SNP Links for Gene (Select 285148) - SNP

Variant type:: DELINS
Alleles:: A>-,AA [Show Flanks]
Chromosome:: 2:9512259 (GRCh38)
2:9652388 (GRCh37)
Canonical SPDI:: NC_000002.12:9512258:AAAAAAAAA:AAAAAAAA,NC_000002.12:9512258:AAAAAAAAA:AAAAAAAAAA
Gene:: ADAM17 (Varview), IAH1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0.457146/3915 (ALFA)
-=0.035813/600 (TOMMO)
-=0.048581/89 (Korea1K)
-=0.122642/26 (Vietnamese)
A=0.417061/110392 (TOPMED)
A=0.435/261 (NorthernSweden)
-=0.461262/2310 (1000Genomes)
A=0.5/20 (GENOME_DK)
HGVS:: NC_000002.12:g.9512267del, NC_000002.12:g.9512267dup, NC_000002.11:g.9652396del, NC_000002.11:g.9652396dup, NG_029873.1:g.48530del, NG_029873.1:g.48530dup

Select item 14909798649.

rs1490979864 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:9494085 (GRCh38)
2:9634214 (GRCh37)
Canonical SPDI:: NC_000002.12:9494084:A:T
Gene:: ADAM17 (Varview), IAH1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_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_000002.12:g.9494085A>T, NC_000002.11:g.9634214A>T, NG_029873.1:g.66704T>A

Select item 149095140510.

rs1490951405 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:9480147 (GRCh38)
2:9620276 (GRCh37)
Canonical SPDI:: NC_000002.12:9480146:G:A
Gene:: IAH1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.9480147G>A, NC_000002.11:g.9620276G>A

Select item 149092270511.

rs1490922705 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:9492712 (GRCh38)
2:9632841 (GRCh37)
Canonical SPDI:: NC_000002.12:9492711:T:C
Gene:: ADAM17 (Varview), IAH1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000002.12:g.9492712T>C, NC_000002.11:g.9632841T>C, NG_029873.1:g.68077A>G

Select item 149089086612.

rs1490890866 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:9512385 (GRCh38)
2:9652514 (GRCh37)
Canonical SPDI:: NC_000002.12:9512384:A:G
Gene:: ADAM17 (Varview), IAH1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0./0 (GnomAD)
G=0.000019/5 (TOPMED)
G=0.000312/2 (1000Genomes)
HGVS:: NC_000002.12:g.9512385A>G, NC_000002.11:g.9652514A>G, NG_029873.1:g.48404T>C, XR_001738723.2:n.1396A>G, XR_001738723.1:n.1383A>G, XR_007073106.1:n.1220A>G, XR_007073105.1:n.1061A>G

Select item 149087605813.

rs1490876058 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:9509750 (GRCh38)
2:9649879 (GRCh37)
Canonical SPDI:: NC_000002.12:9509749:A:G
Gene:: ADAM17 (Varview), IAH1 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.9509750A>G, NC_000002.11:g.9649879A>G, NG_029873.1:g.51039T>C

Select item 149082216714.

rs1490822167 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:9501873 (GRCh38)
2:9642002 (GRCh37)
Canonical SPDI:: NC_000002.12:9501872:A:G
Gene:: ADAM17 (Varview), IAH1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.9501873A>G, NC_000002.11:g.9642002A>G, NG_029873.1:g.58916T>C

Select item 149060184115.

rs1490601841 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:9472514 (GRCh38)
2:9612643 (GRCh37)
Canonical SPDI:: NC_000002.12:9472513:A:G
Gene:: CPSF3 (Varview), IAH1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.9472514A>G, NC_000002.11:g.9612643A>G

Select item 149058188216.

rs1490581882 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:9491384 (GRCh38)
2:9631513 (GRCh37)
Canonical SPDI:: NC_000002.12:9491383:A:C
Gene:: ADAM17 (Varview), IAH1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.9491384A>C, NC_000002.11:g.9631513A>C, NG_029873.1:g.69405T>G

Select item 149052787317.

rs1490527873 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:9487459 (GRCh38)
2:9627588 (GRCh37)
Canonical SPDI:: NC_000002.12:9487458:A:G
Gene:: IAH1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
G=0.000468/3 (1000Genomes)
HGVS:: NC_000002.12:g.9487459A>G, NC_000002.11:g.9627588A>G, NG_029873.1:g.73330T>C

Select item 149052662518.

rs1490526625 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:9500942 (GRCh38)
2:9641071 (GRCh37)
Canonical SPDI:: NC_000002.12:9500941:C:G
Gene:: ADAM17 (Varview), IAH1 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.9500942C>G, NC_000002.11:g.9641071C>G, NG_029873.1:g.59847G>C

Select item 149039877519.

rs1490398775 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:9511309 (GRCh38)
2:9651438 (GRCh37)
Canonical SPDI:: NC_000002.12:9511308:G:A
Gene:: ADAM17 (Varview), IAH1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000002.12:g.9511309G>A, NC_000002.11:g.9651438G>A, NG_029873.1:g.49480C>T

Select item 149039762420.

rs1490397624 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:9508013 (GRCh38)
2:9648142 (GRCh37)
Canonical SPDI:: NC_000002.12:9508012:G:A
Gene:: ADAM17 (Varview), IAH1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.9508013G>A, NC_000002.11:g.9648142G>A, NG_029873.1:g.52776C>T, XR_001738721.2:n.2499G>A, XR_001738721.1:n.2518G>A, XR_001738724.2:n.2446G>A, XR_001738724.1:n.2433G>A, XR_007073107.1:n.2285G>A

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