SNP Links for Nucleotide (Select 568815453) - SNP

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Items: 1 to 20 of 38793

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Select item 14914103171.

rs1491410317 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 7:191992 (GRCh38)
7:191992 (GRCh37)
Canonical SPDI:: NC_000007.14:191991:GA:
Gene:: FAM20C (Varview), LOC124901808 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.017198/204 (ALFA)
-=0.00108/16 (TOMMO)
-=0.011667/7 (NorthernSweden)
-=0.02406/2511 (GnomAD)
HGVS:: NC_000007.14:g.191992_191993del, NC_000007.13:g.191992_191993del, NG_033970.2:g.4423_4424del, NG_033970.1:g.4024_4025del, NW_021159998.1:g.167680_167681del, NT_187653.1:g.184313_184314del, NT_187558.1:g.151396_151397del

Select item 14913933862.

rs1491393386 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TTTTCAGTG [Show Flanks]
Chromosome:: 7:127877 (GRCh38)
7:127878 (GRCh37)
Canonical SPDI:: NC_000007.14:127877:TGTTTTCAGTG:TGTTTTCAGTGTTTTCAGTG
Validated:: by frequency,by alfa,by cluster
MAF:: TGTTTTCAGTGTTTTCAGTG=0./0 (ALFA)
TGTTTTCAG=0.000004/1 (TOPMED)
TGTTTTCAG=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.127880_127888dup, NC_000007.13:g.127880_127888dup, NW_021159998.1:g.103568_103576dup, NT_187653.1:g.120201_120209dup, NT_187558.1:g.83802_83810dup

Select item 14912569433.

rs1491256943 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CG [Show Flanks]
Chromosome:: 7:191981 (GRCh38)
7:191982 (GRCh37)
Canonical SPDI:: NC_000007.14:191981:G:GCG
Gene:: FAM20C (Varview), LOC124901808 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GCG=0./0 (ALFA)
GC=0.00389/297 (GnomAD)
HGVS:: NC_000007.14:g.191982_191983insCG, NC_000007.13:g.191982_191983insCG, NG_033970.2:g.4413_4414insCG, NG_033970.1:g.4014_4015insCG, NW_021159998.1:g.167670_167671insCG, NT_187653.1:g.184303_184304insCG, NT_187558.1:g.151386_151387insCG

Select item 14911892324.

rs1491189232 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 7:127877 (GRCh38)
7:127877 (GRCh37)
Canonical SPDI:: NC_000007.14:127876:AT:
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000026/7 (TOPMED)
-=0.000071/10 (GnomAD)
HGVS:: NC_000007.14:g.127877_127878del, NC_000007.13:g.127877_127878del, NW_021159998.1:g.103565_103566del, NT_187653.1:g.120198_120199del, NT_187558.1:g.83799_83800del

Select item 14911805675.

rs1491180567 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 7:191992 (GRCh38)
7:191993 (GRCh37)
Canonical SPDI:: NC_000007.14:191992:A:AA
Gene:: FAM20C (Varview), LOC124901808 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.191993dup, NC_000007.13:g.191993dup, NG_033970.2:g.4424dup, NG_033970.1:g.4025dup, NW_021159998.1:g.167681dup, NT_187653.1:g.184314dup, NT_187558.1:g.151397dup

Select item 14911801676.

rs1491180167 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 7:49852 (GRCh38)
7:49852 (GRCh37)
Canonical SPDI:: NC_000007.14:49851:TA:
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000084/1 (ALFA)
-=0.000039/5 (GnomAD)
HGVS:: NC_000007.14:g.49852_49853del, NC_000007.13:g.49852_49853del, NW_021159998.1:g.25540_25541del, NT_187653.1:g.42173_42174del, NT_187558.1:g.5951_5952del

Select item 14911462897.

