SNP Links for Gene (Select 3024) - SNP

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Select item 14910198031.

rs1491019803 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 6:26017268 (GRCh38)
6:26017496 (GRCh37)
Canonical SPDI:: NC_000006.12:26017267:CT:
Gene:: H1-1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.26017268_26017269del, NC_000006.11:g.26017496_26017497del, NM_005325.4:c.464_465del, NM_005325.3:c.464_465del, NP_005316.1:p.Lys155fs

Select item 14908770402.

rs1490877040 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:26018422 (GRCh38)
6:26018650 (GRCh37)
Canonical SPDI:: NC_000006.12:26018421:G:C
Gene:: H1-1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_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.26018422G>C, NC_000006.11:g.26018650G>C

Select item 14879373203.

rs1487937320 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:26018513 (GRCh38)
6:26018741 (GRCh37)
Canonical SPDI:: NC_000006.12:26018512:G:T
Gene:: H1-1 (Varview), H3C1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.26018513G>T, NC_000006.11:g.26018741G>T

Select item 14879344634.

rs1487934463 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 6:26017920 (GRCh38)
6:26018149 (GRCh37)
Canonical SPDI:: NC_000006.12:26017920:GGGGG:GGGGGG
Gene:: H1-1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGG=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.26017925dup, NC_000006.11:g.26018153dup

Select item 14875812855.

rs1487581285 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 6:26017104 (GRCh38)
6:26017332 (GRCh37)
Canonical SPDI:: NC_000006.12:26017103:G:A,NC_000006.12:26017103:G:C,NC_000006.12:26017103:G:T
Gene:: H1-1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00005/1 (ALFA)
A=0.00022/1 (Estonian)
HGVS:: NC_000006.12:g.26017104G>A, NC_000006.12:g.26017104G>C, NC_000006.12:g.26017104G>T, NC_000006.11:g.26017332G>A, NC_000006.11:g.26017332G>C, NC_000006.11:g.26017332G>T, NM_005325.4:c.629C>T, NM_005325.4:c.629C>G, NM_005325.4:c.629C>A, NM_005325.3:c.629C>T, NM_005325.3:c.629C>G, NM_005325.3:c.629C>A, NP_005316.1:p.Ala210Val, NP_005316.1:p.Ala210Gly, NP_005316.1:p.Ala210Glu

Select item 14875581416.

rs1487558141 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 6:26016683 (GRCh38)
6:26016911 (GRCh37)
Canonical SPDI:: NC_000006.12:26016682:C:
Gene:: H1-1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.26016683del, NC_000006.11:g.26016911del, NG_029342.1:g.677del

Select item 14870928567.

rs1487092856 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:26018975 (GRCh38)
6:26019203 (GRCh37)
Canonical SPDI:: NC_000006.12:26018974:C:T
Gene:: H1-1 (Varview), H3C1 (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.26018975C>T, NC_000006.11:g.26019203C>T

Select item 14870599648.

rs1487059964 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:26017988 (GRCh38)
6:26018216 (GRCh37)
Canonical SPDI:: NC_000006.12:26017987:G:A
Gene:: H1-1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.26017988G>A, NC_000006.11:g.26018216G>A

Select item 14864954949.

rs1486495494 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:26017614 (GRCh38)
6:26017842 (GRCh37)
Canonical SPDI:: NC_000006.12:26017613:C:T
Gene:: H1-1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000047/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.26017614C>T, NC_000006.11:g.26017842C>T, NM_005325.4:c.119G>A, NM_005325.3:c.119G>A, NP_005316.1:p.Gly40Asp

Select item 148593811410.

rs1485938114 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGAT>- [Show Flanks]
Chromosome:: 6:26016892 (GRCh38)
6:26017120 (GRCh37)
Canonical SPDI:: NC_000006.12:26016888:GATAGAT:GAT
Gene:: H1-1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAT=0.000071/1 (ALFA)
-=0.000036/5 (GnomAD)
-=0.00011/29 (TOPMED)
HGVS:: NC_000006.12:g.26016892_26016895del, NC_000006.11:g.26017120_26017123del, NG_029342.1:g.886_889del

