Links from Gene
Items: 1 to 20 of 9399
1.
rs1491543608 has merged into rs765766688 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 12:50161881
(GRCh38)
12:50555664
(GRCh37)
- Canonical SPDI:
- NC_000012.12:50161869:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000012.12:50161869:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:50161869:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:50161869:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:50161869:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:50161869:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:50161869:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:50161869:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000012.12:50161869:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000012.12:50161869:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000012.12:50161869:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:50161869:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:50161869:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:50161869:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:50161869:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:50161869:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:50161869:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:50161869:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:50161869:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:50161869:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:50161869:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:50161869:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:50161869:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:50161869:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:50161869:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:50161869:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:50161869:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:50161869:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- CERS5 (Varview), LOC124902931 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.35/14
(GENOME_DK)
- HGVS:
NC_000012.12:g.50161881_50161892del, NC_000012.12:g.50161882_50161892del, NC_000012.12:g.50161883_50161892del, NC_000012.12:g.50161884_50161892del, NC_000012.12:g.50161886_50161892del, NC_000012.12:g.50161887_50161892del, NC_000012.12:g.50161888_50161892del, NC_000012.12:g.50161889_50161892del, NC_000012.12:g.50161890_50161892del, NC_000012.12:g.50161891_50161892del, NC_000012.12:g.50161892del, NC_000012.12:g.50161892dup, NC_000012.12:g.50161891_50161892dup, NC_000012.12:g.50161890_50161892dup, NC_000012.12:g.50161889_50161892dup, NC_000012.12:g.50161888_50161892dup, NC_000012.12:g.50161887_50161892dup, NC_000012.12:g.50161886_50161892dup, NC_000012.12:g.50161885_50161892dup, NC_000012.12:g.50161884_50161892dup, NC_000012.12:g.50161883_50161892dup, NC_000012.12:g.50161882_50161892dup, NC_000012.12:g.50161880_50161892dup, NC_000012.12:g.50161877_50161892dup, NC_000012.12:g.50161872_50161892dup, NC_000012.12:g.50161892_50161893insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.50161892_50161893insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.50161892_50161893insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.50555664_50555675del, NC_000012.11:g.50555665_50555675del, NC_000012.11:g.50555666_50555675del, NC_000012.11:g.50555667_50555675del, NC_000012.11:g.50555669_50555675del, NC_000012.11:g.50555670_50555675del, NC_000012.11:g.50555671_50555675del, NC_000012.11:g.50555672_50555675del, NC_000012.11:g.50555673_50555675del, NC_000012.11:g.50555674_50555675del, NC_000012.11:g.50555675del, NC_000012.11:g.50555675dup, NC_000012.11:g.50555674_50555675dup, NC_000012.11:g.50555673_50555675dup, NC_000012.11:g.50555672_50555675dup, NC_000012.11:g.50555671_50555675dup, NC_000012.11:g.50555670_50555675dup, NC_000012.11:g.50555669_50555675dup, NC_000012.11:g.50555668_50555675dup, NC_000012.11:g.50555667_50555675dup, NC_000012.11:g.50555666_50555675dup, NC_000012.11:g.50555665_50555675dup, NC_000012.11:g.50555663_50555675dup, NC_000012.11:g.50555660_50555675dup, NC_000012.11:g.50555655_50555675dup, NC_000012.11:g.50555675_50555676insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.50555675_50555676insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.50555675_50555676insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
2.
rs1491523560 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 12:50164999
(GRCh38)
12:50558782
(GRCh37)
- Canonical SPDI:
- NC_000012.12:50164998:CT:
- Gene:
- CERS5 (Varview), LOC124902931 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000056/7
(GnomAD)
- HGVS:
3.
