SNP Links for Gene (Select 137392) - SNP

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Select item 14911821761.

rs1491182176 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 8:93699814 (GRCh38)
8:94712042 (GRCh37)
Canonical SPDI:: NC_000008.11:93699810:GAGAG:GAG
Gene:: CIBAR1 (Varview), CIBAR1-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAG=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.93699812AG[1], NC_000008.10:g.94712040AG[1]

Select item 14911052332.

rs1491105233 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATA [Show Flanks]
Chromosome:: 8:93699811 (GRCh38)
8:94712040 (GRCh37)
Canonical SPDI:: NC_000008.11:93699811:A:AATA
Gene:: CIBAR1 (Varview), CIBAR1-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AATA=0.000084/1 (ALFA)
AAT=0.000057/8 (GnomAD)
HGVS:: NC_000008.11:g.93699812_93699813insATA, NC_000008.10:g.94712040_94712041insATA

Select item 14910118463.

rs1491011846 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 8:93713033 (GRCh38)
8:94725261 (GRCh37)
Canonical SPDI:: NC_000008.11:93713031:TCT:T
Gene:: CIBAR1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.00008/1 (ALFA)
HGVS:: NC_000008.11:g.93713033_93713034del, NC_000008.10:g.94725261_94725262del

Select item 14908977804.

rs1490897780 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 8:93726893 (GRCh38)
8:94739121 (GRCh37)
Canonical SPDI:: NC_000008.11:93726892:A:T
Gene:: CIBAR1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.93726893A>T, NC_000008.10:g.94739121A>T

Select item 14908339895.

rs1490833989 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:93701688 (GRCh38)
8:94713916 (GRCh37)
Canonical SPDI:: NC_000008.11:93701687:A:G
Gene:: CIBAR1 (Varview), CIBAR1-DT (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.93701688A>G, NC_000008.10:g.94713916A>G

Select item 14907209766.

rs1490720976 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:93702564 (GRCh38)
8:94714792 (GRCh37)
Canonical SPDI:: NC_000008.11:93702563:C:T
Gene:: CIBAR1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.00007/1 (ALFA)
HGVS:: NC_000008.11:g.93702564C>T, NC_000008.10:g.94714792C>T

Select item 14906686777.

rs1490668677 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 8:93701116 (GRCh38)
8:94713344 (GRCh37)
Canonical SPDI:: NC_000008.11:93701115:C:G,NC_000008.11:93701115:C:T
Gene:: CIBAR1 (Varview), CIBAR1-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
G=0.000035/1 (TOMMO)
HGVS:: NC_000008.11:g.93701116C>G, NC_000008.11:g.93701116C>T, NC_000008.10:g.94713344C>G, NC_000008.10:g.94713344C>T

Select item 14905787948.

rs1490578794 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 8:93718041 (GRCh38)
8:94730269 (GRCh37)
Canonical SPDI:: NC_000008.11:93718040:A:C
Gene:: CIBAR1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000008.11:g.93718041A>C, NC_000008.10:g.94730269A>C

Select item 14905195099.

rs1490519509 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:93700636 (GRCh38)
8:94712864 (GRCh37)
Canonical SPDI:: NC_000008.11:93700635:G:A
Gene:: CIBAR1 (Varview), CIBAR1-DT (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.93700636G>A, NC_000008.10:g.94712864G>A, NM_145269.5:c.-12G>A, NM_145269.4:c.-12G>A, NM_145269.3:c.-12G>A, NR_156451.2:n.87G>A, NR_156451.1:n.87G>A, NR_156452.2:n.87G>A, NR_156452.1:n.87G>A, NR_104267.2:n.87G>A, NR_104267.1:n.130G>A, NR_104268.2:n.87G>A, NR_104268.1:n.130G>A, NR_156453.2:n.87G>A, NR_156453.1:n.87G>A, NM_001283034.2:c.-12G>A, NM_001283034.1:c.-12G>A, XR_001745468.2:n.87G>A, XR_001745468.1:n.87G>A, XM_047421350.1:c.-12G>A, XR_007060694.1:n.87G>A

Select item 149050466210.

rs1490504662 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:93698988 (GRCh38)
8:94711216 (GRCh37)
Canonical SPDI:: NC_000008.11:93698987:G:A
Gene:: CIBAR1 (Varview), CIBAR1-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.93698988G>A, NC_000008.10:g.94711216G>A

Select item 149034010711.

rs1490340107 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 8:93700028 (GRCh38)
8:94712256 (GRCh37)
Canonical SPDI:: NC_000008.11:93700027:G:C
Gene:: CIBAR1 (Varview), CIBAR1-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.93700028G>C, NC_000008.10:g.94712256G>C, NR_033858.1:n.406C>G

Select item 149028578412.

rs1490285784 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 8:93732271 (GRCh38)
8:94744499 (GRCh37)
Canonical SPDI:: NC_000008.11:93732270:A:T
Gene:: RBM12B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.93732271A>T, NC_000008.10:g.94744499A>T, NM_203390.4:c.*1134T>A, NM_203390.3:c.*1134T>A, NM_203390.2:c.*1134T>A, XM_017013408.3:c.*1134T>A, XM_017013408.2:c.*1134T>A, XM_017013408.1:c.*1134T>A, XM_011517029.3:c.*1134T>A, XM_011517029.2:c.*1134T>A, XM_047421771.1:c.*1134T>A, XM_047421773.1:c.*1134T>A, XM_047421772.1:c.*1134T>A, NM_001377961.1:c.*1134T>A, NM_001377960.1:c.*1134T>A, NM_001377962.1:c.*1134T>A, NM_001377963.1:c.*1134T>A, NM_001377964.1:c.*1134T>A

Select item 149017208813.

rs1490172088 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAAA>- [Show Flanks]
Chromosome:: 8:93725531 (GRCh38)
8:94737759 (GRCh37)
Canonical SPDI:: NC_000008.11:93725527:AAAGAAA:AAA
Gene:: CIBAR1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: AAA=0.000084/1 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.93725531_93725534del, NC_000008.10:g.94737759_94737762del

Select item 149008486114.

rs1490084861 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:93715998 (GRCh38)
8:94728226 (GRCh37)
Canonical SPDI:: NC_000008.11:93715997:C:T
Gene:: CIBAR1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.93715998C>T, NC_000008.10:g.94728226C>T

Select item 149006101715.

rs1490061017 [Homo sapiens]

Variant type:: INS
Alleles:: ->TTTT [Show Flanks]
Chromosome:: 8:93718885 (GRCh38)
8:94731114 (GRCh37)
Canonical SPDI:: NC_000008.11:93718885::TTTT
Gene:: CIBAR1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TTTT=0.0004/2 (ALFA)
TTTT=0.0004/2 (Estonian)
HGVS:: NC_000008.11:g.93718885_93718886insTTTT, NC_000008.10:g.94731113_94731114insTTTT

Select item 149001239616.

rs1490012396 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 8:93725055 (GRCh38)
8:94737283 (GRCh37)
Canonical SPDI:: NC_000008.11:93725054:T:G
Gene:: CIBAR1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000008.11:g.93725055T>G, NC_000008.10:g.94737283T>G

Select item 148994312217.

rs1489943122 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 8:93707777 (GRCh38)
8:94720005 (GRCh37)
Canonical SPDI:: NC_000008.11:93707776:G:A,NC_000008.11:93707776:G:T
Gene:: CIBAR1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000008.11:g.93707777G>A, NC_000008.11:g.93707777G>T, NC_000008.10:g.94720005G>A, NC_000008.10:g.94720005G>T

Select item 148992528718.

rs1489925287 [Homo sapiens]

Variant type:: DELINS
Alleles:: AC>- [Show Flanks]
Chromosome:: 8:93717230 (GRCh38)
8:94729458 (GRCh37)
Canonical SPDI:: NC_000008.11:93717226:CACAC:CAC
Gene:: CIBAR1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: -=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.93717228AC[1], NC_000008.10:g.94729456AC[1]

Select item 148989935119.

rs1489899351 [Homo sapiens]

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

Select item 148982656320.

rs1489826563 [Homo sapiens]

Variant type:: DEL
Alleles:: TTTCA>- [Show Flanks]
Chromosome:: 8:93700119 (GRCh38)
8:94712347 (GRCh37)
Canonical SPDI:: NC_000008.11:93700118:TTTCA:
Gene:: CIBAR1 (Varview), CIBAR1-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.93700119_93700123del, NC_000008.10:g.94712347_94712351del, NR_033858.1:n.311_315del

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