SNP Links for Gene (Select 1215) - SNP

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Select item 14914414761.

rs1491441476 [Homo sapiens]

Variant type:: INS
Alleles:: ->C,CAC,CACAC,CACACAC,CACACACAC [Show Flanks]
Chromosome:: 14:24505252 (GRCh38)
14:24974459 (GRCh37)
Canonical SPDI:: NC_000014.9:24505252::C,NC_000014.9:24505252::CAC,NC_000014.9:24505252::CACAC,NC_000014.9:24505252::CACACAC,NC_000014.9:24505252::CACACACAC
Gene:: CMA1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: C=0.00055/9 (TOMMO)
HGVS:: NC_000014.9:g.24505252_24505253insC, NC_000014.9:g.24505252_24505253insCAC, NC_000014.9:g.24505252_24505253insCACAC, NC_000014.9:g.24505252_24505253insCACACAC, NC_000014.9:g.24505252_24505253insCACACACAC, NC_000014.8:g.24974458_24974459insC, NC_000014.8:g.24974458_24974459insCAC, NC_000014.8:g.24974458_24974459insCACAC, NC_000014.8:g.24974458_24974459insCACACAC, NC_000014.8:g.24974458_24974459insCACACACAC

Select item 14904673892.

rs1490467389 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:24505157 (GRCh38)
14:24974363 (GRCh37)
Canonical SPDI:: NC_000014.9:24505156:C:T
Gene:: CMA1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.004/18 (ALFA)
HGVS:: NC_000014.9:g.24505157C>T, NC_000014.8:g.24974363C>T

Select item 14899384803.

rs1489938480 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 14:24505458 (GRCh38)
14:24974664 (GRCh37)
Canonical SPDI:: NC_000014.9:24505457:C:G
Gene:: CMA1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000014.9:g.24505458C>G, NC_000014.8:g.24974664C>G, NM_001836.5:c.*58G>C, NM_001836.4:c.*58G>C, NM_001308083.2:c.*58G>C, NM_001308083.1:c.*58G>C

Select item 14897835524.

rs1489783552 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:24506719 (GRCh38)
14:24975925 (GRCh37)
Canonical SPDI:: NC_000014.9:24506718:T:C
Gene:: CMA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
HGVS:: NC_000014.9:g.24506719T>C, NC_000014.8:g.24975925T>C

Select item 14894832375.

rs1489483237 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 14:24508632 (GRCh38)
14:24977838 (GRCh37)
Canonical SPDI:: NC_000014.9:24508631:G:C,NC_000014.9:24508631:G:T
Gene:: CMA1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000021/3 (GnomAD)
HGVS:: NC_000014.9:g.24508632G>C, NC_000014.9:g.24508632G>T, NC_000014.8:g.24977838G>C, NC_000014.8:g.24977838G>T

Select item 14885545576.

rs1488554557 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:24509495 (GRCh38)
14:24978701 (GRCh37)
Canonical SPDI:: NC_000014.9:24509494:G:A
Gene:: CMA1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.24509495G>A, NC_000014.8:g.24978701G>A

Select item 14881331137.

rs1488133113 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 14:24504936 (GRCh38)
14:24974142 (GRCh37)
Canonical SPDI:: NC_000014.9:24504935:C:
Gene:: CMA1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000014.9:g.24504936del, NC_000014.8:g.24974142del

Select item 14862070388.

rs1486207038 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:24505111 (GRCh38)
14:24974317 (GRCh37)
Canonical SPDI:: NC_000014.9:24505110:T:C
Gene:: CMA1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000014.9:g.24505111T>C, NC_000014.8:g.24974317T>C

Select item 14853877979.

rs1485387797 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 14:24508556 (GRCh38)
14:24977762 (GRCh37)
Canonical SPDI:: NC_000014.9:24508555:G:C
Gene:: CMA1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.00003/8 (TOPMED)
HGVS:: NC_000014.9:g.24508556G>C, NC_000014.8:g.24977762G>C

Select item 148516306210.

rs1485163062 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 14:24508772 (GRCh38)
14:24977978 (GRCh37)
Canonical SPDI:: NC_000014.9:24508771:A:C
Gene:: CMA1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000026/7 (TOPMED)
C=0.000064/9 (GnomAD)
HGVS:: NC_000014.9:g.24508772A>C, NC_000014.8:g.24977978A>C

Select item 148495638011.

rs1484956380 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 14:24509045 (GRCh38)
14:24978251 (GRCh37)
Canonical SPDI:: NC_000014.9:24509044:T:A
Gene:: CMA1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000014.9:g.24509045T>A, NC_000014.8:g.24978251T>A

Select item 148493968512.

rs1484939685 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 14:24509409 (GRCh38)
14:24978615 (GRCh37)
Canonical SPDI:: NC_000014.9:24509408:C:A,NC_000014.9:24509408:C:G
Gene:: CMA1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000021/3 (GnomAD)
G=0.000042/11 (TOPMED)
HGVS:: NC_000014.9:g.24509409C>A, NC_000014.9:g.24509409C>G, NC_000014.8:g.24978615C>A, NC_000014.8:g.24978615C>G

Select item 148490763513.

rs1484907635 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 14:24506877 (GRCh38)
14:24976083 (GRCh37)
Canonical SPDI:: NC_000014.9:24506876:C:A
Gene:: CMA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000021/3 (GnomAD)
HGVS:: NC_000014.9:g.24506877C>A, NC_000014.8:g.24976083C>A

Select item 148386482214.

rs1483864822 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->GTGCTCGCTTCGGCAGCACATATACTAAAATTGTAGAATTGA
Chromosome:: no mapping
Canonical SPDI:

Select item 148335580115.

rs1483355801 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:24509088 (GRCh38)
14:24978294 (GRCh37)
Canonical SPDI:: NC_000014.9:24509087:T:C
Gene:: CMA1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000142/2 (ALFA)
C=0.000034/9 (TOPMED)
C=0.000036/5 (GnomAD)
HGVS:: NC_000014.9:g.24509088T>C, NC_000014.8:g.24978294T>C

Select item 148321005116.

rs1483210051 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:24505818 (GRCh38)
14:24975024 (GRCh37)
Canonical SPDI:: NC_000014.9:24505817:A:G
Gene:: CMA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.24505818A>G, NC_000014.8:g.24975024A>G

Select item 148299282817.

rs1482992828 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 14:24505242 (GRCh38)
14:24974448 (GRCh37)
Canonical SPDI:: NC_000014.9:24505241:A:C,NC_000014.9:24505241:A:T
Gene:: CMA1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
C=0.00001/1 (GnomAD)
HGVS:: NC_000014.9:g.24505242A>C, NC_000014.9:g.24505242A>T, NC_000014.8:g.24974448A>C, NC_000014.8:g.24974448A>T

Select item 148246131518.

rs1482461315 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 14:24509985 (GRCh38)
14:24979191 (GRCh37)
Canonical SPDI:: NC_000014.9:24509984:C:A,NC_000014.9:24509984:C:T
Gene:: CMA1 (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_000014.9:g.24509985C>A, NC_000014.9:g.24509985C>T, NC_000014.8:g.24979191C>A, NC_000014.8:g.24979191C>T

Select item 148244980719.

rs1482449807 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:24507442 (GRCh38)
14:24976648 (GRCh37)
Canonical SPDI:: NC_000014.9:24507441:A:G
Gene:: CMA1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_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_000014.9:g.24507442A>G, NC_000014.8:g.24976648A>G, NM_001836.5:c.123T>C, NM_001836.4:c.123T>C, NM_001836.3:c.123T>C

Select item 148194633920.

rs1481946339 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 14:24504868 (GRCh38)
14:24974074 (GRCh37)
Canonical SPDI:: NC_000014.9:24504867:G:A,NC_000014.9:24504867:G:C,NC_000014.9:24504867:G:T
Gene:: CMA1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000106/2 (TOMMO)
HGVS:: NC_000014.9:g.24504868G>A, NC_000014.9:g.24504868G>C, NC_000014.9:g.24504868G>T, NC_000014.8:g.24974074G>A, NC_000014.8:g.24974074G>C, NC_000014.8:g.24974074G>T

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