SNP Links for Gene (Select 154467) - SNP

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Links from Gene

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Select item 14915843081.

rs1491584308 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 6:37495551 (GRCh38)
6:37463328 (GRCh37)
Canonical SPDI:: NC_000006.12:37495551:A:AA
Gene:: CCDC167 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.37495552dup, NC_000006.11:g.37463328dup

Select item 14915158612.

rs1491515861 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTGGG [Show Flanks]
Chromosome:: 6:37484482 (GRCh38)
6:37452259 (GRCh37)
Canonical SPDI:: NC_000006.12:37484482:TGGGGTGGGGTGGG:TGGGGTGGGGTGGGGTGGG
Gene:: CCDC167 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TGGGGTGGGGTGGGGTGGG=0./0 (ALFA)
HGVS:: NC_000006.12:g.37484487GTGGG[3], NC_000006.11:g.37452263GTGGG[3]

Select item 14913833753.

rs1491383375 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 6:37484482 (GRCh38)
6:37452258 (GRCh37)
Canonical SPDI:: NC_000006.12:37484481:TT:
Gene:: CCDC167 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: -=0.00011/3 (TOMMO)
HGVS:: NC_000006.12:g.37484482_37484483del, NC_000006.11:g.37452258_37452259del

Select item 14909001924.

rs1490900192 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:37491863 (GRCh38)
6:37459639 (GRCh37)
Canonical SPDI:: NC_000006.12:37491862:G:A
Gene:: CCDC167 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
HGVS:: NC_000006.12:g.37491863G>A, NC_000006.11:g.37459639G>A

Select item 14907384855.

rs1490738485 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:37500306 (GRCh38)
6:37468082 (GRCh37)
Canonical SPDI:: NC_000006.12:37500305:G:C
Gene:: CCDC167 (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.37500306G>C, NC_000006.11:g.37468082G>C

Select item 14907336326.

rs1490733632 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 6:37497821 (GRCh38)
6:37465597 (GRCh37)
Canonical SPDI:: NC_000006.12:37497820:C:A,NC_000006.12:37497820:C:T
Gene:: CCDC167 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0./0 (GnomAD)
HGVS:: NC_000006.12:g.37497821C>A, NC_000006.12:g.37497821C>T, NC_000006.11:g.37465597C>A, NC_000006.11:g.37465597C>T

Select item 14904106187.

rs1490410618 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:37491369 (GRCh38)
6:37459145 (GRCh37)
Canonical SPDI:: NC_000006.12:37491368:C:A
Gene:: CCDC167 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (GnomAD)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.37491369C>A, NC_000006.11:g.37459145C>A

Select item 14900225358.

rs1490022535 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:37484809 (GRCh38)
6:37452585 (GRCh37)
Canonical SPDI:: NC_000006.12:37484808:C:G
Gene:: CCDC167 (Varview)
Functional Consequence:: splice_donor_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.37484809C>G, NC_000006.11:g.37452585C>G

Select item 14898533389.

rs1489853338 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:37484278 (GRCh38)
6:37452054 (GRCh37)
Canonical SPDI:: NC_000006.12:37484277:C:T
Gene:: CCDC167 (Varview)
Functional Consequence:: intron_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.37484278C>T, NC_000006.11:g.37452054C>T

Select item 148980876410.

rs1489808764 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:37485084 (GRCh38)
6:37452860 (GRCh37)
Canonical SPDI:: NC_000006.12:37485083:T:G
Gene:: CCDC167 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.37485084T>G, NC_000006.11:g.37452860T>G

Select item 148966983511.

rs1489669835 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:37484493 (GRCh38)
6:37452269 (GRCh37)
Canonical SPDI:: NC_000006.12:37484492:T:G
Gene:: CCDC167 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00853/139 (ALFA)
G=0.00112/5 (Estonian)
G=0.00132/21 (TOMMO)
G=0.07577/217 (KOREAN)
HGVS:: NC_000006.12:g.37484493T>G, NC_000006.11:g.37452269T>G

Select item 148943273812.

rs1489432738 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:37487134 (GRCh38)
6:37454910 (GRCh37)
Canonical SPDI:: NC_000006.12:37487133:T:C
Gene:: CCDC167 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000021/3 (GnomAD)
C=0.000023/6 (TOPMED)
HGVS:: NC_000006.12:g.37487134T>C, NC_000006.11:g.37454910T>C

Select item 148936436013.

rs1489364360 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 6:37501185 (GRCh38)
6:37468961 (GRCh37)
Canonical SPDI:: NC_000006.12:37501184:T:A,NC_000006.12:37501184:T:G
Gene:: CCDC167 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.00034/1 (KOREAN)
HGVS:: NC_000006.12:g.37501185T>A, NC_000006.12:g.37501185T>G, NC_000006.11:g.37468961T>A, NC_000006.11:g.37468961T>G

Select item 148931232814.

rs1489312328 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 6:37489833 (GRCh38)
6:37457609 (GRCh37)
Canonical SPDI:: NC_000006.12:37489832:G:A,NC_000006.12:37489832:G:C
Gene:: CCDC167 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000006.12:g.37489833G>A, NC_000006.12:g.37489833G>C, NC_000006.11:g.37457609G>A, NC_000006.11:g.37457609G>C

Select item 148916246215.

rs1489162462 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:37500915 (GRCh38)
6:37468691 (GRCh37)
Canonical SPDI:: NC_000006.12:37500914:C:T
Gene:: CCDC167 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.37500915C>T, NC_000006.11:g.37468691C>T

Select item 148916196316.

rs1489161963 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:37486099 (GRCh38)
6:37453875 (GRCh37)
Canonical SPDI:: NC_000006.12:37486098:G:A
Gene:: CCDC167 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.37486099G>A, NC_000006.11:g.37453875G>A

Select item 148913753617.

rs1489137536 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:37500428 (GRCh38)
6:37468204 (GRCh37)
Canonical SPDI:: NC_000006.12:37500427:A:G
Gene:: CCDC167 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000006.12:g.37500428A>G, NC_000006.11:g.37468204A>G

Select item 148870253518.

rs1488702535 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:37492693 (GRCh38)
6:37460469 (GRCh37)
Canonical SPDI:: NC_000006.12:37492692:C:T
Gene:: CCDC167 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.37492693C>T, NC_000006.11:g.37460469C>T

Select item 148861726019.

rs1488617260 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:37485240 (GRCh38)
6:37453016 (GRCh37)
Canonical SPDI:: NC_000006.12:37485239:C:G
Gene:: CCDC167 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.37485240C>G, NC_000006.11:g.37453016C>G

Select item 148850272320.

rs1488502723 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 6:37489869 (GRCh38)
6:37457646 (GRCh37)
Canonical SPDI:: NC_000006.12:37489869:A:AA
Gene:: CCDC167 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000026/7 (TOPMED)
A=0.000043/6 (GnomAD)
HGVS:: NC_000006.12:g.37489870dup, NC_000006.11:g.37457646dup

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