SNP Links for Nucleotide (Select 971825991) - SNP

Links from Nucleotide

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Select item 14884180271.

rs1488418027 has merged into rs1194800638 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,TT,TTTT,TTTTTT [Show Flanks]
Chromosome:: 6:33632034 (GRCh38)
6:33599811 (GRCh37)
Canonical SPDI:: NC_000006.12:33632030:TTTTTTTT:TTT,NC_000006.12:33632030:TTTTTTTT:TTTTT,NC_000006.12:33632030:TTTTTTTT:TTTTTTT,NC_000006.12:33632030:TTTTTTTT:TTTTTTTTT
Gene:: ITPR3 (Varview), ITPR3-AS1 (Varview), LOC124901305 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,500B_downstream_variant,intron_variant,downstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTT=0./0 (ALFA)
-=0.00004/1 (TOMMO)
HGVS:: NC_000006.12:g.33632034_33632038del, NC_000006.12:g.33632036_33632038del, NC_000006.12:g.33632038del, NC_000006.12:g.33632038dup, NC_000006.11:g.33599811_33599815del, NC_000006.11:g.33599813_33599815del, NC_000006.11:g.33599815del, NC_000006.11:g.33599815dup, NG_027729.1:g.15656_15660del, NG_027729.1:g.15658_15660del, NG_027729.1:g.15660del, NG_027729.1:g.15660dup, NR_134628.1:n.1361_1365del, NR_134628.1:n.1363_1365del, NR_134628.1:n.1365del, NR_134628.1:n.1365dup

Select item 14855712562.

rs1485571256 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:33632673 (GRCh38)
6:33600450 (GRCh37)
Canonical SPDI:: NC_000006.12:33632672:T:C
Gene:: ITPR3 (Varview), ITPR3-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
C=0.000212/4 (TOMMO)
HGVS:: NC_000006.12:g.33632673T>C, NC_000006.11:g.33600450T>C, NG_027729.1:g.16295T>C, NR_134628.1:n.723A>G

Select item 14854696523.

rs1485469652 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:33631475 (GRCh38)
6:33599252 (GRCh37)
Canonical SPDI:: NC_000006.12:33631474:C:T
Gene:: ITPR3 (Varview), ITPR3-AS1 (Varview), LOC124901305 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.33631475C>T, NC_000006.11:g.33599252C>T, NG_027729.1:g.15097C>T, NR_134628.1:n.1921G>A, XR_007059550.1:n.384C>T

Select item 14850197674.

rs1485019767 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 6:33632667 (GRCh38)
6:33600445 (GRCh37)
Canonical SPDI:: NC_000006.12:33632667:CCC:CCCC
Gene:: ITPR3 (Varview), ITPR3-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCC=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.33632670dup, NC_000006.11:g.33600447dup, NG_027729.1:g.16292dup, NR_134628.1:n.728dup

Select item 14838603405.

rs1483860340 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAG>- [Show Flanks]
Chromosome:: 6:33632804 (GRCh38)
6:33600581 (GRCh37)
Canonical SPDI:: NC_000006.12:33632802:GGAG:G
Gene:: ITPR3 (Varview), ITPR3-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
-=0.000079/21 (TOPMED)
-=0.000107/15 (GnomAD)
HGVS:: NC_000006.12:g.33632804_33632806del, NC_000006.11:g.33600581_33600583del, NG_027729.1:g.16426_16428del, NR_134628.1:n.591_593del

Select item 14769167086.

rs1476916708 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:33632753 (GRCh38)
6:33600530 (GRCh37)
Canonical SPDI:: NC_000006.12:33632752:G:A
Gene:: ITPR3 (Varview), ITPR3-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,non_coding_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_000006.12:g.33632753G>A, NC_000006.11:g.33600530G>A, NG_027729.1:g.16375G>A, NR_134628.1:n.643C>T

Select item 14764650697.

rs1476465069 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:33631304 (GRCh38)
6:33599081 (GRCh37)
Canonical SPDI:: NC_000006.12:33631303:G:A
Gene:: ITPR3 (Varview), ITPR3-AS1 (Varview), LOC124901305 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000021/3 (GnomAD)
A=0.000212/4 (TOMMO)
A=0.000312/2 (1000Genomes)
HGVS:: NC_000006.12:g.33631304G>A, NC_000006.11:g.33599081G>A, NG_027729.1:g.14926G>A, NR_134628.1:n.2092C>T

Select item 14750562588.

rs1475056258 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:33632773 (GRCh38)
6:33600550 (GRCh37)
Canonical SPDI:: NC_000006.12:33632772:C:T
Gene:: ITPR3 (Varview), ITPR3-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000006.12:g.33632773C>T, NC_000006.11:g.33600550C>T, NG_027729.1:g.16395C>T, NR_134628.1:n.623G>A

Select item 14736862439.

rs1473686243 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 6:33633452 (GRCh38)
6:33601229 (GRCh37)
Canonical SPDI:: NC_000006.12:33633451:G:A,NC_000006.12:33633451:G:T
Gene:: ITPR3 (Varview), ITPR3-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000006.12:g.33633452G>A, NC_000006.12:g.33633452G>T, NC_000006.11:g.33601229G>A, NC_000006.11:g.33601229G>T, NG_027729.1:g.17074G>A, NG_027729.1:g.17074G>T, NR_134628.1:n.294C>T, NR_134628.1:n.294C>A

Select item 147325904110.

