SNP Links for Gene (Select 8359) - SNP

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Select item 14913678511.

rs1491367851 [Homo sapiens]

Variant type:: DEL
Alleles:: GG>- [Show Flanks]
Chromosome:: 6:26021991 (GRCh38)
6:26022219 (GRCh37)
Canonical SPDI:: NC_000006.12:26021990:GG:
Gene:: H4C1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency
MAF:: -=0.000204/23 (ExAC)
HGVS:: NC_000006.12:g.26021991_26021992del, NC_000006.11:g.26022219_26022220del, NM_003538.4:c.*1_*2del, NM_003538.3:c.*1_*2del

Select item 14903149692.

rs1490314969 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 6:26019838 (GRCh38)
6:26020066 (GRCh37)
Canonical SPDI:: NC_000006.12:26019837:A:T
Gene:: H3C1 (Varview), H4C1 (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.26019838A>T, NC_000006.11:g.26020066A>T

Select item 14895553683.

rs1489555368 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:26020892 (GRCh38)
6:26021120 (GRCh37)
Canonical SPDI:: NC_000006.12:26020891:A:G
Gene:: H3C1 (Varview), H4C1 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.26020892A>G, NC_000006.11:g.26021120A>G, NM_003529.3:c.403A>G, NM_003529.2:c.403A>G, NP_003520.1:p.Arg135Gly

Select item 14894560704.

rs1489456070 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:26021754 (GRCh38)
6:26021982 (GRCh37)
Canonical SPDI:: NC_000006.12:26021753:A:G
Gene:: H4C1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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.26021754A>G, NC_000006.11:g.26021982A>G, NM_003538.4:c.76A>G, NM_003538.3:c.76A>G, NP_003529.1:p.Asn26Asp

Select item 14880973765.

rs1488097376 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:26021975 (GRCh38)
6:26022203 (GRCh37)
Canonical SPDI:: NC_000006.12:26021974:T:C
Gene:: H4C1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0.000334/3 (ALFA)
C=0.000013/3 (GnomAD_exomes)
HGVS:: NC_000006.12:g.26021975T>C, NC_000006.11:g.26022203T>C, NM_003538.4:c.297T>C, NM_003538.3:c.297T>C

Select item 14875002976.

rs1487500297 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:26022538 (GRCh38)
6:26022766 (GRCh37)
Canonical SPDI:: NC_000006.12:26022537:C:A
Gene:: H4C1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000029/4 (GnomAD)
A=0.000038/10 (TOPMED)
HGVS:: NC_000006.12:g.26022538C>A, NC_000006.11:g.26022766C>A

Select item 14863216877.

rs1486321687 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:26021476 (GRCh38)
6:26021704 (GRCh37)
Canonical SPDI:: NC_000006.12:26021475:T:C
Gene:: H4C1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: C=0.00014/4 (TOMMO)
T=0.5/1 (Siberian)
HGVS:: NC_000006.12:g.26021476T>C, NC_000006.11:g.26021704T>C

Select item 14852363418.

rs1485236341 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 6:26021268 (GRCh38)
6:26021496 (GRCh37)
Canonical SPDI:: NC_000006.12:26021267:G:A,NC_000006.12:26021267:G:C
Gene:: H3C1 (Varview), H4C1 (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=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.26021268G>A, NC_000006.12:g.26021268G>C, NC_000006.11:g.26021496G>A, NC_000006.11:g.26021496G>C

Select item 14851755889.

rs1485175588 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:26021887 (GRCh38)
6:26022115 (GRCh37)
Canonical SPDI:: NC_000006.12:26021886:C:T
Gene:: H4C1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.26021887C>T, NC_000006.11:g.26022115C>T, NM_003538.4:c.209C>T, NM_003538.3:c.209C>T, NP_003529.1:p.Ala70Val

Select item 148512290110.

rs1485122901 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:26019969 (GRCh38)
6:26020197 (GRCh37)
Canonical SPDI:: NC_000006.12:26019968:G:A
Gene:: H3C1 (Varview), H4C1 (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.26019969G>A, NC_000006.11:g.26020197G>A

