SNP Links for Gene (Select 100506555) - SNP

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Select item 14911617571.

rs1491161757 has merged into rs144999039 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>-,C,CCC,CCCC,CCCCC [Show Flanks]
Chromosome:: 3:111063919 (GRCh38)
3:110782766 (GRCh37)
Canonical SPDI:: NC_000003.12:111063910:CCCCCCCCCC:CCCCCCCC,NC_000003.12:111063910:CCCCCCCCCC:CCCCCCCCC,NC_000003.12:111063910:CCCCCCCCCC:CCCCCCCCCCC,NC_000003.12:111063910:CCCCCCCCCC:CCCCCCCCCCCC,NC_000003.12:111063910:CCCCCCCCCC:CCCCCCCCCCCCC
Gene:: LOC151760 (Varview), NECTIN3-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCC=0.00008/1 (ALFA)
C=0.06247/274 (Estonian)
C=0.15775/790 (1000Genomes)
HGVS:: NC_000003.12:g.111063919_111063920del, NC_000003.12:g.111063920del, NC_000003.12:g.111063920dup, NC_000003.12:g.111063919_111063920dup, NC_000003.12:g.111063918_111063920dup, NC_000003.11:g.110782766_110782767del, NC_000003.11:g.110782767del, NC_000003.11:g.110782767dup, NC_000003.11:g.110782766_110782767dup, NC_000003.11:g.110782765_110782767dup

Select item 14909793472.

rs1490979347 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAA>- [Show Flanks]
Chromosome:: 3:111068574 (GRCh38)
3:110787421 (GRCh37)
Canonical SPDI:: NC_000003.12:111068568:AAGAAGAA:AAGAA
Gene:: LOC151760 (Varview), NECTIN3-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAGAA=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000021/3 (GnomAD)
HGVS:: NC_000003.12:g.111068571GAA[1], NC_000003.11:g.110787418GAA[1], NG_029835.1:g.1813GAA[1]

Select item 14909196253.

rs1490919625 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:111069195 (GRCh38)
3:110788042 (GRCh37)
Canonical SPDI:: NC_000003.12:111069194:C:A
Gene:: LOC151760 (Varview), NECTIN3-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000003.12:g.111069195C>A, NC_000003.11:g.110788042C>A, NG_029835.1:g.2437C>A

Select item 14907374604.

rs1490737460 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:111053478 (GRCh38)
3:110772325 (GRCh37)
Canonical SPDI:: NC_000003.12:111053477:G:T
Gene:: LOC151760 (Varview), NECTIN3-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.111053478G>T, NC_000003.11:g.110772325G>T

Select item 14903506175.

rs1490350617 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:111053747 (GRCh38)
3:110772594 (GRCh37)
Canonical SPDI:: NC_000003.12:111053746:C:A
Gene:: LOC151760 (Varview), NECTIN3-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.111053747C>A, NC_000003.11:g.110772594C>A

Select item 14903033346.

rs1490303334 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:111050461 (GRCh38)
3:110769308 (GRCh37)
Canonical SPDI:: NC_000003.12:111050460:T:G
Gene:: LOC151760 (Varview), NECTIN3-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000003.12:g.111050461T>G, NC_000003.11:g.110769308T>G

Select item 14903031107.

rs1490303110 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:111046156 (GRCh38)
3:110765003 (GRCh37)
Canonical SPDI:: NC_000003.12:111046155:G:A
Gene:: LOC151760 (Varview), NECTIN3-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.111046156G>A, NC_000003.11:g.110765003G>A, NG_083087.1:g.932G>A

Select item 14902801398.

rs1490280139 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 3:111061702 (GRCh38)
3:110780549 (GRCh37)
Canonical SPDI:: NC_000003.12:111061701:A:C,NC_000003.12:111061701:A:G
Gene:: LOC151760 (Varview), NECTIN3-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000026/7 (TOPMED)
C=0.000342/1 (KOREAN)
C=0.000546/1 (Korea1K)
C=0.001062/18 (TOMMO)
HGVS:: NC_000003.12:g.111061702A>C, NC_000003.12:g.111061702A>G, NC_000003.11:g.110780549A>C, NC_000003.11:g.110780549A>G

Select item 14902488619.

rs1490248861 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:111062679 (GRCh38)
3:110781526 (GRCh37)
Canonical SPDI:: NC_000003.12:111062678:G:A
Gene:: LOC151760 (Varview), NECTIN3-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.111062679G>A, NC_000003.11:g.110781526G>A

