Links from Gene
Items: 1 to 20 of 10591
1.
rs1491557218 has merged into rs68092921 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 6:11116991
(GRCh38)
6:11117224
(GRCh37)
- Canonical SPDI:
- NC_000006.12:11116982:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000006.12:11116982:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000006.12:11116982:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:11116982:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:11116982:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:11116982:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:11116982:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:11116982:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:11116982:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:11116982:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000006.12:11116982:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000006.12:11116982:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000006.12:11116982:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:11116982:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:11116982:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:11116982:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:11116982:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:11116982:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:11116982:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:11116982:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:11116982:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:11116982:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:11116982:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:11116982:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:11116982:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:11116982:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:11116982:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:11116982:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:11116982:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:11116982:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:11116982:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:11116982:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:11116982:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:11116982:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:11116982:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:11116982:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:11116982:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:11116982:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:11116982:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:11116982:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:11116982:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:11116982:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:11116982:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:11116982:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:11116982:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:11116982:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:11116982:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:11116982:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- SMIM13 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000006.12:g.11116991_11117009del, NC_000006.12:g.11116994_11117009del, NC_000006.12:g.11116995_11117009del, NC_000006.12:g.11116996_11117009del, NC_000006.12:g.11116997_11117009del, NC_000006.12:g.11116998_11117009del, NC_000006.12:g.11116999_11117009del, NC_000006.12:g.11117000_11117009del, NC_000006.12:g.11117001_11117009del, NC_000006.12:g.11117002_11117009del, NC_000006.12:g.11117003_11117009del, NC_000006.12:g.11117004_11117009del, NC_000006.12:g.11117005_11117009del, NC_000006.12:g.11117006_11117009del, NC_000006.12:g.11117007_11117009del, NC_000006.12:g.11117008_11117009del, NC_000006.12:g.11117009del, NC_000006.12:g.11117009dup, NC_000006.12:g.11117008_11117009dup, NC_000006.12:g.11117007_11117009dup, NC_000006.12:g.11117006_11117009dup, NC_000006.12:g.11117005_11117009dup, NC_000006.12:g.11117004_11117009dup, NC_000006.12:g.11117003_11117009dup, NC_000006.12:g.11117002_11117009dup, NC_000006.12:g.11117001_11117009dup, NC_000006.12:g.11117000_11117009dup, NC_000006.12:g.11116999_11117009dup, NC_000006.12:g.11116998_11117009dup, NC_000006.12:g.11116997_11117009dup, NC_000006.12:g.11116996_11117009dup, NC_000006.12:g.11116995_11117009dup, NC_000006.12:g.11116994_11117009dup, NC_000006.12:g.11116993_11117009dup, NC_000006.12:g.11116992_11117009dup, NC_000006.12:g.11116991_11117009dup, NC_000006.12:g.11116990_11117009dup, NC_000006.12:g.11116989_11117009dup, NC_000006.12:g.11116988_11117009dup, NC_000006.12:g.11116987_11117009dup, NC_000006.12:g.11116986_11117009dup, NC_000006.12:g.11116985_11117009dup, NC_000006.12:g.11116984_11117009dup, NC_000006.12:g.11117009_11117010insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.12:g.11117009_11117010insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.12:g.11117009_11117010insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.12:g.11117009_11117010insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.12:g.11117009_11117010insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.11117224_11117242del, NC_000006.11:g.11117227_11117242del, NC_000006.11:g.11117228_11117242del, NC_000006.11:g.11117229_11117242del, NC_000006.11:g.11117230_11117242del, NC_000006.11:g.11117231_11117242del, NC_000006.11:g.11117232_11117242del, NC_000006.11:g.11117233_11117242del, NC_000006.11:g.11117234_11117242del, NC_000006.11:g.11117235_11117242del, NC_000006.11:g.11117236_11117242del, NC_000006.11:g.11117237_11117242del, NC_000006.11:g.11117238_11117242del, NC_000006.11:g.11117239_11117242del, NC_000006.11:g.11117240_11117242del, NC_000006.11:g.11117241_11117242del, NC_000006.11:g.11117242del, NC_000006.11:g.11117242dup, NC_000006.11:g.11117241_11117242dup, NC_000006.11:g.11117240_11117242dup, NC_000006.11:g.11117239_11117242dup, NC_000006.11:g.11117238_11117242dup, NC_000006.11:g.11117237_11117242dup, NC_000006.11:g.11117236_11117242dup, NC_000006.11:g.11117235_11117242dup, NC_000006.11:g.11117234_11117242dup, NC_000006.11:g.11117233_11117242dup, NC_000006.11:g.11117232_11117242dup, NC_000006.11:g.11117231_11117242dup, NC_000006.11:g.11117230_11117242dup, NC_000006.11:g.11117229_11117242dup, NC_000006.11:g.11117228_11117242dup, NC_000006.11:g.11117227_11117242dup, NC_000006.11:g.11117226_11117242dup, NC_000006.11:g.11117225_11117242dup, NC_000006.11:g.11117224_11117242dup, NC_000006.11:g.11117223_11117242dup, NC_000006.11:g.11117222_11117242dup, NC_000006.11:g.11117221_11117242dup, NC_000006.11:g.11117220_11117242dup, NC_000006.11:g.11117219_11117242dup, NC_000006.11:g.11117218_11117242dup, NC_000006.11:g.11117217_11117242dup, NC_000006.11:g.11117242_11117243insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.11117242_11117243insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.11117242_11117243insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.11117242_11117243insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.11117242_11117243insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
3.
rs1491436629 has merged into rs537060136 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 6:11092333
(GRCh38)
6:11092566
(GRCh37)
- Canonical SPDI:
- NC_000006.12:11092324:TTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000006.12:11092324:TTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000006.12:11092324:TTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000006.12:11092324:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000006.12:11092324:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:11092324:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:11092324:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:11092324:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:11092324:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:11092324:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:11092324:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000006.12:11092324:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000006.12:11092324:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000006.12:11092324:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:11092324:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:11092324:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:11092324:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:11092324:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:11092324:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:11092324:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:11092324:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:11092324:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:11092324:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:11092324:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- SMIM13 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000006.12:g.11092333_11092341del, NC_000006.12:g.11092334_11092341del, NC_000006.12:g.11092335_11092341del, NC_000006.12:g.11092336_11092341del, NC_000006.12:g.11092337_11092341del, NC_000006.12:g.11092338_11092341del, NC_000006.12:g.11092339_11092341del, NC_000006.12:g.11092340_11092341del, NC_000006.12:g.11092341del, NC_000006.12:g.11092341dup, NC_000006.12:g.11092340_11092341dup, NC_000006.12:g.11092339_11092341dup, NC_000006.12:g.11092338_11092341dup, NC_000006.12:g.11092337_11092341dup, NC_000006.12:g.11092336_11092341dup, NC_000006.12:g.11092335_11092341dup, NC_000006.12:g.11092334_11092341dup, NC_000006.12:g.11092333_11092341dup, NC_000006.12:g.11092332_11092341dup, NC_000006.12:g.11092331_11092341dup, NC_000006.12:g.11092330_11092341dup, NC_000006.12:g.11092329_11092341dup, NC_000006.12:g.11092327_11092341dup, NC_000006.12:g.11092341_11092342insTTTTTTTTTTTTTTTTTT, NC_000006.11:g.11092566_11092574del, NC_000006.11:g.11092567_11092574del, NC_000006.11:g.11092568_11092574del, NC_000006.11:g.11092569_11092574del, NC_000006.11:g.11092570_11092574del, NC_000006.11:g.11092571_11092574del, NC_000006.11:g.11092572_11092574del, NC_000006.11:g.11092573_11092574del, NC_000006.11:g.11092574del, NC_000006.11:g.11092574dup, NC_000006.11:g.11092573_11092574dup, NC_000006.11:g.11092572_11092574dup, NC_000006.11:g.11092571_11092574dup, NC_000006.11:g.11092570_11092574dup, NC_000006.11:g.11092569_11092574dup, NC_000006.11:g.11092568_11092574dup, NC_000006.11:g.11092567_11092574dup, NC_000006.11:g.11092566_11092574dup, NC_000006.11:g.11092565_11092574dup, NC_000006.11:g.11092564_11092574dup, NC_000006.11:g.11092563_11092574dup, NC_000006.11:g.11092562_11092574dup, NC_000006.11:g.11092560_11092574dup, NC_000006.11:g.11092574_11092575insTTTTTTTTTTTTTTTTTT
4.
rs1491428299 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CTT
[Show Flanks]
- Chromosome:
- 6:11092325
(GRCh38)
6:11092559
(GRCh37)
- Canonical SPDI:
- NC_000006.12:11092325:TT:TTCTT
- Gene:
- SMIM13 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
TTCTT=0.00008/1
(
ALFA)
TTC=0.00067/18
(GnomAD)
- HGVS:
5.
rs1491419556 has merged into rs80159629 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTT>-,T,TT,TTTT,TTTTT,TTTTTT
[Show Flanks]
- Chromosome:
- 6:11133749
(GRCh38)
6:11133982
(GRCh37)
- Canonical SPDI:
- NC_000006.12:11133738:TTTTTTTTTTTTT:TTTTTTTTTT,NC_000006.12:11133738:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000006.12:11133738:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:11133738:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:11133738:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:11133738:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT
- Gene:
- SMIM13 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTT=0./0
(
ALFA)
T=0.2/8
(GENOME_DK)
T=0.24461/1225
(1000Genomes)
- HGVS:
NC_000006.12:g.11133749_11133751del, NC_000006.12:g.11133750_11133751del, NC_000006.12:g.11133751del, NC_000006.12:g.11133751dup, NC_000006.12:g.11133750_11133751dup, NC_000006.12:g.11133749_11133751dup, NC_000006.11:g.11133982_11133984del, NC_000006.11:g.11133983_11133984del, NC_000006.11:g.11133984del, NC_000006.11:g.11133984dup, NC_000006.11:g.11133983_11133984dup, NC_000006.11:g.11133982_11133984dup
6.
rs1491278798 has merged into rs138712581 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GG>-,G,GGG,GGGG,GGGGG
[Show Flanks]
- Chromosome:
- 6:11129086
(GRCh38)
6:11129319
(GRCh37)
- Canonical SPDI:
- NC_000006.12:11129078:GGGGGGGGG:GGGGGGG,NC_000006.12:11129078:GGGGGGGGG:GGGGGGGG,NC_000006.12:11129078:GGGGGGGGG:GGGGGGGGGG,NC_000006.12:11129078:GGGGGGGGG:GGGGGGGGGGG,NC_000006.12:11129078:GGGGGGGGG:GGGGGGGGGGGG
- Gene:
- SMIM13 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
7.
rs1491222442 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 6:11117747
(GRCh38)
6:11117981
(GRCh37)
- Canonical SPDI:
- NC_000006.12:11117747::A
- Gene:
- SMIM13 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000008/1
(GnomAD)
- HGVS:
8.
rs1491195892 has merged into rs561151019 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTTTTTGTTTTTTTTTACAGAATATTGTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 6:11117760
(GRCh38)
6:11117993
(GRCh37)
- Canonical SPDI:
- NC_000006.12:11117746:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:11117746:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:11117746:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:11117746:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:11117746:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:11117746:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000006.12:11117746:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000006.12:11117746:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000006.12:11117746:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:11117746:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTACAGAATATTGTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:11117746:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- SMIM13 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.025/1
(GENOME_DK)
- HGVS:
NC_000006.12:g.11117760_11117761del, NC_000006.12:g.11117761del, NC_000006.12:g.11117761dup, NC_000006.12:g.11117760_11117761dup, NC_000006.12:g.11117759_11117761dup, NC_000006.12:g.11117758_11117761dup, NC_000006.12:g.11117757_11117761dup, NC_000006.12:g.11117756_11117761dup, NC_000006.12:g.11117755_11117761dup, NC_000006.12:g.11117747_11117761T[27]GTTTTTTTTTACAGAATATTGTTTTTTTTTTTTTTTTTTTTT[1], NC_000006.12:g.11117761_11117762insTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.11117993_11117994del, NC_000006.11:g.11117994del, NC_000006.11:g.11117994dup, NC_000006.11:g.11117993_11117994dup, NC_000006.11:g.11117992_11117994dup, NC_000006.11:g.11117991_11117994dup, NC_000006.11:g.11117990_11117994dup, NC_000006.11:g.11117989_11117994dup, NC_000006.11:g.11117988_11117994dup, NC_000006.11:g.11117980_11117994T[27]GTTTTTTTTTACAGAATATTGTTTTTTTTTTTTTTTTTTTTT[1], NC_000006.11:g.11117994_11117995insTTTTTTTTTTTTTTTTTTT
10.
rs1491127227 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 6:11133739
(GRCh38)
6:11133973
(GRCh37)
- Canonical SPDI:
- NC_000006.12:11133739::G
- Gene:
- SMIM13 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000011/1
(GnomAD)
- HGVS:
11.
rs1491101347 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CTT
[Show Flanks]
- Chromosome:
- 6:11116983
(GRCh38)
6:11117217
(GRCh37)
- Canonical SPDI:
- NC_000006.12:11116983:TT:TTCTT
- Gene:
- SMIM13 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TTCTT=0./0
(
ALFA)
TTC=0.00013/6
(GnomAD)
- HGVS:
12.
rs1491021922 has merged into rs34260357 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA
[Show Flanks]
- Chromosome:
- 6:11125309
(GRCh38)
6:11125542
(GRCh37)
- Canonical SPDI:
- NC_000006.12:11125294:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:11125294:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:11125294:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:11125294:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:11125294:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:11125294:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000006.12:11125294:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000006.12:11125294:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:11125294:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:11125294:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- SMIM13 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAA=0./0
(
ALFA)
-=0.25/2
(KOREAN)
-=0.5/20
(GENOME_DK)
- HGVS:
NC_000006.12:g.11125309_11125313del, NC_000006.12:g.11125310_11125313del, NC_000006.12:g.11125311_11125313del, NC_000006.12:g.11125312_11125313del, NC_000006.12:g.11125313del, NC_000006.12:g.11125313dup, NC_000006.12:g.11125312_11125313dup, NC_000006.12:g.11125311_11125313dup, NC_000006.12:g.11125310_11125313dup, NC_000006.12:g.11125309_11125313dup, NC_000006.11:g.11125542_11125546del, NC_000006.11:g.11125543_11125546del, NC_000006.11:g.11125544_11125546del, NC_000006.11:g.11125545_11125546del, NC_000006.11:g.11125546del, NC_000006.11:g.11125546dup, NC_000006.11:g.11125545_11125546dup, NC_000006.11:g.11125544_11125546dup, NC_000006.11:g.11125543_11125546dup, NC_000006.11:g.11125542_11125546dup
13.
rs1490967155 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 6:11120204
(GRCh38)
6:11120437
(GRCh37)
- Canonical SPDI:
- NC_000006.12:11120203:G:A
- Gene:
- SMIM13 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000011/3
(TOPMED)
- HGVS:
14.
rs1490901203 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 6:11125393
(GRCh38)
6:11125626
(GRCh37)
- Canonical SPDI:
- NC_000006.12:11125392:T:C,NC_000006.12:11125392:T:G
- Gene:
- SMIM13 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000015/2
(GnomAD)
G=0.000546/1
(Korea1K)
C=0.016085/47
(KOREAN)
- HGVS:
15.
rs1490745425 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 6:11103866
(GRCh38)
6:11104099
(GRCh37)
- Canonical SPDI:
- NC_000006.12:11103865:C:T
- Gene:
- SMIM13 (Varview), ERVFRD-1 (Varview)
- Functional Consequence:
- coding_sequence_variant,stop_gained,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
16.
rs1490634484 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- A>-,AA
[Show Flanks]
- Chromosome:
- 6:11094473
(GRCh38)
6:11094706
(GRCh37)
- Canonical SPDI:
- NC_000006.12:11094472:AAAAAAA:AAAAAA,NC_000006.12:11094472:AAAAAAA:AAAAAAAA
- Gene:
- SMIM13 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAA=0.000054/1
(
ALFA)
-=0.000019/5
(TOPMED)
-=0.000223/1
(Estonian)
- HGVS:
17.
rs1490541423 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 6:11132086
(GRCh38)
6:11132319
(GRCh37)
- Canonical SPDI:
- NC_000006.12:11132085:G:A
- Gene:
- SMIM13 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000071/1
(
ALFA)
A=0.000014/2
(GnomAD)
- HGVS:
18.
rs1490464466 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 6:11112283
(GRCh38)
6:11112516
(GRCh37)
- Canonical SPDI:
- NC_000006.12:11112282:G:A
- Gene:
- SMIM13 (Varview), ERVFRD-1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000084/1
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
A=0.000342/1
(KOREAN)
A=0.000354/6
(TOMMO)
- HGVS:
19.
rs1490407959 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GAC>-
[Show Flanks]
- Chromosome:
- 6:11135598
(GRCh38)
6:11135831
(GRCh37)
- Canonical SPDI:
- NC_000006.12:11135597:GAC:
- Gene:
- SMIM13 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.000066/1
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000223/1
(Estonian)
- HGVS:
20.
rs1490380684 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 6:11100455
(GRCh38)
6:11100688
(GRCh37)
- Canonical SPDI:
- NC_000006.12:11100454:C:T
- Gene:
- SMIM13 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS: