SNP Links for Gene (Select 146712) - SNP

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Select item 14915510671.

rs1491551067 has merged into rs34620538 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:82989507 (GRCh38)
17:80947383 (GRCh37)
Canonical SPDI:: NC_000017.11:82989495:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:82989495:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:82989495:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:82989495:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:82989495:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:82989495:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:82989495:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:82989495:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:82989495:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:82989495:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:82989495:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:82989495:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:82989495:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:82989495:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: B3GNTL1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAA=0./0 (ALFA)
AA=0.3259/1632 (1000Genomes)
HGVS:: NC_000017.11:g.82989507_82989516del, NC_000017.11:g.82989510_82989516del, NC_000017.11:g.82989511_82989516del, NC_000017.11:g.82989512_82989516del, NC_000017.11:g.82989513_82989516del, NC_000017.11:g.82989514_82989516del, NC_000017.11:g.82989515_82989516del, NC_000017.11:g.82989516del, NC_000017.11:g.82989516dup, NC_000017.11:g.82989515_82989516dup, NC_000017.11:g.82989514_82989516dup, NC_000017.11:g.82989513_82989516dup, NC_000017.11:g.82989512_82989516dup, NC_000017.11:g.82989511_82989516dup, NC_000017.10:g.80947383_80947392del, NC_000017.10:g.80947386_80947392del, NC_000017.10:g.80947387_80947392del, NC_000017.10:g.80947388_80947392del, NC_000017.10:g.80947389_80947392del, NC_000017.10:g.80947390_80947392del, NC_000017.10:g.80947391_80947392del, NC_000017.10:g.80947392del, NC_000017.10:g.80947392dup, NC_000017.10:g.80947391_80947392dup, NC_000017.10:g.80947390_80947392dup, NC_000017.10:g.80947389_80947392dup, NC_000017.10:g.80947388_80947392dup, NC_000017.10:g.80947387_80947392dup, NT_187612.1:g.112151_112160del, NT_187612.1:g.112154_112160del, NT_187612.1:g.112155_112160del, NT_187612.1:g.112156_112160del, NT_187612.1:g.112157_112160del, NT_187612.1:g.112158_112160del, NT_187612.1:g.112159_112160del, NT_187612.1:g.112160del, NT_187612.1:g.112160dup, NT_187612.1:g.112159_112160dup, NT_187612.1:g.112158_112160dup, NT_187612.1:g.112157_112160dup, NT_187612.1:g.112156_112160dup, NT_187612.1:g.112155_112160dup

Select item 14915403892.

rs1491540389 has merged into rs35735444 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTGTG>-,TG,TGTG,TGTGTGTG,TGTGTGTGTG [Show Flanks]
Chromosome:: 17:82959475 (GRCh38)
17:80917351 (GRCh37)
Canonical SPDI:: NC_000017.11:82959463:GTGTGTGTGTGTGTGTG:GTGTGTGTGTG,NC_000017.11:82959463:GTGTGTGTGTGTGTGTG:GTGTGTGTGTGTG,NC_000017.11:82959463:GTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTG,NC_000017.11:82959463:GTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTG,NC_000017.11:82959463:GTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTG
Gene:: B3GNTL1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGTG=0./0 (ALFA)
GT=0.2471/1232 (1000Genomes)
GT=0.2476/52 (Vietnamese)
HGVS:: NC_000017.11:g.82959465TG[5], NC_000017.11:g.82959465TG[6], NC_000017.11:g.82959465TG[7], NC_000017.11:g.82959465TG[9], NC_000017.11:g.82959465TG[10], NC_000017.10:g.80917341TG[5], NC_000017.10:g.80917341TG[6], NC_000017.10:g.80917341TG[7], NC_000017.10:g.80917341TG[9], NC_000017.10:g.80917341TG[10], NT_187612.1:g.141924AC[8], NT_187612.1:g.141924AC[5], NT_187612.1:g.141924AC[6], NT_187612.1:g.141924AC[9], NT_187612.1:g.141924AC[10]

