Links from Gene
Items: 1 to 20 of 105371
1.
rs1491582567 has merged into rs71359751 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 17:72955308
(GRCh38)
17:70951447
(GRCh37)
- Canonical SPDI:
- NC_000017.11:72955298:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000017.11:72955298:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000017.11:72955298:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000017.11:72955298:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:72955298:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:72955298:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:72955298:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:72955298:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:72955298:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:72955298:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:72955298:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:72955298:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000017.11:72955298:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:72955298:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:72955298:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:72955298:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:72955298:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:72955298:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:72955298:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:72955298:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:72955298:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:72955298:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:72955298:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:72955298:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:72955298:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:72955298:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:72955298:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:72955298:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:72955298:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:72955298:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:72955298:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:72955298:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:72955298:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:72955298:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:72955298:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:72955298:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:72955298:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:72955298:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:72955298:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:72955298:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:72955298:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:72955298:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:72955298:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:72955298:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:72955298:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:72955298:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:72955298:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:72955298:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:72955298:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:72955298:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:72955298:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- SLC39A11 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTT=0./0
(
ALFA)
-=0./0
(GENOME_DK)
- HGVS:
NC_000017.11:g.72955308_72955318del, NC_000017.11:g.72955309_72955318del, NC_000017.11:g.72955310_72955318del, NC_000017.11:g.72955311_72955318del, NC_000017.11:g.72955312_72955318del, NC_000017.11:g.72955313_72955318del, NC_000017.11:g.72955314_72955318del, NC_000017.11:g.72955315_72955318del, NC_000017.11:g.72955316_72955318del, NC_000017.11:g.72955317_72955318del, NC_000017.11:g.72955318del, NC_000017.11:g.72955318dup, NC_000017.11:g.72955317_72955318dup, NC_000017.11:g.72955316_72955318dup, NC_000017.11:g.72955315_72955318dup, NC_000017.11:g.72955314_72955318dup, NC_000017.11:g.72955313_72955318dup, NC_000017.11:g.72955312_72955318dup, NC_000017.11:g.72955311_72955318dup, NC_000017.11:g.72955310_72955318dup, NC_000017.11:g.72955309_72955318dup, NC_000017.11:g.72955308_72955318dup, NC_000017.11:g.72955307_72955318dup, NC_000017.11:g.72955306_72955318dup, NC_000017.11:g.72955305_72955318dup, NC_000017.11:g.72955304_72955318dup, NC_000017.11:g.72955303_72955318dup, NC_000017.11:g.72955302_72955318dup, NC_000017.11:g.72955301_72955318dup, NC_000017.11:g.72955300_72955318dup, NC_000017.11:g.72955299_72955318dup, NC_000017.11:g.72955318_72955319insTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.72955318_72955319insTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.72955318_72955319insTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.72955318_72955319insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.72955318_72955319insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.72955318_72955319insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.72955318_72955319insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.72955318_72955319insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.72955318_72955319insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.72955318_72955319insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.72955318_72955319insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.72955318_72955319insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.72955318_72955319insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.72955318_72955319insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.72955318_72955319insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.72955318_72955319insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.72955318_72955319insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.72955318_72955319insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.72955318_72955319insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.72955318_72955319insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.70951447_70951457del, NC_000017.10:g.70951448_70951457del, NC_000017.10:g.70951449_70951457del, NC_000017.10:g.70951450_70951457del, NC_000017.10:g.70951451_70951457del, NC_000017.10:g.70951452_70951457del, NC_000017.10:g.70951453_70951457del, NC_000017.10:g.70951454_70951457del, NC_000017.10:g.70951455_70951457del, NC_000017.10:g.70951456_70951457del, NC_000017.10:g.70951457del, NC_000017.10:g.70951457dup, NC_000017.10:g.70951456_70951457dup, NC_000017.10:g.70951455_70951457dup, NC_000017.10:g.70951454_70951457dup, NC_000017.10:g.70951453_70951457dup, NC_000017.10:g.70951452_70951457dup, NC_000017.10:g.70951451_70951457dup, NC_000017.10:g.70951450_70951457dup, NC_000017.10:g.70951449_70951457dup, NC_000017.10:g.70951448_70951457dup, NC_000017.10:g.70951447_70951457dup, NC_000017.10:g.70951446_70951457dup, NC_000017.10:g.70951445_70951457dup, NC_000017.10:g.70951444_70951457dup, NC_000017.10:g.70951443_70951457dup, NC_000017.10:g.70951442_70951457dup, NC_000017.10:g.70951441_70951457dup, NC_000017.10:g.70951440_70951457dup, NC_000017.10:g.70951439_70951457dup, NC_000017.10:g.70951438_70951457dup, NC_000017.10:g.70951457_70951458insTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.70951457_70951458insTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.70951457_70951458insTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.70951457_70951458insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.70951457_70951458insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.70951457_70951458insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.70951457_70951458insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.70951457_70951458insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.70951457_70951458insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.70951457_70951458insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.70951457_70951458insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.70951457_70951458insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.70951457_70951458insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.70951457_70951458insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.70951457_70951458insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.70951457_70951458insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.70951457_70951458insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.70951457_70951458insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.70951457_70951458insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.70951457_70951458insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
2.
rs1491576908 has merged into rs397857013 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTT>-,T,TT,TTTT,TTTTT,TTTTTT
[Show Flanks]
- Chromosome:
- 17:72708951
(GRCh38)
17:70705090
(GRCh37)
- Canonical SPDI:
- NC_000017.11:72708940:TTTTTTTTTTTTT:TTTTTTTTTT,NC_000017.11:72708940:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000017.11:72708940:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:72708940:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:72708940:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:72708940:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT
- Gene:
- SLC39A11 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTT=0./0
(
ALFA)
T=0.15436/92
(NorthernSweden)
T=0.18096/671
(TWINSUK)
T=0.18137/699
(ALSPAC)
T=0.27875/1396
(1000Genomes)
- HGVS:
NC_000017.11:g.72708951_72708953del, NC_000017.11:g.72708952_72708953del, NC_000017.11:g.72708953del, NC_000017.11:g.72708953dup, NC_000017.11:g.72708952_72708953dup, NC_000017.11:g.72708951_72708953dup, NC_000017.10:g.70705090_70705092del, NC_000017.10:g.70705091_70705092del, NC_000017.10:g.70705092del, NC_000017.10:g.70705092dup, NC_000017.10:g.70705091_70705092dup, NC_000017.10:g.70705090_70705092dup
3.
rs1491575774 has merged into rs777708386 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 17:73008164
(GRCh38)
17:71004304
(GRCh37)
- Canonical SPDI:
- NC_000017.11:73008164:G:GG
- Gene:
- SLC39A11 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GG=0./0
(
ALFA)
G=0.00066/17
(GnomAD)
G=0.00156/6
(ALSPAC)
G=0.00216/8
(TWINSUK)
- HGVS:
5.
rs1491564305 has merged into rs976689524 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTT>-,TT,TTTT,TTTTT,TTTTTTT,TTTTTTTT
[Show Flanks]
- Chromosome:
- 17:72781423
(GRCh38)
17:70777562
(GRCh37)
- Canonical SPDI:
- NC_000017.11:72781413:TTTTTTTTTTTT:TTTTTTTTT,NC_000017.11:72781413:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000017.11:72781413:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:72781413:TTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:72781413:TTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:72781413:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTT
- Gene:
- SLC39A11 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTT=0./0
(
ALFA)
- HGVS:
NC_000017.11:g.72781423_72781425del, NC_000017.11:g.72781425del, NC_000017.11:g.72781425dup, NC_000017.11:g.72781424_72781425dup, NC_000017.11:g.72781422_72781425dup, NC_000017.11:g.72781421_72781425dup, NC_000017.10:g.70777562_70777564del, NC_000017.10:g.70777564del, NC_000017.10:g.70777564dup, NC_000017.10:g.70777563_70777564dup, NC_000017.10:g.70777561_70777564dup, NC_000017.10:g.70777560_70777564dup
6.
rs1491559220 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A,AA,AAA,AAAA,GA
[Show Flanks]
- Chromosome:
- 17:73050322
(GRCh38)
17:71046462
(GRCh37)
- Canonical SPDI:
- NC_000017.11:73050322::A,NC_000017.11:73050322::AA,NC_000017.11:73050322::AAA,NC_000017.11:73050322::AAAA,NC_000017.11:73050322::GA
- Gene:
- SLC39A11 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
8.
rs1491550242 has merged into rs1201687637 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATATAT>-,AT,ATAT,ATATATAT,ATATATATAT,ATATATATATAT
[Show Flanks]
- Chromosome:
- 17:72670219
(GRCh38)
17:70666358
(GRCh37)
- Canonical SPDI:
- NC_000017.11:72670212:ATATATATATAT:ATATAT,NC_000017.11:72670212:ATATATATATAT:ATATATAT,NC_000017.11:72670212:ATATATATATAT:ATATATATAT,NC_000017.11:72670212:ATATATATATAT:ATATATATATATAT,NC_000017.11:72670212:ATATATATATAT:ATATATATATATATAT,NC_000017.11:72670212:ATATATATATAT:ATATATATATATATATAT
- Gene:
- SLC39A11 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATATATAT=0./0
(
ALFA)
AT=0.01884/11
(NorthernSweden)
- HGVS:
NC_000017.11:g.72670213AT[3], NC_000017.11:g.72670213AT[4], NC_000017.11:g.72670213AT[5], NC_000017.11:g.72670213AT[7], NC_000017.11:g.72670213AT[8], NC_000017.11:g.72670213AT[9], NC_000017.10:g.70666352AT[3], NC_000017.10:g.70666352AT[4], NC_000017.10:g.70666352AT[5], NC_000017.10:g.70666352AT[7], NC_000017.10:g.70666352AT[8], NC_000017.10:g.70666352AT[9]
9.
rs1491536689 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 17:73035863
(GRCh38)
17:71032002
(GRCh37)
- Canonical SPDI:
- NC_000017.11:73035862:CA:
- Gene:
- SLC39A11 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00169/20
(
ALFA)
-=0.00198/54
(TOMMO)
- HGVS:
10.
rs1491535052 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CTTT
[Show Flanks]
- Chromosome:
- 17:72732041
(GRCh38)
17:70728181
(GRCh37)
- Canonical SPDI:
- NC_000017.11:72732041:TTT:TTTCTTT
- Gene:
- SLC39A11 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTCTTT=0./0
(
ALFA)
TTTC=0.00041/6
(TOMMO)
- HGVS:
11.
rs1491531834 has merged into rs1418420412 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GA>-,GAGA
[Show Flanks]
- Chromosome:
- 17:73004171
(GRCh38)
17:71000310
(GRCh37)
- Canonical SPDI:
- NC_000017.11:73004169:AGA:A,NC_000017.11:73004169:AGA:AGAGA
- Gene:
- SLC39A11 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
AGAGA=0./0
(
ALFA)
-=0.00002/1
(GnomAD)
- HGVS:
12.
rs1491530747 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GAA
[Show Flanks]
- Chromosome:
- 17:72900108
(GRCh38)
17:70896248
(GRCh37)
- Canonical SPDI:
- NC_000017.11:72900108:AA:AAGAA
- Gene:
- SLC39A11 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAGAA=0.000169/2
(
ALFA)
AAG=0.000546/9
(TOMMO)
AAG=0.00593/649
(GnomAD)
- HGVS:
13.
rs1491530382 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->AGAGA,AGAGAGAGA,AGAGAGAGAGAGAGTA,AGAGAGAGAGTA
[Show Flanks]
- Chromosome:
- 17:72967400
(GRCh38)
17:70963540
(GRCh37)
- Canonical SPDI:
- NC_000017.11:72967400::AGAGA,NC_000017.11:72967400::AGAGAGAGA,NC_000017.11:72967400::AGAGAGAGAGAGAGTA,NC_000017.11:72967400::AGAGAGAGAGTA
- Gene:
- SLC39A11 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AGAGAGAGAGTA=0./0
(
ALFA)
AGAGAGAGAGAGAGTA=0.000004/1
(TOPMED)
AGAGAGAGAGTA=0.000075/7
(GnomAD)
AGAGAGAGA=0.017234/282
(TOMMO)
- HGVS:
14.
rs1491523463 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 17:73004231
(GRCh38)
17:71000370
(GRCh37)
- Canonical SPDI:
- NC_000017.11:73004229:AGA:A
- Gene:
- SLC39A11 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
-=0.00001/1
(GnomAD)
- HGVS:
15.
rs1491523036 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 17:72849810
(GRCh38)
17:70845949
(GRCh37)
- Canonical SPDI:
- NC_000017.11:72849809:CA:
- Gene:
- SLC39A11 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00017/2
(
ALFA)
-=0.00028/5
(TOMMO)
-=0.00061/16
(ExAC)
- HGVS:
18.
rs1491514652 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 17:73050343
(GRCh38)
17:71046483
(GRCh37)
- Canonical SPDI:
- NC_000017.11:73050343::T
- Gene:
- SLC39A11 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
19.
rs1491511899 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 17:72852204
(GRCh38)
17:70848343
(GRCh37)
- Canonical SPDI:
- NC_000017.11:72852203:CA:
- Gene:
- SLC39A11 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00548/65
(
ALFA)
-=0.00469/121
(TOMMO)
- HGVS:
20.
rs1491507462 has merged into rs199650969 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAATAATAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 17:72680051
(GRCh38)
17:70676190
(GRCh37)
- Canonical SPDI:
- NC_000017.11:72680041:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000017.11:72680041:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000017.11:72680041:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:72680041:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:72680041:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:72680041:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:72680041:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:72680041:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:72680041:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:72680041:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:72680041:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:72680041:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:72680041:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:72680041:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:72680041:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:72680041:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:72680041:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:72680041:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:72680041:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:72680041:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:72680041:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:72680041:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:72680041:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:72680041:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:72680041:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:72680041:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:72680041:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:72680041:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:72680041:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:72680041:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:72680041:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:72680041:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:72680041:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:72680041:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:72680041:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:72680041:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:72680041:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAATAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- SLC39A11 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAA=0./0
(
ALFA)
AAAAAAAAAAAAAAAAAAA=0./0
(GENOME_DK)
AAAAAAAAAAAAAAAAAAA=0.0143/53
(TWINSUK)
AAAAAAAAAAAAAAAAAAA=0.02/77
(ALSPAC)
AAAAAAAAAAAAAAAAAAA=0.1476/739
(1000Genomes)
- HGVS:
NC_000017.11:g.72680051_72680070del, NC_000017.11:g.72680052_72680070del, NC_000017.11:g.72680053_72680070del, NC_000017.11:g.72680054_72680070del, NC_000017.11:g.72680055_72680070del, NC_000017.11:g.72680056_72680070del, NC_000017.11:g.72680057_72680070del, NC_000017.11:g.72680058_72680070del, NC_000017.11:g.72680059_72680070del, NC_000017.11:g.72680060_72680070del, NC_000017.11:g.72680061_72680070del, NC_000017.11:g.72680062_72680070del, NC_000017.11:g.72680063_72680070del, NC_000017.11:g.72680064_72680070del, NC_000017.11:g.72680065_72680070del, NC_000017.11:g.72680066_72680070del, NC_000017.11:g.72680067_72680070del, NC_000017.11:g.72680068_72680070del, NC_000017.11:g.72680069_72680070del, NC_000017.11:g.72680070del, NC_000017.11:g.72680070dup, NC_000017.11:g.72680069_72680070dup, NC_000017.11:g.72680068_72680070dup, NC_000017.11:g.72680067_72680070dup, NC_000017.11:g.72680066_72680070dup, NC_000017.11:g.72680065_72680070dup, NC_000017.11:g.72680064_72680070dup, NC_000017.11:g.72680063_72680070dup, NC_000017.11:g.72680062_72680070dup, NC_000017.11:g.72680061_72680070dup, NC_000017.11:g.72680060_72680070dup, NC_000017.11:g.72680059_72680070dup, NC_000017.11:g.72680058_72680070dup, NC_000017.11:g.72680053_72680070dup, NC_000017.11:g.72680043_72680070dup, NC_000017.11:g.72680070_72680071insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.72680042_72680070A[34]TAATAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000017.10:g.70676190_70676209del, NC_000017.10:g.70676191_70676209del, NC_000017.10:g.70676192_70676209del, NC_000017.10:g.70676193_70676209del, NC_000017.10:g.70676194_70676209del, NC_000017.10:g.70676195_70676209del, NC_000017.10:g.70676196_70676209del, NC_000017.10:g.70676197_70676209del, NC_000017.10:g.70676198_70676209del, NC_000017.10:g.70676199_70676209del, NC_000017.10:g.70676200_70676209del, NC_000017.10:g.70676201_70676209del, NC_000017.10:g.70676202_70676209del, NC_000017.10:g.70676203_70676209del, NC_000017.10:g.70676204_70676209del, NC_000017.10:g.70676205_70676209del, NC_000017.10:g.70676206_70676209del, NC_000017.10:g.70676207_70676209del, NC_000017.10:g.70676208_70676209del, NC_000017.10:g.70676209del, NC_000017.10:g.70676209dup, NC_000017.10:g.70676208_70676209dup, NC_000017.10:g.70676207_70676209dup, NC_000017.10:g.70676206_70676209dup, NC_000017.10:g.70676205_70676209dup, NC_000017.10:g.70676204_70676209dup, NC_000017.10:g.70676203_70676209dup, NC_000017.10:g.70676202_70676209dup, NC_000017.10:g.70676201_70676209dup, NC_000017.10:g.70676200_70676209dup, NC_000017.10:g.70676199_70676209dup, NC_000017.10:g.70676198_70676209dup, NC_000017.10:g.70676197_70676209dup, NC_000017.10:g.70676192_70676209dup, NC_000017.10:g.70676182_70676209dup, NC_000017.10:g.70676209_70676210insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.70676181_70676209A[34]TAATAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]