Links from Gene
Items: 1 to 20 of 78456
1.
rs1491589493 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 15:93445498
(GRCh38)
15:93988727
(GRCh37)
- Canonical SPDI:
- NC_000015.10:93445496:AGA:A
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
-=0.000011/3
(TOPMED)
-=0.000014/2
(GnomAD)
- HGVS:
2.
rs1491585273 has merged into rs35949815 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 15:93343569
(GRCh38)
15:93886798
(GRCh37)
- Canonical SPDI:
- NC_000015.10:93343561:AAAAAAAAAAAAAAAAAAAA:AAAAAAA,NC_000015.10:93343561:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000015.10:93343561:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000015.10:93343561:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000015.10:93343561:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000015.10:93343561:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000015.10:93343561:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000015.10:93343561:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000015.10:93343561:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000015.10:93343561:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000015.10:93343561:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:93343561:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:93343561:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:93343561:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:93343561:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:93343561:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:93343561:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- LOC105370982 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAA=0./0
(
ALFA)
AAAAAAAAAAAAA=0.025/1
(GENOME_DK)
AAAAAAAAAA=0.352/1763
(1000Genomes)
- HGVS:
NC_000015.10:g.93343569_93343581del, NC_000015.10:g.93343572_93343581del, NC_000015.10:g.93343573_93343581del, NC_000015.10:g.93343574_93343581del, NC_000015.10:g.93343577_93343581del, NC_000015.10:g.93343578_93343581del, NC_000015.10:g.93343579_93343581del, NC_000015.10:g.93343580_93343581del, NC_000015.10:g.93343581del, NC_000015.10:g.93343581dup, NC_000015.10:g.93343580_93343581dup, NC_000015.10:g.93343579_93343581dup, NC_000015.10:g.93343578_93343581dup, NC_000015.10:g.93343577_93343581dup, NC_000015.10:g.93343576_93343581dup, NC_000015.10:g.93343574_93343581dup, NC_000015.10:g.93343571_93343581dup, NC_000015.9:g.93886798_93886810del, NC_000015.9:g.93886801_93886810del, NC_000015.9:g.93886802_93886810del, NC_000015.9:g.93886803_93886810del, NC_000015.9:g.93886806_93886810del, NC_000015.9:g.93886807_93886810del, NC_000015.9:g.93886808_93886810del, NC_000015.9:g.93886809_93886810del, NC_000015.9:g.93886810del, NC_000015.9:g.93886810dup, NC_000015.9:g.93886809_93886810dup, NC_000015.9:g.93886808_93886810dup, NC_000015.9:g.93886807_93886810dup, NC_000015.9:g.93886806_93886810dup, NC_000015.9:g.93886805_93886810dup, NC_000015.9:g.93886803_93886810dup, NC_000015.9:g.93886800_93886810dup
3.
rs1491583767 has merged into rs71132934 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 15:93321046
(GRCh38)
15:93864275
(GRCh37)
- Canonical SPDI:
- NC_000015.10:93321033:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000015.10:93321033:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000015.10:93321033:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000015.10:93321033:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000015.10:93321033:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000015.10:93321033:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000015.10:93321033:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000015.10:93321033:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000015.10:93321033:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000015.10:93321033:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000015.10:93321033:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:93321033:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:93321033:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:93321033:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:93321033:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:93321033:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:93321033:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:93321033:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:93321033:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:93321033:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- LOC105370982 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000015.10:g.93321046_93321058del, NC_000015.10:g.93321047_93321058del, NC_000015.10:g.93321048_93321058del, NC_000015.10:g.93321049_93321058del, NC_000015.10:g.93321050_93321058del, NC_000015.10:g.93321051_93321058del, NC_000015.10:g.93321052_93321058del, NC_000015.10:g.93321053_93321058del, NC_000015.10:g.93321054_93321058del, NC_000015.10:g.93321055_93321058del, NC_000015.10:g.93321056_93321058del, NC_000015.10:g.93321057_93321058del, NC_000015.10:g.93321058del, NC_000015.10:g.93321058dup, NC_000015.10:g.93321057_93321058dup, NC_000015.10:g.93321056_93321058dup, NC_000015.10:g.93321055_93321058dup, NC_000015.10:g.93321054_93321058dup, NC_000015.10:g.93321053_93321058dup, NC_000015.10:g.93321052_93321058dup, NC_000015.9:g.93864275_93864287del, NC_000015.9:g.93864276_93864287del, NC_000015.9:g.93864277_93864287del, NC_000015.9:g.93864278_93864287del, NC_000015.9:g.93864279_93864287del, NC_000015.9:g.93864280_93864287del, NC_000015.9:g.93864281_93864287del, NC_000015.9:g.93864282_93864287del, NC_000015.9:g.93864283_93864287del, NC_000015.9:g.93864284_93864287del, NC_000015.9:g.93864285_93864287del, NC_000015.9:g.93864286_93864287del, NC_000015.9:g.93864287del, NC_000015.9:g.93864287dup, NC_000015.9:g.93864286_93864287dup, NC_000015.9:g.93864285_93864287dup, NC_000015.9:g.93864284_93864287dup, NC_000015.9:g.93864283_93864287dup, NC_000015.9:g.93864282_93864287dup, NC_000015.9:g.93864281_93864287dup
4.
