SNP Links for Gene (Select 54700) - SNP

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Select item 14914989971.

rs1491498997 [Homo sapiens]

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

Select item 14914797932.

rs1491479793 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 16:15089811 (GRCh38)
16:15183669 (GRCh37)
Canonical SPDI:: NC_000016.10:15089811:C:CC
Gene:: PDXDC1 (Varview), RRN3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
C=0.005431/668 (GnomAD)
HGVS:: NC_000016.10:g.15089812dup, NC_000016.9:g.15183669dup, NT_187607.1:g.579863dup

Select item 14914470423.

rs1491447042 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 16:15089786 (GRCh38)
16:15183643 (GRCh37)
Canonical SPDI:: NC_000016.10:15089785:CA:
Gene:: PDXDC1 (Varview), RRN3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00051/6 (ALFA)
HGVS:: NC_000016.10:g.15089786_15089787del, NC_000016.9:g.15183643_15183644del, NT_187607.1:g.579883dup, NT_187607.1:g.579884del

Select item 14913487784.

rs1491348778 has merged into rs142235345 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 16:15089796 (GRCh38)
16:15183653 (GRCh37)
Canonical SPDI:: NC_000016.10:15089786:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000016.10:15089786:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000016.10:15089786:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000016.10:15089786:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000016.10:15089786:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000016.10:15089786:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000016.10:15089786:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000016.10:15089786:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000016.10:15089786:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000016.10:15089786:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000016.10:15089786:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000016.10:15089786:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000016.10:15089786:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000016.10:15089786:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:15089786:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:15089786:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:15089786:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:15089786:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:15089786:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:15089786:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:15089786:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:15089786:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:15089786:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:15089786:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:15089786:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:15089786:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:15089786:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:15089786:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:15089786:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:15089786:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PDXDC1 (Varview), RRN3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
AAAAA=0.2961/1483 (1000Genomes)
HGVS:: NC_000016.10:g.15089796_15089811del, NC_000016.10:g.15089797_15089811del, NC_000016.10:g.15089798_15089811del, NC_000016.10:g.15089799_15089811del, NC_000016.10:g.15089800_15089811del, NC_000016.10:g.15089801_15089811del, NC_000016.10:g.15089802_15089811del, NC_000016.10:g.15089803_15089811del, NC_000016.10:g.15089804_15089811del, NC_000016.10:g.15089805_15089811del, NC_000016.10:g.15089806_15089811del, NC_000016.10:g.15089807_15089811del, NC_000016.10:g.15089808_15089811del, NC_000016.10:g.15089809_15089811del, NC_000016.10:g.15089810_15089811del, NC_000016.10:g.15089811del, NC_000016.10:g.15089811dup, NC_000016.10:g.15089810_15089811dup, NC_000016.10:g.15089809_15089811dup, NC_000016.10:g.15089808_15089811dup, NC_000016.10:g.15089807_15089811dup, NC_000016.10:g.15089806_15089811dup, NC_000016.10:g.15089805_15089811dup, NC_000016.10:g.15089804_15089811dup, NC_000016.10:g.15089803_15089811dup, NC_000016.10:g.15089802_15089811dup, NC_000016.10:g.15089801_15089811dup, NC_000016.10:g.15089799_15089811dup, NC_000016.10:g.15089791_15089811dup, NC_000016.10:g.15089790_15089811dup, NC_000016.9:g.15183653_15183668del, NC_000016.9:g.15183654_15183668del, NC_000016.9:g.15183655_15183668del, NC_000016.9:g.15183656_15183668del, NC_000016.9:g.15183657_15183668del, NC_000016.9:g.15183658_15183668del, NC_000016.9:g.15183659_15183668del, NC_000016.9:g.15183660_15183668del, NC_000016.9:g.15183661_15183668del, NC_000016.9:g.15183662_15183668del, NC_000016.9:g.15183663_15183668del, NC_000016.9:g.15183664_15183668del, NC_000016.9:g.15183665_15183668del, NC_000016.9:g.15183666_15183668del, NC_000016.9:g.15183667_15183668del, NC_000016.9:g.15183668del, NC_000016.9:g.15183668dup, NC_000016.9:g.15183667_15183668dup, NC_000016.9:g.15183666_15183668dup, NC_000016.9:g.15183665_15183668dup, NC_000016.9:g.15183664_15183668dup, NC_000016.9:g.15183663_15183668dup, NC_000016.9:g.15183662_15183668dup, NC_000016.9:g.15183661_15183668dup, NC_000016.9:g.15183660_15183668dup, NC_000016.9:g.15183659_15183668dup, NC_000016.9:g.15183658_15183668dup, NC_000016.9:g.15183656_15183668dup, NC_000016.9:g.15183648_15183668dup, NC_000016.9:g.15183647_15183668dup, NT_187607.1:g.579879_579883dup, NT_187607.1:g.579873_579883del, NT_187607.1:g.579874_579883del, NT_187607.1:g.579875_579883del, NT_187607.1:g.579876_579883del, NT_187607.1:g.579877_579883del, NT_187607.1:g.579878_579883del, NT_187607.1:g.579879_579883del, NT_187607.1:g.579880_579883del, NT_187607.1:g.579881_579883del, NT_187607.1:g.579882_579883del, NT_187607.1:g.579883del, NT_187607.1:g.579883dup, NT_187607.1:g.579882_579883dup, NT_187607.1:g.579881_579883dup, NT_187607.1:g.579880_579883dup, NT_187607.1:g.579878_579883dup, NT_187607.1:g.579877_579883dup, NT_187607.1:g.579876_579883dup, NT_187607.1:g.579875_579883dup, NT_187607.1:g.579874_579883dup, NT_187607.1:g.579873_579883dup, NT_187607.1:g.579872_579883dup, NT_187607.1:g.579871_579883dup, NT_187607.1:g.579870_579883dup, NT_187607.1:g.579869_579883dup, NT_187607.1:g.579868_579883dup, NT_187607.1:g.579866_579883dup, NT_187607.1:g.579883_579884insTTTTTTTTTTTTTTTTTTTTTTTTTT, NT_187607.1:g.579883_579884insTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14910602835.

