SNP Links for Gene (Select 641516) - SNP

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Items: 1 to 20 of 9299

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Select item 14914975221.

rs1491497522 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,TTTTTT [Show Flanks]
Chromosome:: 18:41521822 (GRCh38)
18:39101786 (GRCh37)
Canonical SPDI:: NC_000018.10:41521819:TTTT:TT,NC_000018.10:41521819:TTTT:TTTTTTTT
Gene:: KC6 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
-=0.000201/23 (GnomAD)
-=0.000319/5 (TOMMO)
HGVS:: NC_000018.10:g.41521822_41521823del, NC_000018.10:g.41521820_41521823dup, NC_000018.9:g.39101786_39101787del, NC_000018.9:g.39101784_39101787dup

Select item 14914176772.

rs1491417677 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTGT,GTGTGTGT,GTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 18:41521820 (GRCh38)
18:39101785 (GRCh37)
Canonical SPDI:: NC_000018.10:41521820:T:TGTGT,NC_000018.10:41521820:T:TGTGTGTGT,NC_000018.10:41521820:T:TGTGTGTGTGTGTGTGTGT
Gene:: KC6 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGT=0./0 (ALFA)
HGVS:: NC_000018.10:g.41521821_41521822insGTGT, NC_000018.10:g.41521822GT[4], NC_000018.10:g.41521822GT[9], NC_000018.9:g.39101785_39101786insGTGT, NC_000018.9:g.39101786GT[4], NC_000018.9:g.39101786GT[9]

Select item 14914159963.

rs1491415996 has merged into rs71174054 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTGTTGTTGTTG>-,TTG,TTGTTG,TTGTTGTTG,TTGTTGTTGTTGTTG,TTGTTGTTGTTGTTGTTG,TTGTTGTTGTTGTTGTTGTTG,TTGTTGTTGTTGTTGTTGTTGTTG,TTGTTGTTGTTGTTGTTGTTGTTGTTG [Show Flanks]
Chromosome:: 18:41485369 (GRCh38)
18:39065333 (GRCh37)
Canonical SPDI:: NC_000018.10:41485349:GTTGTTGTTGTTGTTGTTGTTGTTGTTGTTG:GTTGTTGTTGTTGTTGTTG,NC_000018.10:41485349:GTTGTTGTTGTTGTTGTTGTTGTTGTTGTTG:GTTGTTGTTGTTGTTGTTGTTG,NC_000018.10:41485349:GTTGTTGTTGTTGTTGTTGTTGTTGTTGTTG:GTTGTTGTTGTTGTTGTTGTTGTTG,NC_000018.10:41485349:GTTGTTGTTGTTGTTGTTGTTGTTGTTGTTG:GTTGTTGTTGTTGTTGTTGTTGTTGTTG,NC_000018.10:41485349:GTTGTTGTTGTTGTTGTTGTTGTTGTTGTTG:GTTGTTGTTGTTGTTGTTGTTGTTGTTGTTGTTG,NC_000018.10:41485349:GTTGTTGTTGTTGTTGTTGTTGTTGTTGTTG:GTTGTTGTTGTTGTTGTTGTTGTTGTTGTTGTTGTTG,NC_000018.10:41485349:GTTGTTGTTGTTGTTGTTGTTGTTGTTGTTG:GTTGTTGTTGTTGTTGTTGTTGTTGTTGTTGTTGTTGTTG,NC_000018.10:41485349:GTTGTTGTTGTTGTTGTTGTTGTTGTTGTTG:GTTGTTGTTGTTGTTGTTGTTGTTGTTGTTGTTGTTGTTGTTG,NC_000018.10:41485349:GTTGTTGTTGTTGTTGTTGTTGTTGTTGTTG:GTTGTTGTTGTTGTTGTTGTTGTTGTTGTTGTTGTTGTTGTTGTTG
Gene:: KC6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTTGTTGTTGTTGTTGTTGTTGTTG=0./0 (ALFA)
GTTGTTGTT=0.000457/121 (TOPMED)
HGVS:: NC_000018.10:g.41485351TTG[6], NC_000018.10:g.41485351TTG[7], NC_000018.10:g.41485351TTG[8], NC_000018.10:g.41485351TTG[9], NC_000018.10:g.41485351TTG[11], NC_000018.10:g.41485351TTG[12], NC_000018.10:g.41485351TTG[13], NC_000018.10:g.41485351TTG[14], NC_000018.10:g.41485351TTG[15], NC_000018.9:g.39065315TTG[6], NC_000018.9:g.39065315TTG[7], NC_000018.9:g.39065315TTG[8], NC_000018.9:g.39065315TTG[9], NC_000018.9:g.39065315TTG[11], NC_000018.9:g.39065315TTG[12], NC_000018.9:g.39065315TTG[13], NC_000018.9:g.39065315TTG[14], NC_000018.9:g.39065315TTG[15]