rs1491579960 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GTGTGT
[Show Flanks]
- Chromosome:
- 15:93453971
(GRCh38)
15:93997201
(GRCh37)
- Canonical SPDI:
- NC_000015.10:93453971:T:TGTGTGT
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGTGT=0./0
(
ALFA)
TGTGTG=0.00008/4
(GnomAD)
- HGVS:
5.
rs1491561622 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 15:93383945
(GRCh38)
15:93927174
(GRCh37)
- Canonical SPDI:
- NC_000015.10:93383944:CA:
- Gene:
- LOC105370982 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00961/114
(
ALFA)
-=0.00106/30
(TOMMO)
- HGVS:
6.
rs1491556946 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AC
[Show Flanks]
- Chromosome:
- 15:93539120
(GRCh38)
15:94082350
(GRCh37)
- Canonical SPDI:
- NC_000015.10:93539120:C:CAC
- Validated:
- by frequency,by alfa
- MAF:
CAC=0./0
(
ALFA)
CA=0.00003/2
(GnomAD)
- HGVS:
7.
rs1491547765 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TC>-
[Show Flanks]
- Chromosome:
- 15:93232978
(GRCh38)
15:93776207
(GRCh37)
- Canonical SPDI:
- NC_000015.10:93232977:TC:
- Gene:
- LOC105370982 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00244/29
(
ALFA)
-=0.00007/1
(TOMMO)
-=0.00415/383
(GnomAD)
- HGVS:
8.
rs1491544842 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AC>-
[Show Flanks]
- Chromosome:
- 15:93468966
(GRCh38)
15:94012195
(GRCh37)
- Canonical SPDI:
- NC_000015.10:93468964:CAC:C
- Validated:
- by frequency,by cluster
- MAF:
-=0.0143/55
(ALSPAC)
-=0.0167/62
(TWINSUK)
- HGVS:
9.
rs1491538457 has merged into rs376472942 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 15:93346897
(GRCh38)
15:93890126
(GRCh37)
- Canonical SPDI:
- NC_000015.10:93346895:TGT:T
- Gene:
- LOC105370982 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.001423/20
(
ALFA)
-=0.000319/3
(TOMMO)
-=0.002157/571
(TOPMED)
-=0.002498/16
(1000Genomes)
-=0.004919/263
(GnomAD)
-=0.011968/18
(Korea1K)
TG=0.317635/317
(GoNL)
- HGVS:
10.
rs1491535096 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 15:93232978
(GRCh38)
15:93776208
(GRCh37)
- Canonical SPDI:
- NC_000015.10:93232978:C:CC
- Gene:
- LOC105370982 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CC=0./0
(
ALFA)
C=0.00044/40
(GnomAD)
- HGVS:
12.
rs1491531839 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 15:93472991
(GRCh38)
15:94016220
(GRCh37)
- Canonical SPDI:
- NC_000015.10:93472990:CA:
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.02976/353
(
ALFA)
-=0.00404/112
(TOMMO)
- HGVS:
13.
rs1491522285 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GA
[Show Flanks]
- Chromosome:
- 15:93329960
(GRCh38)
15:93873190
(GRCh37)
- Canonical SPDI:
- NC_000015.10:93329960:GA:GAGA
- Gene:
- LOC105370982 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
GAGA=0./0
(
ALFA)
GA=0.000004/1
(TOPMED)
- HGVS:
14.
