SNP Links for Gene (Select 23632) - SNP

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:150257116 (GRCh38)
1:150229511 (GRCh37)
Canonical SPDI:: NC_000001.11:150257115:T:A
Gene:: CA14 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.150257116T>A, NW_003871055.3:g.7072529T>A, NC_000001.10:g.150229511T>A

Select item 14898796126.

rs1489879612 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:150257633 (GRCh38)
1:150230028 (GRCh37)
Canonical SPDI:: NC_000001.11:150257632:A:C
Gene:: CA14 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_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_000001.11:g.150257633A>C, NW_003871055.3:g.7073046A>C, NC_000001.10:g.150230028A>C

Select item 14898428597.

rs1489842859 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:150259741 (GRCh38)
1:150232136 (GRCh37)
Canonical SPDI:: NC_000001.11:150259740:C:A,NC_000001.11:150259740:C:T
Gene:: CA14 (Varview), SNORD13C (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.150259741C>A, NC_000001.11:g.150259741C>T, NW_003871055.3:g.7075154C>A, NW_003871055.3:g.7075154C>T, NC_000001.10:g.150232136C>A, NC_000001.10:g.150232136C>T

Select item 14898274298.

rs1489827429 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:150258419 (GRCh38)
1:150230814 (GRCh37)
Canonical SPDI:: NC_000001.11:150258418:G:A
Gene:: CA14 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.150258419G>A, NW_003871055.3:g.7073832G>A, NC_000001.10:g.150230814G>A

Select item 14893680449.

rs1489368044 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 1:150264194 (GRCh38)
1:150236594 (GRCh37)
Canonical SPDI:: NC_000001.11:150264193:GGG:GG
Gene:: CA14 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0.000142/2 (ALFA)
-=0.000159/42 (TOPMED)
-=0.000193/27 (GnomAD)
HGVS:: NC_000001.11:g.150264196del, NW_003871055.3:g.7079609del, NG_029952.2:g.9822del, NG_029952.1:g.10016del, NC_000001.10:g.150236596del

Select item 148923983510.

rs1489239835 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:150260686 (GRCh38)
1:150233081 (GRCh37)
Canonical SPDI:: NC_000001.11:150260685:G:T
Gene:: CA14 (Varview), SNORD13C (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000022/3 (GnomAD)
HGVS:: NC_000001.11:g.150260686G>T, NW_003871055.3:g.7076099G>T, NC_000001.10:g.150233081G>T

Select item 148910136111.

rs1489101361 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:150263056 (GRCh38)
1:150235455 (GRCh37)
Canonical SPDI:: NC_000001.11:150263055:G:C
Gene:: CA14 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.150263056G>C, NW_003871055.3:g.7078469G>C, NC_000001.10:g.150235455G>C, XM_005245059.4:c.577G>C, XM_005245059.3:c.577G>C, XM_005245059.2:c.577G>C, XM_005245059.1:c.577G>C, XM_011509379.4:c.535G>C, XM_011509379.3:c.535G>C, XM_011509379.2:c.535G>C, XM_011509379.1:c.535G>C, XM_005245060.4:c.577G>C, XM_005245060.3:c.577G>C, XM_005245060.2:c.577G>C, XM_005245060.1:c.577G>C, XM_006711259.4:c.577G>C, XM_006711259.3:c.577G>C, XM_006711259.2:c.577G>C, XM_006711259.1:c.577G>C, XM_006711261.4:c.409G>C, XM_006711261.3:c.409G>C, XM_006711261.2:c.409G>C, XM_006711261.1:c.409G>C, NM_012113.3:c.577G>C, NM_012113.2:c.577G>C, NM_012113.1:c.577G>C, XP_005245116.1:p.Val193Leu, XP_011507681.1:p.Val179Leu, XP_005245117.1:p.Val193Leu, XP_006711322.1:p.Val193Leu, XP_006711324.1:p.Val137Leu, NP_036245.1:p.Val193Leu

Select item 148891334112.

rs1488913341 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:150260178 (GRCh38)
1:150232573 (GRCh37)
Canonical SPDI:: NC_000001.11:150260177:A:C
Gene:: CA14 (Varview), SNORD13C (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant,missense_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_000001.11:g.150260178A>C, NW_003871055.3:g.7075591A>C, NC_000001.10:g.150232573A>C, XM_011509379.4:c.83A>C, XM_011509379.3:c.83A>C, XM_011509379.2:c.83A>C, XM_011509379.1:c.83A>C, XP_011507681.1:p.Gln28Pro

Select item 148888325313.

rs1488883253 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:150259053 (GRCh38)
1:150231448 (GRCh37)
Canonical SPDI:: NC_000001.11:150259052:G:A
Gene:: CA14 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.150259053G>A, NW_003871055.3:g.7074466G>A, NC_000001.10:g.150231448G>A

Select item 148826261914.

rs1488262619 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:150260910 (GRCh38)
1:150233309 (GRCh37)
Canonical SPDI:: NC_000001.11:150260909:C:G,NC_000001.11:150260909:C:T
Gene:: CA14 (Varview), SNORD13C (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
T=0.000106/2 (TOMMO)
HGVS:: NC_000001.11:g.150260910C>G, NC_000001.11:g.150260910C>T, NW_003871055.3:g.7076323C>G, NW_003871055.3:g.7076323C>T, NC_000001.10:g.150233309C>G, NC_000001.10:g.150233309C>T

Select item 148822992415.

rs1488229924 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:150260082 (GRCh38)
1:150232477 (GRCh37)
Canonical SPDI:: NC_000001.11:150260081:G:A
Gene:: CA14 (Varview), SNORD13C (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_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_000001.11:g.150260082G>A, NW_003871055.3:g.7075495G>A, NC_000001.10:g.150232477G>A

Select item 148759693916.

rs1487596939 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:150256335 (GRCh38)
1:150228730 (GRCh37)
Canonical SPDI:: NC_000001.11:150256334:C:T
Gene:: CA14 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_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_000001.11:g.150256335C>T, NW_003871055.3:g.7071748C>T, NC_000001.10:g.150228730C>T

Select item 148697447017.

rs1486974470 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:150258411 (GRCh38)
1:150230806 (GRCh37)
Canonical SPDI:: NC_000001.11:150258410:C:T
Gene:: CA14 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000036/5 (GnomAD)
HGVS:: NC_000001.11:g.150258411C>T, NW_003871055.3:g.7073824C>T, NC_000001.10:g.150230806C>T

Select item 148694425418.

rs1486944254 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:150257495 (GRCh38)
1:150229890 (GRCh37)
Canonical SPDI:: NC_000001.11:150257494:T:C
Gene:: CA14 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.150257495T>C, NW_003871055.3:g.7072908T>C, NC_000001.10:g.150229890T>C

Select item 148609761419.

rs1486097614 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:150265116 (GRCh38)
1:150237516 (GRCh37)
Canonical SPDI:: NC_000001.11:150265115:G:C
Gene:: CA14 (Varview), APH1A (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_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_000001.11:g.150265116G>C, NW_003871055.3:g.7080529G>C, NG_029952.2:g.8900C>G, NG_029952.1:g.9094C>G, NC_000001.10:g.150237516G>C

Select item 148565654220.

rs1485656542 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:150262079 (GRCh38)
1:150234478 (GRCh37)
Canonical SPDI:: NC_000001.11:150262078:C:G,NC_000001.11:150262078:C:T
Gene:: CA14 (Varview), SNORD13C (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.150262079C>G, NC_000001.11:g.150262079C>T, NW_003871055.3:g.7077492C>G, NW_003871055.3:g.7077492C>T, NC_000001.10:g.150234478C>G, NC_000001.10:g.150234478C>T

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