SNP Links for Gene (Select 634) - SNP

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Select item 14915039371.

rs1491503937 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TTGTGTGTGT [Show Flanks]
Chromosome:: 19:42527507 (GRCh38)
19:43031660 (GRCh37)
Canonical SPDI:: NC_000019.10:42527507:TGTGTGTGT:TGTGTGTGTTTGTGTGTGT
Gene:: CEACAM1 (Varview), LIPE-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TGTGTGTGTTTGTGTGTGT=0./0 (ALFA)
TGTGTGTGTT=0.00019/4 (GnomAD)
HGVS:: NC_000019.10:g.42527508_42527516TG[4]TTTGTGTGTGT[1], NC_000019.9:g.43031660_43031668TG[4]TTTGTGTGTGT[1], NG_029051.2:g.5994_6002AC[4]AAACACACACA[1]

Select item 14909409642.

rs1490940964 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 19:42530052 (GRCh38)
19:43034204 (GRCh37)
Canonical SPDI:: NC_000019.10:42530051:CCC:CC
Gene:: CEACAM1 (Varview), LIPE-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.42530054del, NC_000019.9:g.43034206del, NG_029051.2:g.3458del

Select item 14909346513.

rs1490934651 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:42518279 (GRCh38)
19:43022431 (GRCh37)
Canonical SPDI:: NC_000019.10:42518278:G:A,NC_000019.10:42518278:G:C
Gene:: CEACAM1 (Varview), LIPE-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.42518279G>A, NC_000019.10:g.42518279G>C, NC_000019.9:g.43022431G>A, NC_000019.9:g.43022431G>C, NG_029051.2:g.15231C>T, NG_029051.2:g.15231C>G

Select item 14906407394.

rs1490640739 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:42509485 (GRCh38)
19:43013637 (GRCh37)
Canonical SPDI:: NC_000019.10:42509484:G:A
Gene:: CEACAM1 (Varview), LIPE-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000019.10:g.42509485G>A, NC_000019.9:g.43013637G>A, NG_029051.2:g.24025C>T

Select item 14906352555.

rs1490635255 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:42508001 (GRCh38)
19:43012153 (GRCh37)
Canonical SPDI:: NC_000019.10:42508000:C:T
Gene:: CEACAM1 (Varview), LIPE-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,3_prime_UTR_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.42508001C>T, NC_000019.9:g.43012153C>T, NG_029051.2:g.25509G>A, NM_001712.5:c.*1108G>A, NM_001712.4:c.*1108G>A, NM_001024912.3:c.*1241G>A, NM_001024912.2:c.*1241G>A, NM_001205344.2:c.*1224G>A, NM_001205344.1:c.*1224G>A, NM_001184815.2:c.*1108G>A, NM_001184815.1:c.*1108G>A, NM_001184813.2:c.*1108G>A, NM_001184813.1:c.*1108G>A, NM_001184816.2:c.*1241G>A, NM_001184816.1:c.*1241G>A

Select item 14906237656.

rs1490623765 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:42522497 (GRCh38)
19:43026649 (GRCh37)
Canonical SPDI:: NC_000019.10:42522496:G:A
Gene:: CEACAM1 (Varview), LIPE-AS1 (Varview), LOC105372407 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000019.10:g.42522497G>A, NC_000019.9:g.43026649G>A, NG_029051.2:g.11013C>T

Select item 14905155387.

rs1490515538 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:42526366 (GRCh38)
19:43030518 (GRCh37)
Canonical SPDI:: NC_000019.10:42526365:T:A
Gene:: CEACAM1 (Varview), LIPE-AS1 (Varview), LOC105372407 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,500B_downstream_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.42526366T>A, NC_000019.9:g.43030518T>A, NG_029051.2:g.7144A>T

Select item 14904432748.

rs1490443274 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:42517707 (GRCh38)
19:43021859 (GRCh37)
Canonical SPDI:: NC_000019.10:42517706:A:G
Gene:: CEACAM1 (Varview), LIPE-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.42517707A>G, NC_000019.9:g.43021859A>G, NG_029051.2:g.15803T>C

Select item 14903727109.

rs1490372710 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:42511076 (GRCh38)
19:43015228 (GRCh37)
Canonical SPDI:: NC_000019.10:42511075:A:C
Gene:: CEACAM1 (Varview), LIPE-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.42511076A>C, NC_000019.9:g.43015228A>C, NG_029051.2:g.22434T>G

Select item 149032592910.

rs1490325929 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 19:42510470 (GRCh38)
19:43014622 (GRCh37)
Canonical SPDI:: NC_000019.10:42510467:AGAG:AG
Gene:: CEACAM1 (Varview), LIPE-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: AGAG=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.42510468AG[1], NC_000019.9:g.43014620AG[1], NG_029051.2:g.23039CT[1]

Select item 149019046911.

rs1490190469 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:42511718 (GRCh38)
19:43015870 (GRCh37)
Canonical SPDI:: NC_000019.10:42511717:C:T
Gene:: CEACAM1 (Varview), LIPE-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_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_000019.10:g.42511718C>T, NC_000019.9:g.43015870C>T, NG_029051.2:g.21792G>A

Select item 149018940012.

rs1490189400 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 19:42512124 (GRCh38)
19:43016276 (GRCh37)
Canonical SPDI:: NC_000019.10:42512123:CC:C
Gene:: CEACAM1 (Varview), LIPE-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
-=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.42512125del, NC_000019.9:g.43016277del, NG_029051.2:g.21386del

Select item 149013241113.

rs1490132411 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:42519587 (GRCh38)
19:43023739 (GRCh37)
Canonical SPDI:: NC_000019.10:42519586:T:C
Gene:: CEACAM1 (Varview), LIPE-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000019/5 (TOPMED)
HGVS:: NC_000019.10:g.42519587T>C, NC_000019.9:g.43023739T>C, NG_029051.2:g.13923A>G

Select item 148984793014.

rs1489847930 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:42525711 (GRCh38)
19:43029863 (GRCh37)
Canonical SPDI:: NC_000019.10:42525710:G:T
Gene:: CEACAM1 (Varview), LIPE-AS1 (Varview), LOC105372407 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000019.10:g.42525711G>T, NC_000019.9:g.43029863G>T, NG_029051.2:g.7799C>A, XR_935974.3:n.702G>T, XR_935974.2:n.702G>T, XR_935974.1:n.691G>T

Select item 148971738115.

rs1489717381 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:42526806 (GRCh38)
19:43030958 (GRCh37)
Canonical SPDI:: NC_000019.10:42526805:G:A
Gene:: CEACAM1 (Varview), LIPE-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000021/3 (GnomAD)
A=0.000026/7 (TOPMED)
HGVS:: NC_000019.10:g.42526806G>A, NC_000019.9:g.43030958G>A, NG_029051.2:g.6704C>T

Select item 148960874116.

rs1489608741 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 19:42511154 (GRCh38)
19:43015306 (GRCh37)
Canonical SPDI:: NC_000019.10:42511153:TT:T
Gene:: CEACAM1 (Varview), LIPE-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.42511155del, NC_000019.9:g.43015307del, NG_029051.2:g.22356del

Select item 148958716817.

rs1489587168 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:42522048 (GRCh38)
19:43026200 (GRCh37)
Canonical SPDI:: NC_000019.10:42522047:C:T
Gene:: CEACAM1 (Varview), LIPE-AS1 (Varview), LOC105372407 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,synonymous_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.42522048C>T, NC_000019.9:g.43026200C>T, NG_029051.2:g.11462G>A, NM_001712.5:c.579G>A, NM_001712.4:c.579G>A, NM_001024912.3:c.579G>A, NM_001024912.2:c.579G>A, NM_001205344.2:c.579G>A, NM_001205344.1:c.579G>A, NM_001184815.2:c.579G>A, NM_001184815.1:c.579G>A, NM_001184813.2:c.579G>A, NM_001184813.1:c.579G>A, NM_001184816.2:c.579G>A, NM_001184816.1:c.579G>A, XM_011527206.3:c.579G>A, XM_011527206.2:c.579G>A, XM_011527206.1:c.579G>A

Select item 148932231418.

rs1489322314 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:42507145 (GRCh38)
19:43011297 (GRCh37)
Canonical SPDI:: NC_000019.10:42507144:C:A,NC_000019.10:42507144:C:T
Gene:: CEACAM1 (Varview), LIPE-AS1 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000042/11 (TOPMED)
T=0.001027/3 (KOREAN)
HGVS:: NC_000019.10:g.42507145C>A, NC_000019.10:g.42507145C>T, NC_000019.9:g.43011297C>A, NC_000019.9:g.43011297C>T, NG_029051.2:g.26365G>T, NG_029051.2:g.26365G>A

Select item 148922518119.

rs1489225181 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:42511109 (GRCh38)
19:43015261 (GRCh37)
Canonical SPDI:: NC_000019.10:42511108:G:C
Gene:: CEACAM1 (Varview), LIPE-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.42511109G>C, NC_000019.9:g.43015261G>C, NG_029051.2:g.22401C>G

Select item 148911414320.

rs1489114143 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:42510601 (GRCh38)
19:43014753 (GRCh37)
Canonical SPDI:: NC_000019.10:42510600:C:G
Gene:: CEACAM1 (Varview), LIPE-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,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.42510601C>G, NC_000019.9:g.43014753C>G, NG_029051.2:g.22909G>C

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