Select item 14915264183.

rs1491526418 has merged into rs200926890 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGT>-,GT,GTGTGT,GTGTGTGT [Show Flanks]
Chromosome:: 17:82958841 (GRCh38)
17:80916717 (GRCh37)
Canonical SPDI:: NC_000017.11:82958830:GTGTGTGTGTGTGT:GTGTGTGTGT,NC_000017.11:82958830:GTGTGTGTGTGTGT:GTGTGTGTGTGT,NC_000017.11:82958830:GTGTGTGTGTGTGT:GTGTGTGTGTGTGTGT,NC_000017.11:82958830:GTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGT
Gene:: B3GNTL1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGT=0./0 (ALFA)
HGVS:: NC_000017.11:g.82958831GT[5], NC_000017.11:g.82958831GT[6], NC_000017.11:g.82958831GT[8], NC_000017.11:g.82958831GT[9], NC_000017.10:g.80916707GT[5], NC_000017.10:g.80916707GT[6], NC_000017.10:g.80916707GT[8], NC_000017.10:g.80916707GT[9], NT_187612.1:g.142553AC[6], NT_187612.1:g.142553AC[7], NT_187612.1:g.142553AC[9], NT_187612.1:g.142553AC[10]

Select item 14915253074.

rs1491525307 [Homo sapiens]

Variant type:: INS
Alleles:: ->CAAGCGAGGTCATAACAGC [Show Flanks]
Chromosome:: 17:83048821 (GRCh38)
17:81006698 (GRCh37)
Canonical SPDI:: NC_000017.11:83048821::CAAGCGAGGTCATAACAGC
Gene:: B3GNTL1 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
HGVS:: NC_000017.11:g.83048821_83048822insCAAGCGAGGTCATAACAGC, NC_000017.10:g.81006697_81006698insCAAGCGAGGTCATAACAGC, NT_187612.1:g.54117_54118insGCTGTTATGACCTCGCTTG

Select item 14915081375.

