SNP Links for Gene (Select 151648) - SNP

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Select item 14915816181.

rs1491581618 has merged into rs35968550 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 3:20172501 (GRCh38)
3:20213993 (GRCh37)
Canonical SPDI:: NC_000003.12:20172500:CA:
Gene:: SGO1 (Varview), SGO1-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00051/6 (ALFA)
-=0.0012/34 (TOMMO)
HGVS:: NC_000003.12:g.20172501_20172502del, NC_000003.11:g.20213993_20213994del, NG_042062.1:g.18730_18731del

Select item 14915416662.

rs1491541666 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 3:20165829 (GRCh38)
3:20207322 (GRCh37)
Canonical SPDI:: NC_000003.12:20165829::C
Gene:: SGO1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000224/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000003.12:g.20165829_20165830insC, NC_000003.11:g.20207321_20207322insC, NG_042062.1:g.25402_25403insG

Select item 14915333653.

rs1491533365 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 3:20172791 (GRCh38)
3:20214283 (GRCh37)
Canonical SPDI:: NC_000003.12:20172790:GT:
Gene:: SGO1 (Varview), SGO1-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000003.12:g.20172791_20172792del, NC_000003.11:g.20214283_20214284del, NG_042062.1:g.18440_18441del

Select item 14913803034.

rs1491380303 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 3:20172791 (GRCh38)
3:20214284 (GRCh37)
Canonical SPDI:: NC_000003.12:20172791:T:TT
Gene:: SGO1 (Varview), SGO1-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
T=0.00003/1 (GnomAD)
HGVS:: NC_000003.12:g.20172792dup, NC_000003.11:g.20214284dup, NG_042062.1:g.18440dup

Select item 14912861645.

rs1491286164 has merged into rs60350092 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA [Show Flanks]
Chromosome:: 3:20184934 (GRCh38)
3:20226426 (GRCh37)
Canonical SPDI:: NC_000003.12:20184926:AAAAAAAAAA:AAAAAAA,NC_000003.12:20184926:AAAAAAAAAA:AAAAAAAA,NC_000003.12:20184926:AAAAAAAAAA:AAAAAAAAA,NC_000003.12:20184926:AAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:20184926:AAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:20184926:AAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:20184926:AAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:20184926:AAAAAAAAAA:AAAAAAAAAAAAAAA
Gene:: SGO1 (Varview), SGO1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
A=0.1524/763 (1000Genomes)
HGVS:: NC_000003.12:g.20184934_20184936del, NC_000003.12:g.20184935_20184936del, NC_000003.12:g.20184936del, NC_000003.12:g.20184936dup, NC_000003.12:g.20184935_20184936dup, NC_000003.12:g.20184934_20184936dup, NC_000003.12:g.20184933_20184936dup, NC_000003.12:g.20184932_20184936dup, NC_000003.11:g.20226426_20226428del, NC_000003.11:g.20226427_20226428del, NC_000003.11:g.20226428del, NC_000003.11:g.20226428dup, NC_000003.11:g.20226427_20226428dup, NC_000003.11:g.20226426_20226428dup, NC_000003.11:g.20226425_20226428dup, NC_000003.11:g.20226424_20226428dup, NG_042062.1:g.6303_6305del, NG_042062.1:g.6304_6305del, NG_042062.1:g.6305del, NG_042062.1:g.6305dup, NG_042062.1:g.6304_6305dup, NG_042062.1:g.6303_6305dup, NG_042062.1:g.6302_6305dup, NG_042062.1:g.6301_6305dup

Select item 14911104036.

rs1491110403 has merged into rs60237637 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 3:20172512 (GRCh38)
3:20214004 (GRCh37)
Canonical SPDI:: NC_000003.12:20172501:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000003.12:20172501:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:20172501:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:20172501:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:20172501:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:20172501:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:20172501:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:20172501:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:20172501:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:20172501:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:20172501:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:20172501:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:20172501:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:20172501:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SGO1 (Varview), SGO1-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.20172512_20172521del, NC_000003.12:g.20172513_20172521del, NC_000003.12:g.20172514_20172521del, NC_000003.12:g.20172515_20172521del, NC_000003.12:g.20172517_20172521del, NC_000003.12:g.20172518_20172521del, NC_000003.12:g.20172519_20172521del, NC_000003.12:g.20172520_20172521del, NC_000003.12:g.20172521del, NC_000003.12:g.20172521dup, NC_000003.12:g.20172520_20172521dup, NC_000003.12:g.20172519_20172521dup, NC_000003.12:g.20172518_20172521dup, NC_000003.12:g.20172517_20172521dup, NC_000003.11:g.20214004_20214013del, NC_000003.11:g.20214005_20214013del, NC_000003.11:g.20214006_20214013del, NC_000003.11:g.20214007_20214013del, NC_000003.11:g.20214009_20214013del, NC_000003.11:g.20214010_20214013del, NC_000003.11:g.20214011_20214013del, NC_000003.11:g.20214012_20214013del, NC_000003.11:g.20214013del, NC_000003.11:g.20214013dup, NC_000003.11:g.20214012_20214013dup, NC_000003.11:g.20214011_20214013dup, NC_000003.11:g.20214010_20214013dup, NC_000003.11:g.20214009_20214013dup, NG_042062.1:g.18721_18730del, NG_042062.1:g.18722_18730del, NG_042062.1:g.18723_18730del, NG_042062.1:g.18724_18730del, NG_042062.1:g.18726_18730del, NG_042062.1:g.18727_18730del, NG_042062.1:g.18728_18730del, NG_042062.1:g.18729_18730del, NG_042062.1:g.18730del, NG_042062.1:g.18730dup, NG_042062.1:g.18729_18730dup, NG_042062.1:g.18728_18730dup, NG_042062.1:g.18727_18730dup, NG_042062.1:g.18726_18730dup

Select item 14911083307.

rs1491108330 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 3:20166842 (GRCh38)
3:20208334 (GRCh37)
Canonical SPDI:: NC_000003.12:20166841:CA:
Gene:: SGO1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000003.12:g.20166842_20166843del, NC_000003.11:g.20208334_20208335del, NG_042062.1:g.24389_24390del

Select item 14910597068.

rs1491059706 has merged into rs60411282 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 3:20172803 (GRCh38)
3:20214295 (GRCh37)
Canonical SPDI:: NC_000003.12:20172792:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000003.12:20172792:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:20172792:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:20172792:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:20172792:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:20172792:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:20172792:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:20172792:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:20172792:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:20172792:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:20172792:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:20172792:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:20172792:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:20172792:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:20172792:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:20172792:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:20172792:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:20172792:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:20172792:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:20172792:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:20172792:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:20172792:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:20172792:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:20172792:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SGO1 (Varview), SGO1-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
-=0.45/18 (GENOME_DK)
HGVS:: NC_000003.12:g.20172803_20172816del, NC_000003.12:g.20172806_20172816del, NC_000003.12:g.20172807_20172816del, NC_000003.12:g.20172808_20172816del, NC_000003.12:g.20172810_20172816del, NC_000003.12:g.20172811_20172816del, NC_000003.12:g.20172812_20172816del, NC_000003.12:g.20172813_20172816del, NC_000003.12:g.20172814_20172816del, NC_000003.12:g.20172815_20172816del, NC_000003.12:g.20172816del, NC_000003.12:g.20172816dup, NC_000003.12:g.20172815_20172816dup, NC_000003.12:g.20172814_20172816dup, NC_000003.12:g.20172813_20172816dup, NC_000003.12:g.20172812_20172816dup, NC_000003.12:g.20172811_20172816dup, NC_000003.12:g.20172810_20172816dup, NC_000003.12:g.20172808_20172816dup, NC_000003.12:g.20172807_20172816dup, NC_000003.12:g.20172806_20172816dup, NC_000003.12:g.20172805_20172816dup, NC_000003.12:g.20172804_20172816dup, NC_000003.12:g.20172803_20172816dup, NC_000003.11:g.20214295_20214308del, NC_000003.11:g.20214298_20214308del, NC_000003.11:g.20214299_20214308del, NC_000003.11:g.20214300_20214308del, NC_000003.11:g.20214302_20214308del, NC_000003.11:g.20214303_20214308del, NC_000003.11:g.20214304_20214308del, NC_000003.11:g.20214305_20214308del, NC_000003.11:g.20214306_20214308del, NC_000003.11:g.20214307_20214308del, NC_000003.11:g.20214308del, NC_000003.11:g.20214308dup, NC_000003.11:g.20214307_20214308dup, NC_000003.11:g.20214306_20214308dup, NC_000003.11:g.20214305_20214308dup, NC_000003.11:g.20214304_20214308dup, NC_000003.11:g.20214303_20214308dup, NC_000003.11:g.20214302_20214308dup, NC_000003.11:g.20214300_20214308dup, NC_000003.11:g.20214299_20214308dup, NC_000003.11:g.20214298_20214308dup, NC_000003.11:g.20214297_20214308dup, NC_000003.11:g.20214296_20214308dup, NC_000003.11:g.20214295_20214308dup, NG_042062.1:g.18426_18439del, NG_042062.1:g.18429_18439del, NG_042062.1:g.18430_18439del, NG_042062.1:g.18431_18439del, NG_042062.1:g.18433_18439del, NG_042062.1:g.18434_18439del, NG_042062.1:g.18435_18439del, NG_042062.1:g.18436_18439del, NG_042062.1:g.18437_18439del, NG_042062.1:g.18438_18439del, NG_042062.1:g.18439del, NG_042062.1:g.18439dup, NG_042062.1:g.18438_18439dup, NG_042062.1:g.18437_18439dup, NG_042062.1:g.18436_18439dup, NG_042062.1:g.18435_18439dup, NG_042062.1:g.18434_18439dup, NG_042062.1:g.18433_18439dup, NG_042062.1:g.18431_18439dup, NG_042062.1:g.18430_18439dup, NG_042062.1:g.18429_18439dup, NG_042062.1:g.18428_18439dup, NG_042062.1:g.18427_18439dup, NG_042062.1:g.18426_18439dup

Select item 14910358749.

rs1491035874 has merged into rs56284216 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 3:20175808 (GRCh38)
3:20217300 (GRCh37)
Canonical SPDI:: NC_000003.12:20175795:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:20175795:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:20175795:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:20175795:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:20175795:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:20175795:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:20175795:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SGO1 (Varview), SGO1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.2102/810 (ALSPAC)
-=0.2139/793 (TWINSUK)
-=0.4035/533 (1000Genomes)
HGVS:: NC_000003.12:g.20175808_20175809del, NC_000003.12:g.20175809del, NC_000003.12:g.20175809dup, NC_000003.12:g.20175808_20175809dup, NC_000003.12:g.20175807_20175809dup, NC_000003.12:g.20175806_20175809dup, NC_000003.12:g.20175797_20175809dup, NC_000003.11:g.20217300_20217301del, NC_000003.11:g.20217301del, NC_000003.11:g.20217301dup, NC_000003.11:g.20217300_20217301dup, NC_000003.11:g.20217299_20217301dup, NC_000003.11:g.20217298_20217301dup, NC_000003.11:g.20217289_20217301dup, NG_042062.1:g.15435_15436del, NG_042062.1:g.15436del, NG_042062.1:g.15436dup, NG_042062.1:g.15435_15436dup, NG_042062.1:g.15434_15436dup, NG_042062.1:g.15433_15436dup, NG_042062.1:g.15424_15436dup

Select item 149096434810.

rs1490964348 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:20165632 (GRCh38)
3:20207124 (GRCh37)
Canonical SPDI:: NC_000003.12:20165631:G:A
Gene:: SGO1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.20165632G>A, NC_000003.11:g.20207124G>A, NG_042062.1:g.25600C>T

Select item 149093838911.

rs1490938389 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 3:20166745 (GRCh38)
3:20208237 (GRCh37)
Canonical SPDI:: NC_000003.12:20166744:C:A,NC_000003.12:20166744:C:G,NC_000003.12:20166744:C:T
Gene:: SGO1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.20166745C>A, NC_000003.12:g.20166745C>G, NC_000003.12:g.20166745C>T, NC_000003.11:g.20208237C>A, NC_000003.11:g.20208237C>G, NC_000003.11:g.20208237C>T, NG_042062.1:g.24487G>T, NG_042062.1:g.24487G>C, NG_042062.1:g.24487G>A

Select item 149074923812.

rs1490749238 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 3:20180303 (GRCh38)
3:20221795 (GRCh37)
Canonical SPDI:: NC_000003.12:20180302:C:A,NC_000003.12:20180302:C:T
Gene:: SGO1 (Varview), SGO1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.20180303C>A, NC_000003.12:g.20180303C>T, NC_000003.11:g.20221795C>A, NC_000003.11:g.20221795C>T, NG_042062.1:g.10929G>T, NG_042062.1:g.10929G>A

Select item 149062845213.

rs1490628452 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:20181892 (GRCh38)
3:20223384 (GRCh37)
Canonical SPDI:: NC_000003.12:20181891:G:C
Gene:: SGO1 (Varview), SGO1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.20181892G>C, NC_000003.11:g.20223384G>C, NG_042062.1:g.9340C>G

Select item 149060246514.

rs1490602465 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:20180747 (GRCh38)
3:20222239 (GRCh37)
Canonical SPDI:: NC_000003.12:20180746:T:C
Gene:: SGO1 (Varview), SGO1-AS1 (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_000003.12:g.20180747T>C, NC_000003.11:g.20222239T>C, NG_042062.1:g.10485A>G

Select item 149060199415.

rs1490601994 has merged into rs1313336484 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT [Show Flanks]
Chromosome:: 3:20168656 (GRCh38)
3:20210148 (GRCh37)
Canonical SPDI:: NC_000003.12:20168644:TTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:20168644:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:20168644:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:20168644:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:20168644:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:20168644:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:20168644:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:20168644:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT
Gene:: SGO1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
T=0.08948/573 (1000Genomes)
T=0.375/3 (KOREAN)
HGVS:: NC_000003.12:g.20168656_20168660del, NC_000003.12:g.20168658_20168660del, NC_000003.12:g.20168659_20168660del, NC_000003.12:g.20168660del, NC_000003.12:g.20168660dup, NC_000003.12:g.20168659_20168660dup, NC_000003.12:g.20168658_20168660dup, NC_000003.12:g.20168657_20168660dup, NC_000003.11:g.20210148_20210152del, NC_000003.11:g.20210150_20210152del, NC_000003.11:g.20210151_20210152del, NC_000003.11:g.20210152del, NC_000003.11:g.20210152dup, NC_000003.11:g.20210151_20210152dup, NC_000003.11:g.20210150_20210152dup, NC_000003.11:g.20210149_20210152dup, NG_042062.1:g.22583_22587del, NG_042062.1:g.22585_22587del, NG_042062.1:g.22586_22587del, NG_042062.1:g.22587del, NG_042062.1:g.22587dup, NG_042062.1:g.22586_22587dup, NG_042062.1:g.22585_22587dup, NG_042062.1:g.22584_22587dup, NM_001012409.2:c.*2055_*2059del, NM_001012409.2:c.*2057_*2059del, NM_001012409.2:c.*2058_*2059del, NM_001012409.2:c.*2059del, NM_001012409.2:c.*2059dup, NM_001012409.2:c.*2058_*2059dup, NM_001012409.2:c.*2057_*2059dup, NM_001012409.2:c.*2056_*2059dup, NM_001012411.2:c.*2055_*2059del, NM_001012411.2:c.*2057_*2059del, NM_001012411.2:c.*2058_*2059del, NM_001012411.2:c.*2059del, NM_001012411.2:c.*2059dup, NM_001012411.2:c.*2058_*2059dup, NM_001012411.2:c.*2057_*2059dup, NM_001012411.2:c.*2056_*2059dup, NM_001012413.2:c.*2055_*2059del, NM_001012413.2:c.*2057_*2059del, NM_001012413.2:c.*2058_*2059del, NM_001012413.2:c.*2059del, NM_001012413.2:c.*2059dup, NM_001012413.2:c.*2058_*2059dup, NM_001012413.2:c.*2057_*2059dup, NM_001012413.2:c.*2056_*2059dup, NM_001199251.1:c.*2055_*2059del, NM_001199251.1:c.*2057_*2059del, NM_001199251.1:c.*2058_*2059del, NM_001199251.1:c.*2059del, NM_001199251.1:c.*2059dup, NM_001199251.1:c.*2058_*2059dup, NM_001199251.1:c.*2057_*2059dup, NM_001199251.1:c.*2056_*2059dup, NM_001199253.1:c.*2055_*2059del, NM_001199253.1:c.*2057_*2059del, NM_001199253.1:c.*2058_*2059del, NM_001199253.1:c.*2059del, NM_001199253.1:c.*2059dup, NM_001199253.1:c.*2058_*2059dup, NM_001199253.1:c.*2057_*2059dup, NM_001199253.1:c.*2056_*2059dup, NM_001199255.1:c.*2055_*2059del, NM_001199255.1:c.*2057_*2059del, NM_001199255.1:c.*2058_*2059del, NM_001199255.1:c.*2059del, NM_001199255.1:c.*2059dup, NM_001199255.1:c.*2058_*2059dup, NM_001199255.1:c.*2057_*2059dup, NM_001199255.1:c.*2056_*2059dup

Select item 149058452216.

rs1490584522 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:20160646 (GRCh38)
3:20202138 (GRCh37)
Canonical SPDI:: NC_000003.12:20160645:G:A
Gene:: SGO1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.20160646G>A, NC_000003.11:g.20202138G>A, NG_042062.1:g.30586C>T, NM_001012410.5:c.*459C>T, NM_001012410.4:c.*459C>T, NM_001012410.3:c.*459C>T, NM_001012412.5:c.*459C>T, NM_001012412.4:c.*459C>T, NM_001012412.3:c.*459C>T, NM_138484.5:c.*459C>T, NM_138484.4:c.*459C>T, NM_138484.3:c.*459C>T, NM_001199252.3:c.*459C>T, NM_001199252.2:c.*459C>T, NM_001199252.1:c.*459C>T, NM_001199254.3:c.*459C>T, NM_001199254.2:c.*459C>T, NM_001199254.1:c.*459C>T, NM_001199256.3:c.*459C>T, NM_001199256.2:c.*459C>T, NM_001199256.1:c.*459C>T, NM_001199257.3:c.*459C>T, NM_001199257.2:c.*459C>T, NM_001199257.1:c.*459C>T, XM_011533375.3:c.*459C>T, XM_011533375.1:c.*459C>T, XM_011533376.3:c.*459C>T, XM_011533376.1:c.*459C>T, XM_011533373.3:c.*459C>T, XM_011533373.1:c.*459C>T, XM_011533377.3:c.*459C>T, XM_011533377.1:c.*459C>T, XM_047447487.1:c.*459C>T, XM_047447486.1:c.*459C>T

Select item 149049428317.

rs1490494283 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 3:20173781 (GRCh38)
3:20215273 (GRCh37)
Canonical SPDI:: NC_000003.12:20173780:A:C
Gene:: SGO1 (Varview), SGO1-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.20173781A>C, NC_000003.11:g.20215273A>C, NG_042062.1:g.17451T>G

Select item 149041929118.

rs1490419291 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:20189280 (GRCh38)
3:20230772 (GRCh37)
Canonical SPDI:: NC_000003.12:20189279:A:G
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.20189280A>G, NC_000003.11:g.20230772A>G, NG_042062.1:g.1952T>C

Select item 149032897219.

rs1490328972 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:20173373 (GRCh38)
3:20214865 (GRCh37)
Canonical SPDI:: NC_000003.12:20173372:C:T
Gene:: SGO1 (Varview), SGO1-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.20173373C>T, NC_000003.11:g.20214865C>T, NG_042062.1:g.17859G>A

Select item 149025463820.

rs1490254638 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:20188730 (GRCh38)
3:20230222 (GRCh37)
Canonical SPDI:: NC_000003.12:20188729:G:A
Gene:: SGO1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000003.12:g.20188730G>A, NC_000003.11:g.20230222G>A, NG_042062.1:g.2502C>T

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