SNP Links for Gene (Select 440270) - SNP

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Select item 14915866941.

rs1491586694 [Homo sapiens]

Variant type:: DEL
Alleles:: CG>- [Show Flanks]
Chromosome:: 15:34584748 (GRCh38)
15:34876949 (GRCh37)
Canonical SPDI:: NC_000015.10:34584747:CG:
Gene:: GOLGA8B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
-=0.00039/1 (GnomAD)
HGVS:: NC_000015.10:g.34584748_34584749del, NC_000015.9:g.34876949_34876950del

Select item 14914821132.

rs1491482113 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CT [Show Flanks]
Chromosome:: 15:34574304 (GRCh38)
15:34866506 (GRCh37)
Canonical SPDI:: NC_000015.10:34574304:T:TCT
Gene:: GOLGA8B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TCT=0./0 (ALFA)
HGVS:: NC_000015.10:g.34574305_34574306insCT, NC_000015.9:g.34866506_34866507insCT

Select item 14914807903.

rs1491480790 has merged into rs112808701 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 15:34574316 (GRCh38)
15:34866517 (GRCh37)
Canonical SPDI:: NC_000015.10:34574303:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000015.10:34574303:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000015.10:34574303:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000015.10:34574303:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000015.10:34574303:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000015.10:34574303:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000015.10:34574303:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: GOLGA8B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.3243/1624 (1000Genomes)
HGVS:: NC_000015.10:g.34574316_34574319del, NC_000015.10:g.34574317_34574319del, NC_000015.10:g.34574318_34574319del, NC_000015.10:g.34574319del, NC_000015.10:g.34574319dup, NC_000015.10:g.34574318_34574319dup, NC_000015.10:g.34574308_34574319dup, NC_000015.9:g.34866517_34866520del, NC_000015.9:g.34866518_34866520del, NC_000015.9:g.34866519_34866520del, NC_000015.9:g.34866520del, NC_000015.9:g.34866520dup, NC_000015.9:g.34866519_34866520dup, NC_000015.9:g.34866509_34866520dup

Select item 14914640814.

rs1491464081 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AGGGG [Show Flanks]
Chromosome:: 15:34584749 (GRCh38)
15:34876951 (GRCh37)
Canonical SPDI:: NC_000015.10:34584749:GGGG:GGGGAGGGG
Gene:: GOLGA8B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGAGGGG=0.13927/1652 (ALFA)
GGGGA=0.04792/596 (TOMMO)
GGGGA=0.37183/8523 (GnomAD)
HGVS:: NC_000015.10:g.34584750_34584753G[4]AGGGG[1], NC_000015.9:g.34876951_34876954G[4]AGGGG[1]

Select item 14914278445.

rs1491427844 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->ACCCACCACATCACATACTCA
Chromosome:: no mapping
Canonical SPDI:

Select item 14913576856.

rs1491357685 has merged into rs112808701 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 15:34574316 (GRCh38)
15:34866517 (GRCh37)
Canonical SPDI:: NC_000015.10:34574303:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000015.10:34574303:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000015.10:34574303:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000015.10:34574303:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000015.10:34574303:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000015.10:34574303:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000015.10:34574303:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: GOLGA8B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.3243/1624 (1000Genomes)
HGVS:: NC_000015.10:g.34574316_34574319del, NC_000015.10:g.34574317_34574319del, NC_000015.10:g.34574318_34574319del, NC_000015.10:g.34574319del, NC_000015.10:g.34574319dup, NC_000015.10:g.34574318_34574319dup, NC_000015.10:g.34574308_34574319dup, NC_000015.9:g.34866517_34866520del, NC_000015.9:g.34866518_34866520del, NC_000015.9:g.34866519_34866520del, NC_000015.9:g.34866520del, NC_000015.9:g.34866520dup, NC_000015.9:g.34866519_34866520dup, NC_000015.9:g.34866509_34866520dup

Select item 14912929117.

rs1491292911 [Homo sapiens]

Variant type:: INS
Alleles:: ->AT,CACACACACT,CACACACT,CACACT,CACT,CT,T [Show Flanks]
Chromosome:: 15:34577560 (GRCh38)
15:34869762 (GRCh37)
Canonical SPDI:: NC_000015.10:34577560::AT,NC_000015.10:34577560::CACACACACT,NC_000015.10:34577560::CACACACT,NC_000015.10:34577560::CACACT,NC_000015.10:34577560::CACT,NC_000015.10:34577560::CT,NC_000015.10:34577560::T
Gene:: GOLGA8B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACACT=0./0 (ALFA)
HGVS:: NC_000015.10:g.34577560_34577561insAT, NC_000015.10:g.34577560_34577561insCACACACACT, NC_000015.10:g.34577560_34577561insCACACACT, NC_000015.10:g.34577560_34577561insCACACT, NC_000015.10:g.34577560_34577561insCACT, NC_000015.10:g.34577560_34577561insCT, NC_000015.10:g.34577560_34577561insT, NC_000015.9:g.34869761_34869762insAT, NC_000015.9:g.34869761_34869762insCACACACACT, NC_000015.9:g.34869761_34869762insCACACACT, NC_000015.9:g.34869761_34869762insCACACT, NC_000015.9:g.34869761_34869762insCACT, NC_000015.9:g.34869761_34869762insCT, NC_000015.9:g.34869761_34869762insT

Select item 14912332128.

rs1491233212 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AGGGGG,AGGGGGG,AGGGGGGG,AGGGGGGGG,AGGGGGGGGG,AGGGGGGGGGGGGG,AGGGGGGGGGGGGGGG,AGGGGGGGGGGGGGGGGG,AGGGGGGGGGGGGGGGGGGGGGG [Show Flanks]
Chromosome:: 15:34584748 (GRCh38)
15:34876950 (GRCh37)
Canonical SPDI:: NC_000015.10:34584748:GGGGG:GGGGGAGGGGG,NC_000015.10:34584748:GGGGG:GGGGGAGGGGGG,NC_000015.10:34584748:GGGGG:GGGGGAGGGGGGG,NC_000015.10:34584748:GGGGG:GGGGGAGGGGGGGG,NC_000015.10:34584748:GGGGG:GGGGGAGGGGGGGGG,NC_000015.10:34584748:GGGGG:GGGGGAGGGGGGGGGGGGG,NC_000015.10:34584748:GGGGG:GGGGGAGGGGGGGGGGGGGGG,NC_000015.10:34584748:GGGGG:GGGGGAGGGGGGGGGGGGGGGGG,NC_000015.10:34584748:GGGGG:GGGGGAGGGGGGGGGGGGGGGGGGGGGG
Gene:: GOLGA8B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGAGGGGGG=0./0 (ALFA)
HGVS:: NC_000015.10:g.34584749_34584753G[5]AGGGGG[1], NC_000015.10:g.34584749_34584753G[5]AGGGGGG[1], NC_000015.10:g.34584749_34584753G[5]AGGGGGGG[1], NC_000015.10:g.34584749_34584753G[5]AGGGGGGGG[1], NC_000015.10:g.34584749_34584753G[5]AGGGGGGGGG[1], NC_000015.10:g.34584749_34584753G[5]AGGGGGGGGGGGGG[1], NC_000015.10:g.34584749_34584753G[5]AGGGGGGGGGGGGGGG[1], NC_000015.10:g.34584749_34584753G[5]AGGGGGGGGGGGGGGGGG[1], NC_000015.10:g.34584749_34584753G[5]AGGGGGGGGGGGGGGGGGGGGGG[1], NC_000015.9:g.34876950_34876954G[5]AGGGGG[1], NC_000015.9:g.34876950_34876954G[5]AGGGGGG[1], NC_000015.9:g.34876950_34876954G[5]AGGGGGGG[1], NC_000015.9:g.34876950_34876954G[5]AGGGGGGGG[1], NC_000015.9:g.34876950_34876954G[5]AGGGGGGGGG[1], NC_000015.9:g.34876950_34876954G[5]AGGGGGGGGGGGGG[1], NC_000015.9:g.34876950_34876954G[5]AGGGGGGGGGGGGGGG[1], NC_000015.9:g.34876950_34876954G[5]AGGGGGGGGGGGGGGGGG[1], NC_000015.9:g.34876950_34876954G[5]AGGGGGGGGGGGGGGGGGGGGGG[1]

Select item 14912142939.

rs1491214293 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 15:34524935 (GRCh38)
15:34817136 (GRCh37)
Canonical SPDI:: NC_000015.10:34524934:AG:
Gene:: GOLGA8B (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000008/1 (GnomAD)
HGVS:: NC_000015.10:g.34524935_34524936del, NC_000015.9:g.34817136_34817137del

Select item 149119896410.

rs1491198964 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 15:34524935 (GRCh38)
15:34817137 (GRCh37)
Canonical SPDI:: NC_000015.10:34524935:GGGG:GGGGG
Gene:: GOLGA8B (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: GGGGG=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.34524939dup, NC_000015.9:g.34817140dup

Select item 149114256411.

rs1491142564 has merged into rs1420795516 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>-,GAGA [Show Flanks]
Chromosome:: 15:34577561 (GRCh38)
15:34869762 (GRCh37)
Canonical SPDI:: NC_000015.10:34577559:AGA:A,NC_000015.10:34577559:AGA:AGAGA
Gene:: GOLGA8B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AGAGA=0./0 (ALFA)
-=0.000054/6 (GnomAD)
HGVS:: NC_000015.10:g.34577561_34577562del, NC_000015.10:g.34577561_34577562dup, NC_000015.9:g.34869762_34869763del, NC_000015.9:g.34869762_34869763dup

Select item 149113430912.

rs1491134309 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 15:34557644 (GRCh38)
15:34849845 (GRCh37)
Canonical SPDI:: NC_000015.10:34557643:AT:
Gene:: GOLGA8B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00004/1 (TOMMO)
-=0.00018/5 (GnomAD)
-=0.00417/2 (NorthernSweden)
HGVS:: NC_000015.10:g.34557644_34557645del, NC_000015.9:g.34849845_34849846del

Select item 149112857913.

rs1491128579 [Homo sapiens]

Variant type:: SNV:
Alleles:: GT>-
Chromosome:: no mapping
Canonical SPDI:

Select item 149099202914.

rs1490992029 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCACCCC>- [Show Flanks]
Chromosome:: 15:34528148 (GRCh38)
15:34820349 (GRCh37)
Canonical SPDI:: NC_000015.10:34528144:CCCCCACCCC:CCC
Gene:: GOLGA8B (Varview), MIR1233-2 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCC=0.00008/1 (ALFA)
HGVS:: NC_000015.10:g.34528148_34528154del, NC_000015.9:g.34820349_34820355del

Select item 149097642915.

rs1490976429 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTATAAA>- [Show Flanks]
Chromosome:: 15:34527496 (GRCh38)
15:34819697 (GRCh37)
Canonical SPDI:: NC_000015.10:34527491:TAAACTATAAA:TAAA
Gene:: GOLGA8B (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: TAAA=0./0 (ALFA)
HGVS:: NC_000015.10:g.34527496_34527502del, NC_000015.9:g.34819697_34819703del, NM_001023567.5:c.*134_*140del, NM_001023567.4:c.*134_*140del, NR_027410.2:n.4384_4390del, NR_027410.1:n.4303_4309del

Select item 149095434816.

rs1490954348 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:34556361 (GRCh38)
15:34848562 (GRCh37)
Canonical SPDI:: NC_000015.10:34556360:G:A
Gene:: GOLGA8B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000018/2 (GnomAD)
A=0.000312/2 (1000Genomes)
HGVS:: NC_000015.10:g.34556361G>A, NC_000015.9:g.34848562G>A, NG_025376.2:g.686G>A

Select item 149083586617.

rs1490835866 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:34562780 (GRCh38)
15:34854981 (GRCh37)
Canonical SPDI:: NC_000015.10:34562779:C:T
Gene:: GOLGA8B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.00002/1 (GnomAD)
HGVS:: NC_000015.10:g.34562780C>T, NC_000015.9:g.34854981C>T

Select item 149083334018.

rs1490833340 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ACGCGTCGGGGTCCCC [Show Flanks]
Chromosome:: 15:34583428 (GRCh38)
15:34875630 (GRCh37)
Canonical SPDI:: NC_000015.10:34583428:CCCCACGCGTCGGGGTCCCC:CCCCACGCGTCGGGGTCCCCACGCGTCGGGGTCCCC
Gene:: GOLGA8B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCACGCGTCGGGGTCCCCACGCGTCGGGGTCCCC=0.000169/2 (ALFA)
CCCCACGCGTCGGGGT=0.000068/18 (TOPMED)
CCCCACGCGTCGGGGT=0.000079/11 (GnomAD)
HGVS:: NC_000015.10:g.34583433_34583448dup, NC_000015.9:g.34875634_34875649dup

Select item 149081076219.

rs1490810762 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:34563492 (GRCh38)
15:34855693 (GRCh37)
Canonical SPDI:: NC_000015.10:34563491:A:G
Gene:: GOLGA8B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.34563492A>G, NC_000015.9:g.34855693A>G

Select item 149078744420.

rs1490787444 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:34574707 (GRCh38)
15:34866908 (GRCh37)
Canonical SPDI:: NC_000015.10:34574706:C:T
Gene:: GOLGA8B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000015.10:g.34574707C>T, NC_000015.9:g.34866908C>T

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