rs1491508137 has merged into rs3080044 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGT>-,GT,GTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 17:82946580 (GRCh38)
17:80904456 (GRCh37)
Canonical SPDI:: NC_000017.11:82946569:GTGTGTGTGTGTGTGT:GTGTGTGTGT,NC_000017.11:82946569:GTGTGTGTGTGTGTGT:GTGTGTGTGTGT,NC_000017.11:82946569:GTGTGTGTGTGTGTGT:GTGTGTGTGTGTGT,NC_000017.11:82946569:GTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGT,NC_000017.11:82946569:GTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT,NC_000017.11:82946569:GTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000017.11:82946569:GTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000017.11:82946569:GTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000017.11:82946569:GTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000017.11:82946569:GTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000017.11:82946569:GTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000017.11:82946569:GTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000017.11:82946569:GTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000017.11:82946569:GTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000017.11:82946569:GTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000017.11:82946569:GTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000017.11:82946569:GTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000017.11:82946569:GTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000017.11:82946569:GTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000017.11:82946569:GTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000017.11:82946569:GTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000017.11:82946569:GTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000017.11:82946569:GTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000017.11:82946569:GTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000017.11:82946569:GTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: B3GNTL1 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGT=0./0 (ALFA)
-=0.25/10 (GENOME_DK)
GTGTGTGTGTGTGTGTGTGT=0.3111/1558 (1000Genomes)
HGVS:: NC_000017.11:g.82946570GT[5], NC_000017.11:g.82946570GT[6], NC_000017.11:g.82946570GT[7], NC_000017.11:g.82946570GT[9], NC_000017.11:g.82946570GT[10], NC_000017.11:g.82946570GT[11], NC_000017.11:g.82946570GT[12], NC_000017.11:g.82946570GT[13], NC_000017.11:g.82946570GT[14], NC_000017.11:g.82946570GT[15], NC_000017.11:g.82946570GT[16], NC_000017.11:g.82946570GT[17], NC_000017.11:g.82946570GT[18], NC_000017.11:g.82946570GT[19], NC_000017.11:g.82946570GT[20], NC_000017.11:g.82946570GT[21], NC_000017.11:g.82946570GT[22], NC_000017.11:g.82946570GT[23], NC_000017.11:g.82946570GT[24], NC_000017.11:g.82946570GT[25], NC_000017.11:g.82946570GT[26], NC_000017.11:g.82946570GT[27], NC_000017.11:g.82946570GT[28], NC_000017.11:g.82946570GT[29], NC_000017.11:g.82946570GT[31], NC_000017.10:g.80904446GT[5], NC_000017.10:g.80904446GT[6], NC_000017.10:g.80904446GT[7], NC_000017.10:g.80904446GT[9], NC_000017.10:g.80904446GT[10], NC_000017.10:g.80904446GT[11], NC_000017.10:g.80904446GT[12], NC_000017.10:g.80904446GT[13], NC_000017.10:g.80904446GT[14], NC_000017.10:g.80904446GT[15], NC_000017.10:g.80904446GT[16], NC_000017.10:g.80904446GT[17], NC_000017.10:g.80904446GT[18], NC_000017.10:g.80904446GT[19], NC_000017.10:g.80904446GT[20], NC_000017.10:g.80904446GT[21], NC_000017.10:g.80904446GT[22], NC_000017.10:g.80904446GT[23], NC_000017.10:g.80904446GT[24], NC_000017.10:g.80904446GT[25], NC_000017.10:g.80904446GT[26], NC_000017.10:g.80904446GT[27], NC_000017.10:g.80904446GT[28], NC_000017.10:g.80904446GT[29], NC_000017.10:g.80904446GT[31], NT_187612.1:g.154810AC[20], NT_187612.1:g.154810AC[21], NT_187612.1:g.154810AC[22], NT_187612.1:g.154810AC[24], NT_187612.1:g.154810AC[25], NT_187612.1:g.154810AC[26], NT_187612.1:g.154810AC[27], NT_187612.1:g.154810AC[28], NT_187612.1:g.154810AC[29], NT_187612.1:g.154810AC[30], NT_187612.1:g.154810AC[31], NT_187612.1:g.154810AC[32], NT_187612.1:g.154810AC[33], NT_187612.1:g.154810AC[34], NT_187612.1:g.154810AC[35], NT_187612.1:g.154810AC[36], NT_187612.1:g.154810AC[37], NT_187612.1:g.154810AC[38], NT_187612.1:g.154810AC[39], NT_187612.1:g.154810AC[40], NT_187612.1:g.154810AC[41], NT_187612.1:g.154810AC[42], NT_187612.1:g.154810AC[43], NT_187612.1:g.154810AC[44], NT_187612.1:g.154810AC[46]

Select item 14914606226.

rs1491460622 has merged into rs928194843 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGT>-,GT,GTGTGT [Show Flanks]
Chromosome:: 17:82958966 (GRCh38)
17:80916842 (GRCh37)
Canonical SPDI:: NC_000017.11:82958956:TGTGTGTGTGTGT:TGTGTGTGT,NC_000017.11:82958956:TGTGTGTGTGTGT:TGTGTGTGTGT,NC_000017.11:82958956:TGTGTGTGTGTGT:TGTGTGTGTGTGTGT
Gene:: B3GNTL1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGT=0./0 (ALFA)
HGVS:: NC_000017.11:g.82958958GT[4], NC_000017.11:g.82958958GT[5], NC_000017.11:g.82958958GT[7], NC_000017.10:g.80916834GT[4], NC_000017.10:g.80916834GT[5], NC_000017.10:g.80916834GT[7]

Select item 14914599857.

rs1491459985 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 17:82989495 (GRCh38)
17:80947371 (GRCh37)
Canonical SPDI:: NC_000017.11:82989494:TA:
Gene:: B3GNTL1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00194/23 (ALFA)
-=0.00006/1 (TOMMO)
HGVS:: NC_000017.11:g.82989495_82989496del, NC_000017.10:g.80947371_80947372del, NT_187612.1:g.112160_112161del