rs1491513738 has merged into rs58167504 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,A,AAA,AAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 12:50165453
(GRCh38)
12:50559236
(GRCh37)
- Canonical SPDI:
- NC_000012.12:50165441:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000012.12:50165441:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:50165441:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:50165441:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:50165441:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000012.12:50165441:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000012.12:50165441:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000012.12:50165441:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- CERS5 (Varview), LOC124902931 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAA=0./0
(
ALFA)
-=0.2802/1403
(1000Genomes)
- HGVS:
NC_000012.12:g.50165453_50165454del, NC_000012.12:g.50165454del, NC_000012.12:g.50165454dup, NC_000012.12:g.50165453_50165454dup, NC_000012.12:g.50165450_50165454dup, NC_000012.12:g.50165449_50165454dup, NC_000012.12:g.50165448_50165454dup, NC_000012.12:g.50165454_50165455insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.50559236_50559237del, NC_000012.11:g.50559237del, NC_000012.11:g.50559237dup, NC_000012.11:g.50559236_50559237dup, NC_000012.11:g.50559233_50559237dup, NC_000012.11:g.50559232_50559237dup, NC_000012.11:g.50559231_50559237dup, NC_000012.11:g.50559237_50559238insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, XR_007063304.1:n.920_921del, XR_007063304.1:n.921del, XR_007063304.1:n.921dup, XR_007063304.1:n.920_921dup, XR_007063304.1:n.917_921dup, XR_007063304.1:n.916_921dup, XR_007063304.1:n.915_921dup, XR_007063304.1:n.921_922insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, XR_007063305.1:n.862_863del, XR_007063305.1:n.863del, XR_007063305.1:n.863dup, XR_007063305.1:n.862_863dup, XR_007063305.1:n.859_863dup, XR_007063305.1:n.858_863dup, XR_007063305.1:n.857_863dup, XR_007063305.1:n.863_864insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
4.
rs1491511187 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 12:50165447
(GRCh38)
12:50559231
(GRCh37)
- Canonical SPDI:
- NC_000012.12:50165447::G
- Gene:
- CERS5 (Varview), LOC124902931 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000142/2
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
5.
rs1491484435 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A,AA,AAAAAA,AAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,TAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 12:50161776
(GRCh38)
12:50555560
(GRCh37)
- Canonical SPDI:
- NC_000012.12:50161776:AAAAAAA:AAAAAAAA,NC_000012.12:50161776:AAAAAAA:AAAAAAAAA,NC_000012.12:50161776:AAAAAAA:AAAAAAAAAAAAA,NC_000012.12:50161776:AAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:50161776:AAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000012.12:50161776:AAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000012.12:50161776:AAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:50161776:AAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:50161776:AAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:50161776:AAAAAAA:AAAAAAATAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- CERS5 (Varview), LOC124902931 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAA=0./0
(
ALFA)
AA=0./0
(Korea1K)
- HGVS:
NC_000012.12:g.50161783dup, NC_000012.12:g.50161782_50161783dup, NC_000012.12:g.50161778_50161783dup, NC_000012.12:g.50161777_50161783dup, NC_000012.12:g.50161783_50161784insAAAAAAAAAAAAA, NC_000012.12:g.50161783_50161784insAAAAAAAAAAAAAA, NC_000012.12:g.50161783_50161784insAAAAAAAAAAAAAAA, NC_000012.12:g.50161783_50161784insAAAAAAAAAAAAAAAA, NC_000012.12:g.50161783_50161784insAAAAAAAAAAAAAAAAAAAA, NC_000012.12:g.50161777_50161783A[7]TAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000012.11:g.50555566dup, NC_000012.11:g.50555565_50555566dup, NC_000012.11:g.50555561_50555566dup, NC_000012.11:g.50555560_50555566dup, NC_000012.11:g.50555566_50555567insAAAAAAAAAAAAA, NC_000012.11:g.50555566_50555567insAAAAAAAAAAAAAA, NC_000012.11:g.50555566_50555567insAAAAAAAAAAAAAAA, NC_000012.11:g.50555566_50555567insAAAAAAAAAAAAAAAA, NC_000012.11:g.50555566_50555567insAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.50555560_50555566A[7]TAAAAAAAAAAAAAAAAAAAAAAAA[1]
6.
rs1491459154 has merged into rs59606341 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 12:50166332
(GRCh38)
12:50560115
(GRCh37)
- Canonical SPDI:
- NC_000012.12:50166323:AAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000012.12:50166323:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000012.12:50166323:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000012.12:50166323:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000012.12:50166323:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:50166323:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:50166323:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:50166323:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:50166323:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:50166323:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:50166323:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000012.12:50166323:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000012.12:50166323:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000012.12:50166323:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:50166323:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:50166323:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:50166323:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:50166323:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:50166323:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- CERS5 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAA=0./0
(
ALFA)
AAAA=0.266/1332
(1000Genomes)
- HGVS:
NC_000012.12:g.50166332_50166343del, NC_000012.12:g.50166333_50166343del, NC_000012.12:g.50166334_50166343del, NC_000012.12:g.50166335_50166343del, NC_000012.12:g.50166336_50166343del, NC_000012.12:g.50166337_50166343del, NC_000012.12:g.50166338_50166343del, NC_000012.12:g.50166339_50166343del, NC_000012.12:g.50166340_50166343del, NC_000012.12:g.50166341_50166343del, NC_000012.12:g.50166342_50166343del, NC_000012.12:g.50166343del, NC_000012.12:g.50166343dup, NC_000012.12:g.50166342_50166343dup, NC_000012.12:g.50166340_50166343dup, NC_000012.12:g.50166339_50166343dup, NC_000012.12:g.50166337_50166343dup, NC_000012.12:g.50166335_50166343dup, NC_000012.12:g.50166332_50166343dup, NC_000012.11:g.50560115_50560126del, NC_000012.11:g.50560116_50560126del, NC_000012.11:g.50560117_50560126del, NC_000012.11:g.50560118_50560126del, NC_000012.11:g.50560119_50560126del, NC_000012.11:g.50560120_50560126del, NC_000012.11:g.50560121_50560126del, NC_000012.11:g.50560122_50560126del, NC_000012.11:g.50560123_50560126del, NC_000012.11:g.50560124_50560126del, NC_000012.11:g.50560125_50560126del, NC_000012.11:g.50560126del, NC_000012.11:g.50560126dup, NC_000012.11:g.50560125_50560126dup, NC_000012.11:g.50560123_50560126dup, NC_000012.11:g.50560122_50560126dup, NC_000012.11:g.50560120_50560126dup, NC_000012.11:g.50560118_50560126dup, NC_000012.11:g.50560115_50560126dup
8.
rs1491449646 has merged into rs202197775 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 12:50153282
(GRCh38)
12:50547065
(GRCh37)
- Canonical SPDI:
- NC_000012.12:50153269:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:50153269:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:50153269:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:50153269:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:50153269:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:50153269:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:50153269:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000012.12:50153269:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000012.12:50153269:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000012.12:50153269:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:50153269:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:50153269:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:50153269:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:50153269:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:50153269:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:50153269:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:50153269:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:50153269:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:50153269:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:50153269:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:50153269:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:50153269:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:50153269:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:50153269:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:50153269:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:50153269:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:50153269:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:50153269:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:50153269:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:50153269:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:50153269:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:50153269:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- CERS5 (Varview), LOC124902931 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTT=0./0
(
ALFA)
TTTTTTTTTT=0./0
(GENOME_DK)
TTTTTTTTTTT=0.0246/123
(1000Genomes)
- HGVS:
NC_000012.12:g.50153282_50153296del, NC_000012.12:g.50153284_50153296del, NC_000012.12:g.50153285_50153296del, NC_000012.12:g.50153286_50153296del, NC_000012.12:g.50153287_50153296del, NC_000012.12:g.50153288_50153296del, NC_000012.12:g.50153289_50153296del, NC_000012.12:g.50153290_50153296del, NC_000012.12:g.50153291_50153296del, NC_000012.12:g.50153292_50153296del, NC_000012.12:g.50153293_50153296del, NC_000012.12:g.50153294_50153296del, NC_000012.12:g.50153295_50153296del, NC_000012.12:g.50153296del, NC_000012.12:g.50153296dup, NC_000012.12:g.50153295_50153296dup, NC_000012.12:g.50153294_50153296dup, NC_000012.12:g.50153293_50153296dup, NC_000012.12:g.50153292_50153296dup, NC_000012.12:g.50153291_50153296dup, NC_000012.12:g.50153290_50153296dup, NC_000012.12:g.50153289_50153296dup, NC_000012.12:g.50153288_50153296dup, NC_000012.12:g.50153287_50153296dup, NC_000012.12:g.50153286_50153296dup, NC_000012.12:g.50153285_50153296dup, NC_000012.12:g.50153284_50153296dup, NC_000012.12:g.50153283_50153296dup, NC_000012.12:g.50153282_50153296dup, NC_000012.12:g.50153276_50153296dup, NC_000012.12:g.50153296_50153297insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.50153296_50153297insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.50547065_50547079del, NC_000012.11:g.50547067_50547079del, NC_000012.11:g.50547068_50547079del, NC_000012.11:g.50547069_50547079del, NC_000012.11:g.50547070_50547079del, NC_000012.11:g.50547071_50547079del, NC_000012.11:g.50547072_50547079del, NC_000012.11:g.50547073_50547079del, NC_000012.11:g.50547074_50547079del, NC_000012.11:g.50547075_50547079del, NC_000012.11:g.50547076_50547079del, NC_000012.11:g.50547077_50547079del, NC_000012.11:g.50547078_50547079del, NC_000012.11:g.50547079del, NC_000012.11:g.50547079dup, NC_000012.11:g.50547078_50547079dup, NC_000012.11:g.50547077_50547079dup, NC_000012.11:g.50547076_50547079dup, NC_000012.11:g.50547075_50547079dup, NC_000012.11:g.50547074_50547079dup, NC_000012.11:g.50547073_50547079dup, NC_000012.11:g.50547072_50547079dup, NC_000012.11:g.50547071_50547079dup, NC_000012.11:g.50547070_50547079dup, NC_000012.11:g.50547069_50547079dup, NC_000012.11:g.50547068_50547079dup, NC_000012.11:g.50547067_50547079dup, NC_000012.11:g.50547066_50547079dup, NC_000012.11:g.50547065_50547079dup, NC_000012.11:g.50547059_50547079dup, NC_000012.11:g.50547079_50547080insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.50547079_50547080insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
10.
rs1491422050 has merged into rs34463989 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAA>-,AA,AAA,AAAAA
[Show Flanks]
- Chromosome:
- 12:50145677
(GRCh38)
12:50539460
(GRCh37)
- Canonical SPDI:
- NC_000012.12:50145670:AAAAAAAAAA:AAAAAA,NC_000012.12:50145670:AAAAAAAAAA:AAAAAAAA,NC_000012.12:50145670:AAAAAAAAAA:AAAAAAAAA,NC_000012.12:50145670:AAAAAAAAAA:AAAAAAAAAAA
- Gene:
- CERS5 (Varview), LOC124902931 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAA=0./0
(
ALFA)
-=0.000011/3
(TOPMED)
-=0.133333/80
(NorthernSweden)
-=0.178172/382
(1000Genomes)
- HGVS:
11.
rs1491406637 has merged into rs11388385 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 12:50158072
(GRCh38)
12:50551855
(GRCh37)
- Canonical SPDI:
- NC_000012.12:50158060:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000012.12:50158060:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:50158060:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:50158060:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:50158060:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:50158060:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:50158060:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:50158060:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000012.12:50158060:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000012.12:50158060:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000012.12:50158060:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000012.12:50158060:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:50158060:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:50158060:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:50158060:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:50158060:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:50158060:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:50158060:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:50158060:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:50158060:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:50158060:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:50158060:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:50158060:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:50158060:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:50158060:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- CERS5 (Varview), LOC124902931 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAA=0./0
(
ALFA)
-=0.000026/7
(TOPMED)
- HGVS:
NC_000012.12:g.50158072_50158084del, NC_000012.12:g.50158073_50158084del, NC_000012.12:g.50158074_50158084del, NC_000012.12:g.50158075_50158084del, NC_000012.12:g.50158076_50158084del, NC_000012.12:g.50158077_50158084del, NC_000012.12:g.50158078_50158084del, NC_000012.12:g.50158079_50158084del, NC_000012.12:g.50158080_50158084del, NC_000012.12:g.50158081_50158084del, NC_000012.12:g.50158082_50158084del, NC_000012.12:g.50158083_50158084del, NC_000012.12:g.50158084del, NC_000012.12:g.50158084dup, NC_000012.12:g.50158083_50158084dup, NC_000012.12:g.50158082_50158084dup, NC_000012.12:g.50158081_50158084dup, NC_000012.12:g.50158080_50158084dup, NC_000012.12:g.50158079_50158084dup, NC_000012.12:g.50158078_50158084dup, NC_000012.12:g.50158077_50158084dup, NC_000012.12:g.50158076_50158084dup, NC_000012.12:g.50158069_50158084dup, NC_000012.12:g.50158084_50158085insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.12:g.50158084_50158085insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.50551855_50551867del, NC_000012.11:g.50551856_50551867del, NC_000012.11:g.50551857_50551867del, NC_000012.11:g.50551858_50551867del, NC_000012.11:g.50551859_50551867del, NC_000012.11:g.50551860_50551867del, NC_000012.11:g.50551861_50551867del, NC_000012.11:g.50551862_50551867del, NC_000012.11:g.50551863_50551867del, NC_000012.11:g.50551864_50551867del, NC_000012.11:g.50551865_50551867del, NC_000012.11:g.50551866_50551867del, NC_000012.11:g.50551867del, NC_000012.11:g.50551867dup, NC_000012.11:g.50551866_50551867dup, NC_000012.11:g.50551865_50551867dup, NC_000012.11:g.50551864_50551867dup, NC_000012.11:g.50551863_50551867dup, NC_000012.11:g.50551862_50551867dup, NC_000012.11:g.50551861_50551867dup, NC_000012.11:g.50551860_50551867dup, NC_000012.11:g.50551859_50551867dup, NC_000012.11:g.50551852_50551867dup, NC_000012.11:g.50551867_50551868insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.50551867_50551868insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
14.
rs1491394074 has merged into rs149757474 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AGAGAG>-,AG,AGAG,AGAGAGAG
[Show Flanks]
- Chromosome:
- 12:50135201
(GRCh38)
12:50528984
(GRCh37)
- Canonical SPDI:
- NC_000012.12:50135194:AGAGAGAGAGAG:AGAGAG,NC_000012.12:50135194:AGAGAGAGAGAG:AGAGAGAG,NC_000012.12:50135194:AGAGAGAGAGAG:AGAGAGAGAG,NC_000012.12:50135194:AGAGAGAGAGAG:AGAGAGAGAGAGAG
- Gene:
- CERS5 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AGAGAGAG=0./0
(
ALFA)
-=0.01445/22
(Korea1K)
-=0.03522/472
(TOMMO)
-=0.08219/36
(NorthernSweden)
- HGVS:
15.
rs1491342740 has merged into rs752634104 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAA>-,AAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 12:50131563
(GRCh38)
12:50525346
(GRCh37)
- Canonical SPDI:
- NC_000012.12:50131558:AAAAAAAAAAAAAAAAAAA:AAAA,NC_000012.12:50131558:AAAAAAAAAAAAAAAAAAA:AAAAAAA,NC_000012.12:50131558:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000012.12:50131558:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000012.12:50131558:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:50131558:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:50131558:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:50131558:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:50131558:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:50131558:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000012.12:50131558:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000012.12:50131558:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000012.12:50131558:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:50131558:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:50131558:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:50131558:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:50131558:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:50131558:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:50131558:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:50131558:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:50131558:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:50131558:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:50131558:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:50131558:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:50131558:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- CERS5 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAA=0./0
(
ALFA)
-=0.2/8
(GENOME_DK)
- HGVS:
NC_000012.12:g.50131563_50131577del, NC_000012.12:g.50131566_50131577del, NC_000012.12:g.50131569_50131577del, NC_000012.12:g.50131570_50131577del, NC_000012.12:g.50131571_50131577del, NC_000012.12:g.50131573_50131577del, NC_000012.12:g.50131574_50131577del, NC_000012.12:g.50131575_50131577del, NC_000012.12:g.50131576_50131577del, NC_000012.12:g.50131577del, NC_000012.12:g.50131577dup, NC_000012.12:g.50131576_50131577dup, NC_000012.12:g.50131575_50131577dup, NC_000012.12:g.50131574_50131577dup, NC_000012.12:g.50131573_50131577dup, NC_000012.12:g.50131572_50131577dup, NC_000012.12:g.50131571_50131577dup, NC_000012.12:g.50131570_50131577dup, NC_000012.12:g.50131569_50131577dup, NC_000012.12:g.50131568_50131577dup, NC_000012.12:g.50131567_50131577dup, NC_000012.12:g.50131566_50131577dup, NC_000012.12:g.50131565_50131577dup, NC_000012.12:g.50131564_50131577dup, NC_000012.12:g.50131561_50131577dup, NC_000012.11:g.50525346_50525360del, NC_000012.11:g.50525349_50525360del, NC_000012.11:g.50525352_50525360del, NC_000012.11:g.50525353_50525360del, NC_000012.11:g.50525354_50525360del, NC_000012.11:g.50525356_50525360del, NC_000012.11:g.50525357_50525360del, NC_000012.11:g.50525358_50525360del, NC_000012.11:g.50525359_50525360del, NC_000012.11:g.50525360del, NC_000012.11:g.50525360dup, NC_000012.11:g.50525359_50525360dup, NC_000012.11:g.50525358_50525360dup, NC_000012.11:g.50525357_50525360dup, NC_000012.11:g.50525356_50525360dup, NC_000012.11:g.50525355_50525360dup, NC_000012.11:g.50525354_50525360dup, NC_000012.11:g.50525353_50525360dup, NC_000012.11:g.50525352_50525360dup, NC_000012.11:g.50525351_50525360dup, NC_000012.11:g.50525350_50525360dup, NC_000012.11:g.50525349_50525360dup, NC_000012.11:g.50525348_50525360dup, NC_000012.11:g.50525347_50525360dup, NC_000012.11:g.50525344_50525360dup
16.
rs1491324759 has merged into rs11388385 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 12:50158072
(GRCh38)
12:50551855
(GRCh37)
- Canonical SPDI:
- NC_000012.12:50158060:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000012.12:50158060:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:50158060:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:50158060:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:50158060:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:50158060:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:50158060:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:50158060:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000012.12:50158060:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000012.12:50158060:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000012.12:50158060:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000012.12:50158060:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:50158060:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:50158060:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:50158060:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:50158060:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:50158060:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:50158060:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:50158060:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:50158060:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:50158060:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:50158060:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:50158060:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:50158060:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:50158060:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- CERS5 (Varview), LOC124902931 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAA=0./0
(
ALFA)
-=0.000026/7
(TOPMED)
- HGVS:
NC_000012.12:g.50158072_50158084del, NC_000012.12:g.50158073_50158084del, NC_000012.12:g.50158074_50158084del, NC_000012.12:g.50158075_50158084del, NC_000012.12:g.50158076_50158084del, NC_000012.12:g.50158077_50158084del, NC_000012.12:g.50158078_50158084del, NC_000012.12:g.50158079_50158084del, NC_000012.12:g.50158080_50158084del, NC_000012.12:g.50158081_50158084del, NC_000012.12:g.50158082_50158084del, NC_000012.12:g.50158083_50158084del, NC_000012.12:g.50158084del, NC_000012.12:g.50158084dup, NC_000012.12:g.50158083_50158084dup, NC_000012.12:g.50158082_50158084dup, NC_000012.12:g.50158081_50158084dup, NC_000012.12:g.50158080_50158084dup, NC_000012.12:g.50158079_50158084dup, NC_000012.12:g.50158078_50158084dup, NC_000012.12:g.50158077_50158084dup, NC_000012.12:g.50158076_50158084dup, NC_000012.12:g.50158069_50158084dup, NC_000012.12:g.50158084_50158085insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.12:g.50158084_50158085insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.50551855_50551867del, NC_000012.11:g.50551856_50551867del, NC_000012.11:g.50551857_50551867del, NC_000012.11:g.50551858_50551867del, NC_000012.11:g.50551859_50551867del, NC_000012.11:g.50551860_50551867del, NC_000012.11:g.50551861_50551867del, NC_000012.11:g.50551862_50551867del, NC_000012.11:g.50551863_50551867del, NC_000012.11:g.50551864_50551867del, NC_000012.11:g.50551865_50551867del, NC_000012.11:g.50551866_50551867del, NC_000012.11:g.50551867del, NC_000012.11:g.50551867dup, NC_000012.11:g.50551866_50551867dup, NC_000012.11:g.50551865_50551867dup, NC_000012.11:g.50551864_50551867dup, NC_000012.11:g.50551863_50551867dup, NC_000012.11:g.50551862_50551867dup, NC_000012.11:g.50551861_50551867dup, NC_000012.11:g.50551860_50551867dup, NC_000012.11:g.50551859_50551867dup, NC_000012.11:g.50551852_50551867dup, NC_000012.11:g.50551867_50551868insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.50551867_50551868insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
17.
rs1491311722 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CATATATATATATATA
[Show Flanks]
- Chromosome:
- 12:50156421
(GRCh38)
12:50550205
(GRCh37)
- Canonical SPDI:
- NC_000012.12:50156421:ATATATATATATATA:ATATATATATATATACATATATATATATATA
- Gene:
- CERS5 (Varview), LOC124902931 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
ATATATATATATATACATATATATATATATA=0./0
(
ALFA)
ATATATATATATATAC=0.000008/2
(TOPMED)
- HGVS:
19.
rs1491213193 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 12:50166323
(GRCh38)
12:50560106
(GRCh37)
- Canonical SPDI:
- NC_000012.12:50166322:CA:
- Gene:
- CERS5 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.00059/7
(
ALFA)
-=0.00006/1
(TOMMO)
- HGVS:
20.
rs1491205553 has merged into rs1165575166 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAA>-,AA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 12:50145151
(GRCh38)
12:50538934
(GRCh37)
- Canonical SPDI:
- NC_000012.12:50145137:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:50145137:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:50145137:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:50145137:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000012.12:50145137:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000012.12:50145137:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000012.12:50145137:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:50145137:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:50145137:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:50145137:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:50145137:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:50145137:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:50145137:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:50145137:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- CERS5 (Varview), LOC124902931 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAAAA=0./0
(
ALFA)
-=0.000042/11
(TOPMED)
- HGVS:
NC_000012.12:g.50145151_50145157del, NC_000012.12:g.50145153_50145157del, NC_000012.12:g.50145155_50145157del, NC_000012.12:g.50145156_50145157del, NC_000012.12:g.50145157del, NC_000012.12:g.50145157dup, NC_000012.12:g.50145156_50145157dup, NC_000012.12:g.50145155_50145157dup, NC_000012.12:g.50145154_50145157dup, NC_000012.12:g.50145153_50145157dup, NC_000012.12:g.50145152_50145157dup, NC_000012.12:g.50145149_50145157dup, NC_000012.12:g.50145142_50145157dup, NC_000012.12:g.50145139_50145157dup, NC_000012.11:g.50538934_50538940del, NC_000012.11:g.50538936_50538940del, NC_000012.11:g.50538938_50538940del, NC_000012.11:g.50538939_50538940del, NC_000012.11:g.50538940del, NC_000012.11:g.50538940dup, NC_000012.11:g.50538939_50538940dup, NC_000012.11:g.50538938_50538940dup, NC_000012.11:g.50538937_50538940dup, NC_000012.11:g.50538936_50538940dup, NC_000012.11:g.50538935_50538940dup, NC_000012.11:g.50538932_50538940dup, NC_000012.11:g.50538925_50538940dup, NC_000012.11:g.50538922_50538940dup