SNP Links for Nucleotide (Select 337756797) - SNP

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Links from Nucleotide

Items: 20

Select item 14077721581.

rs1407772158 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:116560036 (GRCh38)
1:117102658 (GRCh37)
Canonical SPDI:: NC_000001.11:116560035:T:C
Gene:: CD58 (Varview), MIR548AC (Varview), LOC105378925 (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)
HGVS:: NC_000001.11:g.116560036T>C, NC_000001.10:g.117102658T>C, XR_947739.2:n.9859T>C, NR_039621.1:n.76A>G

Select item 13924464442.

rs1392446444 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 1:116560054 (GRCh38)
1:117102676 (GRCh37)
Canonical SPDI:: NC_000001.11:116560053:T:C,NC_000001.11:116560053:T:G
Gene:: CD58 (Varview), MIR548AC (Varview), LOC105378925 (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)
C=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.116560054T>C, NC_000001.11:g.116560054T>G, NC_000001.10:g.117102676T>C, NC_000001.10:g.117102676T>G, XR_947739.2:n.9877T>C, XR_947739.2:n.9877T>G, NR_039621.1:n.58A>G, NR_039621.1:n.58A>C

Select item 13360876703.

rs1336087670 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:116560035 (GRCh38)
1:117102657 (GRCh37)
Canonical SPDI:: NC_000001.11:116560034:G:A
Gene:: CD58 (Varview), MIR548AC (Varview), LOC105378925 (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_000001.11:g.116560035G>A, NC_000001.10:g.117102657G>A, XR_947739.2:n.9858G>A, NR_039621.1:n.77C>T

Select item 13262346654.

rs1326234665 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 1:116560054 (GRCh38)
1:117102676 (GRCh37)
Canonical SPDI:: NC_000001.11:116560053:TTTTT:TTTT
Gene:: CD58 (Varview), MIR548AC (Varview), LOC105378925 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
HGVS:: NC_000001.11:g.116560058del, NC_000001.10:g.117102680del, XR_947739.2:n.9881del, NR_039621.1:n.58del

Select item 13145881215.

rs1314588121 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:116560092 (GRCh38)
1:117102714 (GRCh37)
Canonical SPDI:: NC_000001.11:116560091:C:T
Gene:: CD58 (Varview), MIR548AC (Varview), LOC105378925 (Varview)
Functional Consequence:: non_coding_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_000001.11:g.116560092C>T, NC_000001.10:g.117102714C>T, XR_947739.2:n.9915C>T, NR_039621.1:n.20G>A

Select item 12061754026.

rs1206175402 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:116560104 (GRCh38)
1:117102726 (GRCh37)
Canonical SPDI:: NC_000001.11:116560103:C:T
Gene:: CD58 (Varview), MIR548AC (Varview), LOC105378925 (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)
T=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.116560104C>T, NC_000001.10:g.117102726C>T, XR_947739.2:n.9927C>T, NR_039621.1:n.8G>A

Select item 11820741107.

rs1182074110 [Homo sapiens]

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

Select item 9933909108.

rs993390910 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:116560051 (GRCh38)
1:117102673 (GRCh37)
Canonical SPDI:: NC_000001.11:116560050:C:T
Gene:: CD58 (Varview), MIR548AC (Varview), LOC105378925 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000214/3 (ALFA)
T=0.000128/34 (TOPMED)
T=0.000157/22 (GnomAD)
HGVS:: NC_000001.11:g.116560051C>T, NC_000001.10:g.117102673C>T, XR_947739.2:n.9874C>T, NR_039621.1:n.61G>A

Select item 9773934729.

rs977393472 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:116560111 (GRCh38)
1:117102733 (GRCh37)
Canonical SPDI:: NC_000001.11:116560110:C:G
Gene:: CD58 (Varview), MIR548AC (Varview), LOC105378925 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000001.11:g.116560111C>G, NC_000001.10:g.117102733C>G, XR_947739.2:n.9934C>G, NR_039621.1:n.1G>C

Select item 96943869710.

