SNP Links for Gene (Select 400804) - SNP

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Select item 14914851461.

rs1491485146 has merged into rs140041123 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 1:221335343 (GRCh38)
1:221508685 (GRCh37)
Canonical SPDI:: NC_000001.11:221335332:GTGTGTGTGTGTGTGTGTGT:GTGTGTGTGT,NC_000001.11:221335332:GTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGT,NC_000001.11:221335332:GTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGT,NC_000001.11:221335332:GTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGT,NC_000001.11:221335332:GTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGT,NC_000001.11:221335332:GTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:221335332:GTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:221335332:GTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:221335332:GTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:221335332:GTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: LINC02817 (Varview), LOC105372932 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGT=0./0 (ALFA)
HGVS:: NC_000001.11:g.221335333GT[5], NC_000001.11:g.221335333GT[6], NC_000001.11:g.221335333GT[7], NC_000001.11:g.221335333GT[8], NC_000001.11:g.221335333GT[9], NC_000001.11:g.221335333GT[11], NC_000001.11:g.221335333GT[12], NC_000001.11:g.221335333GT[13], NC_000001.11:g.221335333GT[14], NC_000001.11:g.221335333GT[15], NC_000001.10:g.221508675GT[5], NC_000001.10:g.221508675GT[6], NC_000001.10:g.221508675GT[7], NC_000001.10:g.221508675GT[8], NC_000001.10:g.221508675GT[9], NC_000001.10:g.221508675GT[11], NC_000001.10:g.221508675GT[12], NC_000001.10:g.221508675GT[13], NC_000001.10:g.221508675GT[14], NC_000001.10:g.221508675GT[15], NG_082343.1:g.8GT[5], NG_082343.1:g.8GT[6], NG_082343.1:g.8GT[7], NG_082343.1:g.8GT[8], NG_082343.1:g.8GT[9], NG_082343.1:g.8GT[11], NG_082343.1:g.8GT[12], NG_082343.1:g.8GT[13], NG_082343.1:g.8GT[14], NG_082343.1:g.8GT[15]

Select item 14911029912.

rs1491102991 has merged into rs751340928 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AT,T [Show Flanks]
Chromosome:: 1:221335333 (GRCh38)
1:221508676 (GRCh37)
Canonical SPDI:: NC_000001.11:221335333:T:TAT,NC_000001.11:221335333:T:TT
Gene:: LINC02817 (Varview), LOC105372932 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.00009/3 (GnomAD)
AT=0.22195/823 (TWINSUK)
TA=0.23015/887 (ALSPAC)
HGVS:: NC_000001.11:g.221335334_221335335insAT, NC_000001.11:g.221335334dup, NC_000001.10:g.221508676_221508677insAT, NC_000001.10:g.221508676dup, NG_082343.1:g.9_10insAT, NG_082343.1:g.9dup

Select item 14906153703.

rs1490615370 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:221334596 (GRCh38)
1:221507938 (GRCh37)
Canonical SPDI:: NC_000001.11:221334595:A:G
Gene:: LINC02817 (Varview), LOC105372932 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.221334596A>G, NC_000001.10:g.221507938A>G

Select item 14905321334.

rs1490532133 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 1:221336127 (GRCh38)
1:221509469 (GRCh37)
Canonical SPDI:: NC_000001.11:221336126:T:A,NC_000001.11:221336126:T:G
Gene:: LINC02817 (Varview), LOC105372932 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0./0 (GnomAD)
HGVS:: NC_000001.11:g.221336127T>A, NC_000001.11:g.221336127T>G, NC_000001.10:g.221509469T>A, NC_000001.10:g.221509469T>G, NG_082343.1:g.802T>A, NG_082343.1:g.802T>G, NM_001010913.2:c.-40A>T, NM_001010913.2:c.-40A>C, NR_024236.1:n.170A>T, NR_024236.1:n.170A>C, NM_001010913.1:c.-40A>T, NM_001010913.1:c.-40A>C

Select item 14903322215.

rs1490332221 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:221334002 (GRCh38)
1:221507344 (GRCh37)
Canonical SPDI:: NC_000001.11:221334001:G:C
Gene:: LINC02817 (Varview), LOC105372932 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0./0 (Korea1K)
C=0.000011/3 (TOPMED)
C=0.00002/2 (GnomAD_exomes)
C=0.000106/2 (TOMMO)
C=0.001027/3 (KOREAN)
HGVS:: NC_000001.11:g.221334002G>C, NC_000001.10:g.221507344G>C

Select item 14901207666.

rs1490120766 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:221335063 (GRCh38)
1:221508405 (GRCh37)
Canonical SPDI:: NC_000001.11:221335062:A:C
Gene:: LINC02817 (Varview), LOC105372932 (Varview)
Functional Consequence:: intron_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_000001.11:g.221335063A>C, NC_000001.10:g.221508405A>C

Select item 14895413727.

rs1489541372 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:221336953 (GRCh38)
1:221510295 (GRCh37)
Canonical SPDI:: NC_000001.11:221336952:A:T
Gene:: LINC02817 (Varview), LOC105372932 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.221336953A>T, NC_000001.10:g.221510295A>T

Select item 14892361448.

rs1489236144 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:221333986 (GRCh38)
1:221507328 (GRCh37)
Canonical SPDI:: NC_000001.11:221333985:C:T
Gene:: LINC02817 (Varview), LOC105372932 (Varview)
Functional Consequence:: splice_acceptor_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.221333986C>T, NC_000001.10:g.221507328C>T

Select item 14891124439.

rs1489112443 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:221333032 (GRCh38)
1:221506374 (GRCh37)
Canonical SPDI:: NC_000001.11:221333031:A:G
Gene:: LINC02817 (Varview), LOC105372932 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000023/6 (TOPMED)
HGVS:: NC_000001.11:g.221333032A>G, NC_000001.10:g.221506374A>G, NM_001010913.2:c.*804T>C, NR_024236.1:n.1388T>C, NM_001010913.1:c.*804T>C

Select item 148909906110.

rs1489099061 [Homo sapiens]

Variant type:: DEL
Alleles:: TTGCAAATAAA>- [Show Flanks]
Chromosome:: 1:221331891 (GRCh38)
1:221505233 (GRCh37)
Canonical SPDI:: NC_000001.11:221331890:TTGCAAATAAA:
Gene:: LINC02817 (Varview), LOC105372932 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.221331891_221331901del, NC_000001.10:g.221505233_221505243del, NM_001010913.2:c.*1935_*1945del, NR_024236.1:n.2519_2529del, NM_001010913.1:c.*1935_*1945del

Select item 148804232411.

rs1488042324 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:221331069 (GRCh38)
1:221504411 (GRCh37)
Canonical SPDI:: NC_000001.11:221331068:C:T
Gene:: LINC02817 (Varview), LOC105372932 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000142/2 (ALFA)
T=0.000023/6 (TOPMED)
T=0.000043/6 (GnomAD)
HGVS:: NC_000001.11:g.221331069C>T, NC_000001.10:g.221504411C>T, NM_001010913.2:c.*2767G>A, NR_024236.1:n.3351G>A, NM_001010913.1:c.*2767G>A

Select item 148797673312.

rs1487976733 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTT>- [Show Flanks]
Chromosome:: 1:221334034 (GRCh38)
1:221507376 (GRCh37)
Canonical SPDI:: NC_000001.11:221334031:TTGTT:TT
Gene:: LINC02817 (Varview), LOC105372932 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.221334034_221334036del, NC_000001.10:g.221507376_221507378del

Select item 148788620713.

rs1487886207 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:221332858 (GRCh38)
1:221506200 (GRCh37)
Canonical SPDI:: NC_000001.11:221332857:C:T
Gene:: LINC02817 (Varview), LOC105372932 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.221332858C>T, NC_000001.10:g.221506200C>T, NM_001010913.2:c.*978G>A, NR_024236.1:n.1562G>A, NM_001010913.1:c.*978G>A

Select item 148719334214.

rs1487193342 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:221335172 (GRCh38)
1:221508514 (GRCh37)
Canonical SPDI:: NC_000001.11:221335171:C:T
Gene:: LINC02817 (Varview), LOC105372932 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.221335172C>T, NC_000001.10:g.221508514C>T

Select item 148676377615.

rs1486763776 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 1:221330480 (GRCh38)
1:221503822 (GRCh37)
Canonical SPDI:: NC_000001.11:221330479:AAA:AA
Gene:: LINC02817 (Varview), LOC105372932 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.221330482del, NC_000001.10:g.221503824del, NM_001010913.2:c.*3356del, NR_024236.1:n.3940del, NM_001010913.1:c.*3356del

Select item 148667061716.

rs1486670617 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:221329453 (GRCh38)
1:221502795 (GRCh37)
Canonical SPDI:: NC_000001.11:221329452:C:T
Gene:: LINC02817 (Varview), LOC105372932 (Varview)
Functional Consequence:: 500B_downstream_variant,intron_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.221329453C>T, NC_000001.10:g.221502795C>T

Select item 148619341917.

rs1486193419 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 1:221330217 (GRCh38)
1:221503559 (GRCh37)
Canonical SPDI:: NC_000001.11:221330216:A:C,NC_000001.11:221330216:A:G
Gene:: LINC02817 (Varview), LOC105372932 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.221330217A>C, NC_000001.11:g.221330217A>G, NC_000001.10:g.221503559A>C, NC_000001.10:g.221503559A>G, NM_001010913.2:c.*3619T>G, NM_001010913.2:c.*3619T>C, NR_024236.1:n.4203T>G, NR_024236.1:n.4203T>C, NM_001010913.1:c.*3619T>G, NM_001010913.1:c.*3619T>C

Select item 148583211518.

rs1485832115 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 1:221330873 (GRCh38)
1:221504215 (GRCh37)
Canonical SPDI:: NC_000001.11:221330872:A:G,NC_000001.11:221330872:A:T
Gene:: LINC02817 (Varview), LOC105372932 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.221330873A>G, NC_000001.11:g.221330873A>T, NC_000001.10:g.221504215A>G, NC_000001.10:g.221504215A>T, NM_001010913.2:c.*2963T>C, NM_001010913.2:c.*2963T>A, NR_024236.1:n.3547T>C, NR_024236.1:n.3547T>A, NM_001010913.1:c.*2963T>C, NM_001010913.1:c.*2963T>A

Select item 148568662319.

rs1485686623 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 1:221329916 (GRCh38)
1:221503258 (GRCh37)
Canonical SPDI:: NC_000001.11:221329915:T:C,NC_000001.11:221329915:T:G
Gene:: LINC02817 (Varview), LOC105372932 (Varview)
Functional Consequence:: 500B_downstream_variant,intron_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000001.11:g.221329916T>C, NC_000001.11:g.221329916T>G, NC_000001.10:g.221503258T>C, NC_000001.10:g.221503258T>G

Select item 148555387320.

rs1485553873 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 1:221336313 (GRCh38)
1:221509655 (GRCh37)
Canonical SPDI:: NC_000001.11:221336312:A:G,NC_000001.11:221336312:A:T
Gene:: LINC02817 (Varview), LOC105372932 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000066/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000001.11:g.221336313A>G, NC_000001.11:g.221336313A>T, NC_000001.10:g.221509655A>G, NC_000001.10:g.221509655A>T, NG_082343.1:g.988A>G, NG_082343.1:g.988A>T

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