SNP Links for Gene (Select 8351) - SNP

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Select item 14914581201.

rs1491458120 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 6:26198880 (GRCh38)
6:26199108 (GRCh37)
Canonical SPDI:: NC_000006.12:26198879:CA:
Gene:: H2AC7 (Varview), H2BC7 (Varview), H3C4 (Varview)
Functional Consequence:: upstream_transcript_variant,5_prime_UTR_variant,coding_sequence_variant,2KB_upstream_variant,frameshift_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00003/8 (TOPMED)
-=0.000033/4 (ExAC)
-=0.000043/6 (GnomAD)
-=0.000044/11 (GnomAD_exomes)
-=0.000071/1 (TOMMO)
HGVS:: NC_000006.12:g.26198880_26198881del, NC_000006.11:g.26199108_26199109del, NM_003530.4:c.-42_-41del, NM_021065.3:c.363_364del, NP_066409.1:p.His124fs

Select item 14907901272.

rs1490790127 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:26199744 (GRCh38)
6:26199972 (GRCh37)
Canonical SPDI:: NC_000006.12:26199743:C:T
Gene:: H2AC7 (Varview), H2BC7 (Varview), H3C4 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000094/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.26199744C>T, NC_000006.11:g.26199972C>T, NM_003522.4:c.186C>T, NM_003522.3:c.186C>T

Select item 14907829553.

rs1490782955 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 6:26199317 (GRCh38)
6:26199546 (GRCh37)
Canonical SPDI:: NC_000006.12:26199317:T:TT
Gene:: H2AC7 (Varview), H2BC7 (Varview), H3C4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.26199318dup, NC_000006.11:g.26199546dup

Select item 14906267904.

rs1490626790 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 6:26199562 (GRCh38)
6:26199790 (GRCh37)
Canonical SPDI:: NC_000006.12:26199561:C:A,NC_000006.12:26199561:C:T
Gene:: H2AC7 (Varview), H2BC7 (Varview), H3C4 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.26199562C>A, NC_000006.12:g.26199562C>T, NC_000006.11:g.26199790C>A, NC_000006.11:g.26199790C>T, NM_003522.4:c.4C>A, NM_003522.4:c.4C>T, NM_003522.3:c.4C>A, NM_003522.3:c.4C>T, NP_003513.1:p.Pro2Thr, NP_003513.1:p.Pro2Ser

Select item 14903598985.

rs1490359898 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:26199951 (GRCh38)
6:26200179 (GRCh37)
Canonical SPDI:: NC_000006.12:26199950:T:G
Gene:: H2AC7 (Varview), H2BC7 (Varview), H3C4 (Varview)
Functional Consequence:: 2KB_upstream_variant,3_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
G=0.000071/1 (TOMMO)
HGVS:: NC_000006.12:g.26199951T>G, NC_000006.11:g.26200179T>G, NM_003522.4:c.*12T>G, NM_003522.3:c.*12T>G

Select item 14898024116.

rs1489802411 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:26199789 (GRCh38)
6:26200017 (GRCh37)
Canonical SPDI:: NC_000006.12:26199788:G:A
Gene:: H2AC7 (Varview), H2BC7 (Varview), H3C4 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.26199789G>A, NC_000006.11:g.26200017G>A, NM_003522.4:c.231G>A, NM_003522.3:c.231G>A

Select item 14897648147.

rs1489764814 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:26201060 (GRCh38)
6:26201288 (GRCh37)
Canonical SPDI:: NC_000006.12:26201059:C:A
Gene:: H2AC7 (Varview), H3C4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
HGVS:: NC_000006.12:g.26201060C>A, NC_000006.11:g.26201288C>A

Select item 14895089388.

rs1489508938 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:26198697 (GRCh38)
6:26198925 (GRCh37)
Canonical SPDI:: NC_000006.12:26198696:A:G
Gene:: H2AC7 (Varview), H2BC7 (Varview), H3C4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0./0 (Korea1K)
HGVS:: NC_000006.12:g.26198697A>G, NC_000006.11:g.26198925A>G

Select item 14894379589.

rs1489437958 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:26198163 (GRCh38)
6:26198391 (GRCh37)
Canonical SPDI:: NC_000006.12:26198162:T:G
Gene:: H2BC7 (Varview), H3C4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.26198163T>G, NC_000006.11:g.26198391T>G

Select item 148904087210.

rs1489040872 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 6:26199786 (GRCh38)
6:26200014 (GRCh37)
Canonical SPDI:: NC_000006.12:26199785:C:G,NC_000006.12:26199785:C:T
Gene:: H2AC7 (Varview), H2BC7 (Varview), H3C4 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.26199786C>G, NC_000006.12:g.26199786C>T, NC_000006.11:g.26200014C>G, NC_000006.11:g.26200014C>T, NM_003522.4:c.228C>G, NM_003522.4:c.228C>T, NM_003522.3:c.228C>G, NM_003522.3:c.228C>T

Select item 148885341111.

rs1488853411 has merged into rs1190630706 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGTAA>-,A [Show Flanks]
Chromosome:: 6:26200404 (GRCh38)
6:26200632 (GRCh37)
Canonical SPDI:: NC_000006.12:26200402:AAGTAA:A,NC_000006.12:26200402:AAGTAA:AA
Gene:: H2AC7 (Varview), H2BC7 (Varview), H3C4 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
-=0.000036/5 (GnomAD)
HGVS:: NC_000006.12:g.26200404_26200408del, NC_000006.12:g.26200405_26200408del, NC_000006.11:g.26200632_26200636del, NC_000006.11:g.26200633_26200636del

Select item 148879503312.

rs1488795033 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:26200815 (GRCh38)
6:26201043 (GRCh37)
Canonical SPDI:: NC_000006.12:26200814:A:C
Gene:: H2AC7 (Varview), H3C4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.26200815A>C, NC_000006.11:g.26201043A>C

Select item 148751684513.

rs1487516845 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:26200592 (GRCh38)
6:26200820 (GRCh37)
Canonical SPDI:: NC_000006.12:26200591:T:C
Gene:: H2AC7 (Varview), H3C4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.26200592T>C, NC_000006.11:g.26200820T>C

Select item 148745314314.

rs1487453143 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:26198805 (GRCh38)
6:26199033 (GRCh37)
Canonical SPDI:: NC_000006.12:26198804:T:A
Gene:: H2AC7 (Varview), H2BC7 (Varview), H3C4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,3_prime_UTR_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.26198805T>A, NC_000006.11:g.26199033T>A, NM_021065.3:c.*46A>T

Select item 148691475215.

rs1486914752 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:26197477 (GRCh38)
6:26197705 (GRCh37)
Canonical SPDI:: NC_000006.12:26197476:G:A
Gene:: H3C4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000023/6 (TOPMED)
HGVS:: NC_000006.12:g.26197477G>A, NC_000006.11:g.26197705G>A

Select item 148690984316.

rs1486909843 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:26196725 (GRCh38)
6:26196953 (GRCh37)
Canonical SPDI:: NC_000006.12:26196724:G:A
Gene:: H3C4 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
A=0.000177/3 (TOMMO)
A=0.000342/1 (KOREAN)
G=0.5/1 (Siberian)
HGVS:: NC_000006.12:g.26196725G>A, NC_000006.11:g.26196953G>A

Select item 148633030017.

rs1486330300 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 6:26196529 (GRCh38)
6:26196757 (GRCh37)
Canonical SPDI:: NC_000006.12:26196528:G:A,NC_000006.12:26196528:G:T
Gene:: H3C4 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.26196529G>A, NC_000006.12:g.26196529G>T, NC_000006.11:g.26196757G>A, NC_000006.11:g.26196757G>T

Select item 148599838618.

rs1485998386 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 6:26199138 (GRCh38)
6:26199366 (GRCh37)
Canonical SPDI:: NC_000006.12:26199137:G:A,NC_000006.12:26199137:G:C
Gene:: H2AC7 (Varview), H2BC7 (Varview), H3C4 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.26199138G>A, NC_000006.12:g.26199138G>C, NC_000006.11:g.26199366G>A, NC_000006.11:g.26199366G>C, NM_003530.4:c.-299C>T, NM_003530.4:c.-299C>G, NM_021065.3:c.106C>T, NM_021065.3:c.106C>G, NP_066409.1:p.Arg36Cys, NP_066409.1:p.Arg36Gly

Select item 148595796119.

rs1485957961 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:26197752 (GRCh38)
6:26197980 (GRCh37)
Canonical SPDI:: NC_000006.12:26197751:C:T
Gene:: H2BC7 (Varview), H3C4 (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=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.26197752C>T, NC_000006.11:g.26197980C>T

Select item 148518769520.

rs1485187695 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:26197833 (GRCh38)
6:26198061 (GRCh37)
Canonical SPDI:: NC_000006.12:26197832:A:C
Gene:: H2BC7 (Varview), H3C4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000084/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.26197833A>C, NC_000006.11:g.26198061A>C

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