SNP Links for Gene (Select 54072) - SNP

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Select item 14915395281.

rs1491539528 has merged into rs3084150 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA [Show Flanks]
Chromosome:: 21:25420168 (GRCh38)
21:26792480 (GRCh37)
Canonical SPDI:: NC_000021.9:25420158:AAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000021.9:25420158:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000021.9:25420158:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000021.9:25420158:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000021.9:25420158:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000021.9:25420158:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000021.9:25420158:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA
Gene:: LINC00158 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
-=0.4525/2266 (1000Genomes)
HGVS:: NC_000021.9:g.25420168_25420174del, NC_000021.9:g.25420170_25420174del, NC_000021.9:g.25420171_25420174del, NC_000021.9:g.25420172_25420174del, NC_000021.9:g.25420173_25420174del, NC_000021.9:g.25420174del, NC_000021.9:g.25420174dup, NC_000021.8:g.26792480_26792486del, NC_000021.8:g.26792482_26792486del, NC_000021.8:g.26792483_26792486del, NC_000021.8:g.26792484_26792486del, NC_000021.8:g.26792485_26792486del, NC_000021.8:g.26792486del, NC_000021.8:g.26792486dup

Select item 14913280812.

rs1491328081 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 21:25417843 (GRCh38)
21:26790155 (GRCh37)
Canonical SPDI:: NC_000021.9:25417842:CA:
Gene:: LINC00158 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.003288/39 (ALFA)
-=0.004603/505 (GnomAD)
HGVS:: NC_000021.9:g.25417843_25417844del, NC_000021.8:g.26790155_26790156del

Select item 14913112393.

rs1491311239 has merged into rs763087793 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 21:25417857 (GRCh38)
21:26790169 (GRCh37)
Canonical SPDI:: NC_000021.9:25417843:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000021.9:25417843:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000021.9:25417843:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000021.9:25417843:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000021.9:25417843:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000021.9:25417843:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000021.9:25417843:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: LINC00158 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00448/2 (NorthernSweden)
-=0.25/10 (GENOME_DK)
HGVS:: NC_000021.9:g.25417857_25417859del, NC_000021.9:g.25417858_25417859del, NC_000021.9:g.25417859del, NC_000021.9:g.25417859dup, NC_000021.9:g.25417858_25417859dup, NC_000021.9:g.25417857_25417859dup, NC_000021.9:g.25417859_25417860insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.8:g.26790169_26790171del, NC_000021.8:g.26790170_26790171del, NC_000021.8:g.26790171del, NC_000021.8:g.26790171dup, NC_000021.8:g.26790170_26790171dup, NC_000021.8:g.26790169_26790171dup, NC_000021.8:g.26790171_26790172insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14912333704.

rs1491233370 has merged into rs5843150 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA [Show Flanks]
Chromosome:: 21:25427336 (GRCh38)
21:26799648 (GRCh37)
Canonical SPDI:: NC_000021.9:25427327:AAAAAAAAAAA:AAAAAAAA,NC_000021.9:25427327:AAAAAAAAAAA:AAAAAAAAA,NC_000021.9:25427327:AAAAAAAAAAA:AAAAAAAAAA,NC_000021.9:25427327:AAAAAAAAAAA:AAAAAAAAAAAA,NC_000021.9:25427327:AAAAAAAAAAA:AAAAAAAAAAAAA
Gene:: LINC00158 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
-=0.03029/124 (1000Genomes)
HGVS:: NC_000021.9:g.25427336_25427338del, NC_000021.9:g.25427337_25427338del, NC_000021.9:g.25427338del, NC_000021.9:g.25427338dup, NC_000021.9:g.25427337_25427338dup, NC_000021.8:g.26799648_26799650del, NC_000021.8:g.26799649_26799650del, NC_000021.8:g.26799650del, NC_000021.8:g.26799650dup, NC_000021.8:g.26799649_26799650dup

Select item 14911467785.

rs1491146778 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 21:25420158 (GRCh38)
21:26792470 (GRCh37)
Canonical SPDI:: NC_000021.9:25420157:CA:
Gene:: LINC00158 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00447/53 (ALFA)
-=0.00074/32 (GnomAD)
HGVS:: NC_000021.9:g.25420158_25420159del, NC_000021.8:g.26792470_26792471del

Select item 14910762786.

rs1491076278 has merged into rs202027652 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA [Show Flanks]
Chromosome:: 21:25432988 (GRCh38)
21:26805300 (GRCh37)
Canonical SPDI:: NC_000021.9:25432979:AAAAAAAAAA:AAAAAAAA,NC_000021.9:25432979:AAAAAAAAAA:AAAAAAAAA,NC_000021.9:25432979:AAAAAAAAAA:AAAAAAAAAAA,NC_000021.9:25432979:AAAAAAAAAA:AAAAAAAAAAAA
Gene:: LINC00158 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
A=0.00179/8 (Estonian)
A=0.005/3 (NorthernSweden)
A=0.00501/5 (GoNL)
A=0.04967/91 (Korea1K)
HGVS:: NC_000021.9:g.25432988_25432989del, NC_000021.9:g.25432989del, NC_000021.9:g.25432989dup, NC_000021.9:g.25432988_25432989dup, NC_000021.8:g.26805300_26805301del, NC_000021.8:g.26805301del, NC_000021.8:g.26805301dup, NC_000021.8:g.26805300_26805301dup

Select item 14909707477.

rs1490970747 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 21:25394236 (GRCh38)
21:26766548 (GRCh37)
Canonical SPDI:: NC_000021.9:25394235:G:T
Gene:: LINC00158 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.00787/23 (KOREAN)
HGVS:: NC_000021.9:g.25394236G>T, NC_000021.8:g.26766548G>T

Select item 14909009728.

rs1490900972 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 21:25431516 (GRCh38)
21:26803828 (GRCh37)
Canonical SPDI:: NC_000021.9:25431515:C:G,NC_000021.9:25431515:C:T
Gene:: LINC00158 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00003/8 (TOPMED)
T=0.000036/5 (GnomAD)
HGVS:: NC_000021.9:g.25431516C>G, NC_000021.9:g.25431516C>T, NC_000021.8:g.26803828C>G, NC_000021.8:g.26803828C>T, NR_024027.2:n.186G>C, NR_024027.2:n.186G>A, NM_058184.1:c.-201G>C, NM_058184.1:c.-201G>A

Select item 14908959289.

rs1490895928 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:25418587 (GRCh38)
21:26790899 (GRCh37)
Canonical SPDI:: NC_000021.9:25418586:A:G
Gene:: LINC00158 (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_000021.9:g.25418587A>G, NC_000021.8:g.26790899A>G

Select item 149083149810.

rs1490831498 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 21:25413106 (GRCh38)
21:26785418 (GRCh37)
Canonical SPDI:: NC_000021.9:25413105:C:A
Gene:: LINC00158 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.25413106C>A, NC_000021.8:g.26785418C>A

Select item 149070923311.

rs1490709233 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 21:25393243 (GRCh38)
21:26765555 (GRCh37)
Canonical SPDI:: NC_000021.9:25393242:G:T
Gene:: LINC00158 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000021.9:g.25393243G>T, NC_000021.8:g.26765555G>T

Select item 149064175212.

rs1490641752 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:25427017 (GRCh38)
21:26799329 (GRCh37)
Canonical SPDI:: NC_000021.9:25427016:G:A
Gene:: LINC00158 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000021.9:g.25427017G>A, NC_000021.8:g.26799329G>A

Select item 149058060313.

rs1490580603 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 21:25393887 (GRCh38)
21:26766199 (GRCh37)
Canonical SPDI:: NC_000021.9:25393886:T:A
Gene:: LINC00158 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000021.9:g.25393887T>A, NC_000021.8:g.26766199T>A

Select item 149047993014.

rs1490479930 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 21:25392890 (GRCh38)
21:26765202 (GRCh37)
Canonical SPDI:: NC_000021.9:25392889:G:T
Gene:: LINC00158 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000023/6 (TOPMED)
HGVS:: NC_000021.9:g.25392890G>T, NC_000021.8:g.26765202G>T

Select item 149047472915.

rs1490474729 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 21:25400761 (GRCh38)
21:26773073 (GRCh37)
Canonical SPDI:: NC_000021.9:25400760:A:G,NC_000021.9:25400760:A:T
Gene:: LINC00158 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
G=0.000035/1 (TOMMO)
HGVS:: NC_000021.9:g.25400761A>G, NC_000021.9:g.25400761A>T, NC_000021.8:g.26773073A>G, NC_000021.8:g.26773073A>T

Select item 149038667816.

rs1490386678 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 21:25428047 (GRCh38)
21:26800359 (GRCh37)
Canonical SPDI:: NC_000021.9:25428046:T:G
Gene:: LINC00158 (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_000021.9:g.25428047T>G, NC_000021.8:g.26800359T>G

Select item 149030245317.

rs1490302453 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 21:25409189 (GRCh38)
21:26781501 (GRCh37)
Canonical SPDI:: NC_000021.9:25409188:A:G,NC_000021.9:25409188:A:T
Gene:: LINC00158 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
G=0.001092/2 (Korea1K)
HGVS:: NC_000021.9:g.25409189A>G, NC_000021.9:g.25409189A>T, NC_000021.8:g.26781501A>G, NC_000021.8:g.26781501A>T

Select item 149001134918.

rs1490011349 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:25388654 (GRCh38)
21:26760966 (GRCh37)
Canonical SPDI:: NC_000021.9:25388653:A:G
Gene:: LINC00158 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.25388654A>G, NC_000021.8:g.26760966A>G

Select item 148991455819.

rs1489914558 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 21:25417530 (GRCh38)
21:26789842 (GRCh37)
Canonical SPDI:: NC_000021.9:25417529:C:A,NC_000021.9:25417529:C:T
Gene:: LINC00158 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00003/8 (TOPMED)
T=0.00005/7 (GnomAD)
A=0.000342/1 (KOREAN)
HGVS:: NC_000021.9:g.25417530C>A, NC_000021.9:g.25417530C>T, NC_000021.8:g.26789842C>A, NC_000021.8:g.26789842C>T

Select item 148988654320.

rs1489886543 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 21:25431539 (GRCh38)
21:26803851 (GRCh37)
Canonical SPDI:: NC_000021.9:25431538:C:
Gene:: LINC00158 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000021.9:g.25431539del, NC_000021.8:g.26803851del, NR_024027.2:n.163del, NM_058184.1:c.-224del