SNP Links for Gene (Select 8347) - SNP

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Select item 14910769041.

rs1491076904 has merged into rs571693984 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,TT,TTTT [Show Flanks]
Chromosome:: 6:26125057 (GRCh38)
6:26125285 (GRCh37)
Canonical SPDI:: NC_000006.12:26125052:TTTTTTT:TTTT,NC_000006.12:26125052:TTTTTTT:TTTTTT,NC_000006.12:26125052:TTTTTTT:TTTTTTTT
Gene:: H2AC6 (Varview), H2BC4 (Varview)
Functional Consequence:: upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
-=0.002/2 (GoNL)
-=0.00234/12 (1000Genomes)
-=0.00357/16 (Estonian)
HGVS:: NC_000006.12:g.26125057_26125059del, NC_000006.12:g.26125059del, NC_000006.12:g.26125059dup, NC_000006.11:g.26125285_26125287del, NC_000006.11:g.26125287del, NC_000006.11:g.26125287dup

Select item 14907901592.

rs1490790159 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:26125457 (GRCh38)
6:26125685 (GRCh37)
Canonical SPDI:: NC_000006.12:26125456:T:G
Gene:: H2BC4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000019/5 (TOPMED)
G=0.000029/4 (GnomAD)
HGVS:: NC_000006.12:g.26125457T>G, NC_000006.11:g.26125685T>G

Select item 14894493583.

rs1489449358 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:26124686 (GRCh38)
6:26124914 (GRCh37)
Canonical SPDI:: NC_000006.12:26124685:C:T
Gene:: H2AC6 (Varview), H2BC4 (Varview)
Functional Consequence:: 2KB_upstream_variant,3_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.26124686C>T, NC_000006.11:g.26124914C>T, NM_003512.4:c.*61C>T, NM_003512.3:c.*61C>T

Select item 14893894964.

rs1489389496 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:26124119 (GRCh38)
6:26124347 (GRCh37)
Canonical SPDI:: NC_000006.12:26124118:G:A
Gene:: H2AC6 (Varview), H2BC4 (Varview)
Functional Consequence:: 2KB_upstream_variant,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_000006.12:g.26124119G>A, NC_000006.11:g.26124347G>A

Select item 14891754925.

rs1489175492 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:26124875 (GRCh38)
6:26125103 (GRCh37)
Canonical SPDI:: NC_000006.12:26124874:A:G
Gene:: H2AC6 (Varview), H2BC4 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,500B_downstream_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_000006.12:g.26124875A>G, NC_000006.11:g.26125103A>G

Select item 14886266546.

rs1488626654 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 6:26125149 (GRCh38)
6:26125377 (GRCh37)
Canonical SPDI:: NC_000006.12:26125146:AAAA:AA
Gene:: H2AC6 (Varview), H2BC4 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: AAAA=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.26125149_26125150del, NC_000006.11:g.26125377_26125378del

Select item 14876721957.

rs1487672195 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:26125305 (GRCh38)
6:26125533 (GRCh37)
Canonical SPDI:: NC_000006.12:26125304:C:T
Gene:: H2BC4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000034/9 (TOPMED)
T=0.000064/9 (GnomAD)
HGVS:: NC_000006.12:g.26125305C>T, NC_000006.11:g.26125533C>T

Select item 14876423908.

rs1487642390 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 6:26123188 (GRCh38)
6:26123416 (GRCh37)
Canonical SPDI:: NC_000006.12:26123187:A:T
Gene:: H2AC6 (Varview), H2BC4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_variant,genic_downstream_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.26123188A>T, NC_000006.11:g.26123416A>T

Select item 14875352189.

rs1487535218 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:26125129 (GRCh38)
6:26125357 (GRCh37)
Canonical SPDI:: NC_000006.12:26125128:G:C
Gene:: H2AC6 (Varview), H2BC4 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,500B_downstream_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_000006.12:g.26125129G>C, NC_000006.11:g.26125357G>C

Select item 148750404410.

rs1487504044 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:26125872 (GRCh38)
6:26126100 (GRCh37)
Canonical SPDI:: NC_000006.12:26125871:T:A
Gene:: H2BC4 (Varview)
Functional Consequence:: 2KB_upstream_variant,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_000006.12:g.26125872T>A, NC_000006.11:g.26126100T>A

Select item 148721479111.

