SNP Links for Gene (Select 140689) - SNP

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Select item 14902661681.

rs1490266168 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:56006756 (GRCh38)
20:54581812 (GRCh37)
Canonical SPDI:: NC_000020.11:56006755:A:G
Gene:: CBLN4 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.56006756A>G, NC_000020.10:g.54581812A>G

Select item 14899418642.

rs1489941864 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 20:56005179 (GRCh38)
20:54580235 (GRCh37)
Canonical SPDI:: NC_000020.11:56005178:G:T
Gene:: CBLN4 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000020.11:g.56005179G>T, NC_000020.10:g.54580235G>T, NM_080617.6:c.-1008C>A, NM_080617.5:c.-1008C>A

Select item 14898352503.

rs1489835250 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:55997511 (GRCh38)
20:54572567 (GRCh37)
Canonical SPDI:: NC_000020.11:55997510:C:T
Gene:: CBLN4 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.55997511C>T, NC_000020.10:g.54572567C>T, NM_080617.6:c.*1046G>A, NM_080617.5:c.*1046G>A

Select item 14885303364.

rs1488530336 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:56003437 (GRCh38)
20:54578493 (GRCh37)
Canonical SPDI:: NC_000020.11:56003436:G:A
Gene:: CBLN4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.56003437G>A, NC_000020.10:g.54578493G>A

Select item 14885199085.

rs1488519908 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 20:56004331 (GRCh38)
20:54579387 (GRCh37)
Canonical SPDI:: NC_000020.11:56004330:C:G,NC_000020.11:56004330:C:T
Gene:: CBLN4 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.56004331C>G, NC_000020.11:g.56004331C>T, NC_000020.10:g.54579387C>G, NC_000020.10:g.54579387C>T, NM_080617.6:c.-160G>C, NM_080617.6:c.-160G>A, NM_080617.5:c.-160G>C, NM_080617.5:c.-160G>A

Select item 14884172756.

rs1488417275 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 20:56005598 (GRCh38)
20:54580654 (GRCh37)
Canonical SPDI:: NC_000020.11:56005597:G:A,NC_000020.11:56005597:G:C
Gene:: CBLN4 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000020.11:g.56005598G>A, NC_000020.11:g.56005598G>C, NC_000020.10:g.54580654G>A, NC_000020.10:g.54580654G>C

Select item 14878671327.

rs1487867132 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 20:56003514 (GRCh38)
20:54578570 (GRCh37)
Canonical SPDI:: NC_000020.11:56003513:T:A,NC_000020.11:56003513:T:C
Gene:: CBLN4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
C=0.000035/1 (TOMMO)
HGVS:: NC_000020.11:g.56003514T>A, NC_000020.11:g.56003514T>C, NC_000020.10:g.54578570T>A, NC_000020.10:g.54578570T>C

Select item 14877732518.

rs1487773251 has merged into rs542570685 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 20:56006978 (GRCh38)
20:54582034 (GRCh37)
Canonical SPDI:: NC_000020.11:56006967:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000020.11:56006967:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000020.11:56006967:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000020.11:56006967:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000020.11:56006967:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000020.11:56006967:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000020.11:56006967:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000020.11:56006967:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000020.11:56006967:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000020.11:56006967:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000020.11:56006967:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000020.11:56006967:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:56006967:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:56006967:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:56006967:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:56006967:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:56006967:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:56006967:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:56006967:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:56006967:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:56006967:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:56006967:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:56006967:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:56006967:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:56006967:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:56006967:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:56006967:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:56006967:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:56006967:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:56006967:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:56006967:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:56006967:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:56006967:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CBLN4 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
AAAAAAAA=0.3309/1657 (1000Genomes)
HGVS:: NC_000020.11:g.56006978_56006995del, NC_000020.11:g.56006980_56006995del, NC_000020.11:g.56006981_56006995del, NC_000020.11:g.56006982_56006995del, NC_000020.11:g.56006983_56006995del, NC_000020.11:g.56006984_56006995del, NC_000020.11:g.56006985_56006995del, NC_000020.11:g.56006986_56006995del, NC_000020.11:g.56006987_56006995del, NC_000020.11:g.56006988_56006995del, NC_000020.11:g.56006989_56006995del, NC_000020.11:g.56006990_56006995del, NC_000020.11:g.56006991_56006995del, NC_000020.11:g.56006992_56006995del, NC_000020.11:g.56006993_56006995del, NC_000020.11:g.56006994_56006995del, NC_000020.11:g.56006995del, NC_000020.11:g.56006995dup, NC_000020.11:g.56006994_56006995dup, NC_000020.11:g.56006993_56006995dup, NC_000020.11:g.56006992_56006995dup, NC_000020.11:g.56006991_56006995dup, NC_000020.11:g.56006990_56006995dup, NC_000020.11:g.56006989_56006995dup, NC_000020.11:g.56006988_56006995dup, NC_000020.11:g.56006987_56006995dup, NC_000020.11:g.56006984_56006995dup, NC_000020.11:g.56006983_56006995dup, NC_000020.11:g.56006982_56006995dup, NC_000020.11:g.56006981_56006995dup, NC_000020.11:g.56006980_56006995dup, NC_000020.11:g.56006979_56006995dup, NC_000020.11:g.56006978_56006995dup, NC_000020.10:g.54582034_54582051del, NC_000020.10:g.54582036_54582051del, NC_000020.10:g.54582037_54582051del, NC_000020.10:g.54582038_54582051del, NC_000020.10:g.54582039_54582051del, NC_000020.10:g.54582040_54582051del, NC_000020.10:g.54582041_54582051del, NC_000020.10:g.54582042_54582051del, NC_000020.10:g.54582043_54582051del, NC_000020.10:g.54582044_54582051del, NC_000020.10:g.54582045_54582051del, NC_000020.10:g.54582046_54582051del, NC_000020.10:g.54582047_54582051del, NC_000020.10:g.54582048_54582051del, NC_000020.10:g.54582049_54582051del, NC_000020.10:g.54582050_54582051del, NC_000020.10:g.54582051del, NC_000020.10:g.54582051dup, NC_000020.10:g.54582050_54582051dup, NC_000020.10:g.54582049_54582051dup, NC_000020.10:g.54582048_54582051dup, NC_000020.10:g.54582047_54582051dup, NC_000020.10:g.54582046_54582051dup, NC_000020.10:g.54582045_54582051dup, NC_000020.10:g.54582044_54582051dup, NC_000020.10:g.54582043_54582051dup, NC_000020.10:g.54582040_54582051dup, NC_000020.10:g.54582039_54582051dup, NC_000020.10:g.54582038_54582051dup, NC_000020.10:g.54582037_54582051dup, NC_000020.10:g.54582036_54582051dup, NC_000020.10:g.54582035_54582051dup, NC_000020.10:g.54582034_54582051dup

Select item 14876566079.

rs1487656607 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:56005611 (GRCh38)
20:54580667 (GRCh37)
Canonical SPDI:: NC_000020.11:56005610:C:T
Gene:: CBLN4 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000020.11:g.56005611C>T, NC_000020.10:g.54580667C>T

Select item 148743468210.

rs1487434682 [Homo sapiens]

Variant type:: SNV:
Alleles:: G>A
Chromosome:: no mapping
Canonical SPDI:

Select item 148700980511.

rs1487009805 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 20:56002627 (GRCh38)
20:54577683 (GRCh37)
Canonical SPDI:: NC_000020.11:56002626:G:T
Gene:: CBLN4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000023/6 (TOPMED)
HGVS:: NC_000020.11:g.56002627G>T, NC_000020.10:g.54577683G>T

Select item 148641898512.

rs1486418985 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 20:56002691 (GRCh38)
20:54577747 (GRCh37)
Canonical SPDI:: NC_000020.11:56002690:C:A
Gene:: CBLN4 (Varview)
Functional Consequence:: intron_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_000020.11:g.56002691C>A, NC_000020.10:g.54577747C>A

Select item 148606494413.

rs1486064944 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:56003645 (GRCh38)
20:54578701 (GRCh37)
Canonical SPDI:: NC_000020.11:56003644:C:T
Gene:: CBLN4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.56003645C>T, NC_000020.10:g.54578701C>T

Select item 148579423714.

rs1485794237 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:56001237 (GRCh38)
20:54576293 (GRCh37)
Canonical SPDI:: NC_000020.11:56001236:G:A
Gene:: CBLN4 (Varview)
Functional Consequence:: intron_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_000020.11:g.56001237G>A, NC_000020.10:g.54576293G>A

Select item 148539310115.

rs1485393101 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:55998588 (GRCh38)
20:54573644 (GRCh37)
Canonical SPDI:: NC_000020.11:55998587:G:A
Gene:: CBLN4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000020.11:g.55998588G>A, NC_000020.10:g.54573644G>A, NM_080617.6:c.575C>T, NM_080617.5:c.575C>T, NP_542184.1:p.Thr192Met

Select item 148456757316.

rs1484567573 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 20:55999318 (GRCh38)
20:54574374 (GRCh37)
Canonical SPDI:: NC_000020.11:55999317:A:T
Gene:: CBLN4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000043/6 (GnomAD)
HGVS:: NC_000020.11:g.55999318A>T, NC_000020.10:g.54574374A>T

Select item 148449141917.

rs1484491419 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:56001630 (GRCh38)
20:54576686 (GRCh37)
Canonical SPDI:: NC_000020.11:56001629:C:T
Gene:: CBLN4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000020.11:g.56001630C>T, NC_000020.10:g.54576686C>T

Select item 148388727218.

rs1483887272 has merged into rs1205090711 [Homo sapiens]

Variant type:: DELINS
Alleles:: TAATAA>-,TAA,TAATAATAA,TAATAATAATAA [Show Flanks]
Chromosome:: 20:56004533 (GRCh38)
20:54579589 (GRCh37)
Canonical SPDI:: NC_000020.11:56004521:AATAATAATAATAATAA:AATAATAATAA,NC_000020.11:56004521:AATAATAATAATAATAA:AATAATAATAATAA,NC_000020.11:56004521:AATAATAATAATAATAA:AATAATAATAATAATAATAA,NC_000020.11:56004521:AATAATAATAATAATAA:AATAATAATAATAATAATAATAA
Gene:: CBLN4 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AATAATAATAATAA=0./0 (ALFA)
AAT=0.00006/1 (TOMMO)
HGVS:: NC_000020.11:g.56004524TAA[3], NC_000020.11:g.56004524TAA[4], NC_000020.11:g.56004524TAA[6], NC_000020.11:g.56004524TAA[7], NC_000020.10:g.54579580TAA[3], NC_000020.10:g.54579580TAA[4], NC_000020.10:g.54579580TAA[6], NC_000020.10:g.54579580TAA[7], NM_080617.6:c.-365ATT[3], NM_080617.6:c.-365ATT[4], NM_080617.6:c.-365ATT[6], NM_080617.6:c.-365ATT[7], NM_080617.5:c.-365ATT[3], NM_080617.5:c.-365ATT[4], NM_080617.5:c.-365ATT[6], NM_080617.5:c.-365ATT[7]

Select item 148387476519.

rs1483874765 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 20:55997050 (GRCh38)
20:54572106 (GRCh37)
Canonical SPDI:: NC_000020.11:55997049:A:T
Gene:: CBLN4 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_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_000020.11:g.55997050A>T, NC_000020.10:g.54572106A>T

Select item 148384596120.

rs1483845961 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:55999472 (GRCh38)
20:54574528 (GRCh37)
Canonical SPDI:: NC_000020.11:55999471:T:C
Gene:: CBLN4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.55999472T>C, NC_000020.10:g.54574528T>C

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