Select item 149016345910.

rs1490163459 has merged into rs777309548 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA [Show Flanks]
Chromosome:: 3:111069071 (GRCh38)
3:110787918 (GRCh37)
Canonical SPDI:: NC_000003.12:111069070:AAAAAAA:AAAAAA,NC_000003.12:111069070:AAAAAAA:AAAAAAAA
Gene:: LOC151760 (Varview), NECTIN3-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0.000972/18 (ALFA)
-=0.000181/48 (TOPMED)
-=0.000312/2 (1000Genomes)
-=0.004241/19 (Estonian)
HGVS:: NC_000003.12:g.111069077del, NC_000003.12:g.111069077dup, NC_000003.11:g.110787924del, NC_000003.11:g.110787924dup, NG_029835.1:g.2319del, NG_029835.1:g.2319dup

Select item 148993745711.

rs1489937457 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:111067215 (GRCh38)
3:110786062 (GRCh37)
Canonical SPDI:: NC_000003.12:111067214:A:G
Gene:: LOC151760 (Varview), NECTIN3-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.111067215A>G, NC_000003.11:g.110786062A>G, NG_029835.1:g.457A>G

Select item 148990135412.

rs1489901354 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:111064967 (GRCh38)
3:110783814 (GRCh37)
Canonical SPDI:: NC_000003.12:111064966:C:A
Gene:: LOC151760 (Varview), NECTIN3-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.111064967C>A, NC_000003.11:g.110783814C>A

Select item 148981185213.

rs1489811852 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:111045695 (GRCh38)
3:110764542 (GRCh37)
Canonical SPDI:: NC_000003.12:111045694:C:T
Gene:: LOC151760 (Varview), NECTIN3-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.111045695C>T, NC_000003.11:g.110764542C>T, NG_083087.1:g.471C>T, NR_045114.1:n.749G>A

Select item 148978203014.

rs1489782030 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:111061276 (GRCh38)
3:110780123 (GRCh37)
Canonical SPDI:: NC_000003.12:111061275:C:A
Gene:: LOC151760 (Varview), NECTIN3-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.111061276C>A, NC_000003.11:g.110780123C>A

Select item 148973602015.

rs1489736020 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:111055397 (GRCh38)
3:110774244 (GRCh37)
Canonical SPDI:: NC_000003.12:111055396:G:A
Gene:: LOC151760 (Varview), NECTIN3-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.111055397G>A, NC_000003.11:g.110774244G>A

Select item 148951917116.

rs1489519171 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 3:111064729 (GRCh38)
3:110783576 (GRCh37)
Canonical SPDI:: NC_000003.12:111064728:A:C
Gene:: LOC151760 (Varview), NECTIN3-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.111064729A>C, NC_000003.11:g.110783576A>C

Select item 148949711517.

rs1489497115 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:111059432 (GRCh38)
3:110778279 (GRCh37)
Canonical SPDI:: NC_000003.12:111059431:T:C
Gene:: LOC151760 (Varview), NECTIN3-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.111059432T>C, NC_000003.11:g.110778279T>C

Select item 148936243518.

rs1489362435 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 3:111063259 (GRCh38)
3:110782106 (GRCh37)
Canonical SPDI:: NC_000003.12:111063258:T:A,NC_000003.12:111063258:T:C
Gene:: LOC151760 (Varview), NECTIN3-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.111063259T>A, NC_000003.12:g.111063259T>C, NC_000003.11:g.110782106T>A, NC_000003.11:g.110782106T>C

Select item 148931895019.

rs1489318950 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:111051432 (GRCh38)
3:110770279 (GRCh37)
Canonical SPDI:: NC_000003.12:111051431:A:G
Gene:: LOC151760 (Varview), NECTIN3-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.00003/8 (TOPMED)
HGVS:: NC_000003.12:g.111051432A>G, NC_000003.11:g.110770279A>G

Select item 148926174220.

rs1489261742 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 3:111047383 (GRCh38)
3:110766230 (GRCh37)
Canonical SPDI:: NC_000003.12:111047382:G:A,NC_000003.12:111047382:G:C,NC_000003.12:111047382:G:T
Gene:: LOC151760 (Varview), NECTIN3-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000003.12:g.111047383G>A, NC_000003.12:g.111047383G>C, NC_000003.12:g.111047383G>T, NC_000003.11:g.110766230G>A, NC_000003.11:g.110766230G>C, NC_000003.11:g.110766230G>T

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