rs1491505336 has merged into rs750675447 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TGTGTGTGTGTGTGTGTGTGTGTG>-,TG,TGTG,TGTGTG,TGTGTGTG,TGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTGTG,TGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
[Show Flanks]
- Chromosome:
- 15:93438076
(GRCh38)
15:93981305
(GRCh37)
- Canonical SPDI:
- NC_000015.10:93438054:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTG,NC_000015.10:93438054:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTG,NC_000015.10:93438054:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTG,NC_000015.10:93438054:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000015.10:93438054:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000015.10:93438054:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000015.10:93438054:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000015.10:93438054:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000015.10:93438054:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000015.10:93438054:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000015.10:93438054:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000015.10:93438054:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000015.10:93438054:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000015.10:93438054:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000015.10:93438054:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000015.10:93438054:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000015.10:93438054:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000015.10:93438054:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000015.10:93438054:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000015.10:93438054:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GTGTGTGTGTGTGTGTGTGTGTG=0./0
(
ALFA)
- HGVS:
NC_000015.10:g.93438056TG[10], NC_000015.10:g.93438056TG[11], NC_000015.10:g.93438056TG[12], NC_000015.10:g.93438056TG[13], NC_000015.10:g.93438056TG[14], NC_000015.10:g.93438056TG[15], NC_000015.10:g.93438056TG[16], NC_000015.10:g.93438056TG[17], NC_000015.10:g.93438056TG[18], NC_000015.10:g.93438056TG[19], NC_000015.10:g.93438056TG[20], NC_000015.10:g.93438056TG[21], NC_000015.10:g.93438056TG[23], NC_000015.10:g.93438056TG[24], NC_000015.10:g.93438056TG[25], NC_000015.10:g.93438056TG[26], NC_000015.10:g.93438056TG[27], NC_000015.10:g.93438056TG[28], NC_000015.10:g.93438056TG[29], NC_000015.10:g.93438056TG[30], NC_000015.9:g.93981285TG[10], NC_000015.9:g.93981285TG[11], NC_000015.9:g.93981285TG[12], NC_000015.9:g.93981285TG[13], NC_000015.9:g.93981285TG[14], NC_000015.9:g.93981285TG[15], NC_000015.9:g.93981285TG[16], NC_000015.9:g.93981285TG[17], NC_000015.9:g.93981285TG[18], NC_000015.9:g.93981285TG[19], NC_000015.9:g.93981285TG[20], NC_000015.9:g.93981285TG[21], NC_000015.9:g.93981285TG[23], NC_000015.9:g.93981285TG[24], NC_000015.9:g.93981285TG[25], NC_000015.9:g.93981285TG[26], NC_000015.9:g.93981285TG[27], NC_000015.9:g.93981285TG[28], NC_000015.9:g.93981285TG[29], NC_000015.9:g.93981285TG[30]
15.
rs1491502946 has merged into rs5814582 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 15:93383957
(GRCh38)
15:93927186
(GRCh37)
- Canonical SPDI:
- NC_000015.10:93383945:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000015.10:93383945:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000015.10:93383945:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000015.10:93383945:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000015.10:93383945:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000015.10:93383945:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000015.10:93383945:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000015.10:93383945:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000015.10:93383945:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000015.10:93383945:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:93383945:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:93383945:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:93383945:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:93383945:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:93383945:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:93383945:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:93383945:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- LOC105370982 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAA=0./0
(
ALFA)
-=0.3826/1916
(1000Genomes)
- HGVS:
NC_000015.10:g.93383957_93383969del, NC_000015.10:g.93383960_93383969del, NC_000015.10:g.93383961_93383969del, NC_000015.10:g.93383962_93383969del, NC_000015.10:g.93383963_93383969del, NC_000015.10:g.93383964_93383969del, NC_000015.10:g.93383965_93383969del, NC_000015.10:g.93383966_93383969del, NC_000015.10:g.93383967_93383969del, NC_000015.10:g.93383968_93383969del, NC_000015.10:g.93383969del, NC_000015.10:g.93383969dup, NC_000015.10:g.93383968_93383969dup, NC_000015.10:g.93383967_93383969dup, NC_000015.10:g.93383966_93383969dup, NC_000015.10:g.93383965_93383969dup, NC_000015.10:g.93383964_93383969dup, NC_000015.9:g.93927186_93927198del, NC_000015.9:g.93927189_93927198del, NC_000015.9:g.93927190_93927198del, NC_000015.9:g.93927191_93927198del, NC_000015.9:g.93927192_93927198del, NC_000015.9:g.93927193_93927198del, NC_000015.9:g.93927194_93927198del, NC_000015.9:g.93927195_93927198del, NC_000015.9:g.93927196_93927198del, NC_000015.9:g.93927197_93927198del, NC_000015.9:g.93927198del, NC_000015.9:g.93927198dup, NC_000015.9:g.93927197_93927198dup, NC_000015.9:g.93927196_93927198dup, NC_000015.9:g.93927195_93927198dup, NC_000015.9:g.93927194_93927198dup, NC_000015.9:g.93927193_93927198dup
16.
