SNP Links for Gene (Select 254312) - SNP

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Select item 14915748301.

rs1491574830 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 10:10943777 (GRCh38)
10:10985740 (GRCh37)
Canonical SPDI:: NC_000010.11:10943775:TGT:T
Gene:: CELF2 (Varview), LINC00710 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: -=0.000057/8 (GnomAD)
-=0.014738/27 (Korea1K)
HGVS:: NC_000010.11:g.10943777_10943778del, NC_000010.10:g.10985740_10985741del

Select item 14915460182.

rs1491546018 has merged into rs3029016 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA [Show Flanks]
Chromosome:: 10:10942006 (GRCh38)
10:10983969 (GRCh37)
Canonical SPDI:: NC_000010.11:10941991:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:10941991:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000010.11:10941991:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000010.11:10941991:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000010.11:10941991:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000010.11:10941991:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000010.11:10941991:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000010.11:10941991:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
Gene:: CELF2 (Varview), LINC00710 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.4036/2021 (1000Genomes)
HGVS:: NC_000010.11:g.10942006_10942011del, NC_000010.11:g.10942007_10942011del, NC_000010.11:g.10942008_10942011del, NC_000010.11:g.10942009_10942011del, NC_000010.11:g.10942010_10942011del, NC_000010.11:g.10942011del, NC_000010.11:g.10942011dup, NC_000010.11:g.10942010_10942011dup, NC_000010.10:g.10983969_10983974del, NC_000010.10:g.10983970_10983974del, NC_000010.10:g.10983971_10983974del, NC_000010.10:g.10983972_10983974del, NC_000010.10:g.10983973_10983974del, NC_000010.10:g.10983974del, NC_000010.10:g.10983974dup, NC_000010.10:g.10983973_10983974dup

Select item 14914523453.

rs1491452345 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 10:10949826 (GRCh38)
10:10991789 (GRCh37)
Canonical SPDI:: NC_000010.11:10949825:CA:
Gene:: CELF2 (Varview), LINC00710 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000010.11:g.10949826_10949827del, NC_000010.10:g.10991789_10991790del

Select item 14912849674.

rs1491284967 has merged into rs35952853 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 10:10949838 (GRCh38)
10:10991801 (GRCh37)
Canonical SPDI:: NC_000010.11:10949826:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000010.11:10949826:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000010.11:10949826:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:10949826:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000010.11:10949826:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000010.11:10949826:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000010.11:10949826:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000010.11:10949826:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000010.11:10949826:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000010.11:10949826:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000010.11:10949826:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:10949826:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:10949826:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:10949826:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:10949826:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:10949826:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:10949826:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:10949826:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:10949826:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:10949826:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:10949826:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CELF2 (Varview), LINC00710 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
-=0.3984/1995 (1000Genomes)
HGVS:: NC_000010.11:g.10949838_10949848del, NC_000010.11:g.10949840_10949848del, NC_000010.11:g.10949841_10949848del, NC_000010.11:g.10949842_10949848del, NC_000010.11:g.10949843_10949848del, NC_000010.11:g.10949844_10949848del, NC_000010.11:g.10949845_10949848del, NC_000010.11:g.10949846_10949848del, NC_000010.11:g.10949847_10949848del, NC_000010.11:g.10949848del, NC_000010.11:g.10949848dup, NC_000010.11:g.10949847_10949848dup, NC_000010.11:g.10949846_10949848dup, NC_000010.11:g.10949845_10949848dup, NC_000010.11:g.10949844_10949848dup, NC_000010.11:g.10949843_10949848dup, NC_000010.11:g.10949842_10949848dup, NC_000010.11:g.10949839_10949848dup, NC_000010.11:g.10949838_10949848dup, NC_000010.11:g.10949848_10949849insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.11:g.10949848_10949849insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.10991801_10991811del, NC_000010.10:g.10991803_10991811del, NC_000010.10:g.10991804_10991811del, NC_000010.10:g.10991805_10991811del, NC_000010.10:g.10991806_10991811del, NC_000010.10:g.10991807_10991811del, NC_000010.10:g.10991808_10991811del, NC_000010.10:g.10991809_10991811del, NC_000010.10:g.10991810_10991811del, NC_000010.10:g.10991811del, NC_000010.10:g.10991811dup, NC_000010.10:g.10991810_10991811dup, NC_000010.10:g.10991809_10991811dup, NC_000010.10:g.10991808_10991811dup, NC_000010.10:g.10991807_10991811dup, NC_000010.10:g.10991806_10991811dup, NC_000010.10:g.10991805_10991811dup, NC_000010.10:g.10991802_10991811dup, NC_000010.10:g.10991801_10991811dup, NC_000010.10:g.10991811_10991812insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.10991811_10991812insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14912352525.

rs1491235252 [Homo sapiens]

Variant type:: DEL
Alleles:: GG>- [Show Flanks]
Chromosome:: 10:10939276 (GRCh38)
10:10981239 (GRCh37)
Canonical SPDI:: NC_000010.11:10939275:GG:
Gene:: CELF2 (Varview), LINC00710 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: -=0.00033/35 (GnomAD)
-=0.001451/21 (TOMMO)
-=0.007042/4 (NorthernSweden)
-=0.008588/55 (1000Genomes)
HGVS:: NC_000010.11:g.10939276_10939277del, NC_000010.10:g.10981239_10981240del

Select item 14911011296.

rs1491101129 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 10:10943772 (GRCh38)
10:10985735 (GRCh37)
Canonical SPDI:: NC_000010.11:10943770:TGT:T
Gene:: CELF2 (Varview), LINC00710 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.01408/167 (ALFA)
HGVS:: NC_000010.11:g.10943772_10943773del, NC_000010.10:g.10985735_10985736del

Select item 14909805937.

rs1490980593 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TA [Show Flanks]
Chromosome:: 10:10952363 (GRCh38)
10:10994327 (GRCh37)
Canonical SPDI:: NC_000010.11:10952363:A:ATA
Gene:: CELF2 (Varview), LINC00710 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: AT=0.000021/3 (GnomAD)
HGVS:: NC_000010.11:g.10952364_10952365insTA, NC_000010.10:g.10994327_10994328insTA

Select item 14909559578.

rs1490955957 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:10937286 (GRCh38)
10:10979249 (GRCh37)
Canonical SPDI:: NC_000010.11:10937285:C:T
Gene:: CELF2 (Varview), LINC00710 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000010.11:g.10937286C>T, NC_000010.10:g.10979249C>T

Select item 14908419889.

rs1490841988 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:10950282 (GRCh38)
10:10992245 (GRCh37)
Canonical SPDI:: NC_000010.11:10950281:T:C
Gene:: CELF2 (Varview), LINC00710 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.10950282T>C, NC_000010.10:g.10992245T>C

Select item 149075820710.

rs1490758207 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AG [Show Flanks]
Chromosome:: 10:10950880 (GRCh38)
10:10992844 (GRCh37)
Canonical SPDI:: NC_000010.11:10950880:GAG:GAGAG
Gene:: CELF2 (Varview), LINC00710 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GAGAG=0./0 (ALFA)
GA=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.10950882_10950883dup, NC_000010.10:g.10992845_10992846dup

Select item 149069120011.

rs1490691200 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 10:10949859 (GRCh38)
10:10991822 (GRCh37)
Canonical SPDI:: NC_000010.11:10949858:A:T
Gene:: CELF2 (Varview), LINC00710 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_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_000010.11:g.10949859A>T, NC_000010.10:g.10991822A>T

Select item 149068788912.

rs1490687889 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:10936147 (GRCh38)
10:10978110 (GRCh37)
Canonical SPDI:: NC_000010.11:10936146:G:C
Gene:: CELF2 (Varview), LINC00710 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.10936147G>C, NC_000010.10:g.10978110G>C

Select item 149052499513.

rs1490524995 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:10949560 (GRCh38)
10:10991523 (GRCh37)
Canonical SPDI:: NC_000010.11:10949559:G:A
Gene:: CELF2 (Varview), LINC00710 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000010.11:g.10949560G>A, NC_000010.10:g.10991523G>A

Select item 149038756314.

rs1490387563 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:10946221 (GRCh38)
10:10988184 (GRCh37)
Canonical SPDI:: NC_000010.11:10946220:A:G
Gene:: CELF2 (Varview), LINC00710 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: G=0.0076/14 (Korea1K)
HGVS:: NC_000010.11:g.10946221A>G, NC_000010.10:g.10988184A>G

Select item 149019998915.

rs1490199989 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:10950356 (GRCh38)
10:10992319 (GRCh37)
Canonical SPDI:: NC_000010.11:10950355:C:T
Gene:: CELF2 (Varview), LINC00710 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.10950356C>T, NC_000010.10:g.10992319C>T

Select item 149019943516.

rs1490199435 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:10936539 (GRCh38)
10:10978502 (GRCh37)
Canonical SPDI:: NC_000010.11:10936538:G:A
Gene:: CELF2 (Varview), LINC00710 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.10936539G>A, NC_000010.10:g.10978502G>A

Select item 149007447217.

rs1490074472 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 10:10947174 (GRCh38)
10:10989137 (GRCh37)
Canonical SPDI:: NC_000010.11:10947173:A:T
Gene:: CELF2 (Varview), LINC00710 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.10947174A>T, NC_000010.10:g.10989137A>T

Select item 148995185818.

rs1489951858 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 10:10935357 (GRCh38)
10:10977320 (GRCh37)
Canonical SPDI:: NC_000010.11:10935356:G:A,NC_000010.11:10935356:G:C,NC_000010.11:10935356:G:T
Gene:: CELF2 (Varview), LINC00710 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.00016/1 (1000Genomes)
T=0.00022/1 (Estonian)
HGVS:: NC_000010.11:g.10935357G>A, NC_000010.11:g.10935357G>C, NC_000010.11:g.10935357G>T, NC_000010.10:g.10977320G>A, NC_000010.10:g.10977320G>C, NC_000010.10:g.10977320G>T, NR_015413.1:n.695C>T, NR_015413.1:n.695C>G, NR_015413.1:n.695C>A, NR_024410.1:n.625C>T, NR_024410.1:n.625C>G, NR_024410.1:n.625C>A, NR_024411.1:n.514C>T, NR_024411.1:n.514C>G, NR_024411.1:n.514C>A

Select item 148991693319.

rs1489916933 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:10942915 (GRCh38)
10:10984878 (GRCh37)
Canonical SPDI:: NC_000010.11:10942914:G:A
Gene:: CELF2 (Varview), LINC00710 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.10942915G>A, NC_000010.10:g.10984878G>A

Select item 148976402920.

rs1489764029 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:10943775 (GRCh38)
10:10985738 (GRCh37)
Canonical SPDI:: NC_000010.11:10943774:T:C
Gene:: CELF2 (Varview), LINC00710 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000312/2 (1000Genomes)
T=0.5/1 (SGDP_PRJ)
HGVS:: NC_000010.11:g.10943775T>C, NC_000010.10:g.10985738T>C

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