rs1487214791 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 6:26125451 (GRCh38)
6:26125679 (GRCh37)
Canonical SPDI:: NC_000006.12:26125450:A:C,NC_000006.12:26125450:A:G
Gene:: H2BC4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.26125451A>C, NC_000006.12:g.26125451A>G, NC_000006.11:g.26125679A>C, NC_000006.11:g.26125679A>G

Select item 148614375412.

rs1486143754 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:26124152 (GRCh38)
6:26124380 (GRCh37)
Canonical SPDI:: NC_000006.12:26124151:C:T
Gene:: H2AC6 (Varview), H2BC4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_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.26124152C>T, NC_000006.11:g.26124380C>T, NM_003512.3:c.-81C>T

Select item 148587564713.

rs1485875647 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:26123842 (GRCh38)
6:26124070 (GRCh37)
Canonical SPDI:: NC_000006.12:26123841:T:A
Gene:: H2AC6 (Varview), H2BC4 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,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_000006.12:g.26123842T>A, NC_000006.11:g.26124070T>A, NM_003526.3:c.63A>T, NM_003526.2:c.63A>T, NM_001381989.1:c.63A>T, NP_003517.2:p.Lys21Asn, NP_001368918.1:p.Lys21Asn

Select item 148477600814.

rs1484776008 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 6:26123207 (GRCh38)
6:26123435 (GRCh37)
Canonical SPDI:: NC_000006.12:26123206:G:A,NC_000006.12:26123206:G:T
Gene:: H2AC6 (Varview), H2BC4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.26123207G>A, NC_000006.12:g.26123207G>T, NC_000006.11:g.26123435G>A, NC_000006.11:g.26123435G>T

Select item 148410635815.

rs1484106358 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:26125518 (GRCh38)
6:26125746 (GRCh37)
Canonical SPDI:: NC_000006.12:26125517:G:A
Gene:: H2BC4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.26125518G>A, NC_000006.11:g.26125746G>A

Select item 148401728816.

rs1484017288 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 6:26124624 (GRCh38)
6:26124852 (GRCh37)
Canonical SPDI:: NC_000006.12:26124623:G:A,NC_000006.12:26124623:G:T
Gene:: H2AC6 (Varview), H2BC4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,stop_lost,synonymous_variant,terminator_codon_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.26124624G>A, NC_000006.12:g.26124624G>T, NC_000006.11:g.26124852G>A, NC_000006.11:g.26124852G>T, NM_003512.4:c.392G>A, NM_003512.4:c.392G>T, NM_003512.3:c.392G>A, NM_003512.3:c.392G>T, NP_003503.1:p.Ter131Leu

Select item 148398271817.

rs1483982718 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:26124342 (GRCh38)
6:26124570 (GRCh37)
Canonical SPDI:: NC_000006.12:26124341:A:C
Gene:: H2AC6 (Varview), H2BC4 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
HGVS:: NC_000006.12:g.26124342A>C, NC_000006.11:g.26124570A>C, NM_003512.4:c.110A>C, NM_003512.3:c.110A>C, NP_003503.1:p.Lys37Thr

Select item 148358370918.

rs1483583709 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 6:26123790 (GRCh38)
6:26124018 (GRCh37)
Canonical SPDI:: NC_000006.12:26123787:AGAG:AG
Gene:: H2AC6 (Varview), H2BC4 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.26123788AG[1], NC_000006.11:g.26124016AG[1], NM_003526.3:c.116_117del, NM_003526.2:c.116_117del, NM_001381989.1:c.116_117del, NP_003517.2:p.Ser39fs, NP_001368918.1:p.Ser39fs

Select item 148306034619.

rs1483060346 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:26124618 (GRCh38)
6:26124846 (GRCh37)
Canonical SPDI:: NC_000006.12:26124617:G:C
Gene:: H2AC6 (Varview), H2BC4 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.26124618G>C, NC_000006.11:g.26124846G>C, NM_003512.4:c.386G>C, NM_003512.3:c.386G>C, NP_003503.1:p.Gly129Ala

Select item 148300051520.

rs1483000515 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:26124571 (GRCh38)
6:26124799 (GRCh37)
Canonical SPDI:: NC_000006.12:26124570:G:A
Gene:: H2AC6 (Varview), H2BC4 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (GnomAD)
A=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000006.12:g.26124571G>A, NC_000006.11:g.26124799G>A, NM_003512.4:c.339G>A, NM_003512.3:c.339G>A

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