Select item 14914367878.

rs1491436787 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AAAC [Show Flanks]
Chromosome:: 17:82969354 (GRCh38)
17:80927231 (GRCh37)
Canonical SPDI:: NC_000017.11:82969354:C:CAAAC
Gene:: B3GNTL1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: CAAAC=0./0 (ALFA)
HGVS:: NC_000017.11:g.82969355_82969356insAAAC, NC_000017.10:g.80927231_80927232insAAAC, NT_187612.1:g.132103_132104insTTTG

Select item 14914355939.

rs1491435593 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ACACTT [Show Flanks]
Chromosome:: 17:83018455 (GRCh38)
17:80976332 (GRCh37)
Canonical SPDI:: NC_000017.11:83018455:TACACTT:TACACTTACACTT
Gene:: B3GNTL1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TACACTTACACTT=0./0 (ALFA)
TACACT=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.83018457_83018462dup, NC_000017.10:g.80976333_80976338dup, NT_187612.1:g.83452_83457dup

Select item 149143357910.

rs1491433579 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 17:82958795 (GRCh38)
17:80916671 (GRCh37)
Canonical SPDI:: NC_000017.11:82958794:AT:
Gene:: B3GNTL1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000202/21 (GnomAD)
HGVS:: NC_000017.11:g.82958795_82958796del, NC_000017.10:g.80916671_80916672del, NT_187612.1:g.142599_142600del

Select item 149140216311.

rs1491402163 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 17:82959463 (GRCh38)
17:80917339 (GRCh37)
Canonical SPDI:: NC_000017.11:82959462:AG:
Gene:: B3GNTL1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.82959463_82959464del, NC_000017.10:g.80917339_80917340del, NT_187612.1:g.141937dup, NT_187612.1:g.141938del

Select item 149138560112.

rs1491385601 [Homo sapiens]

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

Select item 149138452013.

rs1491384520 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 17:82958957 (GRCh38)
17:80916834 (GRCh37)
Canonical SPDI:: NC_000017.11:82958957:G:GG
Gene:: B3GNTL1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0.00051/6 (ALFA)
G=0.00014/11 (GnomAD)
G=0.00171/28 (TOMMO)
HGVS:: NC_000017.11:g.82958958dup, NC_000017.10:g.80916834dup, NT_187612.1:g.142441dup

Select item 149134574814.

rs1491345748 [Homo sapiens]

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

Select item 149133649815.

rs1491336498 has merged into rs34013573 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:82996530 (GRCh38)
17:80954406 (GRCh37)
Canonical SPDI:: NC_000017.11:82996521:AAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000017.11:82996521:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:82996521:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:82996521:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:82996521:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:82996521:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:82996521:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:82996521:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:82996521:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:82996521:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: B3GNTL1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000017.11:g.82996530_82996538del, NC_000017.11:g.82996534_82996538del, NC_000017.11:g.82996535_82996538del, NC_000017.11:g.82996536_82996538del, NC_000017.11:g.82996537_82996538del, NC_000017.11:g.82996538del, NC_000017.11:g.82996538dup, NC_000017.11:g.82996537_82996538dup, NC_000017.11:g.82996536_82996538dup, NC_000017.11:g.82996531_82996538dup, NC_000017.10:g.80954406_80954414del, NC_000017.10:g.80954410_80954414del, NC_000017.10:g.80954411_80954414del, NC_000017.10:g.80954412_80954414del, NC_000017.10:g.80954413_80954414del, NC_000017.10:g.80954414del, NC_000017.10:g.80954414dup, NC_000017.10:g.80954413_80954414dup, NC_000017.10:g.80954412_80954414dup, NC_000017.10:g.80954407_80954414dup, NT_187612.1:g.105126_105134del, NT_187612.1:g.105130_105134del, NT_187612.1:g.105131_105134del, NT_187612.1:g.105132_105134del, NT_187612.1:g.105133_105134del, NT_187612.1:g.105134del, NT_187612.1:g.105134dup, NT_187612.1:g.105133_105134dup, NT_187612.1:g.105132_105134dup, NT_187612.1:g.105127_105134dup

