SNP Links for Nucleotide (Select 571330830) - SNP

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Links from Nucleotide

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Select item 14891425931.

rs1489142593 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:136861855 (GRCh38)
3:136580697 (GRCh37)
Canonical SPDI:: NC_000003.12:136861854:G:T
Gene:: NCK1 (Varview), NCK1-DT (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000003.12:g.136861855G>T, NC_000003.11:g.136580697G>T, NR_110176.1:n.209C>A, NR_110175.1:n.209C>A, NR_110177.1:n.209C>A

Select item 14886872992.

rs1488687299 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:136861950 (GRCh38)
3:136580792 (GRCh37)
Canonical SPDI:: NC_000003.12:136861949:A:G
Gene:: NCK1 (Varview), NCK1-DT (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.136861950A>G, NC_000003.11:g.136580792A>G, NR_110176.1:n.114T>C, NR_110175.1:n.114T>C, NR_110177.1:n.114T>C

Select item 14858034783.

rs1485803478 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:136861644 (GRCh38)
3:136580486 (GRCh37)
Canonical SPDI:: NC_000003.12:136861643:A:G
Gene:: NCK1 (Varview), NCK1-DT (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000224/1 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000003.12:g.136861644A>G, NC_000003.11:g.136580486A>G, NR_110176.1:n.420T>C

Select item 14816467694.

rs1481646769 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:136842164 (GRCh38)
3:136561006 (GRCh37)
Canonical SPDI:: NC_000003.12:136842163:G:A
Gene:: SLC35G2 (Varview), NCK1-DT (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.0004/2 (ALFA)
A=0.0002/1 (Estonian)
HGVS:: NC_000003.12:g.136842164G>A, NC_000003.11:g.136561006G>A, NR_110176.1:n.914C>T, NR_110175.1:n.868C>T, NR_110177.1:n.782C>T

Select item 14810422945.

rs1481042294 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:136842231 (GRCh38)
3:136561073 (GRCh37)
Canonical SPDI:: NC_000003.12:136842230:C:T
Gene:: SLC35G2 (Varview), NCK1-DT (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000003.12:g.136842231C>T, NC_000003.11:g.136561073C>T, NR_110176.1:n.847G>A, NR_110175.1:n.801G>A, NR_110177.1:n.715G>A

Select item 14800794816.

rs1480079481 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 3:136861882 (GRCh38)
3:136580724 (GRCh37)
Canonical SPDI:: NC_000003.12:136861881:T:A
Gene:: NCK1 (Varview), NCK1-DT (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000117/31 (TOPMED)
A=0.000157/22 (GnomAD)
HGVS:: NC_000003.12:g.136861882T>A, NC_000003.11:g.136580724T>A, NR_110176.1:n.182A>T, NR_110175.1:n.182A>T, NR_110177.1:n.182A>T

Select item 14792548617.

rs1479254861 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 3:136842309 (GRCh38)
3:136561151 (GRCh37)
Canonical SPDI:: NC_000003.12:136842307:AAA:A
Gene:: SLC35G2 (Varview), NCK1-DT (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000546/1 (Korea1K)
HGVS:: NC_000003.12:g.136842309_136842310del, NC_000003.11:g.136561151_136561152del, NR_110176.1:n.769_770del, NR_110175.1:n.723_724del, NR_110177.1:n.637_638del

Select item 14787376178.

rs1478737617 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:136861935 (GRCh38)
3:136580777 (GRCh37)
Canonical SPDI:: NC_000003.12:136861934:A:G
Gene:: NCK1 (Varview), NCK1-DT (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_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_000003.12:g.136861935A>G, NC_000003.11:g.136580777A>G, NR_110176.1:n.129T>C, NR_110175.1:n.129T>C, NR_110177.1:n.129T>C

Select item 14751361609.

rs1475136160 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 3:136861837 (GRCh38)
3:136580679 (GRCh37)
Canonical SPDI:: NC_000003.12:136861836:C:A,NC_000003.12:136861836:C:T
Gene:: NCK1 (Varview), NCK1-DT (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000003.12:g.136861837C>A, NC_000003.12:g.136861837C>T, NC_000003.11:g.136580679C>A, NC_000003.11:g.136580679C>T, NR_110176.1:n.227G>T, NR_110176.1:n.227G>A, NR_110175.1:n.227G>T, NR_110175.1:n.227G>A, NR_110177.1:n.227G>T, NR_110177.1:n.227G>A

Select item 147496523310.

rs1474965233 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 3:136842503 (GRCh38)
3:136561346 (GRCh37)
Canonical SPDI:: NC_000003.12:136842503:CC:CCC
Gene:: SLC35G2 (Varview), NCK1-DT (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCC=0./0 (ALFA)
C=0.000021/3 (GnomAD)
C=0.000026/7 (TOPMED)
HGVS:: NC_000003.12:g.136842505dup, NC_000003.11:g.136561347dup, NR_110176.1:n.574dup, NR_110175.1:n.528dup, NR_110177.1:n.442dup

Select item 146924886811.

rs1469248868 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:136842320 (GRCh38)
3:136561162 (GRCh37)
Canonical SPDI:: NC_000003.12:136842319:G:A
Gene:: SLC35G2 (Varview), NCK1-DT (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.136842320G>A, NC_000003.11:g.136561162G>A, NR_110176.1:n.758C>T, NR_110175.1:n.712C>T, NR_110177.1:n.626C>T

Select item 146747645212.

rs1467476452 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 3:136842104 (GRCh38)
3:136560946 (GRCh37)
Canonical SPDI:: NC_000003.12:136842103:T:
Gene:: SLC35G2 (Varview), NCK1-DT (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.136842104del, NC_000003.11:g.136560946del, NR_110176.1:n.974del, NR_110175.1:n.928del, NR_110177.1:n.842del

Select item 146684773313.

rs1466847733 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:136841978 (GRCh38)
3:136560820 (GRCh37)
Canonical SPDI:: NC_000003.12:136841977:A:G
Gene:: SLC35G2 (Varview), NCK1-DT (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.136841978A>G, NC_000003.11:g.136560820A>G, NR_110176.1:n.1100T>C, NR_110175.1:n.1054T>C, NR_110177.1:n.968T>C

Select item 146300597214.

rs1463005972 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:136842510 (GRCh38)
3:136561352 (GRCh37)
Canonical SPDI:: NC_000003.12:136842509:T:G
Gene:: SLC35G2 (Varview), NCK1-DT (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
G=0.000546/1 (Korea1K)
HGVS:: NC_000003.12:g.136842510T>G, NC_000003.11:g.136561352T>G, NR_110176.1:n.568A>C, NR_110175.1:n.522A>C, NR_110177.1:n.436A>C

Select item 145922508915.

rs1459225089 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:136861640 (GRCh38)
3:136580482 (GRCh37)
Canonical SPDI:: NC_000003.12:136861639:C:T
Gene:: NCK1 (Varview), NCK1-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000003.12:g.136861640C>T, NC_000003.11:g.136580482C>T, NR_110176.1:n.424G>A

Select item 145590370716.

rs1455903707 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:136842220 (GRCh38)
3:136561062 (GRCh37)
Canonical SPDI:: NC_000003.12:136842219:A:G
Gene:: SLC35G2 (Varview), NCK1-DT (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,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_000003.12:g.136842220A>G, NC_000003.11:g.136561062A>G, NR_110176.1:n.858T>C, NR_110175.1:n.812T>C, NR_110177.1:n.726T>C

Select item 145499701117.

rs1454997011 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 3:136842180 (GRCh38)
3:136561023 (GRCh37)
Canonical SPDI:: NC_000003.12:136842180:T:TT
Gene:: SLC35G2 (Varview), NCK1-DT (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TT=0.00007/1 (ALFA)
T=0.00022/1 (Estonian)
HGVS:: NC_000003.12:g.136842181dup, NC_000003.11:g.136561023dup, NR_110176.1:n.897dup, NR_110175.1:n.851dup, NR_110177.1:n.765dup

Select item 145479913018.

rs1454799130 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 3:136842483 (GRCh38)
3:136561325 (GRCh37)
Canonical SPDI:: NC_000003.12:136842482:A:C
Gene:: SLC35G2 (Varview), NCK1-DT (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000019/5 (TOPMED)
C=0.000043/6 (GnomAD)
HGVS:: NC_000003.12:g.136842483A>C, NC_000003.11:g.136561325A>C, NR_110176.1:n.595T>G, NR_110175.1:n.549T>G, NR_110177.1:n.463T>G

Select item 145390026919.

rs1453900269 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:136842212 (GRCh38)
3:136561054 (GRCh37)
Canonical SPDI:: NC_000003.12:136842211:A:G
Gene:: SLC35G2 (Varview), NCK1-DT (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.136842212A>G, NC_000003.11:g.136561054A>G, NR_110176.1:n.866T>C, NR_110175.1:n.820T>C, NR_110177.1:n.734T>C

Select item 145119826220.

rs1451198262 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:136861707 (GRCh38)
3:136580549 (GRCh37)
Canonical SPDI:: NC_000003.12:136861706:C:G
Gene:: NCK1 (Varview), NCK1-DT (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000023/6 (TOPMED)
HGVS:: NC_000003.12:g.136861707C>G, NC_000003.11:g.136580549C>G, NR_110176.1:n.357G>C