SNP Links for Gene (Select 101929390) - SNP

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Select item 14914374561.

rs1491437456 has merged into rs35444757 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:6368324 (GRCh38)
2:6508456 (GRCh37)
Canonical SPDI:: NC_000002.12:6368317:AAAAAAAAAAAAAAAAA:AAAAAA,NC_000002.12:6368317:AAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000002.12:6368317:AAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:6368317:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:6368317:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:6368317:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:6368317:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:6368317:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:6368317:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:6368317:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:6368317:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:6368317:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:6368317:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:6368317:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:6368317:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:6368317:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:6368317:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:6368317:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:6368317:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:6368317:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: LINC01247 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
-=0.2187/843 (ALSPAC)
HGVS:: NC_000002.12:g.6368324_6368334del, NC_000002.12:g.6368327_6368334del, NC_000002.12:g.6368328_6368334del, NC_000002.12:g.6368330_6368334del, NC_000002.12:g.6368331_6368334del, NC_000002.12:g.6368332_6368334del, NC_000002.12:g.6368333_6368334del, NC_000002.12:g.6368334del, NC_000002.12:g.6368334dup, NC_000002.12:g.6368333_6368334dup, NC_000002.12:g.6368331_6368334dup, NC_000002.12:g.6368330_6368334dup, NC_000002.12:g.6368329_6368334dup, NC_000002.12:g.6368325_6368334dup, NC_000002.12:g.6368324_6368334dup, NC_000002.12:g.6368323_6368334dup, NC_000002.12:g.6368322_6368334dup, NC_000002.12:g.6368320_6368334dup, NC_000002.12:g.6368319_6368334dup, NC_000002.12:g.6368318_6368334dup, NC_000002.11:g.6508456_6508466del, NC_000002.11:g.6508459_6508466del, NC_000002.11:g.6508460_6508466del, NC_000002.11:g.6508462_6508466del, NC_000002.11:g.6508463_6508466del, NC_000002.11:g.6508464_6508466del, NC_000002.11:g.6508465_6508466del, NC_000002.11:g.6508466del, NC_000002.11:g.6508466dup, NC_000002.11:g.6508465_6508466dup, NC_000002.11:g.6508463_6508466dup, NC_000002.11:g.6508462_6508466dup, NC_000002.11:g.6508461_6508466dup, NC_000002.11:g.6508457_6508466dup, NC_000002.11:g.6508456_6508466dup, NC_000002.11:g.6508455_6508466dup, NC_000002.11:g.6508454_6508466dup, NC_000002.11:g.6508452_6508466dup, NC_000002.11:g.6508451_6508466dup, NC_000002.11:g.6508450_6508466dup

Select item 14910908522.

rs1491090852 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:6368317 (GRCh38)
2:6508449 (GRCh37)
Canonical SPDI:: NC_000002.12:6368316:CA:
Gene:: LINC01247 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00169/20 (ALFA)
HGVS:: NC_000002.12:g.6368317_6368318del, NC_000002.11:g.6508449_6508450del

Select item 14907514233.

rs1490751423 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:6372118 (GRCh38)
2:6512250 (GRCh37)
Canonical SPDI:: NC_000002.12:6372117:G:A
Gene:: LINC01247 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.6372118G>A, NC_000002.11:g.6512250G>A, NR_110251.1:n.3305C>T

Select item 14907322424.

rs1490732242 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:6369799 (GRCh38)
2:6509931 (GRCh37)
Canonical SPDI:: NC_000002.12:6369798:T:C
Gene:: LINC01247 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.6369799T>C, NC_000002.11:g.6509931T>C

Select item 14907004715.

rs1490700471 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:6373097 (GRCh38)
2:6513229 (GRCh37)
Canonical SPDI:: NC_000002.12:6373096:G:C
Gene:: LINC01247 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.6373097G>C, NC_000002.11:g.6513229G>C, NR_110251.1:n.2326C>G

Select item 14905732336.

rs1490573233 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TA [Show Flanks]
Chromosome:: 2:6372519 (GRCh38)
2:6512652 (GRCh37)
Canonical SPDI:: NC_000002.12:6372519:ATA:ATATA
Gene:: LINC01247 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATA=0./0 (ALFA)
AT=0.000029/4 (GnomAD)
AT=0.00003/8 (TOPMED)
HGVS:: NC_000002.12:g.6372521_6372522dup, NC_000002.11:g.6512653_6512654dup, NR_110251.1:n.2902_2903dup

Select item 14905379087.

rs1490537908 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:6373510 (GRCh38)
2:6513642 (GRCh37)
Canonical SPDI:: NC_000002.12:6373509:A:G
Gene:: LINC01247 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000002.12:g.6373510A>G, NC_000002.11:g.6513642A>G, NR_110251.1:n.1913T>C

Select item 14902403228.

rs1490240322 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:6370682 (GRCh38)
2:6510814 (GRCh37)
Canonical SPDI:: NC_000002.12:6370681:A:G
Gene:: LINC01247 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.6370682A>G, NC_000002.11:g.6510814A>G

Select item 14901707709.

rs1490170770 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 2:6366812 (GRCh38)
2:6506944 (GRCh37)
Canonical SPDI:: NC_000002.12:6366811:GGG:GG
Gene:: LINC01247 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.6366814del, NC_000002.11:g.6506946del

Select item 148972530910.

rs1489725309 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:6366124 (GRCh38)
2:6506256 (GRCh37)
Canonical SPDI:: NC_000002.12:6366123:G:T
Gene:: LINC01247 (Varview)
Functional Consequence:: non_coding_transcript_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_000002.12:g.6366124G>T, NC_000002.11:g.6506256G>T, NR_110251.1:n.4095C>A

Select item 148965748011.

rs1489657480 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:6367273 (GRCh38)
2:6507405 (GRCh37)
Canonical SPDI:: NC_000002.12:6367272:A:T
Gene:: LINC01247 (Varview)
Functional Consequence:: intron_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_000002.12:g.6367273A>T, NC_000002.11:g.6507405A>T

Select item 148959883612.

rs1489598836 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:6374859 (GRCh38)
2:6514991 (GRCh37)
Canonical SPDI:: NC_000002.12:6374858:G:T
Gene:: LINC01247 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.6374859G>T, NC_000002.11:g.6514991G>T, NR_110251.1:n.564C>A

Select item 148950280613.

rs1489502806 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:6377266 (GRCh38)
2:6517398 (GRCh37)
Canonical SPDI:: NC_000002.12:6377265:T:C
Gene:: LINC01247 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.6377266T>C, NC_000002.11:g.6517398T>C

Select item 148937720514.

rs1489377205 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:6367393 (GRCh38)
2:6507525 (GRCh37)
Canonical SPDI:: NC_000002.12:6367392:A:C
Gene:: LINC01247 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.6367393A>C, NC_000002.11:g.6507525A>C

Select item 148927650315.

rs1489276503 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:6375255 (GRCh38)
2:6515387 (GRCh37)
Canonical SPDI:: NC_000002.12:6375254:C:T
Gene:: LINC01247 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.6375255C>T, NC_000002.11:g.6515387C>T, NR_110251.1:n.168G>A

Select item 148908465016.

rs1489084650 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:6373029 (GRCh38)
2:6513161 (GRCh37)
Canonical SPDI:: NC_000002.12:6373028:G:A
Gene:: LINC01247 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.6373029G>A, NC_000002.11:g.6513161G>A, NR_110251.1:n.2394C>T

Select item 148864140717.

rs1488641407 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:6368180 (GRCh38)
2:6508312 (GRCh37)
Canonical SPDI:: NC_000002.12:6368179:C:A
Gene:: LINC01247 (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_000002.12:g.6368180C>A, NC_000002.11:g.6508312C>A

Select item 148857655918.

rs1488576559 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:6367674 (GRCh38)
2:6507806 (GRCh37)
Canonical SPDI:: NC_000002.12:6367673:C:T
Gene:: LINC01247 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.6367674C>T, NC_000002.11:g.6507806C>T

Select item 148787077719.

rs1487870777 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:6367225 (GRCh38)
2:6507357 (GRCh37)
Canonical SPDI:: NC_000002.12:6367224:G:C
Gene:: LINC01247 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.6367225G>C, NC_000002.11:g.6507357G>C

Select item 148771394620.

rs1487713946 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 2:6374759 (GRCh38)
2:6514891 (GRCh37)
Canonical SPDI:: NC_000002.12:6374758:T:A,NC_000002.12:6374758:T:C
Gene:: LINC01247 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.6374759T>A, NC_000002.12:g.6374759T>C, NC_000002.11:g.6514891T>A, NC_000002.11:g.6514891T>C, NR_110251.1:n.664A>T, NR_110251.1:n.664A>G

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