SNP Links for Gene (Select 104355146) - SNP

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Select item 14907471341.

rs1490747134 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 13:110053965 (GRCh38)
13:110706312 (GRCh37)
Canonical SPDI:: NC_000013.11:110053964:C:A
Gene:: LOC101927646 (Varview), LINC00396 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000034/9 (TOPMED)
HGVS:: NC_000013.11:g.110053965C>A, NC_000013.10:g.110706312C>A

Select item 14901988052.

rs1490198805 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:110054326 (GRCh38)
13:110706673 (GRCh37)
Canonical SPDI:: NC_000013.11:110054325:C:T
Gene:: LOC101927646 (Varview), LINC00396 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000045/12 (TOPMED)
HGVS:: NC_000013.11:g.110054326C>T, NC_000013.10:g.110706673C>T

Select item 14895924643.

rs1489592464 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 13:110052347 (GRCh38)
13:110704694 (GRCh37)
Canonical SPDI:: NC_000013.11:110052346:A:T
Gene:: LOC101927646 (Varview), LINC00396 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000224/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000013.11:g.110052347A>T, NC_000013.10:g.110704694A>T

Select item 14892026944.

rs1489202694 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:110052931 (GRCh38)
13:110705278 (GRCh37)
Canonical SPDI:: NC_000013.11:110052930:T:C
Gene:: LOC101927646 (Varview), LINC00396 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.110052931T>C, NC_000013.10:g.110705278T>C

Select item 14889627835.

rs1488962783 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:110054262 (GRCh38)
13:110706609 (GRCh37)
Canonical SPDI:: NC_000013.11:110054261:G:A
Gene:: LOC101927646 (Varview), LINC00396 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_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_000013.11:g.110054262G>A, NC_000013.10:g.110706609G>A

Select item 14883161166.

rs1488316116 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTT>- [Show Flanks]
Chromosome:: 13:110054761 (GRCh38)
13:110707108 (GRCh37)
Canonical SPDI:: NC_000013.11:110054755:TTCTTCTT:TTCTT
Gene:: LOC101927646 (Varview), LINC00396 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TTCTT=0./0 (ALFA)
HGVS:: NC_000013.11:g.110054758CTT[1], NC_000013.10:g.110707105CTT[1]

Select item 14869467217.

rs1486946721 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 13:110054157 (GRCh38)
13:110706504 (GRCh37)
Canonical SPDI:: NC_000013.11:110054156:A:T
Gene:: LOC101927646 (Varview), LINC00396 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000447/2 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000446/2 (Estonian)
HGVS:: NC_000013.11:g.110054157A>T, NC_000013.10:g.110706504A>T, NR_126387.1:n.234A>T

Select item 14866071078.

rs1486607107 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 13:110051312 (GRCh38)
13:110703659 (GRCh37)
Canonical SPDI:: NC_000013.11:110051311:AAA:AA
Gene:: LOC101927646 (Varview), LINC00396 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.110051314del, NC_000013.10:g.110703661del

Select item 14859430309.

rs1485943030 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 13:110053832 (GRCh38)
13:110706179 (GRCh37)
Canonical SPDI:: NC_000013.11:110053831:G:
Gene:: LOC101927646 (Varview), LINC00396 (Varview)
Functional Consequence:: genic_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_000013.11:g.110053832del, NC_000013.10:g.110706179del

Select item 148585668410.

rs1485856684 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:110054692 (GRCh38)
13:110707039 (GRCh37)
Canonical SPDI:: NC_000013.11:110054691:G:A
Gene:: LOC101927646 (Varview), LINC00396 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.110054692G>A, NC_000013.10:g.110707039G>A

Select item 148520898211.

rs1485208982 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 13:110052821 (GRCh38)
13:110705168 (GRCh37)
Canonical SPDI:: NC_000013.11:110052820:C:A,NC_000013.11:110052820:C:T
Gene:: LOC101927646 (Varview), LINC00396 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.110052821C>A, NC_000013.11:g.110052821C>T, NC_000013.10:g.110705168C>A, NC_000013.10:g.110705168C>T

Select item 148252636912.

rs1482526369 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 13:110052135 (GRCh38)
13:110704482 (GRCh37)
Canonical SPDI:: NC_000013.11:110052134:A:T
Gene:: LOC101927646 (Varview), LINC00396 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000023/6 (TOPMED)
T=0.000342/1 (KOREAN)
HGVS:: NC_000013.11:g.110052135A>T, NC_000013.10:g.110704482A>T

Select item 148235074613.

rs1482350746 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:110052358 (GRCh38)
13:110704705 (GRCh37)
Canonical SPDI:: NC_000013.11:110052357:T:C
Gene:: LOC101927646 (Varview), LINC00396 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000013.11:g.110052358T>C, NC_000013.10:g.110704705T>C

Select item 148083405714.

rs1480834057 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:110053537 (GRCh38)
13:110705884 (GRCh37)
Canonical SPDI:: NC_000013.11:110053536:A:G
Gene:: LOC101927646 (Varview), LINC00396 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000023/6 (TOPMED)
G=0.000029/4 (GnomAD)
HGVS:: NC_000013.11:g.110053537A>G, NC_000013.10:g.110705884A>G

Select item 148027080415.

rs1480270804 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 13:110051905 (GRCh38)
13:110704252 (GRCh37)
Canonical SPDI:: NC_000013.11:110051904:A:C
Gene:: LOC101927646 (Varview), LINC00396 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000013.11:g.110051905A>C, NC_000013.10:g.110704252A>C

Select item 148018474216.

rs1480184742 has merged into rs371729239 [Homo sapiens]

Variant type:: DELINS
Alleles:: AC>- [Show Flanks]
Chromosome:: 13:110054437 (GRCh38)
13:110706784 (GRCh37)
Canonical SPDI:: NC_000013.11:110054431:CACACAC:CACAC
Gene:: LOC101927646 (Varview), LINC00396 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CACAC=0./0 (ALFA)
HGVS:: NC_000013.11:g.110054433AC[2], NC_000013.10:g.110706780AC[2]

Select item 148001400317.

rs1480014003 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:110051979 (GRCh38)
13:110704326 (GRCh37)
Canonical SPDI:: NC_000013.11:110051978:T:C
Gene:: LOC101927646 (Varview), LINC00396 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000013.11:g.110051979T>C, NC_000013.10:g.110704326T>C

Select item 147935461418.

rs1479354614 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 13:110053026 (GRCh38)
13:110705373 (GRCh37)
Canonical SPDI:: NC_000013.11:110053025:A:C
Gene:: LOC101927646 (Varview), LINC00396 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.110053026A>C, NC_000013.10:g.110705373A>C

Select item 147918411919.

rs1479184119 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:110052334 (GRCh38)
13:110704681 (GRCh37)
Canonical SPDI:: NC_000013.11:110052333:G:A
Gene:: LOC101927646 (Varview), LINC00396 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000013.11:g.110052334G>A, NC_000013.10:g.110704681G>A

Select item 147870854620.

rs1478708546 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 13:110053081 (GRCh38)
13:110705428 (GRCh37)
Canonical SPDI:: NC_000013.11:110053080:C:A
Gene:: LOC101927646 (Varview), LINC00396 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.110053081C>A, NC_000013.10:g.110705428C>A

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