SNP Links for Gene (Select 342977) - SNP

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Select item 14913983221.

rs1491398322 [Homo sapiens]

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

Select item 14913168552.

rs1491316855 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 19:13878699 (GRCh38)
19:13989513 (GRCh37)
Canonical SPDI:: NC_000019.10:13878696:CTCT:CT
Gene:: NANOS3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCT=0.000895/4 (ALFA)
-=0.000123/17 (GnomAD)
-=0.000212/6 (TOMMO)
-=0.000893/4 (Estonian)
HGVS:: NC_000019.10:g.13878697CT[1], NC_000019.9:g.13989511CT[1], NW_021160022.1:g.90538CT[1]

Select item 14910232153.

rs1491023215 has merged into rs111469369 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACA>-,CA,CACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA [Show Flanks]
Chromosome:: 19:13876702 (GRCh38)
19:13987516 (GRCh37)
Canonical SPDI:: NC_000019.10:13876692:ACACACACACACACA:ACACACACA,NC_000019.10:13876692:ACACACACACACACA:ACACACACACA,NC_000019.10:13876692:ACACACACACACACA:ACACACACACACA,NC_000019.10:13876692:ACACACACACACACA:ACACACACACACACACA,NC_000019.10:13876692:ACACACACACACACA:ACACACACACACACACACA,NC_000019.10:13876692:ACACACACACACACA:ACACACACACACACACACACA,NC_000019.10:13876692:ACACACACACACACA:ACACACACACACACACACACACA
Gene:: NANOS3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACACACACACA=0./0 (ALFA)
AC=0.19879/887 (Estonian)
AC=0.31604/67 (Vietnamese)
AC=0.34924/1749 (1000Genomes)
HGVS:: NC_000019.10:g.13876694CA[4], NC_000019.10:g.13876694CA[5], NC_000019.10:g.13876694CA[6], NC_000019.10:g.13876694CA[8], NC_000019.10:g.13876694CA[9], NC_000019.10:g.13876694CA[10], NC_000019.10:g.13876694CA[11], NC_000019.9:g.13987508CA[4], NC_000019.9:g.13987508CA[5], NC_000019.9:g.13987508CA[6], NC_000019.9:g.13987508CA[8], NC_000019.9:g.13987508CA[9], NC_000019.9:g.13987508CA[10], NC_000019.9:g.13987508CA[11], NW_021160022.1:g.88535CA[4], NW_021160022.1:g.88535CA[5], NW_021160022.1:g.88535CA[6], NW_021160022.1:g.88535CA[8], NW_021160022.1:g.88535CA[9], NW_021160022.1:g.88535CA[10], NW_021160022.1:g.88535CA[11]

Select item 14909654524.

rs1490965452 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:13868491 (GRCh38)
19:13979305 (GRCh37)
Canonical SPDI:: NC_000019.10:13868490:A:G
Gene:: NANOS3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_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_000019.10:g.13868491A>G, NC_000019.9:g.13979305A>G, NW_021160022.1:g.80332A>G

Select item 14905204325.

rs1490520432 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:13867866 (GRCh38)
19:13978680 (GRCh37)
Canonical SPDI:: NC_000019.10:13867865:G:A
Gene:: NANOS3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000019.10:g.13867866G>A, NC_000019.9:g.13978680G>A, NW_021160022.1:g.79707G>A

Select item 14904980666.

rs1490498066 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:13879858 (GRCh38)
19:13990672 (GRCh37)
Canonical SPDI:: NC_000019.10:13879857:C:G
Gene:: NANOS3 (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_000019.10:g.13879858C>G, NC_000019.9:g.13990672C>G, NW_021160022.1:g.91699C>G

Select item 14904690557.

rs1490469055 [Homo sapiens]

Variant type:: DELINS
Alleles:: GC>- [Show Flanks]
Chromosome:: 19:13869770 (GRCh38)
19:13980584 (GRCh37)
Canonical SPDI:: NC_000019.10:13869768:CGC:C
Gene:: NANOS3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000051/7 (GnomAD)
HGVS:: NC_000019.10:g.13869770_13869771del, NC_000019.9:g.13980584_13980585del, NW_021160022.1:g.81611_81612del

Select item 14902626768.

rs1490262676 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:13875151 (GRCh38)
19:13985965 (GRCh37)
Canonical SPDI:: NC_000019.10:13875150:G:A
Gene:: NANOS3 (Varview), MIR181C (Varview), MIR181D (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,genic_upstream_transcript_variant,upstream_transcript_variant,500B_downstream_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_000019.10:g.13875151G>A, NC_000019.9:g.13985965G>A, NW_021160022.1:g.86992G>A

Select item 14902441859.

rs1490244185 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:13864009 (GRCh38)
19:13974823 (GRCh37)
Canonical SPDI:: NC_000019.10:13864008:C:T
Gene:: NANOS3 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.13864009C>T, NC_000019.9:g.13974823C>T, NW_021160022.1:g.75850C>T

Select item 149019115310.

rs1490191153 [Homo sapiens]

Variant type:: DELINS
Alleles:: GCACGCACACACACACAC>-,GCACGCACACACACACACGCACGCACACACACACAC [Show Flanks]
Chromosome:: 19:13869770 (GRCh38)
19:13980584 (GRCh37)
Canonical SPDI:: NC_000019.10:13869756:CACACACACACACGCACGCACACACACACAC:CACACACACACAC,NC_000019.10:13869756:CACACACACACACGCACGCACACACACACAC:CACACACACACACGCACGCACACACACACACGCACGCACACACACACAC
Gene:: NANOS3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACACACACACGCACGCACACACACACACGCACGCACACACACACAC=0./0 (ALFA)
-=0.000008/1 (GnomAD)
HGVS:: NC_000019.10:g.13869770_13869787del, NC_000019.10:g.13869770_13869787dup, NC_000019.9:g.13980584_13980601del, NC_000019.9:g.13980584_13980601dup, NW_021160022.1:g.81611_81628del, NW_021160022.1:g.81611_81628dup

Select item 149013842611.

rs1490138426 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:13871228 (GRCh38)
19:13982042 (GRCh37)
Canonical SPDI:: NC_000019.10:13871227:T:C
Gene:: NANOS3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.0002/1 (ALFA)
C=0.0002/1 (Estonian)
HGVS:: NC_000019.10:g.13871228T>C, NC_000019.9:g.13982042T>C, NW_021160022.1:g.83069T>C

Select item 148997585912.

rs1489975859 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:13870461 (GRCh38)
19:13981275 (GRCh37)
Canonical SPDI:: NC_000019.10:13870460:T:G
Gene:: NANOS3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.13870461T>G, NC_000019.9:g.13981275T>G, NW_021160022.1:g.82302T>G

Select item 148996969113.

rs1489969691 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:13875730 (GRCh38)
19:13986544 (GRCh37)
Canonical SPDI:: NC_000019.10:13875729:T:G
Gene:: NANOS3 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.13875730T>G, NC_000019.9:g.13986544T>G, NW_021160022.1:g.87571T>G

Select item 148972865914.

rs1489728659 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 19:13879276 (GRCh38)
19:13990091 (GRCh37)
Canonical SPDI:: NC_000019.10:13879276:TT:TTT
Gene:: NANOS3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTT=0./0 (ALFA)
T=0.000043/6 (GnomAD)
T=0.000136/36 (TOPMED)
HGVS:: NC_000019.10:g.13879278dup, NC_000019.9:g.13990092dup, NW_021160022.1:g.91119dup

Select item 148954040015.

rs1489540400 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:13869963 (GRCh38)
19:13980777 (GRCh37)
Canonical SPDI:: NC_000019.10:13869962:C:T
Gene:: NANOS3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_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_000019.10:g.13869963C>T, NC_000019.9:g.13980777C>T, NW_021160022.1:g.81804C>T

Select item 148950572616.

rs1489505726 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:13872136 (GRCh38)
19:13982950 (GRCh37)
Canonical SPDI:: NC_000019.10:13872135:G:A
Gene:: NANOS3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.13872136G>A, NC_000019.9:g.13982950G>A, NW_021160022.1:g.83977G>A

Select item 148944742217.

rs1489447422 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 19:13876137 (GRCh38)
19:13986951 (GRCh37)
Canonical SPDI:: NC_000019.10:13876136:C:
Gene:: NANOS3 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.13876137del, NC_000019.9:g.13986951del, NW_021160022.1:g.87978del

Select item 148934610718.

rs1489346107 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:13872889 (GRCh38)
19:13983703 (GRCh37)
Canonical SPDI:: NC_000019.10:13872888:G:A
Gene:: NANOS3 (Varview), MIR181C (Varview), MIR181D (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.13872889G>A, NC_000019.9:g.13983703G>A, NW_021160022.1:g.84730G>A

Select item 148923252419.

rs1489232524 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:13879004 (GRCh38)
19:13989818 (GRCh37)
Canonical SPDI:: NC_000019.10:13879003:C:T
Gene:: NANOS3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000019.10:g.13879004C>T, NC_000019.9:g.13989818C>T, NW_021160022.1:g.90845C>T

Select item 148920547720.

rs1489205477 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GCCT [Show Flanks]
Chromosome:: 19:13867281 (GRCh38)
19:13978096 (GRCh37)
Canonical SPDI:: NC_000019.10:13867281:CTGCCT:CTGCCTGCCT
Gene:: NANOS3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTGCCTGCCT=0./0 (ALFA)
CTGC=0.000004/1 (TOPMED)
CTGC=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.13867284_13867287dup, NC_000019.9:g.13978098_13978101dup, NW_021160022.1:g.79125_79128dup

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