Select item 148581654511.

rs1485816545 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:26016577 (GRCh38)
6:26016805 (GRCh37)
Canonical SPDI:: NC_000006.12:26016576:G:A
Gene:: H1-1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000006.12:g.26016577G>A, NC_000006.11:g.26016805G>A, NG_029342.1:g.571G>A

Select item 148467621412.

rs1484676214 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:26017543 (GRCh38)
6:26017771 (GRCh37)
Canonical SPDI:: NC_000006.12:26017542:C:T
Gene:: H1-1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000006.12:g.26017543C>T, NC_000006.11:g.26017771C>T, NM_005325.4:c.190G>A, NM_005325.3:c.190G>A, NP_005316.1:p.Ala64Thr

Select item 148231764713.

rs1482317647 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:26017324 (GRCh38)
6:26017552 (GRCh37)
Canonical SPDI:: NC_000006.12:26017323:T:C
Gene:: H1-1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.26017324T>C, NC_000006.11:g.26017552T>C, NM_005325.4:c.409A>G, NM_005325.3:c.409A>G, NP_005316.1:p.Lys137Glu

Select item 148211537914.

rs1482115379 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 6:26017198 (GRCh38)
6:26017426 (GRCh37)
Canonical SPDI:: NC_000006.12:26017197:T:A,NC_000006.12:26017197:T:C
Gene:: H1-1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
C=0.000546/1 (Korea1K)
HGVS:: NC_000006.12:g.26017198T>A, NC_000006.12:g.26017198T>C, NC_000006.11:g.26017426T>A, NC_000006.11:g.26017426T>C, NM_005325.4:c.535A>T, NM_005325.4:c.535A>G, NM_005325.3:c.535A>T, NM_005325.3:c.535A>G, NP_005316.1:p.Lys179Ter, NP_005316.1:p.Lys179Glu

Select item 148153172415.

rs1481531724 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:26017159 (GRCh38)
6:26017387 (GRCh37)
Canonical SPDI:: NC_000006.12:26017158:G:A
Gene:: H1-1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.26017159G>A, NC_000006.11:g.26017387G>A, NM_005325.4:c.574C>T, NM_005325.3:c.574C>T, NP_005316.1:p.Pro192Ser

Select item 148145894416.

rs1481458944 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:26017528 (GRCh38)
6:26017756 (GRCh37)
Canonical SPDI:: NC_000006.12:26017527:G:A
Gene:: H1-1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.26017528G>A, NC_000006.11:g.26017756G>A, NM_005325.4:c.205C>T, NM_005325.3:c.205C>T

Select item 148078837017.

rs1480788370 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:26018569 (GRCh38)
6:26018797 (GRCh37)
Canonical SPDI:: NC_000006.12:26018568:A:G
Gene:: H1-1 (Varview), H3C1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.26018569A>G, NC_000006.11:g.26018797A>G

Select item 148074068718.

rs1480740687 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:26018752 (GRCh38)
6:26018980 (GRCh37)
Canonical SPDI:: NC_000006.12:26018751:C:T
Gene:: H1-1 (Varview), H3C1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.26018752C>T, NC_000006.11:g.26018980C>T

Select item 147989465319.

rs1479894653 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:26018933 (GRCh38)
6:26019161 (GRCh37)
Canonical SPDI:: NC_000006.12:26018932:G:C
Gene:: H1-1 (Varview), H3C1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000045/12 (TOPMED)
HGVS:: NC_000006.12:g.26018933G>C, NC_000006.11:g.26019161G>C

Select item 147951717420.

rs1479517174 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 6:26018331 (GRCh38)
6:26018559 (GRCh37)
Canonical SPDI:: NC_000006.12:26018330:C:G,NC_000006.12:26018330:C:T
Gene:: H1-1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.26018331C>G, NC_000006.12:g.26018331C>T, NC_000006.11:g.26018559C>G, NC_000006.11:g.26018559C>T

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