SNP Links for Gene (Select 90273) - SNP

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Select item 14914018821.

rs1491401882 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CT [Show Flanks]
Chromosome:: 19:41578304 (GRCh38)
19:42084658 (GRCh37)
Canonical SPDI:: NC_000019.10:41578304:T:TCT
Gene:: CEACAM21 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TCT=0./0 (ALFA)
TC=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.41578305_41578306insCT, NW_004775434.1:g.147344_147345insCT, NT_187620.1:g.103696_103697insGA, NC_000019.9:g.42084658_42084659insCT

Select item 14913916812.

rs1491391681 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ACAG [Show Flanks]
Chromosome:: 19:41565563 (GRCh38)
19:42071918 (GRCh37)
Canonical SPDI:: NC_000019.10:41565563:ACAGACAG:ACAGACAGACAG
Gene:: CEACAM21 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACAGACAGACAG=0.400017/4745 (ALFA)
ACAG=0.445711/12586 (TOMMO)
ACAG=0.448017/57839 (GnomAD)
ACAG=0.485946/3112 (1000Genomes)
HGVS:: NC_000019.10:g.41565564ACAG[3], NW_004775434.1:g.134603ACAG[3], NT_187620.1:g.116430CTGT[3], NC_000019.9:g.42071918ACAG[4]

Select item 14913627593.

rs1491362759 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 19:41565565 (GRCh38)
19:1 (GRCh37)
Canonical SPDI:: NC_000019.10:41565562:CACA:CA
Gene:: CEACAM21 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACA=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000026/2 (GnomAD)
HGVS:: NC_000019.10:g.41565563CA[1], NW_004775434.1:g.134602CA[1], NT_187620.1:g.116435TG[1]

Select item 14913143484.

rs1491314348 has merged into rs34093847 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTT>-,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT [Show Flanks]
Chromosome:: 19:41578313 (GRCh38)
19:42084665 (GRCh37)
Canonical SPDI:: NC_000019.10:41578303:TTTTTTTTTTTTTTT:TTTTTTTTT,NC_000019.10:41578303:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:41578303:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:41578303:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:41578303:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:41578303:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:41578303:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:41578303:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
Gene:: CEACAM21 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.1266/488 (ALSPAC)
HGVS:: NC_000019.10:g.41578313_41578318del, NC_000019.10:g.41578316_41578318del, NC_000019.10:g.41578317_41578318del, NC_000019.10:g.41578318del, NC_000019.10:g.41578318dup, NC_000019.10:g.41578317_41578318dup, NC_000019.10:g.41578316_41578318dup, NC_000019.10:g.41578315_41578318dup, NW_004775434.1:g.147352_147357del, NW_004775434.1:g.147355_147357del, NW_004775434.1:g.147356_147357del, NW_004775434.1:g.147357del, NW_004775434.1:g.147357dup, NW_004775434.1:g.147356_147357dup, NW_004775434.1:g.147355_147357dup, NW_004775434.1:g.147354_147357dup, NT_187620.1:g.103692_103697del, NT_187620.1:g.103695_103697del, NT_187620.1:g.103696_103697del, NT_187620.1:g.103697del, NT_187620.1:g.103697dup, NT_187620.1:g.103696_103697dup, NT_187620.1:g.103695_103697dup, NT_187620.1:g.103694_103697dup, NC_000019.9:g.42084666_42084671del, NC_000019.9:g.42084669_42084671del, NC_000019.9:g.42084670_42084671del, NC_000019.9:g.42084671del, NC_000019.9:g.42084671dup, NC_000019.9:g.42084670_42084671dup, NC_000019.9:g.42084669_42084671dup, NC_000019.9:g.42084668_42084671dup

Select item 14910176495.

rs1491017649 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AT [Show Flanks]
Chromosome:: 19:41551161 (GRCh38)
19:42057532 (GRCh37)
Canonical SPDI:: NC_000019.10:41551161:T:TAT
Gene:: CEACAM21 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TAT=0./0 (ALFA)
TA=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.41551162_41551163insAT, NW_004775434.1:g.120201_120202insAT, NT_187620.1:g.130839_130840insTA, NC_000019.9:g.42057532_42057533insAT

Select item 14909169806.

rs1490916980 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:41551871 (GRCh38)
19:42058241 (GRCh37)
Canonical SPDI:: NC_000019.10:41551870:G:A
Gene:: CEACAM21 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.41551871G>A, NW_004775434.1:g.120910G>A, NT_187620.1:g.130130C>T, NC_000019.9:g.42058241G>A

Select item 14908996997.

rs1490899699 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:41566847 (GRCh38)
19:42073205 (GRCh37)
Canonical SPDI:: NC_000019.10:41566846:A:C
Gene:: CEACAM21 (Varview)
Functional Consequence:: intron_variant,genic_upstream_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_000019.10:g.41566847A>C, NW_004775434.1:g.135886A>C, NT_187620.1:g.115154T>G, NC_000019.9:g.42073205A>C

Select item 14908299718.

rs1490829971 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:41573866 (GRCh38)
19:42080218 (GRCh37)
Canonical SPDI:: NC_000019.10:41573865:A:G
Gene:: CEACAM21 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_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_000019.10:g.41573866A>G, NW_004775434.1:g.142905A>G, NT_187620.1:g.108135T>C, NC_000019.9:g.42080218A>G

Select item 14907608099.

rs1490760809 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:41559075 (GRCh38)
19:42065445 (GRCh37)
Canonical SPDI:: NC_000019.10:41559074:T:C
Gene:: CEACAM21 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000036/5 (GnomAD)
C=0.000038/10 (TOPMED)
C=0.000312/2 (1000Genomes)
HGVS:: NC_000019.10:g.41559075T>C, NW_004775434.1:g.128114T>C, NT_187620.1:g.122926A>G, NC_000019.9:g.42065445T>C

Select item 149075231510.

rs1490752315 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:41575929 (GRCh38)
19:42082281 (GRCh37)
Canonical SPDI:: NC_000019.10:41575928:C:G,NC_000019.10:41575928:C:T
Gene:: CEACAM21 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.41575929C>G, NC_000019.10:g.41575929C>T, NW_004775434.1:g.144968C>G, NW_004775434.1:g.144968C>T, NT_187620.1:g.106072G>C, NT_187620.1:g.106072G>A, NC_000019.9:g.42082281C>G, NC_000019.9:g.42082281C>T, XM_017027432.3:c.70C>G, XM_017027432.3:c.70C>T, XM_017027432.2:c.70C>G, XM_017027432.2:c.70C>T, XM_017027432.1:c.70C>G, XM_017027432.1:c.70C>T, XM_017027430.2:c.70C>G, XM_017027430.2:c.70C>T, XM_017027430.1:c.70C>G, XM_017027430.1:c.70C>T, XM_017027431.2:c.70C>G, XM_017027431.2:c.70C>T, XM_017027431.1:c.70C>G, XM_017027431.1:c.70C>T, XM_047439608.1:c.70C>G, XM_047439608.1:c.70C>T, XM_047439609.1:c.70C>G, XM_047439609.1:c.70C>T, XP_016882921.1:p.Pro24Ala, XP_016882921.1:p.Pro24Ser, XP_016882919.1:p.Pro24Ala, XP_016882919.1:p.Pro24Ser, XP_016882920.1:p.Pro24Ala, XP_016882920.1:p.Pro24Ser, XP_047295564.1:p.Pro24Ala, XP_047295564.1:p.Pro24Ser, XP_047295565.1:p.Pro24Ala, XP_047295565.1:p.Pro24Ser

Select item 149070892311.

rs1490708923 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:41560047 (GRCh38)
19:42066417 (GRCh37)
Canonical SPDI:: NC_000019.10:41560046:A:G
Gene:: CEACAM21 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.41560047A>G, NW_004775434.1:g.129086A>G, NT_187620.1:g.121954T>C, NC_000019.9:g.42066417A>G

Select item 149069656712.

rs1490696567 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:41574833 (GRCh38)
19:42081185 (GRCh37)
Canonical SPDI:: NC_000019.10:41574832:C:G
Gene:: CEACAM21 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000021/3 (GnomAD)
G=0.00003/8 (TOPMED)
HGVS:: NC_000019.10:g.41574833C>G, NW_004775434.1:g.143872C>G, NT_187620.1:g.107168G>C, NC_000019.9:g.42081185C>G

Select item 149058986913.

rs1490589869 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:41576385 (GRCh38)
19:42082737 (GRCh37)
Canonical SPDI:: NC_000019.10:41576384:G:A
Gene:: CEACAM21 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000019.10:g.41576385G>A, NW_004775434.1:g.145424G>A, NT_187620.1:g.105616C>T, NC_000019.9:g.42082737G>A

Select item 149054748414.

rs1490547484 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:41560492 (GRCh38)
19:42066862 (GRCh37)
Canonical SPDI:: NC_000019.10:41560491:T:G
Gene:: CEACAM21 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000043/6 (GnomAD)
G=0.000045/12 (TOPMED)
HGVS:: NC_000019.10:g.41560492T>G, NW_004775434.1:g.129531T>G, NT_187620.1:g.121509A>C, NC_000019.9:g.42066862T>G

Select item 149045546815.

rs1490455468 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:41567898 (GRCh38)
19:42074255 (GRCh37)
Canonical SPDI:: NC_000019.10:41567897:A:C
Gene:: CEACAM21 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000019.10:g.41567898A>C, NW_004775434.1:g.136937A>C, NT_187620.1:g.114103T>G, NC_000019.9:g.42074255A>C

Select item 149043727016.

rs1490437270 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:41582697 (GRCh38)
19:42089050 (GRCh37)
Canonical SPDI:: NC_000019.10:41582696:C:T
Gene:: CEACAM21 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.41582697C>T, NW_004775434.1:g.151736C>T, NT_187620.1:g.99304G>A, NC_000019.9:g.42089050C>T

Select item 149030439117.

rs1490304391 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:41557385 (GRCh38)
19:42063755 (GRCh37)
Canonical SPDI:: NC_000019.10:41557384:C:A
Gene:: CEACAM21 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_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_000019.10:g.41557385C>A, NW_004775434.1:g.126424C>A, NT_187620.1:g.124616G>T, NC_000019.9:g.42063755C>A

Select item 149020564418.

rs1490205644 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:41574398 (GRCh38)
19:42080750 (GRCh37)
Canonical SPDI:: NC_000019.10:41574397:A:C
Gene:: CEACAM21 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.41574398A>C, NW_004775434.1:g.143437A>C, NT_187620.1:g.107603T>G, NC_000019.9:g.42080750A>C

Select item 148997103819.

rs1489971038 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:41581229 (GRCh38)
19:42087582 (GRCh37)
Canonical SPDI:: NC_000019.10:41581228:A:G
Gene:: CEACAM21 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,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_000019.10:g.41581229A>G, NW_004775434.1:g.150268A>G, NT_187620.1:g.100772T>C, NC_000019.9:g.42087582A>G

Select item 148994555620.

rs1489945556 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:41582260 (GRCh38)
19:42088613 (GRCh37)
Canonical SPDI:: NC_000019.10:41582259:G:A
Gene:: CEACAM21 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.41582260G>A, NW_004775434.1:g.151299G>A, NT_187620.1:g.99741C>T, NC_000019.9:g.42088613G>A

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