SNP Links for Gene (Select 105372255) - SNP

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Select item 14915777361.

rs1491577736 has merged into rs60054737 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCCCCCCC>-,CC,CCCCCC,CCCCCCC,CCCCCCCCC,CCCCCCCCCC,CCCCCCCCCCC,CCCCCCCCCCCC,CCCCCCCCCCCCC [Show Flanks]
Chromosome:: 19:6181817 (GRCh38)
19:6181828 (GRCh37)
Canonical SPDI:: NC_000019.10:6181813:CCCCCCCCCCC:CCC,NC_000019.10:6181813:CCCCCCCCCCC:CCCCC,NC_000019.10:6181813:CCCCCCCCCCC:CCCCCCCCC,NC_000019.10:6181813:CCCCCCCCCCC:CCCCCCCCCC,NC_000019.10:6181813:CCCCCCCCCCC:CCCCCCCCCCCC,NC_000019.10:6181813:CCCCCCCCCCC:CCCCCCCCCCCCC,NC_000019.10:6181813:CCCCCCCCCCC:CCCCCCCCCCCCCC,NC_000019.10:6181813:CCCCCCCCCCC:CCCCCCCCCCCCCCC,NC_000019.10:6181813:CCCCCCCCCCC:CCCCCCCCCCCCCCCC
Gene:: ACSBG2 (Varview), LOC105372255 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCC=0./0 (ALFA)
C=0.2833/1419 (1000Genomes)
HGVS:: NC_000019.10:g.6181817_6181824del, NC_000019.10:g.6181819_6181824del, NC_000019.10:g.6181823_6181824del, NC_000019.10:g.6181824del, NC_000019.10:g.6181824dup, NC_000019.10:g.6181823_6181824dup, NC_000019.10:g.6181822_6181824dup, NC_000019.10:g.6181821_6181824dup, NC_000019.10:g.6181820_6181824dup, NC_000019.9:g.6181828_6181835del, NC_000019.9:g.6181830_6181835del, NC_000019.9:g.6181834_6181835del, NC_000019.9:g.6181835del, NC_000019.9:g.6181835dup, NC_000019.9:g.6181834_6181835dup, NC_000019.9:g.6181833_6181835dup, NC_000019.9:g.6181832_6181835dup, NC_000019.9:g.6181831_6181835dup

Select item 14915699192.

rs1491569919 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 19:6163802 (GRCh38)
19:6163813 (GRCh37)
Canonical SPDI:: NC_000019.10:6163800:ACA:A
Gene:: ACSBG2 (Varview), LOC105372255 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000019.10:g.6163802_6163803del, NC_000019.9:g.6163813_6163814del

Select item 14915584573.

rs1491558457 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 19:6155789 (GRCh38)
19:6155800 (GRCh37)
Canonical SPDI:: NC_000019.10:6155788:CA:
Gene:: ACSBG2 (Varview), LOC105372255 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00034/4 (ALFA)
HGVS:: NC_000019.10:g.6155789_6155790del, NC_000019.9:g.6155800_6155801del

Select item 14915477924.

rs1491547792 [Homo sapiens]

Variant type:: DEL
Alleles:: TC>- [Show Flanks]
Chromosome:: 19:6135496 (GRCh38)
19:6135507 (GRCh37)
Canonical SPDI:: NC_000019.10:6135495:TC:
Gene:: ACSBG2 (Varview), LOC105372255 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_downstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.6135496_6135497del, NC_000019.9:g.6135507_6135508del

Select item 14915273995.

rs1491527399 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 19:6186058 (GRCh38)
19:6186069 (GRCh37)
Canonical SPDI:: NC_000019.10:6186057:CT:
Gene:: ACSBG2 (Varview), LOC105372255 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000674/8 (ALFA)
-=0.001093/7 (1000Genomes)
-=0.001156/306 (TOPMED)
-=0.001608/162 (GnomAD)
HGVS:: NC_000019.10:g.6186058_6186059del, NC_000019.9:g.6186069_6186070del

Select item 14915131116.

rs1491513111 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 19:6158061 (GRCh38)
19:6158073 (GRCh37)
Canonical SPDI:: NC_000019.10:6158061::C
Gene:: ACSBG2 (Varview), LOC105372255 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.00009/1 (GnomAD)
HGVS:: NC_000019.10:g.6158061_6158062insC, NC_000019.9:g.6158072_6158073insC

Select item 14915054127.

rs1491505412 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTAT,GTGTAT,GTGTGTGTGTGTTT [Show Flanks]
Chromosome:: 19:6166330 (GRCh38)
19:6166342 (GRCh37)
Canonical SPDI:: NC_000019.10:6166330:T:TGTAT,NC_000019.10:6166330:T:TGTGTAT,NC_000019.10:6166330:T:TGTGTGTGTGTGTTT
Gene:: ACSBG2 (Varview), LOC105372255 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTAT=0./0 (ALFA)
TGTGTA=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.6166331_6166332insGTAT, NC_000019.10:g.6166331TG[2]TAT[1], NC_000019.10:g.6166331TG[6]TTT[1], NC_000019.9:g.6166342_6166343insGTAT, NC_000019.9:g.6166342TG[2]TAT[1], NC_000019.9:g.6166342TG[6]TTT[1]

Select item 14914844208.

rs1491484420 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 19:6195965 (GRCh38)
19:6195976 (GRCh37)
Canonical SPDI:: NC_000019.10:6195964:AT:
Gene:: LOC105372255 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00081/15 (ALFA)
-=0.000177/3 (TOMMO)
-=0.000223/1 (Estonian)
-=0.000625/3 (1000Genomes)
-=0.000945/250 (TOPMED)
-=0.001/140 (GnomAD)
-=0.001079/4 (TWINSUK)
-=0.001557/6 (ALSPAC)
-=0.002004/2 (GoNL)
HGVS:: NC_000019.10:g.6195965_6195966del, NC_000019.9:g.6195976_6195977del

Select item 14914816529.

rs1491481652 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 19:6138468 (GRCh38)
19:6138480 (GRCh37)
Canonical SPDI:: NC_000019.10:6138468::A
Gene:: ACSBG2 (Varview), LOC105372255 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.005593/25 (ALFA)
A=0.01328/1649 (GnomAD)
A=0.019763/331 (TOMMO)
HGVS:: NC_000019.10:g.6138468_6138469insA, NC_000019.9:g.6138479_6138480insA

Select item 149146408810.

rs1491464088 [Homo sapiens]

Variant type:: INS
Alleles:: ->CGG [Show Flanks]
Chromosome:: 19:6138644 (GRCh38)
19:6138656 (GRCh37)
Canonical SPDI:: NC_000019.10:6138644::CGG
Gene:: ACSBG2 (Varview), LOC105372255 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CGG=0./0 (ALFA)
HGVS:: NC_000019.10:g.6138644_6138645insCGG, NC_000019.9:g.6138655_6138656insCGG

Select item 149143470911.

rs1491434709 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>- [Show Flanks]
Chromosome:: 19:6138469 (GRCh38)
19:6138480 (GRCh37)
Canonical SPDI:: NC_000019.10:6138467:GGG:G
Gene:: ACSBG2 (Varview), LOC105372255 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000337/4 (ALFA)
-=0.000142/4 (TOMMO)
-=0.001249/8 (1000Genomes)
-=0.001413/162 (GnomAD)
HGVS:: NC_000019.10:g.6138469_6138470del, NC_000019.9:g.6138480_6138481del

Select item 149142781012.

rs1491427810 has merged into rs201241898 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>-,GTGT [Show Flanks]
Chromosome:: 19:6133170 (GRCh38)
19:6133181 (GRCh37)
Canonical SPDI:: NC_000019.10:6133166:TGTGT:TGT,NC_000019.10:6133166:TGTGT:TGTGTGT
Gene:: LOC105372255 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGT=0.00318/46 (ALFA)
TG=0.01027/46 (Estonian)
TG=0.01303/13 (GoNL)
TG=0.01583/29 (Korea1K)
TG=0.01833/11 (NorthernSweden)
TG=0.02093/351 (TOMMO)
TG=0.1129/565 (1000Genomes)
HGVS:: NC_000019.10:g.6133168GT[1], NC_000019.10:g.6133168GT[3], NC_000019.9:g.6133179GT[1], NC_000019.9:g.6133179GT[3]

Select item 149142350313.

rs1491423503 has merged into rs1169472742 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTCTTAAATTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 19:6179310 (GRCh38)
19:6179321 (GRCh37)
Canonical SPDI:: NC_000019.10:6179293:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:6179293:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:6179293:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:6179293:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:6179293:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:6179293:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:6179293:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:6179293:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:6179293:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:6179293:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:6179293:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:6179293:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTCTTAAATTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:6179293:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:6179293:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:6179293:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:6179293:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:6179293:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:6179293:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:6179293:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:6179293:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ACSBG2 (Varview), LOC105372255 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.375/3 (KOREAN)
HGVS:: NC_000019.10:g.6179310_6179316del, NC_000019.10:g.6179312_6179316del, NC_000019.10:g.6179313_6179316del, NC_000019.10:g.6179314_6179316del, NC_000019.10:g.6179315_6179316del, NC_000019.10:g.6179316del, NC_000019.10:g.6179316dup, NC_000019.10:g.6179315_6179316dup, NC_000019.10:g.6179314_6179316dup, NC_000019.10:g.6179313_6179316dup, NC_000019.10:g.6179312_6179316dup, NC_000019.10:g.6179294_6179316T[28]ATTTTTTTTTTTTTTTTTTTCTTAAATTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000019.10:g.6179311_6179316dup, NC_000019.10:g.6179310_6179316dup, NC_000019.10:g.6179309_6179316dup, NC_000019.10:g.6179307_6179316dup, NC_000019.10:g.6179294_6179316dup, NC_000019.10:g.6179316_6179317insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.6179316_6179317insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.6179316_6179317insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.6179321_6179327del, NC_000019.9:g.6179323_6179327del, NC_000019.9:g.6179324_6179327del, NC_000019.9:g.6179325_6179327del, NC_000019.9:g.6179326_6179327del, NC_000019.9:g.6179327del, NC_000019.9:g.6179327dup, NC_000019.9:g.6179326_6179327dup, NC_000019.9:g.6179325_6179327dup, NC_000019.9:g.6179324_6179327dup, NC_000019.9:g.6179323_6179327dup, NC_000019.9:g.6179305_6179327T[28]ATTTTTTTTTTTTTTTTTTTCTTAAATTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000019.9:g.6179322_6179327dup, NC_000019.9:g.6179321_6179327dup, NC_000019.9:g.6179320_6179327dup, NC_000019.9:g.6179318_6179327dup, NC_000019.9:g.6179305_6179327dup, NC_000019.9:g.6179327_6179328insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.6179327_6179328insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.6179327_6179328insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149141255614.

rs1491412556 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 19:6138644 (GRCh38)
19:6138655 (GRCh37)
Canonical SPDI:: NC_000019.10:6138643:AA:
Gene:: ACSBG2 (Varview), LOC105372255 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: AA=0.37946/6337 (TOMMO)
-=0.46904/38119 (GnomAD)
HGVS:: NC_000019.10:g.6138644_6138645del, NC_000019.9:g.6138655_6138656del

Select item 149140415115.

rs1491404151 [Homo sapiens]

Variant type:: INS
Alleles:: ->TTT [Show Flanks]
Chromosome:: 19:6182947 (GRCh38)
19:6182959 (GRCh37)
Canonical SPDI:: NC_000019.10:6182947::TTT
Gene:: ACSBG2 (Varview), LOC105372255 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000019.10:g.6182947_6182948insTTT, NC_000019.9:g.6182958_6182959insTTT

Select item 149140126716.

rs1491401267 has merged into rs35539453 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAGGGAAAAAGGAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 19:6155804 (GRCh38)
19:6155815 (GRCh37)
Canonical SPDI:: NC_000019.10:6155789:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:6155789:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:6155789:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:6155789:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:6155789:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:6155789:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:6155789:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:6155789:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:6155789:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:6155789:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAGGGAAAAAGGAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ACSBG2 (Varview), LOC105372255 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000019.10:g.6155804_6155808del, NC_000019.10:g.6155805_6155808del, NC_000019.10:g.6155806_6155808del, NC_000019.10:g.6155807_6155808del, NC_000019.10:g.6155808del, NC_000019.10:g.6155808dup, NC_000019.10:g.6155807_6155808dup, NC_000019.10:g.6155806_6155808dup, NC_000019.10:g.6155805_6155808dup, NC_000019.10:g.6155790_6155808A[22]GGGAAAAAGGAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000019.9:g.6155815_6155819del, NC_000019.9:g.6155816_6155819del, NC_000019.9:g.6155817_6155819del, NC_000019.9:g.6155818_6155819del, NC_000019.9:g.6155819del, NC_000019.9:g.6155819dup, NC_000019.9:g.6155818_6155819dup, NC_000019.9:g.6155817_6155819dup, NC_000019.9:g.6155816_6155819dup, NC_000019.9:g.6155801_6155819A[22]GGGAAAAAGGAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]

Select item 149138106117.

rs1491381061 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TTGTGTGTGTGT,TTGTGTGTGTGTGT,TTGTGTGTGTGTGTGT,TTGTGTGTGTGTGTGTGT,TTGTGTGTGTGTGTGTGTGT,TTGTGTGTGTGTGTGTGTGTGT,TTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 19:6166280 (GRCh38)
19:6166292 (GRCh37)
Canonical SPDI:: NC_000019.10:6166280:TGTGTGTGT:TGTGTGTGTTTGTGTGTGTGT,NC_000019.10:6166280:TGTGTGTGT:TGTGTGTGTTTGTGTGTGTGTGT,NC_000019.10:6166280:TGTGTGTGT:TGTGTGTGTTTGTGTGTGTGTGTGT,NC_000019.10:6166280:TGTGTGTGT:TGTGTGTGTTTGTGTGTGTGTGTGTGT,NC_000019.10:6166280:TGTGTGTGT:TGTGTGTGTTTGTGTGTGTGTGTGTGTGT,NC_000019.10:6166280:TGTGTGTGT:TGTGTGTGTTTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:6166280:TGTGTGTGT:TGTGTGTGTTTGTGTGTGTGTGTGTGTGTGTGT
Gene:: ACSBG2 (Varview), LOC105372255 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TGTGTGTGTTTGTGTGTGTGTGT=0./0 (ALFA)
HGVS:: NC_000019.10:g.6166281_6166289TG[4]TTTGTGTGTGTGT[1], NC_000019.10:g.6166281_6166289TG[4]TTTGTGTGTGTGTGT[1], NC_000019.10:g.6166281_6166289TG[4]TTTGTGTGTGTGTGTGT[1], NC_000019.10:g.6166281_6166289TG[4]TTTGTGTGTGTGTGTGTGT[1], NC_000019.10:g.6166281_6166289TG[4]TTTGTGTGTGTGTGTGTGTGT[1], NC_000019.10:g.6166281_6166289TG[4]TTTGTGTGTGTGTGTGTGTGTGT[1], NC_000019.10:g.6166281_6166289TG[4]TTTGTGTGTGTGTGTGTGTGTGTGT[1], NC_000019.9:g.6166292_6166300TG[4]TTTGTGTGTGTGT[1], NC_000019.9:g.6166292_6166300TG[4]TTTGTGTGTGTGTGT[1], NC_000019.9:g.6166292_6166300TG[4]TTTGTGTGTGTGTGTGT[1], NC_000019.9:g.6166292_6166300TG[4]TTTGTGTGTGTGTGTGTGT[1], NC_000019.9:g.6166292_6166300TG[4]TTTGTGTGTGTGTGTGTGTGT[1], NC_000019.9:g.6166292_6166300TG[4]TTTGTGTGTGTGTGTGTGTGTGT[1], NC_000019.9:g.6166292_6166300TG[4]TTTGTGTGTGTGTGTGTGTGTGTGT[1]

Select item 149137857918.

rs1491378579 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 19:6166280 (GRCh38)
19:6166291 (GRCh37)
Canonical SPDI:: NC_000019.10:6166279:TT:
Gene:: ACSBG2 (Varview), LOC105372255 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00001/1 (GnomAD)
HGVS:: NC_000019.10:g.6166280_6166281del, NC_000019.9:g.6166291_6166292del

Select item 149136157119.

rs1491361571 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->G
Chromosome:: no mapping
Canonical SPDI:

Select item 149135783920.

rs1491357839 [Homo sapiens]

Variant type:: DEL
Alleles:: GG>- [Show Flanks]
Chromosome:: 19:6153883 (GRCh38)
19:6153894 (GRCh37)
Canonical SPDI:: NC_000019.10:6153882:GG:
Gene:: ACSBG2 (Varview), LOC105372255 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000019.10:g.6153883_6153884del, NC_000019.9:g.6153894_6153895del

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dbSNP

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