rs1491060283 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 16:15060011 (GRCh38)
16:15153868 (GRCh37)
Canonical SPDI:: NC_000016.10:15060009:ACA:A
Gene:: PDXDC1 (Varview), RRN3 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000927/11 (ALFA)
-=0.00025/35 (GnomAD)
HGVS:: NC_000016.10:g.15060011_15060012del, NC_000016.9:g.15153868_15153869del, NT_187607.1:g.609669_609670del

Select item 14909450476.

rs1490945047 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 16:15076059 (GRCh38)
16:15169916 (GRCh37)
Canonical SPDI:: NC_000016.10:15076058:A:
Gene:: PDXDC1 (Varview), RRN3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000016.10:g.15076059del, NC_000016.9:g.15169916del, NT_187607.1:g.593615del

Select item 14908099427.

rs1490809942 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 16:15062379 (GRCh38)
16:15156236 (GRCh37)
Canonical SPDI:: NC_000016.10:15062377:ATA:A
Gene:: PDXDC1 (Varview), RRN3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.15062379_15062380del, NC_000016.9:g.15156236_15156237del, NT_187607.1:g.607301_607302del

Select item 14907825628.

rs1490782562 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 16:15093173 (GRCh38)
16:15187030 (GRCh37)
Canonical SPDI:: NC_000016.10:15093172:T:A,NC_000016.10:15093172:T:C
Gene:: PDXDC1 (Varview), RRN3 (Varview), LOC100505915 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_downstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000016.10:g.15093173T>A, NC_000016.10:g.15093173T>C, NC_000016.9:g.15187030T>A, NC_000016.9:g.15187030T>C, NT_187607.1:g.576503A>T, NT_187607.1:g.576503A>G

Select item 14906090569.

rs1490609056 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:15093345 (GRCh38)
16:15187202 (GRCh37)
Canonical SPDI:: NC_000016.10:15093344:T:C
Gene:: PDXDC1 (Varview), RRN3 (Varview), LOC100505915 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_downstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000019/5 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000016.10:g.15093345T>C, NC_000016.9:g.15187202T>C, NT_187607.1:g.576331A>G

Select item 149054331610.

rs1490543316 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:15062637 (GRCh38)
16:15156494 (GRCh37)
Canonical SPDI:: NC_000016.10:15062636:G:C
Gene:: PDXDC1 (Varview), RRN3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.15062637G>C, NC_000016.9:g.15156494G>C, NT_187607.1:g.607043C>G

Select item 149050130911.

rs1490501309 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 16:15077789 (GRCh38)
16:15171646 (GRCh37)
Canonical SPDI:: NC_000016.10:15077788:C:A,NC_000016.10:15077788:C:T
Gene:: PDXDC1 (Varview), RRN3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00005/1 (ALFA)
HGVS:: NC_000016.10:g.15077789C>A, NC_000016.10:g.15077789C>T, NC_000016.9:g.15171646C>A, NC_000016.9:g.15171646C>T, NT_187607.1:g.591884G>T, NT_187607.1:g.591884G>A

Select item 149031386112.

rs1490313861 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 16:15078837 (GRCh38)
16:15172694 (GRCh37)
Canonical SPDI:: NC_000016.10:15078834:AGAG:AG
Gene:: PDXDC1 (Varview), RRN3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: AGAG=0./0 (ALFA)
-=0.000016/2 (GnomAD)
HGVS:: NC_000016.10:g.15078835AG[1], NC_000016.9:g.15172692AG[1], NT_187607.1:g.590836CT[1]

Select item 149019444413.

rs1490194444 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:15079984 (GRCh38)
16:15173841 (GRCh37)
Canonical SPDI:: NC_000016.10:15079983:T:C
Gene:: PDXDC1 (Varview), RRN3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
HGVS:: NC_000016.10:g.15079984T>C, NC_000016.9:g.15173841T>C, NT_187607.1:g.589690A>G

Select item 149015359614.

rs1490153596 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 16:15088037 (GRCh38)
16:15181894 (GRCh37)
Canonical SPDI:: NC_000016.10:15088036:A:C
Gene:: PDXDC1 (Varview), RRN3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.15088037A>C, NC_000016.9:g.15181894A>C, NT_187607.1:g.581633T>G

Select item 149004320915.

rs1490043209 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 16:15063533 (GRCh38)
16:15157390 (GRCh37)
Canonical SPDI:: NC_000016.10:15063532:C:A,NC_000016.10:15063532:C:G,NC_000016.10:15063532:C:T
Gene:: PDXDC1 (Varview), RRN3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000016.10:g.15063533C>A, NC_000016.10:g.15063533C>G, NC_000016.10:g.15063533C>T, NC_000016.9:g.15157390C>A, NC_000016.9:g.15157390C>G, NC_000016.9:g.15157390C>T, NT_187607.1:g.606147G>T, NT_187607.1:g.606147G>C, NT_187607.1:g.606147G>A

Select item 148990210516.

rs1489902105 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:15082571 (GRCh38)
16:15176428 (GRCh37)
Canonical SPDI:: NC_000016.10:15082570:G:A
Gene:: PDXDC1 (Varview), RRN3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000016.10:g.15082571G>A, NC_000016.9:g.15176428G>A, NT_187607.1:g.587101C>T

Select item 148986409117.

rs1489864091 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 16:15070642 (GRCh38)
16:15164499 (GRCh37)
Canonical SPDI:: NC_000016.10:15070641:T:A
Gene:: PDXDC1 (Varview), RRN3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.15070642T>A, NC_000016.9:g.15164499T>A, NT_187607.1:g.599027A>T

Select item 148984571718.

rs1489845717 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:15069645 (GRCh38)
16:15163502 (GRCh37)
Canonical SPDI:: NC_000016.10:15069644:T:C
Gene:: PDXDC1 (Varview), RRN3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,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_000016.10:g.15069645T>C, NC_000016.9:g.15163502T>C, NT_187607.1:g.600024A>G

Select item 148983515419.

rs1489835154 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:15080997 (GRCh38)
16:15174854 (GRCh37)
Canonical SPDI:: NC_000016.10:15080996:G:A
Gene:: PDXDC1 (Varview), RRN3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.15080997G>A, NC_000016.9:g.15174854G>A, NT_187607.1:g.588675C>T

Select item 148978425820.

rs1489784258 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:15061660 (GRCh38)
16:15155517 (GRCh37)
Canonical SPDI:: NC_000016.10:15061659:G:C
Gene:: PDXDC1 (Varview), RRN3 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.15061660G>C, NC_000016.9:g.15155517G>C, NT_187607.1:g.608020C>G, NM_018427.5:c.*84C>G, NM_018427.4:c.*84C>G, NM_018427.3:c.*84C>G, NM_001301064.1:c.*84C>G

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