SNP Links for Gene (Select 23624) - SNP

Links from Gene

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Select item 14912141601.

rs1491214160 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 19:44799693 (GRCh38)
19:45302951 (GRCh37)
Canonical SPDI:: NC_000019.10:44799693::G
Gene:: CBLC (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000037/5 (GnomAD)
HGVS:: NC_000019.10:g.44799693_44799694insG, NC_000019.9:g.45302950_45302951insG, NG_054718.1:g.26839_26840insG

Select item 14909852962.

rs1490985296 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:44787280 (GRCh38)
19:45290537 (GRCh37)
Canonical SPDI:: NC_000019.10:44787279:G:C
Gene:: CBLC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000026/7 (TOPMED)
HGVS:: NC_000019.10:g.44787280G>C, NC_000019.9:g.45290537G>C, NG_054718.1:g.14426G>C

Select item 14908517763.

rs1490851776 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:44801128 (GRCh38)
19:45304385 (GRCh37)
Canonical SPDI:: NC_000019.10:44801127:G:A
Gene:: CBLC (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000019.10:g.44801128G>A, NC_000019.9:g.45304385G>A, NG_054718.1:g.28274G>A

Select item 14906544124.

rs1490654412 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 19:44791751 (GRCh38)
19:45295008 (GRCh37)
Canonical SPDI:: NC_000019.10:44791750:T:A,NC_000019.10:44791750:T:G
Gene:: CBLC (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00088/25 (TOMMO)
G=0.00164/3 (Korea1K)
HGVS:: NC_000019.10:g.44791751T>A, NC_000019.10:g.44791751T>G, NC_000019.9:g.45295008T>A, NC_000019.9:g.45295008T>G, NG_054718.1:g.18897T>A, NG_054718.1:g.18897T>G

Select item 14904592685.

rs1490459268 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GACCTC [Show Flanks]
Chromosome:: 19:44794418 (GRCh38)
19:45297676 (GRCh37)
Canonical SPDI:: NC_000019.10:44794418:GACCTC:GACCTCGACCTC
Gene:: CBLC (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GACCTCGACCTC=0./0 (ALFA)
GACCTC=0.000004/1 (TOPMED)
GACCTC=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.44794419_44794424dup, NC_000019.9:g.45297676_45297681dup, NG_054718.1:g.21565_21570dup

Select item 14903924046.

rs1490392404 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:44778548 (GRCh38)
19:45281805 (GRCh37)
Canonical SPDI:: NC_000019.10:44778547:C:G
Gene:: CBLC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: C=0./0 (SGDP_PRJ)
HGVS:: NC_000019.10:g.44778548C>G, NC_000019.9:g.45281805C>G, NG_054718.1:g.5694C>G

Select item 14900336597.

rs1490033659 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:44800750 (GRCh38)
19:45304007 (GRCh37)
Canonical SPDI:: NC_000019.10:44800749:C:G
Gene:: CBLC (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000342/1 (KOREAN)
HGVS:: NC_000019.10:g.44800750C>G, NC_000019.9:g.45304007C>G, NG_054718.1:g.27896C>G

Select item 14899025268.

rs1489902526 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 19:44799755 (GRCh38)
19:45303012 (GRCh37)
Canonical SPDI:: NC_000019.10:44799754:T:A,NC_000019.10:44799754:T:C,NC_000019.10:44799754:T:G
Gene:: CBLC (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.002116/24 (ALFA)
C=0.000008/2 (TOPMED)
G=0.000249/20 (GnomAD)
A=0.013689/40 (KOREAN)
HGVS:: NC_000019.10:g.44799755T>A, NC_000019.10:g.44799755T>C, NC_000019.10:g.44799755T>G, NC_000019.9:g.45303012T>A, NC_000019.9:g.45303012T>C, NC_000019.9:g.45303012T>G, NG_054718.1:g.26901T>A, NG_054718.1:g.26901T>C, NG_054718.1:g.26901T>G

Select item 14899022679.

rs1489902267 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:44786569 (GRCh38)
19:45289826 (GRCh37)
Canonical SPDI:: NC_000019.10:44786568:T:G
Gene:: CBLC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.44786569T>G, NC_000019.9:g.45289826T>G, NG_054718.1:g.13715T>G

Select item 148988866810.

rs1489888668 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:44788639 (GRCh38)
19:45291896 (GRCh37)
Canonical SPDI:: NC_000019.10:44788638:C:T
Gene:: CBLC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000066/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000223/1 (Estonian)
HGVS:: NC_000019.10:g.44788639C>T, NC_000019.9:g.45291896C>T, NG_054718.1:g.15785C>T

Select item 148961665711.

rs1489616657 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:44786395 (GRCh38)
19:45289652 (GRCh37)
Canonical SPDI:: NC_000019.10:44786394:T:C
Gene:: CBLC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
C=0.000342/1 (KOREAN)
C=0.001168/20 (TOMMO)
C=0.002183/4 (Korea1K)
HGVS:: NC_000019.10:g.44786395T>C, NC_000019.9:g.45289652T>C, NG_054718.1:g.13541T>C

Select item 148958137812.

rs1489581378 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:44788431 (GRCh38)
19:45291688 (GRCh37)
Canonical SPDI:: NC_000019.10:44788430:G:T
Gene:: CBLC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000019.10:g.44788431G>T, NC_000019.9:g.45291688G>T, NG_054718.1:g.15577G>T

Select item 148956943813.

rs1489569438 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:44784273 (GRCh38)
19:45287530 (GRCh37)
Canonical SPDI:: NC_000019.10:44784272:C:G
Gene:: CBLC (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.44784273C>G, NC_000019.9:g.45287530C>G, NG_054718.1:g.11419C>G, NM_012116.4:c.789C>G, NM_012116.3:c.789C>G, XM_005258696.4:c.789C>G, XM_005258696.3:c.789C>G, XM_005258696.2:c.789C>G, XM_005258696.1:c.789C>G, XM_011526688.3:c.789C>G, XM_011526688.2:c.789C>G, XM_011526688.1:c.789C>G, XM_011526690.3:c.667C>G, XM_011526690.2:c.667C>G, XM_011526690.1:c.667C>G, XM_047438551.1:c.789C>G, XM_047438552.1:c.667C>G, NP_036248.3:p.Phe263Leu, XP_005258753.1:p.Phe263Leu, XP_011524990.1:p.Phe263Leu, XP_011524992.1:p.Pro223Ala, XP_047294507.1:p.Phe263Leu, XP_047294508.1:p.Pro223Ala

Select item 148952690114.

rs1489526901 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:44778481 (GRCh38)
19:45281738 (GRCh37)
Canonical SPDI:: NC_000019.10:44778480:G:A,NC_000019.10:44778480:G:C
Gene:: CBLC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00278/33 (ALFA)
G=0./0 (SGDP_PRJ)
C=0.11879/287 (KOREAN)
HGVS:: NC_000019.10:g.44778481G>A, NC_000019.10:g.44778481G>C, NC_000019.9:g.45281738G>A, NC_000019.9:g.45281738G>C, NG_054718.1:g.5627G>A, NG_054718.1:g.5627G>C

Select item 148946649515.

rs1489466495 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 19:44779681 (GRCh38)
19:45282938 (GRCh37)
Canonical SPDI:: NC_000019.10:44779680:A:
Gene:: CBLC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: -=0.000057/8 (GnomAD)
HGVS:: NC_000019.10:g.44779681del, NC_000019.9:g.45282938del, NG_054718.1:g.6827del

Select item 148916487816.

rs1489164878 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:44780685 (GRCh38)
19:45283942 (GRCh37)
Canonical SPDI:: NC_000019.10:44780684:T:C
Gene:: CBLC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000796/13 (ALFA)
C=0.000083/11 (GnomAD)
C=0.001092/2 (Korea1K)
C=0.001097/18 (TOMMO)
C=0.001249/8 (1000Genomes)
C=0.002679/12 (Estonian)
C=0.028063/82 (KOREAN)
HGVS:: NC_000019.10:g.44780685T>C, NC_000019.9:g.45283942T>C, NG_054718.1:g.7831T>C

Select item 148909977017.

rs1489099770 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 19:44778409 (GRCh38)
19:45281666 (GRCh37)
Canonical SPDI:: NC_000019.10:44778408:CCCCC:CCCC
Gene:: CBLC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CCCC=0./0 (ALFA)
HGVS:: NC_000019.10:g.44778413del, NC_000019.9:g.45281670del, NG_054718.1:g.5559del

Select item 148883000318.

rs1488830003 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:44793127 (GRCh38)
19:45296384 (GRCh37)
Canonical SPDI:: NC_000019.10:44793126:G:C
Gene:: CBLC (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000019.10:g.44793127G>C, NC_000019.9:g.45296384G>C, NG_054718.1:g.20273G>C

Select item 148870057919.

rs1488700579 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:44782087 (GRCh38)
19:45285344 (GRCh37)
Canonical SPDI:: NC_000019.10:44782086:T:C
Gene:: CBLC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.44782087T>C, NC_000019.9:g.45285344T>C, NG_054718.1:g.9233T>C

Select item 148858551620.

rs1488585516 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:44786069 (GRCh38)
19:45289326 (GRCh37)
Canonical SPDI:: NC_000019.10:44786068:A:C
Gene:: CBLC (Varview)
Functional Consequence:: intron_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_000019.10:g.44786069A>C, NC_000019.9:g.45289326A>C, NG_054718.1:g.13215A>C

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