SNP Links for Nucleotide (Select 1034662944) - SNP

Links from Nucleotide

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Select item 14909090131.

rs1490909013 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 8:56502535 (GRCh38)
8:57415094 (GRCh37)
Canonical SPDI:: NC_000008.11:56502534:C:A,NC_000008.11:56502534:C:T
Gene:: LOC101929398 (Varview), PENK-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
A=0.000142/4 (TOMMO)
HGVS:: NC_000008.11:g.56502535C>A, NC_000008.11:g.56502535C>T, NC_000008.10:g.57415094C>A, NC_000008.10:g.57415094C>T, XR_001745919.1:n.463G>T, XR_001745919.1:n.463G>A

Select item 14906390112.

rs1490639011 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 8:56502993 (GRCh38)
8:57415552 (GRCh37)
Canonical SPDI:: NC_000008.11:56502992:GGG:GG
Gene:: LOC101929398 (Varview), PENK-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.56502995del, NC_000008.10:g.57415554del, XR_001745919.1:n.5del

Select item 14883770643.

rs1488377064 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 8:56495878 (GRCh38)
8:57408437 (GRCh37)
Canonical SPDI:: NC_000008.11:56495877:G:A,NC_000008.11:56495877:G:C
Gene:: LOC101929398 (Varview), PENK-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
A=0.000342/1 (KOREAN)
HGVS:: NC_000008.11:g.56495878G>A, NC_000008.11:g.56495878G>C, NC_000008.10:g.57408437G>A, NC_000008.10:g.57408437G>C, XR_001745919.1:n.928C>T, XR_001745919.1:n.928C>G

Select item 14861646954.

rs1486164695 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:56502696 (GRCh38)
8:57415255 (GRCh37)
Canonical SPDI:: NC_000008.11:56502695:C:T
Gene:: LOC101929398 (Varview), PENK-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.56502696C>T, NC_000008.10:g.57415255C>T, XR_001745919.1:n.302G>A

Select item 14832585565.

rs1483258556 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 8:56495635 (GRCh38)
8:57408194 (GRCh37)
Canonical SPDI:: NC_000008.11:56495634:T:A
Gene:: LOC101929398 (Varview), PENK-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.56495635T>A, NC_000008.10:g.57408194T>A, XR_001745919.1:n.1171A>T

Select item 14815036726.

rs1481503672 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 8:56502651 (GRCh38)
8:57415210 (GRCh37)
Canonical SPDI:: NC_000008.11:56502650:C:A
Gene:: LOC101929398 (Varview), PENK-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.56502651C>A, NC_000008.10:g.57415210C>A, XR_001745919.1:n.347G>T

Select item 14788456937.

rs1478845693 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 8:56502903 (GRCh38)
8:57415463 (GRCh37)
Canonical SPDI:: NC_000008.11:56502903:TTTT:TTTTT
Gene:: LOC101929398 (Varview), PENK-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TTTTT=0.000071/1 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.56502907dup, NC_000008.10:g.57415466dup, XR_001745919.1:n.94dup

Select item 14768892898.

rs1476889289 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 8:56495491 (GRCh38)
8:57408050 (GRCh37)
Canonical SPDI:: NC_000008.11:56495490:T:G
Gene:: LOC101929398 (Varview), PENK-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.56495491T>G, NC_000008.10:g.57408050T>G, XR_001745919.1:n.1315A>C

Select item 14714218919.

rs1471421891 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 8:56495763 (GRCh38)
8:57408322 (GRCh37)
Canonical SPDI:: NC_000008.11:56495762:C:A,NC_000008.11:56495762:C:T
Gene:: LOC101929398 (Varview), PENK-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000008.11:g.56495763C>A, NC_000008.11:g.56495763C>T, NC_000008.10:g.57408322C>A, NC_000008.10:g.57408322C>T, XR_001745919.1:n.1043G>T, XR_001745919.1:n.1043G>A

Select item 147119453610.

rs1471194536 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 8:56502744 (GRCh38)
8:57415303 (GRCh37)
Canonical SPDI:: NC_000008.11:56502743:A:C
Gene:: LOC101929398 (Varview), PENK-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.56502744A>C, NC_000008.10:g.57415303A>C, XR_001745919.1:n.254T>G

Select item 146311383311.

rs1463113833 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 8:56495682 (GRCh38)
8:57408241 (GRCh37)
Canonical SPDI:: NC_000008.11:56495681:G:C
Gene:: LOC101929398 (Varview), PENK-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.56495682G>C, NC_000008.10:g.57408241G>C, XR_001745919.1:n.1124C>G

Select item 146294806512.

rs1462948065 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 8:56495068 (GRCh38)
8:57407628 (GRCh37)
Canonical SPDI:: NC_000008.11:56495068:AAAAAA:AAAAAAA
Gene:: LOC101929398 (Varview), PENK-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAA=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000036/5 (GnomAD)
HGVS:: NC_000008.11:g.56495074dup, NC_000008.10:g.57407633dup, XR_001745919.1:n.1737dup

Select item 146252297613.

rs1462522976 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 8:56502787 (GRCh38)
8:57415346 (GRCh37)
Canonical SPDI:: NC_000008.11:56502786:G:C
Gene:: LOC101929398 (Varview), PENK-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_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_000008.11:g.56502787G>C, NC_000008.10:g.57415346G>C, XR_001745919.1:n.211C>G

Select item 145969959414.

rs1459699594 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:56496210 (GRCh38)
8:57408769 (GRCh37)
Canonical SPDI:: NC_000008.11:56496209:A:G
Gene:: LOC101929398 (Varview), PENK-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.56496210A>G, NC_000008.10:g.57408769A>G, XR_001745919.1:n.596T>C

Select item 145640671215.

rs1456406712 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 8:56496323 (GRCh38)
8:57408882 (GRCh37)
Canonical SPDI:: NC_000008.11:56496322:G:C
Gene:: LOC101929398 (Varview), PENK-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000008.11:g.56496323G>C, NC_000008.10:g.57408882G>C, NR_125813.1:n.795G>C, XR_001745919.1:n.483C>G

Select item 145608407416.

rs1456084074 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 8:56495950 (GRCh38)
8:57408509 (GRCh37)
Canonical SPDI:: NC_000008.11:56495949:A:T
Gene:: LOC101929398 (Varview), PENK-AS1 (Varview)
Functional Consequence:: intron_variant,non_coding_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_000008.11:g.56495950A>T, NC_000008.10:g.57408509A>T, XR_001745919.1:n.856T>A

Select item 145488742417.

rs1454887424 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:56502817 (GRCh38)
8:57415376 (GRCh37)
Canonical SPDI:: NC_000008.11:56502816:T:C
Gene:: LOC101929398 (Varview), PENK-AS1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.56502817T>C, NC_000008.10:g.57415376T>C, XR_001745919.1:n.181A>G

Select item 145461359018.

rs1454613590 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 8:56502638 (GRCh38)
8:57415197 (GRCh37)
Canonical SPDI:: NC_000008.11:56502637:G:T
Gene:: LOC101929398 (Varview), PENK-AS1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000034/9 (TOPMED)
HGVS:: NC_000008.11:g.56502638G>T, NC_000008.10:g.57415197G>T, XR_001745919.1:n.360C>A

Select item 145160083019.

rs1451600830 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 8:56502809 (GRCh38)
8:57415368 (GRCh37)
Canonical SPDI:: NC_000008.11:56502808:G:A,NC_000008.11:56502808:G:C
Gene:: LOC101929398 (Varview), PENK-AS1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.56502809G>A, NC_000008.11:g.56502809G>C, NC_000008.10:g.57415368G>A, NC_000008.10:g.57415368G>C, XR_001745919.1:n.189C>T, XR_001745919.1:n.189C>G

Select item 145067045420.

rs1450670454 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:56495352 (GRCh38)
8:57407911 (GRCh37)
Canonical SPDI:: NC_000008.11:56495351:A:G
Gene:: LOC101929398 (Varview), PENK-AS1 (Varview)
Functional Consequence:: intron_variant,non_coding_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_000008.11:g.56495352A>G, NC_000008.10:g.57407911A>G, XR_001745919.1:n.1454T>C

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