Select item 14913473554.

rs1491347355 has merged into rs141791734 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACACA>-,CACA,CACACA,CACACACACA,CACACACACACA,CACACACACACACA [Show Flanks]
Chromosome:: 18:41514446 (GRCh38)
18:39094410 (GRCh37)
Canonical SPDI:: NC_000018.10:41514432:ACACACACACACACACACACA:ACACACACACACA,NC_000018.10:41514432:ACACACACACACACACACACA:ACACACACACACACACA,NC_000018.10:41514432:ACACACACACACACACACACA:ACACACACACACACACACA,NC_000018.10:41514432:ACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000018.10:41514432:ACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000018.10:41514432:ACACACACACACACACACACA:ACACACACACACACACACACACACACA
Gene:: KC6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACACACA=0./0 (ALFA)
AC=0.10748/23 (Vietnamese)
AC=0.1889/946 (1000Genomes)
AC=0.23333/140 (NorthernSweden)
HGVS:: NC_000018.10:g.41514434CA[6], NC_000018.10:g.41514434CA[8], NC_000018.10:g.41514434CA[9], NC_000018.10:g.41514434CA[11], NC_000018.10:g.41514434CA[12], NC_000018.10:g.41514434CA[13], NC_000018.9:g.39094398CA[6], NC_000018.9:g.39094398CA[8], NC_000018.9:g.39094398CA[9], NC_000018.9:g.39094398CA[11], NC_000018.9:g.39094398CA[12], NC_000018.9:g.39094398CA[13]

Select item 14913298515.

rs1491329851 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTT [Show Flanks]
Chromosome:: 18:41496181 (GRCh38)
18:39076146 (GRCh37)
Canonical SPDI:: NC_000018.10:41496181:TT:TTCTT
Gene:: KC6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTCTT=0./0 (ALFA)
HGVS:: NC_000018.10:g.41496183_41496184insCTT, NC_000018.9:g.39076147_39076148insCTT

Select item 14912813136.

rs1491281313 has merged into rs36000991 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 18:41496195 (GRCh38)
18:39076159 (GRCh37)
Canonical SPDI:: NC_000018.10:41496180:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000018.10:41496180:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000018.10:41496180:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000018.10:41496180:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000018.10:41496180:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000018.10:41496180:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000018.10:41496180:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000018.10:41496180:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:41496180:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: KC6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000018.10:g.41496195_41496196del, NC_000018.10:g.41496196del, NC_000018.10:g.41496196dup, NC_000018.10:g.41496195_41496196dup, NC_000018.10:g.41496194_41496196dup, NC_000018.10:g.41496193_41496196dup, NC_000018.10:g.41496192_41496196dup, NC_000018.10:g.41496187_41496196dup, NC_000018.10:g.41496185_41496196dup, NC_000018.9:g.39076159_39076160del, NC_000018.9:g.39076160del, NC_000018.9:g.39076160dup, NC_000018.9:g.39076159_39076160dup, NC_000018.9:g.39076158_39076160dup, NC_000018.9:g.39076157_39076160dup, NC_000018.9:g.39076156_39076160dup, NC_000018.9:g.39076151_39076160dup, NC_000018.9:g.39076149_39076160dup

Select item 14909514267.

rs1490951426 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:41498637 (GRCh38)
18:39078601 (GRCh37)
Canonical SPDI:: NC_000018.10:41498636:C:T
Gene:: KC6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
T=0.00003/8 (TOPMED)
HGVS:: NC_000018.10:g.41498637C>T, NC_000018.9:g.39078601C>T

Select item 14909390278.

rs1490939027 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 18:41484059 (GRCh38)
18:39064023 (GRCh37)
Canonical SPDI:: NC_000018.10:41484058:C:A
Gene:: KC6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
HGVS:: NC_000018.10:g.41484059C>A, NC_000018.9:g.39064023C>A

Select item 14907190709.

rs1490719070 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:41513791 (GRCh38)
18:39093755 (GRCh37)
Canonical SPDI:: NC_000018.10:41513790:G:A
Gene:: KC6 (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_000018.10:g.41513791G>A, NC_000018.9:g.39093755G>A

Select item 149070917910.

rs1490709179 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:41514605 (GRCh38)
18:39094569 (GRCh37)
Canonical SPDI:: NC_000018.10:41514604:T:C
Gene:: KC6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000018.10:g.41514605T>C, NC_000018.9:g.39094569T>C

Select item 149056708411.

rs1490567084 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:41515552 (GRCh38)
18:39095516 (GRCh37)
Canonical SPDI:: NC_000018.10:41515551:T:C
Gene:: KC6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.41515552T>C, NC_000018.9:g.39095516T>C

Select item 149054222312.

rs1490542223 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:41514202 (GRCh38)
18:39094166 (GRCh37)
Canonical SPDI:: NC_000018.10:41514201:A:G
Gene:: KC6 (Varview)
Functional Consequence:: 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_000018.10:g.41514202A>G, NC_000018.9:g.39094166A>G

Select item 149030430813.

rs1490304308 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 18:41515132 (GRCh38)
18:39095096 (GRCh37)
Canonical SPDI:: NC_000018.10:41515131:G:A,NC_000018.10:41515131:G:C
Gene:: KC6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000054/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000018.10:g.41515132G>A, NC_000018.10:g.41515132G>C, NC_000018.9:g.39095096G>A, NC_000018.9:g.39095096G>C

Select item 149028177814.

rs1490281778 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:41481670 (GRCh38)
18:39061634 (GRCh37)
Canonical SPDI:: NC_000018.10:41481669:A:G
Gene:: KC6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.41481670A>G, NC_000018.9:g.39061634A>G

Select item 149023876615.

rs1490238766 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:41517725 (GRCh38)
18:39097689 (GRCh37)
Canonical SPDI:: NC_000018.10:41517724:G:A
Gene:: KC6 (Varview)
Functional Consequence:: intron_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_000018.10:g.41517725G>A, NC_000018.9:g.39097689G>A

Select item 149021964216.

rs1490219642 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:41515062 (GRCh38)
18:39095026 (GRCh37)
Canonical SPDI:: NC_000018.10:41515061:T:C
Gene:: KC6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000018.10:g.41515062T>C, NC_000018.9:g.39095026T>C

Select item 149020491317.

rs1490204913 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 18:41500128 (GRCh38)
18:39080092 (GRCh37)
Canonical SPDI:: NC_000018.10:41500127:A:T
Gene:: KC6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000018.10:g.41500128A>T, NC_000018.9:g.39080092A>T

Select item 149017208318.

rs1490172083 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:41507501 (GRCh38)
18:39087465 (GRCh37)
Canonical SPDI:: NC_000018.10:41507500:A:G
Gene:: KC6 (Varview), LOC105372083 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000023/6 (TOPMED)
HGVS:: NC_000018.10:g.41507501A>G, NC_000018.9:g.39087465A>G, XR_001753428.2:n.1009A>G, XR_001753428.1:n.1243A>G

Select item 149016386919.

rs1490163869 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 18:41492742 (GRCh38)
18:39072706 (GRCh37)
Canonical SPDI:: NC_000018.10:41492739:CTCT:CT
Gene:: KC6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000242/1 (GnomAD)
HGVS:: NC_000018.10:g.41492740CT[1], NC_000018.9:g.39072704CT[1]

Select item 148994557920.

rs1489945579 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:41508214 (GRCh38)
18:39088178 (GRCh37)
Canonical SPDI:: NC_000018.10:41508213:T:C
Gene:: KC6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000018.10:g.41508214T>C, NC_000018.9:g.39088178T>C

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