SNP Links for Gene (Select 339298) - SNP

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Select item 14914973501.

rs1491497350 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 18:76125530 (GRCh38)
18:73837485 (GRCh37)
Canonical SPDI:: NC_000018.10:76125529:AT:
Gene:: LOC339298 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.011465/136 (ALFA)
-=0.000259/1 (ALSPAC)
-=0.00027/1 (TWINSUK)
-=0.01608/1716 (GnomAD)
-=0.017489/88 (1000Genomes)
HGVS:: NC_000018.10:g.76125530_76125531del, NC_000018.9:g.73837485_73837486del

Select item 14913844282.

rs1491384428 has merged into rs71840273 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 18:76125085 (GRCh38)
18:73837040 (GRCh37)
Canonical SPDI:: NC_000018.10:76125076:AAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000018.10:76125076:AAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000018.10:76125076:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000018.10:76125076:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000018.10:76125076:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000018.10:76125076:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000018.10:76125076:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000018.10:76125076:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000018.10:76125076:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000018.10:76125076:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000018.10:76125076:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000018.10:76125076:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000018.10:76125076:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: LOC339298 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
-=0.1832/706 (ALSPAC)
A=0.4986/2497 (1000Genomes)
HGVS:: NC_000018.10:g.76125085_76125093del, NC_000018.10:g.76125087_76125093del, NC_000018.10:g.76125088_76125093del, NC_000018.10:g.76125089_76125093del, NC_000018.10:g.76125090_76125093del, NC_000018.10:g.76125091_76125093del, NC_000018.10:g.76125092_76125093del, NC_000018.10:g.76125093del, NC_000018.10:g.76125093dup, NC_000018.10:g.76125092_76125093dup, NC_000018.10:g.76125091_76125093dup, NC_000018.10:g.76125090_76125093dup, NC_000018.10:g.76125084_76125093dup, NC_000018.9:g.73837040_73837048del, NC_000018.9:g.73837042_73837048del, NC_000018.9:g.73837043_73837048del, NC_000018.9:g.73837044_73837048del, NC_000018.9:g.73837045_73837048del, NC_000018.9:g.73837046_73837048del, NC_000018.9:g.73837047_73837048del, NC_000018.9:g.73837048del, NC_000018.9:g.73837048dup, NC_000018.9:g.73837047_73837048dup, NC_000018.9:g.73837046_73837048dup, NC_000018.9:g.73837045_73837048dup, NC_000018.9:g.73837039_73837048dup

Select item 14910348933.

rs1491034893 has merged into rs35946203 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 18:76125542 (GRCh38)
18:73837497 (GRCh37)
Canonical SPDI:: NC_000018.10:76125530:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000018.10:76125530:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000018.10:76125530:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000018.10:76125530:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000018.10:76125530:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000018.10:76125530:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000018.10:76125530:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: LOC339298 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
T=0.3684/1845 (1000Genomes)
T=0.475/19 (GENOME_DK)
HGVS:: NC_000018.10:g.76125542_76125544del, NC_000018.10:g.76125543_76125544del, NC_000018.10:g.76125544del, NC_000018.10:g.76125544dup, NC_000018.10:g.76125543_76125544dup, NC_000018.10:g.76125542_76125544dup, NC_000018.10:g.76125531_76125544dup, NC_000018.9:g.73837497_73837499del, NC_000018.9:g.73837498_73837499del, NC_000018.9:g.73837499del, NC_000018.9:g.73837499dup, NC_000018.9:g.73837498_73837499dup, NC_000018.9:g.73837497_73837499dup, NC_000018.9:g.73837486_73837499dup

Select item 14907521004.

rs1490752100 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:76133469 (GRCh38)
18:73845424 (GRCh37)
Canonical SPDI:: NC_000018.10:76133468:A:G
Gene:: LOC339298 (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.76133469A>G, NC_000018.9:g.73845424A>G

Select item 14907379195.

rs1490737919 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:76140349 (GRCh38)
18:73852304 (GRCh37)
Canonical SPDI:: NC_000018.10:76140348:T:C
Gene:: LOC339298 (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.76140349T>C, NC_000018.9:g.73852304T>C

Select item 14907366756.

rs1490736675 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:76132490 (GRCh38)
18:73844445 (GRCh37)
Canonical SPDI:: NC_000018.10:76132489:A:G
Gene:: LOC339298 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000018.10:g.76132490A>G, NC_000018.9:g.73844445A>G

Select item 14906827747.

rs1490682774 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:76138431 (GRCh38)
18:73850386 (GRCh37)
Canonical SPDI:: NC_000018.10:76138430:G:A
Gene:: LOC339298 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.0002/1 (ALFA)
A=0.0002/1 (Estonian)
HGVS:: NC_000018.10:g.76138431G>A, NC_000018.9:g.73850386G>A

Select item 14903644778.

rs1490364477 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:76126782 (GRCh38)
18:73838737 (GRCh37)
Canonical SPDI:: NC_000018.10:76126781:A:G
Gene:: LOC339298 (Varview)
Functional Consequence:: non_coding_transcript_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.76126782A>G, NC_000018.9:g.73838737A>G, NR_040034.1:n.1834A>G

Select item 14902382799.

rs1490238279 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:76132110 (GRCh38)
18:73844065 (GRCh37)
Canonical SPDI:: NC_000018.10:76132109:C:T
Gene:: LOC339298 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.00479/14 (KOREAN)
HGVS:: NC_000018.10:g.76132110C>T, NC_000018.9:g.73844065C>T

Select item 149012648010.

rs1490126480 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 18:76125017 (GRCh38)
18:73836972 (GRCh37)
Canonical SPDI:: NC_000018.10:76125016:C:G
Gene:: LOC339298 (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.76125017C>G, NC_000018.9:g.73836972C>G

Select item 149005769011.

rs1490057690 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:76140956 (GRCh38)
18:73852911 (GRCh37)
Canonical SPDI:: NC_000018.10:76140955:A:G
Gene:: LOC339298 (Varview)
Functional Consequence:: intron_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_000018.10:g.76140956A>G, NC_000018.9:g.73852911A>G

Select item 148986983312.

rs1489869833 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:76137243 (GRCh38)
18:73849198 (GRCh37)
Canonical SPDI:: NC_000018.10:76137242:G:A
Gene:: LOC339298 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000023/6 (TOPMED)
A=0.000057/8 (GnomAD)
HGVS:: NC_000018.10:g.76137243G>A, NC_000018.9:g.73849198G>A

Select item 148964667613.

rs1489646676 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:76134625 (GRCh38)
18:73846580 (GRCh37)
Canonical SPDI:: NC_000018.10:76134624:C:T
Gene:: LOC339298 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000018.10:g.76134625C>T, NC_000018.9:g.73846580C>T

Select item 148942689814.

rs1489426898 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:76131500 (GRCh38)
18:73843455 (GRCh37)
Canonical SPDI:: NC_000018.10:76131499:A:G
Gene:: LOC339298 (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.76131500A>G, NC_000018.9:g.73843455A>G

Select item 148940581315.

rs1489405813 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:76122121 (GRCh38)
18:73834076 (GRCh37)
Canonical SPDI:: NC_000018.10:76122120:C:T
Gene:: LOC339298 (Varview)
Functional Consequence:: 2KB_upstream_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_000018.10:g.76122121C>T, NC_000018.9:g.73834076C>T

Select item 148920700716.

rs1489207007 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:76126680 (GRCh38)
18:73838635 (GRCh37)
Canonical SPDI:: NC_000018.10:76126679:T:C
Gene:: LOC339298 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000018.10:g.76126680T>C, NC_000018.9:g.73838635T>C, NR_040034.1:n.1732T>C

Select item 148901745517.

rs1489017455 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:76142726 (GRCh38)
18:73854681 (GRCh37)
Canonical SPDI:: NC_000018.10:76142725:T:C
Gene:: LOC339298 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000018.10:g.76142726T>C, NC_000018.9:g.73854681T>C

Select item 148886703818.

rs1488867038 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 18:76127125 (GRCh38)
18:73839080 (GRCh37)
Canonical SPDI:: NC_000018.10:76127124:AA:A
Gene:: LOC339298 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.76127126del, NC_000018.9:g.73839081del

Select item 148874633419.

rs1488746334 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:76137024 (GRCh38)
18:73848979 (GRCh37)
Canonical SPDI:: NC_000018.10:76137023:C:T
Gene:: LOC339298 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000023/6 (TOPMED)
HGVS:: NC_000018.10:g.76137024C>T, NC_000018.9:g.73848979C>T

Select item 148869897920.

rs1488698979 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 18:76143267 (GRCh38)
18:73855223 (GRCh37)
Canonical SPDI:: NC_000018.10:76143267::C
Gene:: LOC339298 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000018.10:g.76143267_76143268insC, NC_000018.9:g.73855222_73855223insC

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