SNP Links for Gene (Select 11166) - SNP

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Select item 14897855721.

rs1489785572 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:94713684 (GRCh38)
13:95365938 (GRCh37)
Canonical SPDI:: NC_000013.11:94713683:T:C
Gene:: SOX21 (Varview), SOX21-AS1 (Varview), LOC112268114 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000023/6 (TOPMED)
C=0.000071/2 (TOMMO)
HGVS:: NC_000013.11:g.94713684T>C, NC_000013.10:g.95365938T>C, NR_046514.1:n.725T>C

Select item 14895660092.

rs1489566009 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:94713791 (GRCh38)
13:95366045 (GRCh37)
Canonical SPDI:: NC_000013.11:94713790:G:A
Gene:: SOX21 (Varview), SOX21-AS1 (Varview), LOC112268114 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,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_000013.11:g.94713791G>A, NC_000013.10:g.95366045G>A, NR_046514.1:n.832G>A

Select item 14892835443.

rs1489283544 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 13:94710698 (GRCh38)
13:95362952 (GRCh37)
Canonical SPDI:: NC_000013.11:94710697:T:A
Gene:: SOX21 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000026/7 (TOPMED)
HGVS:: NC_000013.11:g.94710698T>A, NC_000013.10:g.95362952T>A, NM_007084.4:c.*521A>T, NM_007084.3:c.*521A>T, NM_007084.2:c.*521A>T

Select item 14892420804.

rs1489242080 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 13:94711038 (GRCh38)
13:95363292 (GRCh37)
Canonical SPDI:: NC_000013.11:94711037:C:G
Gene:: SOX21 (Varview), SOX21-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
HGVS:: NC_000013.11:g.94711038C>G, NC_000013.10:g.95363292C>G, NM_007084.4:c.*181G>C, NM_007084.3:c.*181G>C, NM_007084.2:c.*181G>C

Select item 14892000315.

rs1489200031 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:94713026 (GRCh38)
13:95365280 (GRCh37)
Canonical SPDI:: NC_000013.11:94713025:G:A
Gene:: SOX21 (Varview), SOX21-AS1 (Varview), LOC112268114 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000066/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000013.11:g.94713026G>A, NC_000013.10:g.95365280G>A, NR_046514.1:n.311G>A, NR_158368.1:n.273C>T

Select item 14891897126.

rs1489189712 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:94711482 (GRCh38)
13:95363736 (GRCh37)
Canonical SPDI:: NC_000013.11:94711481:G:A
Gene:: SOX21 (Varview), SOX21-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,missense_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_000013.11:g.94711482G>A, NC_000013.10:g.95363736G>A, NM_007084.4:c.568C>T, NM_007084.3:c.568C>T, NM_007084.2:c.568C>T, NP_009015.1:p.Pro190Ser

Select item 14891312317.

rs1489131231 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 13:94709382 (GRCh38)
13:95361636 (GRCh37)
Canonical SPDI:: NC_000013.11:94709381:G:T
Gene:: SOX21 (Varview), LINC00391 (Varview)
Functional Consequence:: 500B_downstream_variant,2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.0025/11 (ALFA)
T=0.002/9 (Estonian)
HGVS:: NC_000013.11:g.94709382G>T, NC_000013.10:g.95361636G>T

Select item 14890554388.

rs1489055438 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 13:94711675 (GRCh38)
13:95363929 (GRCh37)
Canonical SPDI:: NC_000013.11:94711674:C:G,NC_000013.11:94711674:C:T
Gene:: SOX21 (Varview), SOX21-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,synonymous_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000013.11:g.94711675C>G, NC_000013.11:g.94711675C>T, NC_000013.10:g.95363929C>G, NC_000013.10:g.95363929C>T, NM_007084.4:c.375G>C, NM_007084.4:c.375G>A, NM_007084.3:c.375G>C, NM_007084.3:c.375G>A, NM_007084.2:c.375G>C, NM_007084.2:c.375G>A

Select item 14889359139.

rs1488935913 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:94710058 (GRCh38)
13:95362312 (GRCh37)
Canonical SPDI:: NC_000013.11:94710057:A:G
Gene:: SOX21 (Varview), LINC00391 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_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_000013.11:g.94710058A>G, NC_000013.10:g.95362312A>G, NM_007084.4:c.*1161T>C, NM_007084.3:c.*1161T>C, NM_007084.2:c.*1161T>C

Select item 148838401610.

rs1488384016 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 13:94711017 (GRCh38)
13:95363271 (GRCh37)
Canonical SPDI:: NC_000013.11:94711016:A:C,NC_000013.11:94711016:A:G,NC_000013.11:94711016:A:T
Gene:: SOX21 (Varview), SOX21-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000013.11:g.94711017A>C, NC_000013.11:g.94711017A>G, NC_000013.11:g.94711017A>T, NC_000013.10:g.95363271A>C, NC_000013.10:g.95363271A>G, NC_000013.10:g.95363271A>T, NM_007084.4:c.*202T>G, NM_007084.4:c.*202T>C, NM_007084.4:c.*202T>A, NM_007084.3:c.*202T>G, NM_007084.3:c.*202T>C, NM_007084.3:c.*202T>A, NM_007084.2:c.*202T>G, NM_007084.2:c.*202T>C, NM_007084.2:c.*202T>A

Select item 148795632811.

rs1487956328 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 13:94714270 (GRCh38)
13:95366524 (GRCh37)
Canonical SPDI:: NC_000013.11:94714269:G:T
Gene:: SOX21 (Varview), SOX21-AS1 (Varview), LOC112268114 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000013.11:g.94714270G>T, NC_000013.10:g.95366524G>T, NR_046514.1:n.1311G>T

Select item 148773267612.

rs1487732676 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 13:94712827 (GRCh38)
13:95365081 (GRCh37)
Canonical SPDI:: NC_000013.11:94712826:C:G
Gene:: SOX21 (Varview), SOX21-AS1 (Varview), LOC112268114 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.94712827C>G, NC_000013.10:g.95365081C>G, NR_046514.1:n.112C>G, NR_158368.1:n.472G>C

Select item 148773155713.

rs1487731557 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ACACGTGTGCACACCGGT [Show Flanks]
Chromosome:: 13:94711175 (GRCh38)
13:95363430 (GRCh37)
Canonical SPDI:: NC_000013.11:94711175:GTACACGTGTGCACACCGGT:GTACACGTGTGCACACCGGTACACGTGTGCACACCGGT
Gene:: SOX21 (Varview), SOX21-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTACACGTGTGCACACCGGTACACGTGTGCACACCGGT=0./0 (ALFA)
GTACACGTGTGCACACCG=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.94711178_94711195dup, NC_000013.10:g.95363432_95363449dup, NM_007084.4:c.*26_*43dup, NM_007084.3:c.*26_*43dup, NM_007084.2:c.*26_*43dup

Select item 148711490714.

rs1487114907 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:94712538 (GRCh38)
13:95364792 (GRCh37)
Canonical SPDI:: NC_000013.11:94712537:G:A
Gene:: SOX21 (Varview), SOX21-AS1 (Varview), LOC112268114 (Varview)
Functional Consequence:: downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.94712538G>A, NC_000013.10:g.95364792G>A, NM_007084.4:c.-489C>T, NM_007084.3:c.-489C>T

Select item 148692674815.

rs1486926748 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 13:94710347 (GRCh38)
13:95362601 (GRCh37)
Canonical SPDI:: NC_000013.11:94710346:C:G
Gene:: SOX21 (Varview), LINC00391 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.94710347C>G, NC_000013.10:g.95362601C>G, NM_007084.4:c.*872G>C, NM_007084.3:c.*872G>C, NM_007084.2:c.*872G>C

Select item 148646190016.

rs1486461900 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 13:94709325 (GRCh38)
13:95361579 (GRCh37)
Canonical SPDI:: NC_000013.11:94709324:T:A
Gene:: SOX21 (Varview), LINC00391 (Varview)
Functional Consequence:: 500B_downstream_variant,2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000013.11:g.94709325T>A, NC_000013.10:g.95361579T>A

Select item 148590151317.

rs1485901513 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 13:94713601 (GRCh38)
13:95365855 (GRCh37)
Canonical SPDI:: NC_000013.11:94713600:A:C
Gene:: SOX21 (Varview), SOX21-AS1 (Varview), LOC112268114 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00089/4 (ALFA)
C=0.00028/8 (TOMMO)
C=0.00125/8 (1000Genomes)
C=0.00273/5 (Korea1K)
C=0.02719/79 (KOREAN)
HGVS:: NC_000013.11:g.94713601A>C, NC_000013.10:g.95365855A>C

Select item 148573042618.

rs1485730426 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GG [Show Flanks]
Chromosome:: 13:94710790 (GRCh38)
13:95363044 (GRCh37)
Canonical SPDI:: NC_000013.11:94710789:GGGGGG:GGGGG,NC_000013.11:94710789:GGGGGG:GGGGGGG
Gene:: SOX21 (Varview), SOX21-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGG=0.00006/1 (ALFA)
-=0.00023/1 (Estonian)
-=0.00047/3 (1000Genomes)
-=0.00503/68 (GnomAD)
HGVS:: NC_000013.11:g.94710795del, NC_000013.11:g.94710795dup, NC_000013.10:g.95363049del, NC_000013.10:g.95363049dup, NM_007084.4:c.*429del, NM_007084.4:c.*429dup, NM_007084.3:c.*429del, NM_007084.3:c.*429dup, NM_007084.2:c.*429del, NM_007084.2:c.*429dup

Select item 148518765119.

rs1485187651 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 13:94714133 (GRCh38)
13:95366387 (GRCh37)
Canonical SPDI:: NC_000013.11:94714132:T:G
Gene:: SOX21 (Varview), SOX21-AS1 (Varview), LOC112268114 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.94714133T>G, NC_000013.10:g.95366387T>G, NR_046514.1:n.1174T>G

Select item 148507811320.

rs1485078113 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:94709718 (GRCh38)
13:95361972 (GRCh37)
Canonical SPDI:: NC_000013.11:94709717:C:T
Gene:: SOX21 (Varview), LINC00391 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_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)
T=0.000035/1 (TOMMO)
HGVS:: NC_000013.11:g.94709718C>T, NC_000013.10:g.95361972C>T, NM_007084.4:c.*1501G>A, NM_007084.3:c.*1501G>A, NM_007084.2:c.*1501G>A

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