAA=0.00336/2
(NorthernSweden)
- HGVS:
NC_000004.12:g.118613010_118613025del, NC_000004.12:g.118613013_118613025del, NC_000004.12:g.118613014_118613025del, NC_000004.12:g.118613015_118613025del, NC_000004.12:g.118613016_118613025del, NC_000004.12:g.118613018_118613025del, NC_000004.12:g.118613019_118613025del, NC_000004.12:g.118613020_118613025del, NC_000004.12:g.118613022_118613025del, NC_000004.12:g.118613023_118613025del, NC_000004.12:g.118613024_118613025del, NC_000004.12:g.118613025del, NC_000004.12:g.118613025dup, NC_000004.12:g.118613024_118613025dup, NC_000004.12:g.118613023_118613025dup, NC_000004.12:g.118613022_118613025dup, NC_000004.12:g.118613021_118613025dup, NC_000004.12:g.118613020_118613025dup, NC_000004.12:g.118613019_118613025dup, NC_000004.12:g.118613018_118613025dup, NC_000004.12:g.118613016_118613025dup, NC_000004.11:g.119534165_119534180del, NC_000004.11:g.119534168_119534180del, NC_000004.11:g.119534169_119534180del, NC_000004.11:g.119534170_119534180del, NC_000004.11:g.119534171_119534180del, NC_000004.11:g.119534173_119534180del, NC_000004.11:g.119534174_119534180del, NC_000004.11:g.119534175_119534180del, NC_000004.11:g.119534177_119534180del, NC_000004.11:g.119534178_119534180del, NC_000004.11:g.119534179_119534180del, NC_000004.11:g.119534180del, NC_000004.11:g.119534180dup, NC_000004.11:g.119534179_119534180dup, NC_000004.11:g.119534178_119534180dup, NC_000004.11:g.119534177_119534180dup, NC_000004.11:g.119534176_119534180dup, NC_000004.11:g.119534175_119534180dup, NC_000004.11:g.119534174_119534180dup, NC_000004.11:g.119534173_119534180dup, NC_000004.11:g.119534171_119534180dup
10.
rs1491171741 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 4:118594792
(GRCh38)
4:119515948
(GRCh37)
- Canonical SPDI:
- NC_000004.12:118594792::C
- Gene:
- LOC729218 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
11.
rs1491169510 has merged into rs377539721 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AGAGAGAGAGAGAGAGAG>-,AG,AGAG,AGAGAG,AGAGAGAG,AGAGAGAGAG,AGAGAGAGAGAG,AGAGAGAGAGAGAG,AGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG
[Show Flanks]
- Chromosome:
- 4:118605218
(GRCh38)
4:119526373
(GRCh37)
- Canonical SPDI:
- NC_000004.12:118605202:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:GAGAGAGAGAGAGAG,NC_000004.12:118605202:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:GAGAGAGAGAGAGAGAG,NC_000004.12:118605202:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:GAGAGAGAGAGAGAGAGAG,NC_000004.12:118605202:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:GAGAGAGAGAGAGAGAGAGAG,NC_000004.12:118605202:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:GAGAGAGAGAGAGAGAGAGAGAG,NC_000004.12:118605202:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:GAGAGAGAGAGAGAGAGAGAGAGAG,NC_000004.12:118605202:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:GAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000004.12:118605202:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:GAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000004.12:118605202:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000004.12:118605202:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000004.12:118605202:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000004.12:118605202:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000004.12:118605202:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000004.12:118605202:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000004.12:118605202:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000004.12:118605202:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG
- Gene:
- LOC729218 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GAGAGAGAGAGAGAGAG=0./0
(
ALFA)
- HGVS:
NC_000004.12:g.118605204AG[7], NC_000004.12:g.118605204AG[8], NC_000004.12:g.118605204AG[9], NC_000004.12:g.118605204AG[10], NC_000004.12:g.118605204AG[11], NC_000004.12:g.118605204AG[12], NC_000004.12:g.118605204AG[13], NC_000004.12:g.118605204AG[14], NC_000004.12:g.118605204AG[15], NC_000004.12:g.118605204AG[17], NC_000004.12:g.118605204AG[18], NC_000004.12:g.118605204AG[19], NC_000004.12:g.118605204AG[20], NC_000004.12:g.118605204AG[21], NC_000004.12:g.118605204AG[22], NC_000004.12:g.118605204AG[23], NC_000004.11:g.119526359AG[7], NC_000004.11:g.119526359AG[8], NC_000004.11:g.119526359AG[9], NC_000004.11:g.119526359AG[10], NC_000004.11:g.119526359AG[11], NC_000004.11:g.119526359AG[12], NC_000004.11:g.119526359AG[13], NC_000004.11:g.119526359AG[14], NC_000004.11:g.119526359AG[15], NC_000004.11:g.119526359AG[17], NC_000004.11:g.119526359AG[18], NC_000004.11:g.119526359AG[19], NC_000004.11:g.119526359AG[20], NC_000004.11:g.119526359AG[21], NC_000004.11:g.119526359AG[22], NC_000004.11:g.119526359AG[23]
12.
rs1491151455 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TG
[Show Flanks]
- Chromosome:
- 4:118592384
(GRCh38)
4:119513540
(GRCh37)
- Canonical SPDI:
- NC_000004.12:118592384:G:GTG
- Gene:
- LOC729218 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
GTG=0./0
(
ALFA)
GT=0.00006/3
(GnomAD)
- HGVS:
13.
rs1491122792 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->TTTATTAATAATAA
[Show Flanks]
- Chromosome:
- 4:118595821
(GRCh38)
4:119516977
(GRCh37)
- Canonical SPDI:
- NC_000004.12:118595821::TTTATTAATAATAA
- Gene:
- LOC729218 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
TTTATTAATAATAA=0.0004/2
(
ALFA)
- HGVS:
14.
rs1490956744 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 4:118610454
(GRCh38)
4:119531609
(GRCh37)
- Canonical SPDI:
- NC_000004.12:118610453:A:G
- Gene:
- LOC729218 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
- HGVS:
15.
rs1490933226 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 4:118623472
(GRCh38)
4:119544627
(GRCh37)
- Canonical SPDI:
- NC_000004.12:118623471:A:G
- Gene:
- LOC729218 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
16.
rs1490907927 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 4:118624325
(GRCh38)
4:119545480
(GRCh37)
- Canonical SPDI:
- NC_000004.12:118624324:A:G
- Gene:
- LOC729218 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000026/3
(GnomAD)
- HGVS:
17.
rs1490887137 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 4:118619214
(GRCh38)
4:119540369
(GRCh37)
- Canonical SPDI:
- NC_000004.12:118619213:C:A
- Gene:
- LOC729218 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
18.
rs1490859437 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 4:118592078
(GRCh38)
4:119513233
(GRCh37)
- Canonical SPDI:
- NC_000004.12:118592077:G:A,NC_000004.12:118592077:G:T
- Gene:
- LOC729218 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000671/3
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000312/2
(1000Genomes)
A=0.000597/10
(TOMMO)
A=0.038014/111
(KOREAN)
- HGVS:
19.
rs1490834316 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 4:118633573
(GRCh38)
4:119554728
(GRCh37)
- Canonical SPDI:
- NC_000004.12:118633572:G:A
- Gene:
- LOC729218 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000021/3
(GnomAD)
A=0.000023/6
(TOPMED)
- HGVS:
20.
rs1490786151 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 4:118604491
(GRCh38)
4:119525646
(GRCh37)
- Canonical SPDI:
- NC_000004.12:118604490:C:T
- Gene:
- LOC729218 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000312/2
(1000Genomes)
- HGVS: