SNP Links for Gene (Select 4680) - SNP

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Select item 14910733071.

rs1491073307 has merged into rs11296330 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 19:41753562 (GRCh38)
19:42257470 (GRCh37)
Canonical SPDI:: NC_000019.10:41753550:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:41753550:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:41753550:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:41753550:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:41753550:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:41753550:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:41753550:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:41753550:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:41753550:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CEACAM6 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
T=0.3131/1568 (1000Genomes)
-=0.475/19 (GENOME_DK)
-=0.5/4 (KOREAN)
HGVS:: NC_000019.10:g.41753562_41753565del, NC_000019.10:g.41753563_41753565del, NC_000019.10:g.41753564_41753565del, NC_000019.10:g.41753565del, NC_000019.10:g.41753565dup, NC_000019.10:g.41753564_41753565dup, NC_000019.10:g.41753563_41753565dup, NC_000019.10:g.41753562_41753565dup, NC_000019.10:g.41753556_41753565dup, NW_004775434.1:g.322601_322604del, NW_004775434.1:g.322602_322604del, NW_004775434.1:g.322603_322604del, NW_004775434.1:g.322604del, NW_004775434.1:g.322604dup, NW_004775434.1:g.322603_322604dup, NW_004775434.1:g.322602_322604dup, NW_004775434.1:g.322601_322604dup, NW_004775434.1:g.322595_322604dup, NC_000019.9:g.42257470_42257473del, NC_000019.9:g.42257471_42257473del, NC_000019.9:g.42257472_42257473del, NC_000019.9:g.42257473del, NC_000019.9:g.42257473dup, NC_000019.9:g.42257472_42257473dup, NC_000019.9:g.42257471_42257473dup, NC_000019.9:g.42257470_42257473dup, NC_000019.9:g.42257464_42257473dup

Select item 14908439162.

rs1490843916 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:41763695 (GRCh38)
19:42267603 (GRCh37)
Canonical SPDI:: NC_000019.10:41763694:G:A,NC_000019.10:41763694:G:T
Gene:: CEACAM6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000019.10:g.41763695G>A, NC_000019.10:g.41763695G>T, NW_004775434.1:g.332734G>A, NW_004775434.1:g.332734G>T, NC_000019.9:g.42267603G>A, NC_000019.9:g.42267603G>T

Select item 14908055333.

rs1490805533 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTG>- [Show Flanks]
Chromosome:: 19:41771449 (GRCh38)
19:42275354 (GRCh37)
Canonical SPDI:: NC_000019.10:41771442:TTGTTGTTG:TTGTTG
Gene:: CEACAM6 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTGTTG=0.000356/5 (ALFA)
-=0.000114/16 (GnomAD)
-=0.000128/34 (TOPMED)
-=0.000468/3 (1000Genomes)
HGVS:: NC_000019.10:g.41771443TTG[2], NW_004775434.1:g.340482TTG[2], NC_000019.9:g.42275348TTG[2], NM_002483.7:c.*682TTG[2], NM_002483.6:c.*682TTG[2], NM_002483.5:c.*682TTG[2], NM_002483.4:c.*682TTG[2], XM_011526990.3:c.*625TTG[2], XM_011526990.2:c.*625TTG[2], XM_011526990.1:c.*625TTG[2]

Select item 14904069944.

rs1490406994 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:41765428 (GRCh38)
19:42269336 (GRCh37)
Canonical SPDI:: NC_000019.10:41765427:A:G
Gene:: CEACAM6 (Varview)
Functional Consequence:: intron_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_000019.10:g.41765428A>G, NW_004775434.1:g.334467A>G, NC_000019.9:g.42269336A>G

Select item 14899889465.

rs1489988946 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 19:41770810 (GRCh38)
19:42274715 (GRCh37)
Canonical SPDI:: NC_000019.10:41770809:A:
Gene:: CEACAM6 (Varview)
Functional Consequence:: frameshift_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000057/8 (GnomAD)
-=0.00006/16 (TOPMED)
HGVS:: NC_000019.10:g.41770810del, NW_004775434.1:g.339849del, NC_000019.9:g.42274715del, NM_002483.7:c.*49del, NM_002483.6:c.*49del, NM_002483.5:c.*49del, NM_002483.4:c.*49del, XM_011526990.3:c.967del, XM_011526990.2:c.967del, XM_011526990.1:c.967del, XP_011525292.1:p.Arg323fs

Select item 14899664286.

rs1489966428 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:41756613 (GRCh38)
19:42260521 (GRCh37)
Canonical SPDI:: NC_000019.10:41756612:C:T
Gene:: CEACAM6 (Varview), LOC112268252 (Varview)
Functional Consequence:: synonymous_variant,downstream_transcript_variant,500B_downstream_variant,coding_sequence_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_000019.10:g.41756613C>T, NW_004775434.1:g.325652C>T, NC_000019.9:g.42260521C>T, NM_002483.7:c.78C>T, NM_002483.6:c.78C>T, NM_002483.5:c.78C>T, NM_002483.4:c.78C>T, XM_011526990.3:c.78C>T, XM_011526990.2:c.78C>T, XM_011526990.1:c.78C>T

Select item 14899363177.

rs1489936317 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:41755766 (GRCh38)
19:42259674 (GRCh37)
Canonical SPDI:: NC_000019.10:41755765:T:G
Gene:: CEACAM6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000029/4 (GnomAD)
G=0.000038/10 (TOPMED)
HGVS:: NC_000019.10:g.41755766T>G, NW_004775434.1:g.324805T>G, NC_000019.9:g.42259674T>G

Select item 14891222418.

rs1489122241 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:41767515 (GRCh38)
19:42271424 (GRCh37)
Canonical SPDI:: NC_000019.10:41767514:A:G
Gene:: CEACAM6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
HGVS:: NC_000019.10:g.41767515A>G, NW_004775434.1:g.336554A>G, NC_000019.9:g.42271424A>G

Select item 14891084949.

rs1489108494 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:41763134 (GRCh38)
19:42267042 (GRCh37)
Canonical SPDI:: NC_000019.10:41763133:C:G
Gene:: CEACAM6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.41763134C>G, NW_004775434.1:g.332173C>G, NC_000019.9:g.42267042C>G

Select item 148886538210.

rs1488865382 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 19:41759581 (GRCh38)
19:42263489 (GRCh37)
Canonical SPDI:: NC_000019.10:41759580:T:C,NC_000019.10:41759580:T:G
Gene:: CEACAM6 (Varview), LOC112268252 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000023/6 (TOPMED)
G=0.000029/4 (GnomAD)
HGVS:: NC_000019.10:g.41759581T>C, NC_000019.10:g.41759581T>G, NW_004775434.1:g.328620T>C, NW_004775434.1:g.328620T>G, NC_000019.9:g.42263489T>C, NC_000019.9:g.42263489T>G

Select item 148885718511.

rs1488857185 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:41758478 (GRCh38)
19:42262386 (GRCh37)
Canonical SPDI:: NC_000019.10:41758477:G:A
Gene:: CEACAM6 (Varview), LOC112268252 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000023/6 (TOPMED)
HGVS:: NC_000019.10:g.41758478G>A, NW_004775434.1:g.327517G>A, NC_000019.9:g.42262386G>A

Select item 148868550712.

rs1488685507 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:41767626 (GRCh38)
19:42271535 (GRCh37)
Canonical SPDI:: NC_000019.10:41767625:C:A
Gene:: CEACAM6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.41767626C>A, NW_004775434.1:g.336665C>A, NC_000019.9:g.42271535C>A

Select item 148845794813.

rs1488457948 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:41762279 (GRCh38)
19:42266187 (GRCh37)
Canonical SPDI:: NC_000019.10:41762278:G:A
Gene:: CEACAM6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000023/6 (TOPMED)
HGVS:: NC_000019.10:g.41762279G>A, NW_004775434.1:g.331318G>A, NC_000019.9:g.42266187G>A

Select item 148822181414.

rs1488221814 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:41771927 (GRCh38)
19:42275832 (GRCh37)
Canonical SPDI:: NC_000019.10:41771926:A:C
Gene:: CEACAM6 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
HGVS:: NC_000019.10:g.41771927A>C, NW_004775434.1:g.340966A>C, NC_000019.9:g.42275832A>C, NM_002483.7:c.*1166A>C, NM_002483.6:c.*1166A>C, NM_002483.5:c.*1166A>C, NM_002483.4:c.*1166A>C, XM_011526990.3:c.*1109A>C, XM_011526990.2:c.*1109A>C, XM_011526990.1:c.*1109A>C

Select item 148817621015.

rs1488176210 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:41757451 (GRCh38)
19:42261359 (GRCh37)
Canonical SPDI:: NC_000019.10:41757450:G:A
Gene:: CEACAM6 (Varview), LOC112268252 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000023/6 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000019.10:g.41757451G>A, NW_004775434.1:g.326490G>A, NC_000019.9:g.42261359G>A, XR_002958447.2:n.966C>T, XR_002958447.1:n.2829C>T

Select item 148804143516.

rs1488041435 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:41766736 (GRCh38)
19:42270644 (GRCh37)
Canonical SPDI:: NC_000019.10:41766735:G:A
Gene:: CEACAM6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.00008/1 (ALFA)
HGVS:: NC_000019.10:g.41766736G>A, NW_004775434.1:g.335775G>A, NC_000019.9:g.42270644G>A

Select item 148776815417.

rs1487768154 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCT>- [Show Flanks]
Chromosome:: 19:41757544 (GRCh38)
19:42261452 (GRCh37)
Canonical SPDI:: NC_000019.10:41757537:CCTCCTCCT:CCTCCT
Gene:: CEACAM6 (Varview), LOC112268252 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCTCCT=0.000071/1 (ALFA)
-=0.000023/6 (TOPMED)
-=0.000036/5 (GnomAD)
HGVS:: NC_000019.10:g.41757538CCT[2], NW_004775434.1:g.326577CCT[2], NC_000019.9:g.42261446CCT[2], XR_002958447.2:n.871AGG[2], XR_002958447.1:n.2734AGG[2]

Select item 148770217118.

rs1487702171 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:41770035 (GRCh38)
19:42273940 (GRCh37)
Canonical SPDI:: NC_000019.10:41770034:C:A
Gene:: CEACAM6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.41770035C>A, NW_004775434.1:g.339074C>A, NC_000019.9:g.42273940C>A

Select item 148756511119.

rs1487565111 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:41754642 (GRCh38)
19:42258550 (GRCh37)
Canonical SPDI:: NC_000019.10:41754641:T:C
Gene:: CEACAM6 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_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_000019.10:g.41754642T>C, NW_004775434.1:g.323681T>C, NC_000019.9:g.42258550T>C

Select item 148748592920.

rs1487485929 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:41766988 (GRCh38)
19:42270896 (GRCh37)
Canonical SPDI:: NC_000019.10:41766987:A:G
Gene:: CEACAM6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/1 (GnomAD)
G=0.000035/1 (TOMMO)
HGVS:: NC_000019.10:g.41766988A>G, NW_004775434.1:g.336027A>G, NC_000019.9:g.42270896A>G

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