rs1473259041 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:33631701 (GRCh38)
6:33599478 (GRCh37)
Canonical SPDI:: NC_000006.12:33631700:G:A
Gene:: ITPR3 (Varview), ITPR3-AS1 (Varview), LOC124901305 (Varview)
Functional Consequence:: non_coding_transcript_variant,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_000006.12:g.33631701G>A, NC_000006.11:g.33599478G>A, NG_027729.1:g.15323G>A, NR_134628.1:n.1695C>T, XR_007059550.1:n.610G>A

Select item 147033564211.

rs1470335642 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 6:33631288 (GRCh38)
6:33599065 (GRCh37)
Canonical SPDI:: NC_000006.12:33631287:G:A,NC_000006.12:33631287:G:T
Gene:: ITPR3 (Varview), ITPR3-AS1 (Varview), LOC124901305 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.33631288G>A, NC_000006.12:g.33631288G>T, NC_000006.11:g.33599065G>A, NC_000006.11:g.33599065G>T, NG_027729.1:g.14910G>A, NG_027729.1:g.14910G>T, NR_134628.1:n.2108C>T, NR_134628.1:n.2108C>A

Select item 146934608712.

rs1469346087 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 6:33633660 (GRCh38)
6:33601437 (GRCh37)
Canonical SPDI:: NC_000006.12:33633659:G:A,NC_000006.12:33633659:G:C
Gene:: ITPR3 (Varview), ITPR3-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.33633660G>A, NC_000006.12:g.33633660G>C, NC_000006.11:g.33601437G>A, NC_000006.11:g.33601437G>C, NG_027729.1:g.17282G>A, NG_027729.1:g.17282G>C, NR_134628.1:n.86C>T, NR_134628.1:n.86C>G

Select item 146896872413.

rs1468968724 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:33632444 (GRCh38)
6:33600221 (GRCh37)
Canonical SPDI:: NC_000006.12:33632443:C:G
Gene:: ITPR3 (Varview), ITPR3-AS1 (Varview), LOC124901305 (Varview)
Functional Consequence:: downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.00003/8 (TOPMED)
G=0.000043/6 (GnomAD)
HGVS:: NC_000006.12:g.33632444C>G, NC_000006.11:g.33600221C>G, NG_027729.1:g.16066C>G, NR_134628.1:n.952G>C

Select item 146677739114.

rs1466777391 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 6:33633645 (GRCh38)
6:33601422 (GRCh37)
Canonical SPDI:: NC_000006.12:33633644:A:T
Gene:: ITPR3 (Varview), ITPR3-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.33633645A>T, NC_000006.11:g.33601422A>T, NG_027729.1:g.17267A>T, NR_134628.1:n.101T>A

Select item 146582359915.

rs1465823599 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:33633427 (GRCh38)
6:33601204 (GRCh37)
Canonical SPDI:: NC_000006.12:33633426:G:C
Gene:: ITPR3 (Varview), ITPR3-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.33633427G>C, NC_000006.11:g.33601204G>C, NG_027729.1:g.17049G>C, NR_134628.1:n.319C>G

Select item 146566544716.

rs1465665447 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:33632294 (GRCh38)
6:33600071 (GRCh37)
Canonical SPDI:: NC_000006.12:33632293:T:G
Gene:: ITPR3 (Varview), ITPR3-AS1 (Varview), LOC124901305 (Varview)
Functional Consequence:: 500B_downstream_variant,non_coding_transcript_variant,downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.33632294T>G, NC_000006.11:g.33600071T>G, NG_027729.1:g.15916T>G, NR_134628.1:n.1102A>C

Select item 146409303817.

rs1464093038 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:33632873 (GRCh38)
6:33600650 (GRCh37)
Canonical SPDI:: NC_000006.12:33632872:G:A
Gene:: ITPR3 (Varview), ITPR3-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.33632873G>A, NC_000006.11:g.33600650G>A, NG_027729.1:g.16495G>A, NR_134628.1:n.523C>T

Select item 146347446218.

rs1463474462 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:33631571 (GRCh38)
6:33599348 (GRCh37)
Canonical SPDI:: NC_000006.12:33631570:G:C
Gene:: ITPR3 (Varview), ITPR3-AS1 (Varview), LOC124901305 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000006.12:g.33631571G>C, NC_000006.11:g.33599348G>C, NG_027729.1:g.15193G>C, NR_134628.1:n.1825C>G, XR_007059550.1:n.480G>C

Select item 146309751819.

rs1463097518 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:33633695 (GRCh38)
6:33601472 (GRCh37)
Canonical SPDI:: NC_000006.12:33633694:C:T
Gene:: ITPR3 (Varview), ITPR3-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.33633695C>T, NC_000006.11:g.33601472C>T, NG_027729.1:g.17317C>T, NR_134628.1:n.51G>A

Select item 145868172920.

rs1458681729 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 6:33632923 (GRCh38)
6:33600700 (GRCh37)
Canonical SPDI:: NC_000006.12:33632922:G:A,NC_000006.12:33632922:G:C,NC_000006.12:33632922:G:T
Gene:: ITPR3 (Varview), ITPR3-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000006.12:g.33632923G>A, NC_000006.12:g.33632923G>C, NC_000006.12:g.33632923G>T, NC_000006.11:g.33600700G>A, NC_000006.11:g.33600700G>C, NC_000006.11:g.33600700G>T, NG_027729.1:g.16545G>A, NG_027729.1:g.16545G>C, NG_027729.1:g.16545G>T, NR_134628.1:n.473C>T, NR_134628.1:n.473C>G, NR_134628.1:n.473C>A

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