SNP Links for Nucleotide (Select 262206373) - SNP

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Links from Nucleotide

Items: 1 to 20 of 57

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Select item 14846282521.

rs1484628252 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:1022954 (GRCh38)
7:1062590 (GRCh37)
Canonical SPDI:: NC_000007.14:1022953:C:T
Gene:: C7orf50 (Varview), MIR339 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant,upstream_transcript_variant
HGVS:: NC_000007.14:g.1022954C>T, NC_000007.13:g.1062590C>T, NR_029898.1:n.73G>A

Select item 14641944252.

rs1464194425 [Homo sapiens]

Variant type:: DELINS
Alleles:: GCC>- [Show Flanks]
Chromosome:: 7:1023021 (GRCh38)
7:1062657 (GRCh37)
Canonical SPDI:: NC_000007.14:1023017:GCCGCC:GCC
Gene:: C7orf50 (Varview), MIR339 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,upstream_transcript_variant,non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GCCGCC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.1023018GCC[1], NC_000007.13:g.1062654GCC[1], NR_029898.1:n.4GGC[1]

Select item 14418906313.

rs1441890631 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:1023018 (GRCh38)
7:1062654 (GRCh37)
Canonical SPDI:: NC_000007.14:1023017:G:C
Gene:: C7orf50 (Varview), MIR339 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.1023018G>C, NC_000007.13:g.1062654G>C, NR_029898.1:n.9C>G

Select item 14206967074.

rs1420696707 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:1022957 (GRCh38)
7:1062593 (GRCh37)
Canonical SPDI:: NC_000007.14:1022956:G:A
Gene:: C7orf50 (Varview), MIR339 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,genic_upstream_transcript_variant,upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000007.14:g.1022957G>A, NC_000007.13:g.1062593G>A, NR_029898.1:n.70C>T

Select item 13976562455.

rs1397656245 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 7:1022970 (GRCh38)
7:1062606 (GRCh37)
Canonical SPDI:: NC_000007.14:1022969:G:A,NC_000007.14:1022969:G:C
Gene:: C7orf50 (Varview), MIR339 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
A=0.000013/2 (GnomAD_exomes)
HGVS:: NC_000007.14:g.1022970G>A, NC_000007.14:g.1022970G>C, NC_000007.13:g.1062606G>A, NC_000007.13:g.1062606G>C, NR_029898.1:n.57C>T, NR_029898.1:n.57C>G

Select item 13926852466.

rs1392685246 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:1023002 (GRCh38)
7:1062638 (GRCh37)
Canonical SPDI:: NC_000007.14:1023001:G:C
Gene:: C7orf50 (Varview), MIR339 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
C=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.1023002G>C, NC_000007.13:g.1062638G>C, NR_029898.1:n.25C>G

Select item 13898086887.

rs1389808688 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:1022998 (GRCh38)
7:1062634 (GRCh37)
Canonical SPDI:: NC_000007.14:1022997:C:A
Gene:: C7orf50 (Varview), MIR339 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.1022998C>A, NC_000007.13:g.1062634C>A, NR_029898.1:n.29G>T

Select item 13731149588.

rs1373114958 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:1022967 (GRCh38)
7:1062603 (GRCh37)
Canonical SPDI:: NC_000007.14:1022966:C:T
Gene:: C7orf50 (Varview), MIR339 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000038/10 (TOPMED)
T=0.000044/7 (GnomAD_exomes)
HGVS:: NC_000007.14:g.1022967C>T, NC_000007.13:g.1062603C>T, NR_029898.1:n.60G>A

Select item 13500341059.

rs1350034105 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:1022944 (GRCh38)
7:1062580 (GRCh37)
Canonical SPDI:: NC_000007.14:1022943:G:T
Gene:: C7orf50 (Varview), MIR339 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000006/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.1022944G>T, NC_000007.13:g.1062580G>T, NR_029898.1:n.83C>A

Select item 134588133010.

rs1345881330 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:1022988 (GRCh38)
7:1062624 (GRCh37)
Canonical SPDI:: NC_000007.14:1022987:C:T
Gene:: C7orf50 (Varview), MIR339 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
HGVS:: NC_000007.14:g.1022988C>T, NC_000007.13:g.1062624C>T, NR_029898.1:n.39G>A

Select item 133533111011.

rs1335331110 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:1022978 (GRCh38)
7:1062614 (GRCh37)
Canonical SPDI:: NC_000007.14:1022977:C:T
Gene:: C7orf50 (Varview), MIR339 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,genic_downstream_transcript_variant,upstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.1022978C>T, NC_000007.13:g.1062614C>T, NR_029898.1:n.49G>A

Select item 130914164712.

rs1309141647 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:1023024 (GRCh38)
7:1062660 (GRCh37)
Canonical SPDI:: NC_000007.14:1023023:C:A
Gene:: C7orf50 (Varview), MIR339 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,non_coding_transcript_variant,genic_downstream_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_000007.14:g.1023024C>A, NC_000007.13:g.1062660C>A, NR_029898.1:n.3G>T

Select item 130566118713.

rs1305661187 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:1022980 (GRCh38)
7:1062616 (GRCh37)
Canonical SPDI:: NC_000007.14:1022979:G:A
Gene:: C7orf50 (Varview), MIR339 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.1022980G>A, NC_000007.13:g.1062616G>A, NR_029898.1:n.47C>T

Select item 127807425114.

rs1278074251 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:1022942 (GRCh38)
7:1062578 (GRCh37)
Canonical SPDI:: NC_000007.14:1022941:C:G
Gene:: C7orf50 (Varview), MIR339 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.1022942C>G, NC_000007.13:g.1062578C>G, NR_029898.1:n.85G>C

Select item 123534170815.

rs1235341708 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:1022979 (GRCh38)
7:1062615 (GRCh37)
Canonical SPDI:: NC_000007.14:1022978:A:G
Gene:: C7orf50 (Varview), MIR339 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000019/5 (TOPMED)
HGVS:: NC_000007.14:g.1022979A>G, NC_000007.13:g.1062615A>G, NR_029898.1:n.48T>C

Select item 123114807316.

rs1231148073 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 7:1023007 (GRCh38)
7:1062643 (GRCh37)
Canonical SPDI:: NC_000007.14:1023006:C:G,NC_000007.14:1023006:C:T
Gene:: C7orf50 (Varview), MIR339 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.1023007C>G, NC_000007.14:g.1023007C>T, NC_000007.13:g.1062643C>G, NC_000007.13:g.1062643C>T, NR_029898.1:n.20G>C, NR_029898.1:n.20G>A

Select item 121162052617.

rs1211620526 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:1022951 (GRCh38)
7:1062587 (GRCh37)
Canonical SPDI:: NC_000007.14:1022950:G:T
Gene:: C7orf50 (Varview), MIR339 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant,upstream_transcript_variant
HGVS:: NC_000007.14:g.1022951G>T, NC_000007.13:g.1062587G>T, NR_029898.1:n.76C>A

Select item 119516123418.

rs1195161234 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:1023001 (GRCh38)
7:1062637 (GRCh37)
Canonical SPDI:: NC_000007.14:1023000:G:A
Gene:: C7orf50 (Varview), MIR339 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.1023001G>A, NC_000007.13:g.1062637G>A, NR_029898.1:n.26C>T

Select item 119379149319.

rs1193791493 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:1022993 (GRCh38)
7:1062629 (GRCh37)
Canonical SPDI:: NC_000007.14:1022992:G:A
Gene:: C7orf50 (Varview), MIR339 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.1022993G>A, NC_000007.13:g.1062629G>A, NR_029898.1:n.34C>T

Select item 117920711520.

rs1179207115 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:1022958 (GRCh38)
7:1062594 (GRCh37)
Canonical SPDI:: NC_000007.14:1022957:C:A
Gene:: C7orf50 (Varview), MIR339 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,upstream_transcript_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_000007.14:g.1022958C>A, NC_000007.13:g.1062594C>A, NR_029898.1:n.69G>T

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