SNP Links for Nucleotide (Select 190358473) - SNP

Links from Nucleotide

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Select item 14915122471.

rs1491512247 [Homo sapiens]

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

Select item 14912404262.

rs1491240426 has merged into rs57482599 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 17:7446327 (GRCh38)
17:7349646 (GRCh37)
Canonical SPDI:: NC_000017.11:7446325:TCT:T
Gene:: CHRNB1 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.04949/587 (ALFA)
-=0.02785/426 (TOMMO)
-=0.04536/83 (Korea1K)
-=0.10033/60 (NorthernSweden)
-=0.11947/443 (TWINSUK)
-=0.13096/7106 (GnomAD)
-=0.13337/514 (ALSPAC)
HGVS:: NC_000017.11:g.7446327_7446328del, NC_000017.10:g.7349646_7349647del, NG_008026.1:g.6241_6242del, NW_016107299.1:g.66784_66785del

Select item 14911667123.

rs1491166712 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTAA [Show Flanks]
Chromosome:: 17:7450043 (GRCh38)
17:7353363 (GRCh37)
Canonical SPDI:: NC_000017.11:7450043:TAA:TAAGTAA
Gene:: CHRNB1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TAAGTAA=0./0 (ALFA)
HGVS:: NC_000017.11:g.7450046_7450047insGTAA, NC_000017.10:g.7353365_7353366insGTAA, NG_008026.1:g.9960_9961insGTAA, NW_016107299.1:g.70503_70504insGTAA

Select item 14911439054.

rs1491143905 [Homo sapiens]

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

Select item 14910571515.

rs1491057151 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 17:7451274 (GRCh38)
17:7354593 (GRCh37)
Canonical SPDI:: NC_000017.11:7451272:TCT:T
Gene:: CHRNB1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.042199/687 (ALFA)
-=0.046499/5547 (GnomAD)
-=0.078002/1259 (TOMMO)
HGVS:: NC_000017.11:g.7451274_7451275del, NC_000017.10:g.7354593_7354594del, NG_008026.1:g.11188_11189del, NW_016107299.1:g.71731_71732del

Select item 14906115276.

rs1490611527 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:7447989 (GRCh38)
17:7351308 (GRCh37)
Canonical SPDI:: NC_000017.11:7447988:C:T
Gene:: CHRNB1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/2 (GnomAD)
T=0.000071/1 (TOMMO)
T=0.000546/1 (Korea1K)
HGVS:: NC_000017.11:g.7447989C>T, NC_000017.10:g.7351308C>T, NG_008026.1:g.7903C>T, NW_016107299.1:g.68446C>T

Select item 14905993367.

rs1490599336 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 17:7453839 (GRCh38)
17:7357158 (GRCh37)
Canonical SPDI:: NC_000017.11:7453838:T:A,NC_000017.11:7453838:T:C
Gene:: CHRNB1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.7453839T>A, NC_000017.11:g.7453839T>C, NC_000017.10:g.7357158T>A, NC_000017.10:g.7357158T>C, NG_008026.1:g.13753T>A, NG_008026.1:g.13753T>C, NW_016107299.1:g.74296T>A, NW_016107299.1:g.74296T>C

Select item 14903744918.

rs1490374491 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:7440385 (GRCh38)
17:7343704 (GRCh37)
Canonical SPDI:: NC_000017.11:7440384:C:G
Gene:: FGF11 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_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_000017.11:g.7440385C>G, NC_000017.10:g.7343704C>G, NG_008026.1:g.299C>G, NW_016107299.1:g.60842C>G

Select item 14901462469.

rs1490146246 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:7441807 (GRCh38)
17:7345126 (GRCh37)
Canonical SPDI:: NC_000017.11:7441806:T:G
Gene:: FGF11 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.7441807T>G, NC_000017.10:g.7345126T>G, NG_008026.1:g.1721T>G, NW_016107299.1:g.62264T>G, NM_004112.4:c.336T>G, NM_004112.3:c.336T>G, NM_004112.2:c.336T>G, NR_130156.2:n.376T>G, NR_130156.1:n.401T>G, NM_001303460.2:c.159T>G, NM_001303460.1:c.159T>G

Select item 149012108910.

rs1490121089 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:7441886 (GRCh38)
17:7345205 (GRCh37)
Canonical SPDI:: NC_000017.11:7441885:C:A
Gene:: FGF11 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000017.11:g.7441886C>A, NC_000017.10:g.7345205C>A, NG_008026.1:g.1800C>A, NW_016107299.1:g.62343C>A

Select item 149010674511.

rs1490106745 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:7444694 (GRCh38)
17:7348013 (GRCh37)
Canonical SPDI:: NC_000017.11:7444693:G:A
Gene:: CHRNB1 (Varview), FGF11 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.7444694G>A, NC_000017.10:g.7348013G>A, NG_008026.1:g.4608G>A, NW_016107299.1:g.65151G>A, NM_004112.4:c.*1548G>A, NM_004112.3:c.*1548G>A, NM_004112.2:c.*1548G>A, NR_130156.2:n.2266G>A, NR_130156.1:n.2291G>A, NM_001303460.2:c.*1548G>A, NM_001303460.1:c.*1548G>A

Select item 148994683712.

rs1489946837 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:7455499 (GRCh38)
17:7358818 (GRCh37)
Canonical SPDI:: NC_000017.11:7455498:C:T
Gene:: CHRNB1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.7455499C>T, NC_000017.10:g.7358818C>T, NG_008026.1:g.15413C>T, NW_016107299.1:g.75956C>T

Select item 148991199613.

rs1489911996 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:7454579 (GRCh38)
17:7357898 (GRCh37)
Canonical SPDI:: NC_000017.11:7454578:A:G
Gene:: CHRNB1 (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_000017.11:g.7454579A>G, NC_000017.10:g.7357898A>G, NG_008026.1:g.14493A>G, NW_016107299.1:g.75036A>G

Select item 148957251114.

rs1489572511 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 17:7455386 (GRCh38)
17:7358705 (GRCh37)
Canonical SPDI:: NC_000017.11:7455385:T:A
Gene:: CHRNB1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.7455386T>A, NC_000017.10:g.7358705T>A, NG_008026.1:g.15300T>A, NM_000747.3:c.1147T>A, NM_000747.2:c.1147T>A, NW_016107299.1:g.75843T>A, NP_000738.2:p.Trp383Arg

Select item 148956636615.

rs1489566366 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:7447136 (GRCh38)
17:7350455 (GRCh37)
Canonical SPDI:: NC_000017.11:7447135:C:T
Gene:: CHRNB1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000017.11:g.7447136C>T, NC_000017.10:g.7350455C>T, NG_008026.1:g.7050C>T, NM_000747.3:c.447C>T, NM_000747.2:c.447C>T, NW_016107299.1:g.67593C>T

Select item 148930747716.

rs1489307477 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:7451368 (GRCh38)
17:7354687 (GRCh37)
Canonical SPDI:: NC_000017.11:7451367:C:T
Gene:: CHRNB1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
HGVS:: NC_000017.11:g.7451368C>T, NC_000017.10:g.7354687C>T, NG_008026.1:g.11282C>T, NW_016107299.1:g.71825C>T

Select item 148921893817.

rs1489218938 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:7455512 (GRCh38)
17:7358831 (GRCh37)
Canonical SPDI:: NC_000017.11:7455511:A:G
Gene:: CHRNB1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000029/4 (GnomAD)
HGVS:: NC_000017.11:g.7455512A>G, NC_000017.10:g.7358831A>G, NG_008026.1:g.15426A>G, NW_016107299.1:g.75969A>G

Select item 148920681218.

rs1489206812 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:7457658 (GRCh38)
17:7360977 (GRCh37)
Canonical SPDI:: NC_000017.11:7457657:T:C
Gene:: CHRNB1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000017.11:g.7457658T>C, NC_000017.10:g.7360977T>C, NG_008026.1:g.17572T>C, NM_000747.3:c.*935T>C, NW_016107299.1:g.78115T>C

Select item 148910306119.

rs1489103061 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:7440390 (GRCh38)
17:7343709 (GRCh37)
Canonical SPDI:: NC_000017.11:7440389:G:T
Gene:: FGF11 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,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_000017.11:g.7440390G>T, NC_000017.10:g.7343709G>T, NG_008026.1:g.304G>T, NW_016107299.1:g.60847G>T

Select item 148905422420.

rs1489054224 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:7454005 (GRCh38)
17:7357324 (GRCh37)
Canonical SPDI:: NC_000017.11:7454004:G:A
Gene:: CHRNB1 (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_000017.11:g.7454005G>A, NC_000017.10:g.7357324G>A, NG_008026.1:g.13919G>A, NW_016107299.1:g.74462G>A

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