Links from Gene
Items: 1 to 20 of 1000
1.
rs1491557180 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->CC
[Show Flanks]
- Chromosome:
- 8:70645078
(GRCh38)
8:71557314
(GRCh37)
- Canonical SPDI:
- NC_000008.11:70645078::CC
- Gene:
- LACTB2 (Varview), LACTB2-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CC=0./0
(
ALFA)
CC=0.000004/1
(TOPMED)
CC=0.000007/1
(GnomAD)
- HGVS:
2.
rs1491491262 has merged into rs990900411 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,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,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 8:70668760
(GRCh38)
8:71580995
(GRCh37)
- Canonical SPDI:
- NC_000008.11:70668748:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000008.11:70668748:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000008.11:70668748:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000008.11:70668748:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000008.11:70668748:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000008.11:70668748:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000008.11:70668748:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000008.11:70668748:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000008.11:70668748:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000008.11:70668748:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000008.11:70668748:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000008.11:70668748:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:70668748:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:70668748:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:70668748:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:70668748:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:70668748:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:70668748:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:70668748:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:70668748:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:70668748:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:70668748:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:70668748:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:70668748:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:70668748:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:70668748:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:70668748:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:70668748:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:70668748:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:70668748:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:70668748:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:70668748:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:70668748:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:70668748:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:70668748:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:70668748:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:70668748:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:70668748:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:70668748:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:70668748:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:70668748:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:70668748:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:70668748:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:70668748:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:70668748:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:70668748:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:70668748:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:70668748:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:70668748:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:70668748:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:70668748:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:70668748:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:70668748:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:70668748:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:70668748:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- LACTB2 (Varview), XKR9 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000008.11:g.70668760_70668775del, NC_000008.11:g.70668761_70668775del, NC_000008.11:g.70668762_70668775del, NC_000008.11:g.70668763_70668775del, NC_000008.11:g.70668764_70668775del, NC_000008.11:g.70668765_70668775del, NC_000008.11:g.70668766_70668775del, NC_000008.11:g.70668767_70668775del, NC_000008.11:g.70668768_70668775del, NC_000008.11:g.70668769_70668775del, NC_000008.11:g.70668770_70668775del, NC_000008.11:g.70668771_70668775del, NC_000008.11:g.70668772_70668775del, NC_000008.11:g.70668773_70668775del, NC_000008.11:g.70668774_70668775del, NC_000008.11:g.70668775del, NC_000008.11:g.70668775dup, NC_000008.11:g.70668774_70668775dup, NC_000008.11:g.70668773_70668775dup, NC_000008.11:g.70668772_70668775dup, NC_000008.11:g.70668771_70668775dup, NC_000008.11:g.70668770_70668775dup, NC_000008.11:g.70668769_70668775dup, NC_000008.11:g.70668768_70668775dup, NC_000008.11:g.70668767_70668775dup, NC_000008.11:g.70668766_70668775dup, NC_000008.11:g.70668765_70668775dup, NC_000008.11:g.70668764_70668775dup, NC_000008.11:g.70668763_70668775dup, NC_000008.11:g.70668762_70668775dup, NC_000008.11:g.70668761_70668775dup, NC_000008.11:g.70668760_70668775dup, NC_000008.11:g.70668759_70668775dup, NC_000008.11:g.70668758_70668775dup, NC_000008.11:g.70668757_70668775dup, NC_000008.11:g.70668756_70668775dup, NC_000008.11:g.70668755_70668775dup, NC_000008.11:g.70668754_70668775dup, NC_000008.11:g.70668753_70668775dup, NC_000008.11:g.70668752_70668775dup, NC_000008.11:g.70668751_70668775dup, NC_000008.11:g.70668750_70668775dup, NC_000008.11:g.70668749_70668775dup, NC_000008.11:g.70668775_70668776insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.70668775_70668776insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.70668775_70668776insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.70668775_70668776insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.70668775_70668776insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.70668775_70668776insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.70668775_70668776insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.70668775_70668776insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.70668775_70668776insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.70668775_70668776insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.70668775_70668776insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.70668775_70668776insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.71580995_71581010del, NC_000008.10:g.71580996_71581010del, NC_000008.10:g.71580997_71581010del, NC_000008.10:g.71580998_71581010del, NC_000008.10:g.71580999_71581010del, NC_000008.10:g.71581000_71581010del, NC_000008.10:g.71581001_71581010del, NC_000008.10:g.71581002_71581010del, NC_000008.10:g.71581003_71581010del, NC_000008.10:g.71581004_71581010del, NC_000008.10:g.71581005_71581010del, NC_000008.10:g.71581006_71581010del, NC_000008.10:g.71581007_71581010del, NC_000008.10:g.71581008_71581010del, NC_000008.10:g.71581009_71581010del, NC_000008.10:g.71581010del, NC_000008.10:g.71581010dup, NC_000008.10:g.71581009_71581010dup, NC_000008.10:g.71581008_71581010dup, NC_000008.10:g.71581007_71581010dup, NC_000008.10:g.71581006_71581010dup, NC_000008.10:g.71581005_71581010dup, NC_000008.10:g.71581004_71581010dup, NC_000008.10:g.71581003_71581010dup, NC_000008.10:g.71581002_71581010dup, NC_000008.10:g.71581001_71581010dup, NC_000008.10:g.71581000_71581010dup, NC_000008.10:g.71580999_71581010dup, NC_000008.10:g.71580998_71581010dup, NC_000008.10:g.71580997_71581010dup, NC_000008.10:g.71580996_71581010dup, NC_000008.10:g.71580995_71581010dup, NC_000008.10:g.71580994_71581010dup, NC_000008.10:g.71580993_71581010dup, NC_000008.10:g.71580992_71581010dup, NC_000008.10:g.71580991_71581010dup, NC_000008.10:g.71580990_71581010dup, NC_000008.10:g.71580989_71581010dup, NC_000008.10:g.71580988_71581010dup, NC_000008.10:g.71580987_71581010dup, NC_000008.10:g.71580986_71581010dup, NC_000008.10:g.71580985_71581010dup, NC_000008.10:g.71580984_71581010dup, NC_000008.10:g.71581010_71581011insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.71581010_71581011insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.71581010_71581011insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.71581010_71581011insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.71581010_71581011insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.71581010_71581011insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.71581010_71581011insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.71581010_71581011insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.71581010_71581011insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.71581010_71581011insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.71581010_71581011insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.71581010_71581011insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
3.
rs1491307285 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 8:70668749
(GRCh38)
8:71580985
(GRCh37)
- Canonical SPDI:
- NC_000008.11:70668749::G
- Gene:
- LACTB2 (Varview), XKR9 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.00001/1
(GnomAD)
- HGVS:
4.
rs1491300099 has merged into rs36122235 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 8:70655230
(GRCh38)
8:71567465
(GRCh37)
- Canonical SPDI:
- NC_000008.11:70655220:TTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000008.11:70655220:TTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000008.11:70655220:TTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000008.11:70655220:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000008.11:70655220:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000008.11:70655220:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000008.11:70655220:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000008.11:70655220:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000008.11:70655220:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT
- Gene:
- LACTB2 (Varview), LACTB2-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTT=0./0
(
ALFA)
T=0.3209/190
(NorthernSweden)
T=0.375/15
(GENOME_DK)
- HGVS:
NC_000008.11:g.70655230_70655236del, NC_000008.11:g.70655231_70655236del, NC_000008.11:g.70655232_70655236del, NC_000008.11:g.70655233_70655236del, NC_000008.11:g.70655234_70655236del, NC_000008.11:g.70655235_70655236del, NC_000008.11:g.70655236del, NC_000008.11:g.70655236dup, NC_000008.11:g.70655233_70655236dup, NC_000008.10:g.71567465_71567471del, NC_000008.10:g.71567466_71567471del, NC_000008.10:g.71567467_71567471del, NC_000008.10:g.71567468_71567471del, NC_000008.10:g.71567469_71567471del, NC_000008.10:g.71567470_71567471del, NC_000008.10:g.71567471del, NC_000008.10:g.71567471dup, NC_000008.10:g.71567468_71567471dup
6.
rs1491249470 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 8:70669606
(GRCh38)
8:71581841
(GRCh37)
- Canonical SPDI:
- NC_000008.11:70669603:CTCT:CT
- Gene:
- LACTB2 (Varview), XKR9 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CTCT=0./0
(
ALFA)
-=0.000117/12
(GnomAD)
-=0.000156/1
(1000Genomes)
- HGVS:
7.
rs1491244174 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 8:70669664
(GRCh38)
8:71581899
(GRCh37)
- Canonical SPDI:
- NC_000008.11:70669663:AT:
- Gene:
- LACTB2 (Varview), XKR9 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
- HGVS:
8.
rs1491136163 has merged into rs11335556 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTT>-,TT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 8:70669673
(GRCh38)
8:71581908
(GRCh37)
- Canonical SPDI:
- NC_000008.11:70669664:TTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000008.11:70669664:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000008.11:70669664:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000008.11:70669664:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000008.11:70669664:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000008.11:70669664:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000008.11:70669664:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000008.11:70669664:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000008.11:70669664:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000008.11:70669664:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000008.11:70669664:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:70669664:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:70669664:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:70669664:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:70669664:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- LACTB2 (Varview), XKR9 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000008.11:g.70669673_70669684del, NC_000008.11:g.70669675_70669684del, NC_000008.11:g.70669677_70669684del, NC_000008.11:g.70669678_70669684del, NC_000008.11:g.70669680_70669684del, NC_000008.11:g.70669681_70669684del, NC_000008.11:g.70669682_70669684del, NC_000008.11:g.70669683_70669684del, NC_000008.11:g.70669684del, NC_000008.11:g.70669684dup, NC_000008.11:g.70669683_70669684dup, NC_000008.11:g.70669682_70669684dup, NC_000008.11:g.70669681_70669684dup, NC_000008.11:g.70669680_70669684dup, NC_000008.11:g.70669679_70669684dup, NC_000008.10:g.71581908_71581919del, NC_000008.10:g.71581910_71581919del, NC_000008.10:g.71581912_71581919del, NC_000008.10:g.71581913_71581919del, NC_000008.10:g.71581915_71581919del, NC_000008.10:g.71581916_71581919del, NC_000008.10:g.71581917_71581919del, NC_000008.10:g.71581918_71581919del, NC_000008.10:g.71581919del, NC_000008.10:g.71581919dup, NC_000008.10:g.71581918_71581919dup, NC_000008.10:g.71581917_71581919dup, NC_000008.10:g.71581916_71581919dup, NC_000008.10:g.71581915_71581919dup, NC_000008.10:g.71581914_71581919dup, XM_011517525.3:c.-682_-671del, XM_011517525.3:c.-680_-671del, XM_011517525.3:c.-678_-671del, XM_011517525.3:c.-677_-671del, XM_011517525.3:c.-675_-671del, XM_011517525.3:c.-674_-671del, XM_011517525.3:c.-673_-671del, XM_011517525.3:c.-672_-671del, XM_011517525.3:c.-671del, XM_011517525.3:c.-671dup, XM_011517525.3:c.-672_-671dup, XM_011517525.3:c.-673_-671dup, XM_011517525.3:c.-674_-671dup, XM_011517525.3:c.-675_-671dup, XM_011517525.3:c.-676_-671dup
9.
rs1491030030 has merged into rs560448122 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TATA>-,TA,TATATA,TATATATA
[Show Flanks]
- Chromosome:
- 8:70645061
(GRCh38)
8:71557296
(GRCh37)
- Canonical SPDI:
- NC_000008.11:70645050:TATATATATATATA:TATATATATA,NC_000008.11:70645050:TATATATATATATA:TATATATATATA,NC_000008.11:70645050:TATATATATATATA:TATATATATATATATA,NC_000008.11:70645050:TATATATATATATA:TATATATATATATATATA
- Gene:
- LACTB2 (Varview), LACTB2-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TATATATATATA=0./0
(
ALFA)
-=0.0006/3
(1000Genomes)
TA=0.2473/917
(TWINSUK)
TA=0.25558/985
(ALSPAC)
- HGVS:
10.
rs1491023182 has merged into rs35951740 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 8:70642514
(GRCh38)
8:71554749
(GRCh37)
- Canonical SPDI:
- NC_000008.11:70642504:TTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000008.11:70642504:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000008.11:70642504:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000008.11:70642504:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000008.11:70642504:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000008.11:70642504:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000008.11:70642504:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000008.11:70642504:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000008.11:70642504:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000008.11:70642504:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000008.11:70642504:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000008.11:70642504:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:70642504:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:70642504:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- LACTB2 (Varview), LACTB2-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.02349/14
(NorthernSweden)
-=0.086462/433
(1000Genomes)
- HGVS:
NC_000008.11:g.70642514_70642521del, NC_000008.11:g.70642516_70642521del, NC_000008.11:g.70642517_70642521del, NC_000008.11:g.70642518_70642521del, NC_000008.11:g.70642519_70642521del, NC_000008.11:g.70642520_70642521del, NC_000008.11:g.70642521del, NC_000008.11:g.70642521dup, NC_000008.11:g.70642520_70642521dup, NC_000008.11:g.70642519_70642521dup, NC_000008.11:g.70642518_70642521dup, NC_000008.11:g.70642517_70642521dup, NC_000008.11:g.70642516_70642521dup, NC_000008.11:g.70642510_70642521dup, NC_000008.10:g.71554749_71554756del, NC_000008.10:g.71554751_71554756del, NC_000008.10:g.71554752_71554756del, NC_000008.10:g.71554753_71554756del, NC_000008.10:g.71554754_71554756del, NC_000008.10:g.71554755_71554756del, NC_000008.10:g.71554756del, NC_000008.10:g.71554756dup, NC_000008.10:g.71554755_71554756dup, NC_000008.10:g.71554754_71554756dup, NC_000008.10:g.71554753_71554756dup, NC_000008.10:g.71554752_71554756dup, NC_000008.10:g.71554751_71554756dup, NC_000008.10:g.71554745_71554756dup
11.
rs1490976988 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 8:70664861
(GRCh38)
8:71577096
(GRCh37)
- Canonical SPDI:
- NC_000008.11:70664860:C:T
- Gene:
- LACTB2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000142/2
(
ALFA)
T=0.000014/2
(GnomAD)
T=0.000015/4
(TOPMED)
- HGVS:
12.
rs1490948185 has merged into rs35951740 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 8:70642514
(GRCh38)
8:71554749
(GRCh37)
- Canonical SPDI:
- NC_000008.11:70642504:TTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000008.11:70642504:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000008.11:70642504:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000008.11:70642504:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000008.11:70642504:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000008.11:70642504:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000008.11:70642504:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000008.11:70642504:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000008.11:70642504:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000008.11:70642504:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000008.11:70642504:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000008.11:70642504:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:70642504:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:70642504:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- LACTB2 (Varview), LACTB2-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.02349/14
(NorthernSweden)
-=0.086462/433
(1000Genomes)
- HGVS:
NC_000008.11:g.70642514_70642521del, NC_000008.11:g.70642516_70642521del, NC_000008.11:g.70642517_70642521del, NC_000008.11:g.70642518_70642521del, NC_000008.11:g.70642519_70642521del, NC_000008.11:g.70642520_70642521del, NC_000008.11:g.70642521del, NC_000008.11:g.70642521dup, NC_000008.11:g.70642520_70642521dup, NC_000008.11:g.70642519_70642521dup, NC_000008.11:g.70642518_70642521dup, NC_000008.11:g.70642517_70642521dup, NC_000008.11:g.70642516_70642521dup, NC_000008.11:g.70642510_70642521dup, NC_000008.10:g.71554749_71554756del, NC_000008.10:g.71554751_71554756del, NC_000008.10:g.71554752_71554756del, NC_000008.10:g.71554753_71554756del, NC_000008.10:g.71554754_71554756del, NC_000008.10:g.71554755_71554756del, NC_000008.10:g.71554756del, NC_000008.10:g.71554756dup, NC_000008.10:g.71554755_71554756dup, NC_000008.10:g.71554754_71554756dup, NC_000008.10:g.71554753_71554756dup, NC_000008.10:g.71554752_71554756dup, NC_000008.10:g.71554751_71554756dup, NC_000008.10:g.71554745_71554756dup
14.
rs1490554077 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 8:70639013
(GRCh38)
8:71551248
(GRCh37)
- Canonical SPDI:
- NC_000008.11:70639012:C:T
- Gene:
- LACTB2 (Varview), LACTB2-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
15.
rs1490551993 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 8:70665793
(GRCh38)
8:71578028
(GRCh37)
- Canonical SPDI:
- NC_000008.11:70665792:C:A
- Gene:
- LACTB2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000015/4
(TOPMED)
- HGVS:
16.
rs1490550348 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 8:70650526
(GRCh38)
8:71562761
(GRCh37)
- Canonical SPDI:
- NC_000008.11:70650525:T:A
- Gene:
- LACTB2 (Varview), LACTB2-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
17.
rs1490515071 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 8:70649291
(GRCh38)
8:71561526
(GRCh37)
- Canonical SPDI:
- NC_000008.11:70649290:C:T
- Gene:
- LACTB2 (Varview), LACTB2-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0./0
(KOREAN)
T=0.000014/2
(GnomAD)
T=0.000019/5
(TOPMED)
- HGVS:
18.
rs1490479424 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 8:70657467
(GRCh38)
8:71569702
(GRCh37)
- Canonical SPDI:
- NC_000008.11:70657466:G:A
- Gene:
- LACTB2 (Varview), LACTB2-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/1
(GnomAD)
A=0.000035/1
(TOMMO)
- HGVS:
19.
rs1490456418 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 8:70642147
(GRCh38)
8:71554382
(GRCh37)
- Canonical SPDI:
- NC_000008.11:70642146:C:A
- Gene:
- LACTB2 (Varview), LACTB2-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
20.
rs1490227739 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 8:70668048
(GRCh38)
8:71580283
(GRCh37)
- Canonical SPDI:
- NC_000008.11:70668047:C:G
- Gene:
- LACTB2 (Varview), XKR9 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS: