SNP Links for Gene (Select 100127983) - SNP

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Items: 1 to 20 of 5827

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Select item 14913833321.

rs1491383332 has merged into rs72355572 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,AA,AAA,AAAAA,AAAAAA [Show Flanks]
Chromosome:: 8:90972425 (GRCh38)
8:91984653 (GRCh37)
Canonical SPDI:: NC_000008.11:90972417:AAAAAAAAAAA:AAAAAAA,NC_000008.11:90972417:AAAAAAAAAAA:AAAAAAAAA,NC_000008.11:90972417:AAAAAAAAAAA:AAAAAAAAAA,NC_000008.11:90972417:AAAAAAAAAAA:AAAAAAAAAAAA,NC_000008.11:90972417:AAAAAAAAAAA:AAAAAAAAAAAAA
Gene:: C8orf88 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
-=0.05/2 (GENOME_DK)
-=0.056667/34 (NorthernSweden)
-=0.079917/308 (ALSPAC)
-=0.082524/306 (TWINSUK)
-=0.111222/111 (GoNL)
-=0.112819/565 (1000Genomes)
-=0.113571/30061 (TOPMED)
HGVS:: NC_000008.11:g.90972425_90972428del, NC_000008.11:g.90972427_90972428del, NC_000008.11:g.90972428del, NC_000008.11:g.90972428dup, NC_000008.11:g.90972427_90972428dup, NC_000008.10:g.91984653_91984656del, NC_000008.10:g.91984655_91984656del, NC_000008.10:g.91984656del, NC_000008.10:g.91984656dup, NC_000008.10:g.91984655_91984656dup

Select item 14912246862.

rs1491224686 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 8:90972417 (GRCh38)
8:91984645 (GRCh37)
Canonical SPDI:: NC_000008.11:90972416:TA:
Gene:: C8orf88 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.90972417_90972418del, NC_000008.10:g.91984645_91984646del

Select item 14909113893.

rs1490911389 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 8:90963540 (GRCh38)
8:91975768 (GRCh37)
Canonical SPDI:: NC_000008.11:90963539:A:C
Gene:: C8orf88 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.90963540A>C, NC_000008.10:g.91975768A>C

Select item 14908774004.

rs1490877400 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 8:90979897 (GRCh38)
8:91992125 (GRCh37)
Canonical SPDI:: NC_000008.11:90979896:C:A
Gene:: C8orf88 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.90979897C>A, NC_000008.10:g.91992125C>A

Select item 14908629475.

rs1490862947 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 8:90977498 (GRCh38)
8:91989726 (GRCh37)
Canonical SPDI:: NC_000008.11:90977497:T:A
Gene:: C8orf88 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.0004/2 (ALFA)
A=0.0004/2 (Estonian)
HGVS:: NC_000008.11:g.90977498T>A, NC_000008.10:g.91989726T>A

Select item 14905419116.

rs1490541911 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:90969623 (GRCh38)
8:91981851 (GRCh37)
Canonical SPDI:: NC_000008.11:90969622:C:T
Gene:: C8orf88 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.90969623C>T, NC_000008.10:g.91981851C>T

Select item 14904130857.

rs1490413085 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 8:90978322 (GRCh38)
8:91990550 (GRCh37)
Canonical SPDI:: NC_000008.11:90978321:G:A,NC_000008.11:90978321:G:C
Gene:: C8orf88 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00003/8 (TOPMED)
HGVS:: NC_000008.11:g.90978322G>A, NC_000008.11:g.90978322G>C, NC_000008.10:g.91990550G>A, NC_000008.10:g.91990550G>C

Select item 14903726038.

rs1490372603 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 8:90976360 (GRCh38)
8:91988588 (GRCh37)
Canonical SPDI:: NC_000008.11:90976359:A:C
Gene:: C8orf88 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000023/6 (TOPMED)
C=0.00005/7 (GnomAD)
C=0.000156/1 (1000Genomes)
HGVS:: NC_000008.11:g.90976360A>C, NC_000008.10:g.91988588A>C

Select item 14903412589.

rs1490341258 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:90971887 (GRCh38)
8:91984115 (GRCh37)
Canonical SPDI:: NC_000008.11:90971886:T:C
Gene:: C8orf88 (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_000008.11:g.90971887T>C, NC_000008.10:g.91984115T>C

Select item 149029059410.

rs1490290594 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 8:90973084 (GRCh38)
8:91985312 (GRCh37)
Canonical SPDI:: NC_000008.11:90973083:A:T
Gene:: C8orf88 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.90973084A>T, NC_000008.10:g.91985312A>T

Select item 149027616011.

rs1490276160 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 8:90961723 (GRCh38)
8:91973951 (GRCh37)
Canonical SPDI:: NC_000008.11:90961722:AA:
Gene:: C8orf88 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000169/2 (ALFA)
-=0.000129/18 (GnomAD)
-=0.000147/39 (TOPMED)
HGVS:: NC_000008.11:g.90961723_90961724del, NC_000008.10:g.91973951_91973952del

Select item 149006590312.

rs1490065903 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GAGAC [Show Flanks]
Chromosome:: 8:90962848 (GRCh38)
8:91975077 (GRCh37)
Canonical SPDI:: NC_000008.11:90962848:GAGAC:GAGACGAGAC
Gene:: C8orf88 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAGACGAGAC=0./0 (ALFA)
GAGAC=0.000004/1 (TOPMED)
GAGAC=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.90962849_90962853dup, NC_000008.10:g.91975077_91975081dup

Select item 148990277213.

rs1489902772 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:90971019 (GRCh38)
8:91983247 (GRCh37)
Canonical SPDI:: NC_000008.11:90971018:T:C
Gene:: C8orf88 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: C=0.000009/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.90971019T>C, NC_000008.10:g.91983247T>C

Select item 148980096914.

rs1489800969 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 8:90972491 (GRCh38)
8:91984719 (GRCh37)
Canonical SPDI:: NC_000008.11:90972490:A:T
Gene:: C8orf88 (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_000008.11:g.90972491A>T, NC_000008.10:g.91984719A>T

Select item 148973495715.

rs1489734957 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 8:90980997 (GRCh38)
8:91993225 (GRCh37)
Canonical SPDI:: NC_000008.11:90980996:G:C,NC_000008.11:90980996:G:T
Gene:: C8orf88 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.90980997G>C, NC_000008.11:g.90980997G>T, NC_000008.10:g.91993225G>C, NC_000008.10:g.91993225G>T

Select item 148959407616.

rs1489594076 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:90969747 (GRCh38)
8:91981975 (GRCh37)
Canonical SPDI:: NC_000008.11:90969746:G:A
Gene:: C8orf88 (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_000008.11:g.90969747G>A, NC_000008.10:g.91981975G>A

Select item 148953479517.

rs1489534795 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:90964911 (GRCh38)
8:91977139 (GRCh37)
Canonical SPDI:: NC_000008.11:90964910:A:G
Gene:: C8orf88 (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_000008.11:g.90964911A>G, NC_000008.10:g.91977139A>G

Select item 148932956618.

rs1489329566 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 8:90976597 (GRCh38)
8:91988825 (GRCh37)
Canonical SPDI:: NC_000008.11:90976596:G:T
Gene:: C8orf88 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.90976597G>T, NC_000008.10:g.91988825G>T

Select item 148932633419.

rs1489326334 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:90961270 (GRCh38)
8:91973498 (GRCh37)
Canonical SPDI:: NC_000008.11:90961269:T:C
Gene:: C8orf88 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
HGVS:: NC_000008.11:g.90961270T>C, NC_000008.10:g.91973498T>C

Select item 148922453820.

rs1489224538 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 8:90969691 (GRCh38)
8:91981919 (GRCh37)
Canonical SPDI:: NC_000008.11:90969690:T:A,NC_000008.11:90969690:T:C
Gene:: C8orf88 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000008.11:g.90969691T>A, NC_000008.11:g.90969691T>C, NC_000008.10:g.91981919T>A, NC_000008.10:g.91981919T>C

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