rs969438697 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:116560085 (GRCh38)
1:117102707 (GRCh37)
Canonical SPDI:: NC_000001.11:116560084:A:G
Gene:: CD58 (Varview), MIR548AC (Varview), LOC105378925 (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_000001.11:g.116560085A>G, NC_000001.10:g.117102707A>G, XR_947739.2:n.9908A>G, NR_039621.1:n.27T>C

Select item 96757858311.

rs967578583 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:116560082 (GRCh38)
1:117102704 (GRCh37)
Canonical SPDI:: NC_000001.11:116560081:A:G
Gene:: CD58 (Varview), MIR548AC (Varview), LOC105378925 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
HGVS:: NC_000001.11:g.116560082A>G, NC_000001.10:g.117102704A>G, XR_947739.2:n.9905A>G, NR_039621.1:n.30T>C

Select item 94288348812.

rs942883488 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:116560034 (GRCh38)
1:117102656 (GRCh37)
Canonical SPDI:: NC_000001.11:116560033:A:G
Gene:: CD58 (Varview), MIR548AC (Varview), LOC105378925 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.116560034A>G, NC_000001.10:g.117102656A>G, XR_947739.2:n.9857A>G, NR_039621.1:n.78T>C

Select item 91751039713.

rs917510397 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:116560069 (GRCh38)
1:117102691 (GRCh37)
Canonical SPDI:: NC_000001.11:116560068:A:C
Gene:: CD58 (Varview), MIR548AC (Varview), LOC105378925 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000498/7 (ALFA)
C=0.000035/1 (TOMMO)
C=0.000563/79 (GnomAD)
C=0.000733/194 (TOPMED)
HGVS:: NC_000001.11:g.116560069A>C, NC_000001.10:g.117102691A>C, XR_947739.2:n.9892A>C, NR_039621.1:n.43T>G

Select item 90145036314.

rs901450363 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:116560047 (GRCh38)
1:117102669 (GRCh37)
Canonical SPDI:: NC_000001.11:116560046:T:C
Gene:: CD58 (Varview), MIR548AC (Varview), LOC105378925 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.116560047T>C, NC_000001.10:g.117102669T>C, XR_947739.2:n.9870T>C, NR_039621.1:n.65A>G

Select item 88712324315.

rs887123243 has merged into rs878900399 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA [Show Flanks]
Chromosome:: 1:116560072 (GRCh38)
1:117102694 (GRCh37)
Canonical SPDI:: NC_000001.11:116560064:AAAAAAAAA:AAAAAAA,NC_000001.11:116560064:AAAAAAAAA:AAAAAAAA,NC_000001.11:116560064:AAAAAAAAA:AAAAAAAAAA,NC_000001.11:116560064:AAAAAAAAA:AAAAAAAAAAA
Gene:: CD58 (Varview), MIR548AC (Varview), LOC105378925 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
A=0.00234/15 (1000Genomes)
A=0.02381/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.116560072_116560073del, NC_000001.11:g.116560073del, NC_000001.11:g.116560073dup, NC_000001.11:g.116560072_116560073dup, NC_000001.10:g.117102694_117102695del, NC_000001.10:g.117102695del, NC_000001.10:g.117102695dup, NC_000001.10:g.117102694_117102695dup, XR_947739.2:n.9895_9896del, XR_947739.2:n.9896del, XR_947739.2:n.9896dup, XR_947739.2:n.9895_9896dup, NR_039621.1:n.46_47del, NR_039621.1:n.47del, NR_039621.1:n.47dup, NR_039621.1:n.46_47dup

Select item 87890039916.

rs878900399 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA [Show Flanks]
Chromosome:: 1:116560072 (GRCh38)
1:117102694 (GRCh37)
Canonical SPDI:: NC_000001.11:116560064:AAAAAAAAA:AAAAAAA,NC_000001.11:116560064:AAAAAAAAA:AAAAAAAA,NC_000001.11:116560064:AAAAAAAAA:AAAAAAAAAA,NC_000001.11:116560064:AAAAAAAAA:AAAAAAAAAAA
Gene:: CD58 (Varview), MIR548AC (Varview), LOC105378925 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
A=0.00234/15 (1000Genomes)
A=0.02381/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.116560072_116560073del, NC_000001.11:g.116560073del, NC_000001.11:g.116560073dup, NC_000001.11:g.116560072_116560073dup, NC_000001.10:g.117102694_117102695del, NC_000001.10:g.117102695del, NC_000001.10:g.117102695dup, NC_000001.10:g.117102694_117102695dup, XR_947739.2:n.9895_9896del, XR_947739.2:n.9896del, XR_947739.2:n.9896dup, XR_947739.2:n.9895_9896dup, NR_039621.1:n.46_47del, NR_039621.1:n.47del, NR_039621.1:n.47dup, NR_039621.1:n.46_47dup

Select item 57799113817.

rs577991138 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:116560074 (GRCh38)
1:117102696 (GRCh37)
Canonical SPDI:: NC_000001.11:116560073:T:A
Gene:: CD58 (Varview), MIR548AC (Varview), LOC105378925 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
A=0.000021/3 (GnomAD)
A=0.001797/9 (1000Genomes)
HGVS:: NC_000001.11:g.116560074T>A, NC_000001.10:g.117102696T>A, XR_947739.2:n.9897T>A, NR_039621.1:n.38A>T

Select item 55657986318.

rs556579863 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:116560052 (GRCh38)
1:117102674 (GRCh37)
Canonical SPDI:: NC_000001.11:116560051:G:A,NC_000001.11:116560051:G:C
Gene:: CD58 (Varview), MIR548AC (Varview), LOC105378925 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000021/3 (GnomAD)
A=0.000023/6 (TOPMED)
A=0.000156/1 (1000Genomes)
HGVS:: NC_000001.11:g.116560052G>A, NC_000001.11:g.116560052G>C, NC_000001.10:g.117102674G>A, NC_000001.10:g.117102674G>C, XR_947739.2:n.9875G>A, XR_947739.2:n.9875G>C, NR_039621.1:n.60C>T, NR_039621.1:n.60C>G

Select item 53855330619.

rs538553306 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:116560038 (GRCh38)
1:117102660 (GRCh37)
Canonical SPDI:: NC_000001.11:116560037:C:T
Gene:: CD58 (Varview), MIR548AC (Varview), LOC105378925 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000222/31 (GnomAD)
T=0.000253/67 (TOPMED)
T=0.000312/2 (1000Genomes)
HGVS:: NC_000001.11:g.116560038C>T, NC_000001.10:g.117102660C>T, XR_947739.2:n.9861C>T, NR_039621.1:n.74G>A

Select item 141427320.

rs1414273 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:116560027 (GRCh38)
1:117102649 (GRCh37)
Canonical SPDI:: NC_000001.11:116560026:C:G,NC_000001.11:116560026:C:T
Gene:: CD58 (Varview), MIR548AC (Varview), LOC105378925 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.196665/3715 (ALFA)
T=0.114228/114 (GoNL)
T=0.116295/521 (Estonian)
T=0.124027/478 (ALSPAC)
T=0.127562/473 (TWINSUK)
T=0.138333/83 (NorthernSweden)
T=0.152174/7 (GnomAD_exomes)
T=0.175/7 (GENOME_DK)
T=0.226852/49 (Qatari)
T=0.270962/37880 (GnomAD)
T=0.29298/77549 (TOPMED)
C=0.308383/103 (SGDP_PRJ)
C=0.35917/658 (Korea1K)
C=0.366667/11 (Siberian)
C=0.37372/1095 (KOREAN)
C=0.388979/6519 (TOMMO)
C=0.415094/88 (Vietnamese)
T=0.421455/2111 (1000Genomes)
C=0.5/1 (ExAC)
HGVS:: NC_000001.11:g.116560027C>G, NC_000001.11:g.116560027C>T, NC_000001.10:g.117102649C>G, NC_000001.10:g.117102649C>T, XR_947739.2:n.9850C>G, XR_947739.2:n.9850C>T, NR_039621.1:n.85G>C, NR_039621.1:n.85G>A