SNP Links for Gene (Select 29108) - SNP

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Select item 14908782811.

rs1490878281 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 16:31202819 (GRCh38)
16:31214140 (GRCh37)
Canonical SPDI:: NC_000016.10:31202818:GG:G
Gene:: PYCARD (Varview), PYCARD-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
HGVS:: NC_000016.10:g.31202820del, NC_000016.9:g.31214141del, NG_029446.1:g.4958del, NR_102400.1:n.463del, NM_145183.1:c.-129del

Select item 14905163172.

rs1490516317 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:31201904 (GRCh38)
16:31213225 (GRCh37)
Canonical SPDI:: NC_000016.10:31201903:G:C
Gene:: PYCARD (Varview), PYCARD-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000142/2 (ALFA)
C=0.000015/4 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000016.10:g.31201904G>C, NC_000016.9:g.31213225G>C, NG_029446.1:g.5873C>G, NR_102400.1:n.20G>C

Select item 14904914833.

rs1490491483 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 16:31201883 (GRCh38)
16:31213204 (GRCh37)
Canonical SPDI:: NC_000016.10:31201882:G:A,NC_000016.10:31201882:G:C
Gene:: PYCARD (Varview), PYCARD-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: C=0.00004/1 (TOMMO)
HGVS:: NC_000016.10:g.31201883G>A, NC_000016.10:g.31201883G>C, NC_000016.9:g.31213204G>A, NC_000016.9:g.31213204G>C, NG_029446.1:g.5894C>T, NG_029446.1:g.5894C>G

Select item 14902295094.

rs1490229509 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:31201375 (GRCh38)
16:31212696 (GRCh37)
Canonical SPDI:: NC_000016.10:31201374:G:C
Gene:: PYCARD (Varview), PYCARD-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000023/6 (TOPMED)
HGVS:: NC_000016.10:g.31201375G>C, NC_000016.9:g.31212696G>C, NG_029446.1:g.6402C>G

Select item 14900020915.

rs1490002091 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:31201609 (GRCh38)
16:31212930 (GRCh37)
Canonical SPDI:: NC_000016.10:31201608:C:G
Gene:: PYCARD (Varview), PYCARD-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,synonymous_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_000016.10:g.31201609C>G, NC_000016.9:g.31212930C>G, NG_029446.1:g.6168G>C, NM_013258.5:c.564G>C, NM_013258.4:c.564G>C, NM_145182.3:c.507G>C, NM_145182.2:c.507G>C, NM_145183.1:c.384G>C

Select item 14898842196.

rs1489884219 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 16:31202293 (GRCh38)
16:31213614 (GRCh37)
Canonical SPDI:: NC_000016.10:31202292:C:G,NC_000016.10:31202292:C:T
Gene:: PYCARD (Varview), PYCARD-AS1 (Varview)
Functional Consequence:: intron_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_000016.10:g.31202293C>G, NC_000016.10:g.31202293C>T, NC_000016.9:g.31213614C>G, NC_000016.9:g.31213614C>T, NG_029446.1:g.5484G>C, NG_029446.1:g.5484G>A

Select item 14896801157.

rs1489680115 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:31201038 (GRCh38)
16:31212359 (GRCh37)
Canonical SPDI:: NC_000016.10:31201037:G:A
Gene:: PYCARD (Varview), PYCARD-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000016.10:g.31201038G>A, NC_000016.9:g.31212359G>A, NG_029446.1:g.6739C>T

Select item 14889854198.

rs1488985419 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:31201971 (GRCh38)
16:31213292 (GRCh37)
Canonical SPDI:: NC_000016.10:31201970:A:G
Gene:: PYCARD (Varview), PYCARD-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.31201971A>G, NC_000016.9:g.31213292A>G, NG_029446.1:g.5806T>C, NR_102400.1:n.87A>G

Select item 14876155979.

rs1487615597 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:31202826 (GRCh38)
16:31214147 (GRCh37)
Canonical SPDI:: NC_000016.10:31202825:T:C
Gene:: PYCARD (Varview), PYCARD-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
HGVS:: NC_000016.10:g.31202826T>C, NC_000016.9:g.31214147T>C, NG_029446.1:g.4951A>G, NR_102400.1:n.469T>C, NM_145183.1:c.-136A>G

Select item 148754886110.

rs1487548861 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:31202861 (GRCh38)
16:31214182 (GRCh37)
Canonical SPDI:: NC_000016.10:31202860:T:C
Gene:: PYCARD (Varview), PYCARD-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.31202861T>C, NC_000016.9:g.31214182T>C, NG_029446.1:g.4916A>G, NR_102400.1:n.504T>C, NM_145183.1:c.-171A>G

Select item 148653222011.

rs1486532220 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:31202652 (GRCh38)
16:31213973 (GRCh37)
Canonical SPDI:: NC_000016.10:31202651:C:T
Gene:: PYCARD (Varview), PYCARD-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.31202652C>T, NC_000016.9:g.31213973C>T, NG_029446.1:g.5125G>A, NM_013258.5:c.39G>A, NM_013258.4:c.39G>A, NM_145182.3:c.39G>A, NM_145182.2:c.39G>A, NR_102400.1:n.295C>T, NM_145183.1:c.39G>A

Select item 148591568412.

rs1485915684 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:31203234 (GRCh38)
16:31214555 (GRCh37)
Canonical SPDI:: NC_000016.10:31203233:G:A
Gene:: PYCARD (Varview), PYCARD-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.31203234G>A, NC_000016.9:g.31214555G>A, NG_029446.1:g.4543C>T, NR_102400.1:n.877G>A

Select item 148525463413.

rs1485254634 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 16:31204052 (GRCh38)
16:31215373 (GRCh37)
Canonical SPDI:: NC_000016.10:31204050:TAT:T
Gene:: PYCARD (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.31204052_31204053del, NC_000016.9:g.31215373_31215374del, NG_029446.1:g.3725_3726del

Select item 148516455214.

rs1485164552 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:31203711 (GRCh38)
16:31215032 (GRCh37)
Canonical SPDI:: NC_000016.10:31203710:G:A
Gene:: PYCARD (Varview), PYCARD-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,500B_downstream_variant,downstream_transcript_variant,2KB_upstream_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_000016.10:g.31203711G>A, NC_000016.9:g.31215032G>A, NG_029446.1:g.4066C>T

Select item 148496079615.

rs1484960796 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:31201293 (GRCh38)
16:31212614 (GRCh37)
Canonical SPDI:: NC_000016.10:31201292:G:C
Gene:: PYCARD (Varview), PYCARD-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,downstream_transcript_variant,500B_downstream_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_000016.10:g.31201293G>C, NC_000016.9:g.31212614G>C, NG_029446.1:g.6484C>G

Select item 148458022716.

rs1484580227 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:31202098 (GRCh38)
16:31213419 (GRCh37)
Canonical SPDI:: NC_000016.10:31202097:C:T
Gene:: PYCARD (Varview), PYCARD-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000005/1 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
T=0.000042/11 (TOPMED)
HGVS:: NC_000016.10:g.31202098C>T, NC_000016.9:g.31213419C>T, NG_029446.1:g.5679G>A

Select item 148450550917.

rs1484505509 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 16:31204656 (GRCh38)
16:31215977 (GRCh37)
Canonical SPDI:: NC_000016.10:31204655:TTTTT:TTTT
Gene:: PYCARD (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.31204660del, NC_000016.9:g.31215981del, NG_029446.1:g.3121del

Select item 148435757818.

rs1484357578 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 16:31202637 (GRCh38)
16:31213958 (GRCh37)
Canonical SPDI:: NC_000016.10:31202636:C:A,NC_000016.10:31202636:C:G
Gene:: PYCARD (Varview), PYCARD-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00007/1 (ALFA)
HGVS:: NC_000016.10:g.31202637C>A, NC_000016.10:g.31202637C>G, NC_000016.9:g.31213958C>A, NC_000016.9:g.31213958C>G, NG_029446.1:g.5140G>T, NG_029446.1:g.5140G>C, NM_013258.5:c.54G>T, NM_013258.5:c.54G>C, NM_013258.4:c.54G>T, NM_013258.4:c.54G>C, NM_145182.3:c.54G>T, NM_145182.3:c.54G>C, NM_145182.2:c.54G>T, NM_145182.2:c.54G>C, NR_102400.1:n.280C>A, NR_102400.1:n.280C>G, NM_145183.1:c.54G>T, NM_145183.1:c.54G>C, NP_037390.2:p.Glu18Asp, NP_037390.2:p.Glu18Asp, NP_660183.1:p.Glu18Asp, NP_660183.1:p.Glu18Asp

Select item 148426918419.

rs1484269184 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:31201214 (GRCh38)
16:31212535 (GRCh37)
Canonical SPDI:: NC_000016.10:31201213:C:G
Gene:: PYCARD (Varview), PYCARD-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,downstream_transcript_variant,500B_downstream_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_000016.10:g.31201214C>G, NC_000016.9:g.31212535C>G, NG_029446.1:g.6563G>C

Select item 148258893120.

rs1482588931 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:31201837 (GRCh38)
16:31213158 (GRCh37)
Canonical SPDI:: NC_000016.10:31201836:C:T
Gene:: PYCARD (Varview), PYCARD-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,synonymous_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.31201837C>T, NC_000016.9:g.31213158C>T, NG_029446.1:g.5940G>A, NM_013258.5:c.336G>A, NM_013258.4:c.336G>A, NM_145182.3:c.279G>A, NM_145182.2:c.279G>A, NM_145183.1:c.156G>A

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