rs1491502693 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 15:93242687
(GRCh38)
15:93785916
(GRCh37)
- Canonical SPDI:
- NC_000015.10:93242686:AT:
- Gene:
- LOC105370982 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00008/1
(
ALFA)
-=0.00012/5
(GnomAD)
-=0.00131/18
(TOMMO)
- HGVS:
17.
rs1491502450 has merged into rs35754003 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 15:93464171
(GRCh38)
15:94007400
(GRCh37)
- Canonical SPDI:
- NC_000015.10:93464159:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000015.10:93464159:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000015.10:93464159:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000015.10:93464159:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000015.10:93464159:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000015.10:93464159:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000015.10:93464159:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000015.10:93464159:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000015.10:93464159:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000015.10:93464159:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:93464159:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:93464159:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:93464159:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:93464159:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:93464159:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:93464159:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:93464159:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:93464159:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:93464159:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:93464159:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.4533/2270
(1000Genomes)
- HGVS:
NC_000015.10:g.93464171_93464181del, NC_000015.10:g.93464174_93464181del, NC_000015.10:g.93464175_93464181del, NC_000015.10:g.93464176_93464181del, NC_000015.10:g.93464177_93464181del, NC_000015.10:g.93464178_93464181del, NC_000015.10:g.93464179_93464181del, NC_000015.10:g.93464180_93464181del, NC_000015.10:g.93464181del, NC_000015.10:g.93464181dup, NC_000015.10:g.93464180_93464181dup, NC_000015.10:g.93464179_93464181dup, NC_000015.10:g.93464178_93464181dup, NC_000015.10:g.93464177_93464181dup, NC_000015.10:g.93464176_93464181dup, NC_000015.10:g.93464175_93464181dup, NC_000015.10:g.93464174_93464181dup, NC_000015.10:g.93464173_93464181dup, NC_000015.10:g.93464172_93464181dup, NC_000015.10:g.93464181_93464182insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.9:g.94007400_94007410del, NC_000015.9:g.94007403_94007410del, NC_000015.9:g.94007404_94007410del, NC_000015.9:g.94007405_94007410del, NC_000015.9:g.94007406_94007410del, NC_000015.9:g.94007407_94007410del, NC_000015.9:g.94007408_94007410del, NC_000015.9:g.94007409_94007410del, NC_000015.9:g.94007410del, NC_000015.9:g.94007410dup, NC_000015.9:g.94007409_94007410dup, NC_000015.9:g.94007408_94007410dup, NC_000015.9:g.94007407_94007410dup, NC_000015.9:g.94007406_94007410dup, NC_000015.9:g.94007405_94007410dup, NC_000015.9:g.94007404_94007410dup, NC_000015.9:g.94007403_94007410dup, NC_000015.9:g.94007402_94007410dup, NC_000015.9:g.94007401_94007410dup, NC_000015.9:g.94007410_94007411insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
18.
rs1491497620 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->ACGC
[Show Flanks]
- Chromosome:
- 15:93419570
(GRCh38)
15:93962800
(GRCh37)
- Canonical SPDI:
- NC_000015.10:93419570:CGC:CGCACGC
- Validated:
- by frequency,by alfa
- MAF:
CGCACGC=0./0
(
ALFA)
CGCA=0.00006/4
(GnomAD)
- HGVS:
19.
rs1491497561 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 15:93330880
(GRCh38)
15:93874109
(GRCh37)
- Canonical SPDI:
- NC_000015.10:93330878:AGA:A
- Gene:
- LOC105370982 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000253/3
(
ALFA)
-=0.000641/86
(GnomAD)
-=0.000673/19
(TOMMO)
- HGVS: