Links from Gene
Items: 1 to 20 of 1000
1.
rs1491588278 has merged into rs747814701 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTT>-,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 8:79863554
(GRCh38)
8:80775789
(GRCh37)
- Canonical SPDI:
- NC_000008.11:79863544:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000008.11:79863544:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000008.11:79863544:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000008.11:79863544:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000008.11:79863544:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000008.11:79863544:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000008.11:79863544:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000008.11:79863544:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000008.11:79863544:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000008.11:79863544:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000008.11:79863544:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:79863544:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:79863544:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:79863544:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:79863544:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:79863544:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:79863544:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:79863544:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:79863544:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:79863544:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:79863544:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:79863544:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:79863544:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:79863544:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:79863544:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:79863544:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:79863544:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:79863544:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:79863544:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:79863544:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:79863544:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:79863544:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- LOC101927040 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
NC_000008.11:g.79863554_79863566del, NC_000008.11:g.79863558_79863566del, NC_000008.11:g.79863559_79863566del, NC_000008.11:g.79863560_79863566del, NC_000008.11:g.79863561_79863566del, NC_000008.11:g.79863562_79863566del, NC_000008.11:g.79863563_79863566del, NC_000008.11:g.79863564_79863566del, NC_000008.11:g.79863565_79863566del, NC_000008.11:g.79863566del, NC_000008.11:g.79863566dup, NC_000008.11:g.79863565_79863566dup, NC_000008.11:g.79863564_79863566dup, NC_000008.11:g.79863563_79863566dup, NC_000008.11:g.79863562_79863566dup, NC_000008.11:g.79863561_79863566dup, NC_000008.11:g.79863560_79863566dup, NC_000008.11:g.79863559_79863566dup, NC_000008.11:g.79863558_79863566dup, NC_000008.11:g.79863557_79863566dup, NC_000008.11:g.79863556_79863566dup, NC_000008.11:g.79863555_79863566dup, NC_000008.11:g.79863549_79863566dup, NC_000008.11:g.79863548_79863566dup, NC_000008.11:g.79863566_79863567insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.79863566_79863567insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.79863566_79863567insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.79863566_79863567insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.79863566_79863567insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.79863566_79863567insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.79863566_79863567insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.79863566_79863567insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.80775789_80775801del, NC_000008.10:g.80775793_80775801del, NC_000008.10:g.80775794_80775801del, NC_000008.10:g.80775795_80775801del, NC_000008.10:g.80775796_80775801del, NC_000008.10:g.80775797_80775801del, NC_000008.10:g.80775798_80775801del, NC_000008.10:g.80775799_80775801del, NC_000008.10:g.80775800_80775801del, NC_000008.10:g.80775801del, NC_000008.10:g.80775801dup, NC_000008.10:g.80775800_80775801dup, NC_000008.10:g.80775799_80775801dup, NC_000008.10:g.80775798_80775801dup, NC_000008.10:g.80775797_80775801dup, NC_000008.10:g.80775796_80775801dup, NC_000008.10:g.80775795_80775801dup, NC_000008.10:g.80775794_80775801dup, NC_000008.10:g.80775793_80775801dup, NC_000008.10:g.80775792_80775801dup, NC_000008.10:g.80775791_80775801dup, NC_000008.10:g.80775790_80775801dup, NC_000008.10:g.80775784_80775801dup, NC_000008.10:g.80775783_80775801dup, NC_000008.10:g.80775801_80775802insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.80775801_80775802insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.80775801_80775802insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.80775801_80775802insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.80775801_80775802insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.80775801_80775802insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.80775801_80775802insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.80775801_80775802insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
2.
rs1491572135 has merged into rs71304764 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTGT>-,GT,GTGTGT,GTGTGTGT
[Show Flanks]
- Chromosome:
- 8:79792710
(GRCh38)
8:80704945
(GRCh37)
- Canonical SPDI:
- NC_000008.11:79792698:TGTGTGTGTGTGTGT:TGTGTGTGTGT,NC_000008.11:79792698:TGTGTGTGTGTGTGT:TGTGTGTGTGTGT,NC_000008.11:79792698:TGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000008.11:79792698:TGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT
- Gene:
- LOC101927040 (Varview), LINC01607 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGTGTGTGTGT=0./0
(
ALFA)
TG=0.096/370
(ALSPAC)
TG=0.10868/403
(TWINSUK)
- HGVS:
3.
rs1491563624 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TG>-
[Show Flanks]
- Chromosome:
- 8:79775270
(GRCh38)
8:80687505
(GRCh37)
- Canonical SPDI:
- NC_000008.11:79775269:TG:
- Gene:
- LOC101927040 (Varview), LINC01607 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00065/12
(
ALFA)
-=0.000342/47
(GnomAD)
-=0.000382/101
(TOPMED)
- HGVS:
4.
rs1491510444 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 8:79846256
(GRCh38)
8:80758492
(GRCh37)
- Canonical SPDI:
- NC_000008.11:79846256::C
- Gene:
- LOC101927040 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
C=0.000148/20
(GnomAD)
- HGVS:
5.
rs1491502406 has merged into rs56293746 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 8:79839135
(GRCh38)
8:80751370
(GRCh37)
- Canonical SPDI:
- NC_000008.11:79839122:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000008.11:79839122:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000008.11:79839122:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000008.11:79839122:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000008.11:79839122:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000008.11:79839122:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000008.11:79839122:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000008.11:79839122:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000008.11:79839122:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000008.11:79839122:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- LOC101927040 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAA=0./0
(
ALFA)
AA=0.2718/1361
(1000Genomes)
- HGVS:
NC_000008.11:g.79839135_79839140del, NC_000008.11:g.79839136_79839140del, NC_000008.11:g.79839137_79839140del, NC_000008.11:g.79839138_79839140del, NC_000008.11:g.79839139_79839140del, NC_000008.11:g.79839140del, NC_000008.11:g.79839140dup, NC_000008.11:g.79839139_79839140dup, NC_000008.11:g.79839138_79839140dup, NC_000008.11:g.79839130_79839140dup, NC_000008.10:g.80751370_80751375del, NC_000008.10:g.80751371_80751375del, NC_000008.10:g.80751372_80751375del, NC_000008.10:g.80751373_80751375del, NC_000008.10:g.80751374_80751375del, NC_000008.10:g.80751375del, NC_000008.10:g.80751375dup, NC_000008.10:g.80751374_80751375dup, NC_000008.10:g.80751373_80751375dup, NC_000008.10:g.80751365_80751375dup
6.
rs1491485505 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A,C,T
[Show Flanks]
- Chromosome:
- 8:79864949
(GRCh38)
8:80777185
(GRCh37)
- Canonical SPDI:
- NC_000008.11:79864949::A,NC_000008.11:79864949::C,NC_000008.11:79864949::T
- Gene:
- LOC101927040 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
C=0.005/3
(NorthernSweden)
- HGVS:
7.
rs1491482611 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,A,AAAA
[Show Flanks]
- Chromosome:
- 8:79846257
(GRCh38)
8:80758492
(GRCh37)
- Canonical SPDI:
- NC_000008.11:79846255:AAA:A,NC_000008.11:79846255:AAA:AA,NC_000008.11:79846255:AAA:AAAAA
- Gene:
- LOC101927040 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAA=0./0
(
ALFA)
-=0.000017/2
(GnomAD)
-=0.000158/4
(TOMMO)
- HGVS:
8.
rs1491428741 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AG,CG
[Show Flanks]
- Chromosome:
- 8:79864939
(GRCh38)
8:80777175
(GRCh37)
- Canonical SPDI:
- NC_000008.11:79864939:G:GAG,NC_000008.11:79864939:G:GCG
- Gene:
- LOC101927040 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GCG=0./0
(
ALFA)
GC=0.03326/786
(GnomAD)
- HGVS:
10.
rs1491356616 has merged into rs796671479 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TGTG>-,TG,TGTGTG,TGTGTGTG,TGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTGTG
[Show Flanks]
- Chromosome:
- 8:79824320
(GRCh38)
8:80736555
(GRCh37)
- Canonical SPDI:
- NC_000008.11:79824307:TGTGTGTGTGTGTGTG:TGTGTGTGTGTG,NC_000008.11:79824307:TGTGTGTGTGTGTGTG:TGTGTGTGTGTGTG,NC_000008.11:79824307:TGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTG,NC_000008.11:79824307:TGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTG,NC_000008.11:79824307:TGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTG,NC_000008.11:79824307:TGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTG,NC_000008.11:79824307:TGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTG
- Gene:
- LOC101927040 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGTGTGTGTGTGTGTGTGTG=0./0
(
ALFA)
- HGVS:
NC_000008.11:g.79824308TG[6], NC_000008.11:g.79824308TG[7], NC_000008.11:g.79824308TG[9], NC_000008.11:g.79824308TG[10], NC_000008.11:g.79824308TG[11], NC_000008.11:g.79824308TG[12], NC_000008.11:g.79824308TG[13], NC_000008.10:g.80736543TG[6], NC_000008.10:g.80736543TG[7], NC_000008.10:g.80736543TG[9], NC_000008.10:g.80736543TG[10], NC_000008.10:g.80736543TG[11], NC_000008.10:g.80736543TG[12], NC_000008.10:g.80736543TG[13]
11.
rs1491338254 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 8:79839122
(GRCh38)
8:80751357
(GRCh37)
- Canonical SPDI:
- NC_000008.11:79839121:CA:
- Gene:
- LOC101927040 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.02049/243
(
ALFA)
-=0.0011/31
(TOMMO)
- HGVS:
12.
rs1491297599 has merged into rs1385763269 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTT>-,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 8:79787721
(GRCh38)
8:80699956
(GRCh37)
- Canonical SPDI:
- NC_000008.11:79787710:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000008.11:79787710:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000008.11:79787710:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000008.11:79787710:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000008.11:79787710:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000008.11:79787710:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000008.11:79787710:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000008.11:79787710:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000008.11:79787710:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:79787710:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:79787710:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:79787710:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:79787710:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- LOC101927040 (Varview), LINC01607 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.002024/1
(NorthernSweden)
- HGVS:
NC_000008.11:g.79787721_79787732del, NC_000008.11:g.79787725_79787732del, NC_000008.11:g.79787726_79787732del, NC_000008.11:g.79787728_79787732del, NC_000008.11:g.79787729_79787732del, NC_000008.11:g.79787730_79787732del, NC_000008.11:g.79787731_79787732del, NC_000008.11:g.79787732del, NC_000008.11:g.79787732dup, NC_000008.11:g.79787731_79787732dup, NC_000008.11:g.79787730_79787732dup, NC_000008.11:g.79787728_79787732dup, NC_000008.11:g.79787732_79787733insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.80699956_80699967del, NC_000008.10:g.80699960_80699967del, NC_000008.10:g.80699961_80699967del, NC_000008.10:g.80699963_80699967del, NC_000008.10:g.80699964_80699967del, NC_000008.10:g.80699965_80699967del, NC_000008.10:g.80699966_80699967del, NC_000008.10:g.80699967del, NC_000008.10:g.80699967dup, NC_000008.10:g.80699966_80699967dup, NC_000008.10:g.80699965_80699967dup, NC_000008.10:g.80699963_80699967dup, NC_000008.10:g.80699967_80699968insTTTTTTTTTTTTTTTTTTTTTTTTTTT
13.
rs1491284694 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TG>-
[Show Flanks]
- Chromosome:
- 8:79852189
(GRCh38)
8:80764424
(GRCh37)
- Canonical SPDI:
- NC_000008.11:79852188:TG:
- Gene:
- LOC101927040 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.005395/64
(
ALFA)
-=0.000231/27
(GnomAD)
-=0.001559/44
(TOMMO)
- HGVS:
14.
rs1491243316 has merged into rs61388927 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GGG>-,G,GG,GGGG,GGGGG,GGGGGG,GGGGGGG,GGGGGGGG
[Show Flanks]
- Chromosome:
- 8:79864948
(GRCh38)
8:80777183
(GRCh37)
- Canonical SPDI:
- NC_000008.11:79864938:GGGGGGGGGGGG:GGGGGGGGG,NC_000008.11:79864938:GGGGGGGGGGGG:GGGGGGGGGG,NC_000008.11:79864938:GGGGGGGGGGGG:GGGGGGGGGGG,NC_000008.11:79864938:GGGGGGGGGGGG:GGGGGGGGGGGGG,NC_000008.11:79864938:GGGGGGGGGGGG:GGGGGGGGGGGGGG,NC_000008.11:79864938:GGGGGGGGGGGG:GGGGGGGGGGGGGGG,NC_000008.11:79864938:GGGGGGGGGGGG:GGGGGGGGGGGGGGGG,NC_000008.11:79864938:GGGGGGGGGGGG:GGGGGGGGGGGGGGGGG
- Gene:
- LOC101927040 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGGGGGGGGG=0./0
(
ALFA)
-=0.4474/17
(GENOME_DK)
- HGVS:
NC_000008.11:g.79864948_79864950del, NC_000008.11:g.79864949_79864950del, NC_000008.11:g.79864950del, NC_000008.11:g.79864950dup, NC_000008.11:g.79864949_79864950dup, NC_000008.11:g.79864948_79864950dup, NC_000008.11:g.79864947_79864950dup, NC_000008.11:g.79864946_79864950dup, NC_000008.10:g.80777183_80777185del, NC_000008.10:g.80777184_80777185del, NC_000008.10:g.80777185del, NC_000008.10:g.80777185dup, NC_000008.10:g.80777184_80777185dup, NC_000008.10:g.80777183_80777185dup, NC_000008.10:g.80777182_80777185dup, NC_000008.10:g.80777181_80777185dup
15.
rs1491135151 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AC
[Show Flanks]
- Chromosome:
- 8:79819203
(GRCh38)
8:80731439
(GRCh37)
- Canonical SPDI:
- NC_000008.11:79819203:AC:ACAC
- Gene:
- LOC101927040 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
ACAC=0./0
(
ALFA)
AC=0.000004/1
(TOPMED)
- HGVS:
16.
rs1491081667 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 8:79839139
(GRCh38)
8:80751375
(GRCh37)
- Canonical SPDI:
- NC_000008.11:79839139::G
- Gene:
- LOC101927040 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000009/1
(GnomAD)
- HGVS:
17.
rs1491043985 has merged into rs565395317 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 8:79828326
(GRCh38)
8:80740561
(GRCh37)
- Canonical SPDI:
- NC_000008.11:79828315:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000008.11:79828315:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000008.11:79828315:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000008.11:79828315:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000008.11:79828315:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000008.11:79828315:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000008.11:79828315:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000008.11:79828315:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000008.11:79828315:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000008.11:79828315:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000008.11:79828315:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:79828315:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:79828315:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:79828315:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:79828315:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:79828315:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:79828315:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:79828315:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:79828315:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:79828315:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:79828315:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:79828315:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:79828315:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:79828315:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- LOC101927040 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000008.11:g.79828326_79828337del, NC_000008.11:g.79828328_79828337del, NC_000008.11:g.79828329_79828337del, NC_000008.11:g.79828330_79828337del, NC_000008.11:g.79828331_79828337del, NC_000008.11:g.79828332_79828337del, NC_000008.11:g.79828333_79828337del, NC_000008.11:g.79828335_79828337del, NC_000008.11:g.79828336_79828337del, NC_000008.11:g.79828337del, NC_000008.11:g.79828337dup, NC_000008.11:g.79828336_79828337dup, NC_000008.11:g.79828335_79828337dup, NC_000008.11:g.79828334_79828337dup, NC_000008.11:g.79828333_79828337dup, NC_000008.11:g.79828332_79828337dup, NC_000008.11:g.79828331_79828337dup, NC_000008.11:g.79828330_79828337dup, NC_000008.11:g.79828329_79828337dup, NC_000008.11:g.79828323_79828337dup, NC_000008.11:g.79828322_79828337dup, NC_000008.11:g.79828320_79828337dup, NC_000008.11:g.79828318_79828337dup, NC_000008.11:g.79828337_79828338insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.80740561_80740572del, NC_000008.10:g.80740563_80740572del, NC_000008.10:g.80740564_80740572del, NC_000008.10:g.80740565_80740572del, NC_000008.10:g.80740566_80740572del, NC_000008.10:g.80740567_80740572del, NC_000008.10:g.80740568_80740572del, NC_000008.10:g.80740570_80740572del, NC_000008.10:g.80740571_80740572del, NC_000008.10:g.80740572del, NC_000008.10:g.80740572dup, NC_000008.10:g.80740571_80740572dup, NC_000008.10:g.80740570_80740572dup, NC_000008.10:g.80740569_80740572dup, NC_000008.10:g.80740568_80740572dup, NC_000008.10:g.80740567_80740572dup, NC_000008.10:g.80740566_80740572dup, NC_000008.10:g.80740565_80740572dup, NC_000008.10:g.80740564_80740572dup, NC_000008.10:g.80740558_80740572dup, NC_000008.10:g.80740557_80740572dup, NC_000008.10:g.80740555_80740572dup, NC_000008.10:g.80740553_80740572dup, NC_000008.10:g.80740572_80740573insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
19.
rs1490957526 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 8:79839258
(GRCh38)
8:80751493
(GRCh37)
- Canonical SPDI:
- NC_000008.11:79839257:G:A
- Gene:
- LOC101927040 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
A=0.000156/1
(1000Genomes)
- HGVS:
20.
rs1490882417 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 8:79806278
(GRCh38)
8:80718513
(GRCh37)
- Canonical SPDI:
- NC_000008.11:79806277:G:A
- Gene:
- LOC101927040 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS: