SNP Links for Gene (Select 3006) - SNP

Links from Gene

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Select item 14892284201.

rs1489228420 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:26057028 (GRCh38)
6:26057256 (GRCh37)
Canonical SPDI:: NC_000006.12:26057027:C:G
Gene:: H1-2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00122/13 (ALFA)
G=0.00172/48 (TOMMO)
G=0.00825/24 (KOREAN)
HGVS:: NC_000006.12:g.26057028C>G, NC_000006.11:g.26057256C>G

Select item 14891562472.

rs1489156247 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 6:26057964 (GRCh38)
6:26058192 (GRCh37)
Canonical SPDI:: NC_000006.12:26057963:A:T
Gene:: H1-2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_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_000006.12:g.26057964A>T, NC_000006.11:g.26058192A>T

Select item 14873314673.

rs1487331467 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 6:26055403 (GRCh38)
6:26055631 (GRCh37)
Canonical SPDI:: NC_000006.12:26055402:G:A,NC_000006.12:26055402:G:C
Gene:: H1-2 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000021/3 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000006.12:g.26055403G>A, NC_000006.12:g.26055403G>C, NC_000006.11:g.26055631G>A, NC_000006.11:g.26055631G>C

Select item 14867830204.

rs1486783020 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:26056967 (GRCh38)
6:26057195 (GRCh37)
Canonical SPDI:: NC_000006.12:26056966:C:G
Gene:: H1-2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.26056967C>G, NC_000006.11:g.26057195C>G

Select item 14862917115.

rs1486291711 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:26058344 (GRCh38)
6:26058572 (GRCh37)
Canonical SPDI:: NC_000006.12:26058343:A:G
Gene:: H1-2 (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)
G=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.26058344A>G, NC_000006.11:g.26058572A>G

Select item 14862837626.

rs1486283762 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 6:26055978 (GRCh38)
6:26056206 (GRCh37)
Canonical SPDI:: NC_000006.12:26055977:C:A,NC_000006.12:26055977:C:G,NC_000006.12:26055977:C:T
Gene:: H1-2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.26055978C>A, NC_000006.12:g.26055978C>G, NC_000006.12:g.26055978C>T, NC_000006.11:g.26056206C>A, NC_000006.11:g.26056206C>G, NC_000006.11:g.26056206C>T, NM_005319.4:c.451G>T, NM_005319.4:c.451G>C, NM_005319.4:c.451G>A, NM_005319.3:c.451G>T, NM_005319.3:c.451G>C, NM_005319.3:c.451G>A, NP_005310.1:p.Ala151Ser, NP_005310.1:p.Ala151Pro, NP_005310.1:p.Ala151Thr

Select item 14858575027.

rs1485857502 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 6:26055513 (GRCh38)
6:26055742 (GRCh37)
Canonical SPDI:: NC_000006.12:26055513::T
Gene:: H1-2 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.26055513_26055514insT, NC_000006.11:g.26055741_26055742insT

Select item 14853933338.

rs1485393333 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 6:26056108 (GRCh38)
6:26056336 (GRCh37)
Canonical SPDI:: NC_000006.12:26056107:G:A,NC_000006.12:26056107:G:C,NC_000006.12:26056107:G:T
Gene:: H1-2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000006.12:g.26056108G>A, NC_000006.12:g.26056108G>C, NC_000006.12:g.26056108G>T, NC_000006.11:g.26056336G>A, NC_000006.11:g.26056336G>C, NC_000006.11:g.26056336G>T, NM_005319.4:c.321C>T, NM_005319.4:c.321C>G, NM_005319.4:c.321C>A, NM_005319.3:c.321C>T, NM_005319.3:c.321C>G, NM_005319.3:c.321C>A

Select item 14848840679.

rs1484884067 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 6:26056844 (GRCh38)
6:26057072 (GRCh37)
Canonical SPDI:: NC_000006.12:26056843:G:A,NC_000006.12:26056843:G:C
Gene:: H1-2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000006.12:g.26056844G>A, NC_000006.12:g.26056844G>C, NC_000006.11:g.26057072G>A, NC_000006.11:g.26057072G>C

Select item 148483251110.

rs1484832511 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:26057800 (GRCh38)
6:26058028 (GRCh37)
Canonical SPDI:: NC_000006.12:26057799:C:T
Gene:: H1-2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_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_000006.12:g.26057800C>T, NC_000006.11:g.26058028C>T

Select item 148472430111.

rs1484724301 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:26055309 (GRCh38)
6:26055537 (GRCh37)
Canonical SPDI:: NC_000006.12:26055308:T:C
Gene:: H1-2 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.26055309T>C, NC_000006.11:g.26055537T>C

Select item 148454295212.

rs1484542952 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 6:26056371 (GRCh38)
6:26056599 (GRCh37)
Canonical SPDI:: NC_000006.12:26056370:C:A,NC_000006.12:26056370:C:T
Gene:: H1-2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.26056371C>A, NC_000006.12:g.26056371C>T, NC_000006.11:g.26056599C>A, NC_000006.11:g.26056599C>T, NM_005319.4:c.58G>T, NM_005319.4:c.58G>A, NM_005319.3:c.58G>T, NM_005319.3:c.58G>A, NP_005310.1:p.Val20Leu, NP_005310.1:p.Val20Ile

Select item 148356662713.

rs1483566627 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:26056140 (GRCh38)
6:26056368 (GRCh37)
Canonical SPDI:: NC_000006.12:26056139:T:A
Gene:: H1-2 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
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.26056140T>A, NC_000006.11:g.26056368T>A, NM_005319.4:c.289A>T, NM_005319.3:c.289A>T, NP_005310.1:p.Lys97Ter

Select item 148227929714.

rs1482279297 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CACC [Show Flanks]
Chromosome:: 6:26056592 (GRCh38)
6:26056821 (GRCh37)
Canonical SPDI:: NC_000006.12:26056592:CCACC:CCACCCACC
Gene:: H1-2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CCACCCACC=0./0 (ALFA)
CCAC=0.000021/3 (GnomAD)
HGVS:: NC_000006.12:g.26056594_26056597dup, NC_000006.11:g.26056822_26056825dup

Select item 148138820015.

rs1481388200 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 6:26055676 (GRCh38)
6:26055904 (GRCh37)
Canonical SPDI:: NC_000006.12:26055675:T:C,NC_000006.12:26055675:T:G
Gene:: H1-2 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000006.12:g.26055676T>C, NC_000006.12:g.26055676T>G, NC_000006.11:g.26055904T>C, NC_000006.11:g.26055904T>G

Select item 148137725316.

rs1481377253 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:26055527 (GRCh38)
6:26055755 (GRCh37)
Canonical SPDI:: NC_000006.12:26055526:A:C
Gene:: H1-2 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.26055527A>C, NC_000006.11:g.26055755A>C

Select item 148019766517.

rs1480197665 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:26055674 (GRCh38)
6:26055902 (GRCh37)
Canonical SPDI:: NC_000006.12:26055673:A:C
Gene:: H1-2 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000019/5 (TOPMED)
HGVS:: NC_000006.12:g.26055674A>C, NC_000006.11:g.26055902A>C

Select item 147929567718.

rs1479295677 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 6:26056429 (GRCh38)
6:26056657 (GRCh37)
Canonical SPDI:: NC_000006.12:26056428:G:A,NC_000006.12:26056428:G:C
Gene:: H1-2 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.26056429G>A, NC_000006.12:g.26056429G>C, NC_000006.11:g.26056657G>A, NC_000006.11:g.26056657G>C, NM_005319.4:c.-1C>T, NM_005319.4:c.-1C>G, NM_005319.3:c.-1C>T, NM_005319.3:c.-1C>G

Select item 147885188719.

rs1478851887 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 6:26056813 (GRCh38)
6:26057041 (GRCh37)
Canonical SPDI:: NC_000006.12:26056812:C:A,NC_000006.12:26056812:C:T
Gene:: H1-2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.26056813C>A, NC_000006.12:g.26056813C>T, NC_000006.11:g.26057041C>A, NC_000006.11:g.26057041C>T

Select item 147783953920.

rs1477839539 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:26055391 (GRCh38)
6:26055619 (GRCh37)
Canonical SPDI:: NC_000006.12:26055390:A:C
Gene:: H1-2 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000019/5 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000006.12:g.26055391A>C, NC_000006.11:g.26055619A>C

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