Select item 149132221416.

rs1491322214 [Homo sapiens]

Variant type:: DEL
Alleles:: TC>- [Show Flanks]
Chromosome:: 17:82964027 (GRCh38)
17:80921903 (GRCh37)
Canonical SPDI:: NC_000017.11:82964026:TC:
Gene:: B3GNTL1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00306/13 (Estonian)
-=0.00333/54 (TOMMO)
-=0.00532/3 (NorthernSweden)
-=0.00593/38 (1000Genomes)
-=0.00624/585 (GnomAD)
HGVS:: NC_000017.11:g.82964027_82964028del, NC_000017.10:g.80921903_80921904del, NT_187612.1:g.137430C>G, NT_187612.1:g.137431_137432del

Select item 149131981817.

rs1491319818 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 17:82959068 (GRCh38)
17:80916944 (GRCh37)
Canonical SPDI:: NC_000017.11:82959067:TG:
Gene:: B3GNTL1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00008/1 (TOMMO)
HGVS:: NC_000017.11:g.82959068_82959069del, NC_000017.10:g.80916944_80916945del, NT_187612.1:g.142332_142333del

Select item 149126441618.

rs1491264416 has merged into rs753595614 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGT>-,GT,GTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT [Show Flanks]
Chromosome:: 17:82958805 (GRCh38)
17:80916681 (GRCh37)
Canonical SPDI:: NC_000017.11:82958795:TGTGTGTGTGTGTGT:TGTGTGTGT,NC_000017.11:82958795:TGTGTGTGTGTGTGT:TGTGTGTGTGT,NC_000017.11:82958795:TGTGTGTGTGTGTGT:TGTGTGTGTGTGT,NC_000017.11:82958795:TGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000017.11:82958795:TGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000017.11:82958795:TGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT
Gene:: B3GNTL1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGT=0./0 (ALFA)
-=0.00275/5 (Korea1K)
HGVS:: NC_000017.11:g.82958797GT[4], NC_000017.11:g.82958797GT[5], NC_000017.11:g.82958797GT[6], NC_000017.11:g.82958797GT[8], NC_000017.11:g.82958797GT[9], NC_000017.11:g.82958797GT[10], NC_000017.10:g.80916673GT[4], NC_000017.10:g.80916673GT[5], NC_000017.10:g.80916673GT[6], NC_000017.10:g.80916673GT[8], NC_000017.10:g.80916673GT[9], NC_000017.10:g.80916673GT[10], NT_187612.1:g.142586CA[4], NT_187612.1:g.142586CA[5], NT_187612.1:g.142586CA[6], NT_187612.1:g.142586CA[8], NT_187612.1:g.142586CA[9], NT_187612.1:g.142586CA[10]

Select item 149120854819.

rs1491208548 has merged into rs57155236 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAA>-,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:83027708 (GRCh38)
17:80985584 (GRCh37)
Canonical SPDI:: NC_000017.11:83027699:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000017.11:83027699:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:83027699:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:83027699:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:83027699:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:83027699:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:83027699:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:83027699:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:83027699:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:83027699:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:83027699:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:83027699:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:83027699:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:83027699:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:83027699:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:83027699:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:83027699:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:83027699:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:83027699:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:83027699:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:83027699:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:83027699:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: B3GNTL1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.83027708_83027724del, NC_000017.11:g.83027712_83027724del, NC_000017.11:g.83027713_83027724del, NC_000017.11:g.83027714_83027724del, NC_000017.11:g.83027716_83027724del, NC_000017.11:g.83027717_83027724del, NC_000017.11:g.83027718_83027724del, NC_000017.11:g.83027719_83027724del, NC_000017.11:g.83027720_83027724del, NC_000017.11:g.83027721_83027724del, NC_000017.11:g.83027722_83027724del, NC_000017.11:g.83027723_83027724del, NC_000017.11:g.83027724del, NC_000017.11:g.83027724dup, NC_000017.11:g.83027723_83027724dup, NC_000017.11:g.83027722_83027724dup, NC_000017.11:g.83027721_83027724dup, NC_000017.11:g.83027720_83027724dup, NC_000017.11:g.83027719_83027724dup, NC_000017.11:g.83027718_83027724dup, NC_000017.11:g.83027717_83027724dup, NC_000017.11:g.83027712_83027724dup, NC_000017.10:g.80985584_80985600del, NC_000017.10:g.80985588_80985600del, NC_000017.10:g.80985589_80985600del, NC_000017.10:g.80985590_80985600del, NC_000017.10:g.80985592_80985600del, NC_000017.10:g.80985593_80985600del, NC_000017.10:g.80985594_80985600del, NC_000017.10:g.80985595_80985600del, NC_000017.10:g.80985596_80985600del, NC_000017.10:g.80985597_80985600del, NC_000017.10:g.80985598_80985600del, NC_000017.10:g.80985599_80985600del, NC_000017.10:g.80985600del, NC_000017.10:g.80985600dup, NC_000017.10:g.80985599_80985600dup, NC_000017.10:g.80985598_80985600dup, NC_000017.10:g.80985597_80985600dup, NC_000017.10:g.80985596_80985600dup, NC_000017.10:g.80985595_80985600dup, NC_000017.10:g.80985594_80985600dup, NC_000017.10:g.80985593_80985600dup, NC_000017.10:g.80985588_80985600dup, NT_187612.1:g.74860_74876del, NT_187612.1:g.74864_74876del, NT_187612.1:g.74865_74876del, NT_187612.1:g.74866_74876del, NT_187612.1:g.74868_74876del, NT_187612.1:g.74869_74876del, NT_187612.1:g.74870_74876del, NT_187612.1:g.74871_74876del, NT_187612.1:g.74872_74876del, NT_187612.1:g.74873_74876del, NT_187612.1:g.74874_74876del, NT_187612.1:g.74875_74876del, NT_187612.1:g.74876del, NT_187612.1:g.74876dup, NT_187612.1:g.74875_74876dup, NT_187612.1:g.74874_74876dup, NT_187612.1:g.74873_74876dup, NT_187612.1:g.74872_74876dup, NT_187612.1:g.74871_74876dup, NT_187612.1:g.74870_74876dup, NT_187612.1:g.74869_74876dup, NT_187612.1:g.74864_74876dup

Select item 149116299120.

rs1491162991 has merged into rs35297899 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT [Show Flanks]
Chromosome:: 17:83046304 (GRCh38)
17:81004180 (GRCh37)
Canonical SPDI:: NC_000017.11:83046296:TTTTTTTTT:TTTTTTT,NC_000017.11:83046296:TTTTTTTTT:TTTTTTTT,NC_000017.11:83046296:TTTTTTTTT:TTTTTTTTTT,NC_000017.11:83046296:TTTTTTTTT:TTTTTTTTTTT
Gene:: B3GNTL1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
-=0.044118/189 (1000Genomes)
T=0.115494/30570 (TOPMED)
T=0.123333/74 (NorthernSweden)
T=0.127255/127 (GoNL)
T=0.141412/545 (ALSPAC)
T=0.148598/551 (TWINSUK)
T=0.175/7 (GENOME_DK)
T=0.192188/861 (Estonian)
HGVS:: NC_000017.11:g.83046304_83046305del, NC_000017.11:g.83046305del, NC_000017.11:g.83046305dup, NC_000017.11:g.83046304_83046305dup, NC_000017.10:g.81004180_81004181del, NC_000017.10:g.81004181del, NC_000017.10:g.81004181dup, NC_000017.10:g.81004180_81004181dup, NT_187612.1:g.56637_56638del, NT_187612.1:g.56638del, NT_187612.1:g.56638dup, NT_187612.1:g.56637_56638dup

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