Select item 148491288711.

rs1484912887 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 6:26021570 (GRCh38)
6:26021798 (GRCh37)
Canonical SPDI:: NC_000006.12:26021569:G:A,NC_000006.12:26021569:G:T
Gene:: H4C1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000006.12:g.26021570G>A, NC_000006.12:g.26021570G>T, NC_000006.11:g.26021798G>A, NC_000006.11:g.26021798G>T

Select item 148134618612.

rs1481346186 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:26021348 (GRCh38)
6:26021576 (GRCh37)
Canonical SPDI:: NC_000006.12:26021347:G:A
Gene:: H3C1 (Varview), H4C1 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00011/29 (TOPMED)
A=0.000128/18 (GnomAD)
HGVS:: NC_000006.12:g.26021348G>A, NC_000006.11:g.26021576G>A

Select item 148040562113.

rs1480405621 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:26019954 (GRCh38)
6:26020182 (GRCh37)
Canonical SPDI:: NC_000006.12:26019953:G:T
Gene:: H3C1 (Varview), H4C1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000006.12:g.26019954G>T, NC_000006.11:g.26020182G>T

Select item 147915592414.

rs1479155924 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTTT>- [Show Flanks]
Chromosome:: 6:26019978 (GRCh38)
6:26020206 (GRCh37)
Canonical SPDI:: NC_000006.12:26019976:TCTTT:T
Gene:: H3C1 (Varview), H4C1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000084/1 (ALFA)
-=0.000016/2 (GnomAD)
HGVS:: NC_000006.12:g.26019978_26019981del, NC_000006.11:g.26020206_26020209del

Select item 147828545815.

rs1478285458 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 6:26020324 (GRCh38)
6:26020552 (GRCh37)
Canonical SPDI:: NC_000006.12:26020323:G:A,NC_000006.12:26020323:G:T
Gene:: H3C1 (Varview), H4C1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000006.12:g.26020324G>A, NC_000006.12:g.26020324G>T, NC_000006.11:g.26020552G>A, NC_000006.11:g.26020552G>T

Select item 147828537116.

rs1478285371 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 6:26020864 (GRCh38)
6:26021092 (GRCh37)
Canonical SPDI:: NC_000006.12:26020863:CC:C
Gene:: H3C1 (Varview), H4C1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.26020865del, NC_000006.11:g.26021093del, NM_003529.3:c.376del, NM_003529.2:c.376del, NP_003520.1:p.Gln126fs

Select item 147805325917.

rs1478053259 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 6:26022220 (GRCh38)
6:26022448 (GRCh37)
Canonical SPDI:: NC_000006.12:26022217:AGAG:AG
Gene:: H4C1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAG=0./0 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000015/4 (TOPMED)
-=0.001092/2 (Korea1K)
HGVS:: NC_000006.12:g.26022218AG[1], NC_000006.11:g.26022446AG[1]

Select item 147480190518.

rs1474801905 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:26021332 (GRCh38)
6:26021560 (GRCh37)
Canonical SPDI:: NC_000006.12:26021331:T:C
Gene:: H3C1 (Varview), H4C1 (Varview)
Functional Consequence:: 500B_downstream_variant,upstream_transcript_variant,2KB_upstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000006.12:g.26021332T>C, NC_000006.11:g.26021560T>C

Select item 147479247819.

rs1474792478 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 6:26021564 (GRCh38)
6:26021792 (GRCh37)
Canonical SPDI:: NC_000006.12:26021563:G:
Gene:: H4C1 (Varview)
Functional Consequence:: 2KB_upstream_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_000006.12:g.26021564del, NC_000006.11:g.26021792del

Select item 147378974320.

rs1473789743 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:26021599 (GRCh38)
6:26021827 (GRCh37)
Canonical SPDI:: NC_000006.12:26021598:G:T
Gene:: H4C1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.26021599G>T, NC_000006.11:g.26021827G>T

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