rs1491146289 has merged into rs1265256864 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGGG>-,G,GG,GGG,GGGGG,GGGGGG,GGGGGGG [Show Flanks]
Chromosome:: 7:191989 (GRCh38)
7:191989 (GRCh37)
Canonical SPDI:: NC_000007.14:191980:GGGGGGGGGGGG:GGGGGGGG,NC_000007.14:191980:GGGGGGGGGGGG:GGGGGGGGG,NC_000007.14:191980:GGGGGGGGGGGG:GGGGGGGGGG,NC_000007.14:191980:GGGGGGGGGGGG:GGGGGGGGGGG,NC_000007.14:191980:GGGGGGGGGGGG:GGGGGGGGGGGGG,NC_000007.14:191980:GGGGGGGGGGGG:GGGGGGGGGGGGGG,NC_000007.14:191980:GGGGGGGGGGGG:GGGGGGGGGGGGGGG
Gene:: FAM20C (Varview), LOC124901808 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGGGG=0./0 (ALFA)
HGVS:: NC_000007.14:g.191989_191992del, NC_000007.14:g.191990_191992del, NC_000007.14:g.191991_191992del, NC_000007.14:g.191992del, NC_000007.14:g.191992dup, NC_000007.14:g.191991_191992dup, NC_000007.14:g.191990_191992dup, NC_000007.13:g.191989_191992del, NC_000007.13:g.191990_191992del, NC_000007.13:g.191991_191992del, NC_000007.13:g.191992del, NC_000007.13:g.191992dup, NC_000007.13:g.191991_191992dup, NC_000007.13:g.191990_191992dup, NG_033970.2:g.4420_4423del, NG_033970.2:g.4421_4423del, NG_033970.2:g.4422_4423del, NG_033970.2:g.4423del, NG_033970.2:g.4423dup, NG_033970.2:g.4422_4423dup, NG_033970.2:g.4421_4423dup, NG_033970.1:g.4021_4024del, NG_033970.1:g.4022_4024del, NG_033970.1:g.4023_4024del, NG_033970.1:g.4024del, NG_033970.1:g.4024dup, NG_033970.1:g.4023_4024dup, NG_033970.1:g.4022_4024dup, NW_021159998.1:g.167677_167680del, NW_021159998.1:g.167678_167680del, NW_021159998.1:g.167679_167680del, NW_021159998.1:g.167680del, NW_021159998.1:g.167680dup, NW_021159998.1:g.167679_167680dup, NW_021159998.1:g.167678_167680dup, NT_187653.1:g.184310_184313del, NT_187653.1:g.184311_184313del, NT_187653.1:g.184312_184313del, NT_187653.1:g.184313del, NT_187653.1:g.184313dup, NT_187653.1:g.184312_184313dup, NT_187653.1:g.184311_184313dup, NT_187558.1:g.151393_151396del, NT_187558.1:g.151394_151396del, NT_187558.1:g.151395_151396del, NT_187558.1:g.151396del, NT_187558.1:g.151396dup, NT_187558.1:g.151395_151396dup, NT_187558.1:g.151394_151396dup

Select item 14911240788.

rs1491124078 has merged into rs35756454 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,AAA,AAAA,AAAAA,AAAAAAA [Show Flanks]
Chromosome:: 7:49860 (GRCh38)
7:49860 (GRCh37)
Canonical SPDI:: NC_000007.14:49852:AAAAAAAAAAAAA:AAAAAAA,NC_000007.14:49852:AAAAAAAAAAAAA:AAAAAAAAAA,NC_000007.14:49852:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000007.14:49852:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000007.14:49852:AAAAAAAAAAAAA:AAAAAAAAAAAAAA
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
-=0.01672/62 (TWINSUK)
-=0.02387/92 (ALSPAC)
HGVS:: NC_000007.14:g.49860_49865del, NC_000007.14:g.49863_49865del, NC_000007.14:g.49864_49865del, NC_000007.14:g.49865del, NC_000007.14:g.49865dup, NC_000007.13:g.49860_49865del, NC_000007.13:g.49863_49865del, NC_000007.13:g.49864_49865del, NC_000007.13:g.49865del, NC_000007.13:g.49865dup, NW_021159998.1:g.25548_25553del, NW_021159998.1:g.25551_25553del, NW_021159998.1:g.25552_25553del, NW_021159998.1:g.25553del, NW_021159998.1:g.25553dup, NT_187653.1:g.42181_42186del, NT_187653.1:g.42184_42186del, NT_187653.1:g.42185_42186del, NT_187653.1:g.42186del, NT_187653.1:g.42186dup, NT_187558.1:g.5959_5964del, NT_187558.1:g.5962_5964del, NT_187558.1:g.5963_5964del, NT_187558.1:g.5964del, NT_187558.1:g.5964dup

Select item 14910497829.

rs1491049782 has merged into rs35601110 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA [Show Flanks]
Chromosome:: 7:115195 (GRCh38)
7:115195 (GRCh37)
Canonical SPDI:: NC_000007.14:115184:AAAAAAAAAAAAA:AAAAAAAAAA,NC_000007.14:115184:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000007.14:115184:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000007.14:115184:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:115184:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA
Gene:: LOC105375114 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0.0001/1 (ALFA)
-=0.3213/187 (NorthernSweden)
-=0.35/14 (GENOME_DK)
-=0.3892/1500 (ALSPAC)
-=0.4037/1497 (TWINSUK)
HGVS:: NC_000007.14:g.115195_115197del, NC_000007.14:g.115196_115197del, NC_000007.14:g.115197del, NC_000007.14:g.115197dup, NC_000007.14:g.115196_115197dup, NC_000007.13:g.115195_115197del, NC_000007.13:g.115196_115197del, NC_000007.13:g.115197del, NC_000007.13:g.115197dup, NC_000007.13:g.115196_115197dup, NW_021159998.1:g.90883_90885del, NW_021159998.1:g.90884_90885del, NW_021159998.1:g.90885del, NW_021159998.1:g.90885dup, NW_021159998.1:g.90884_90885dup, NT_187653.1:g.107516_107518del, NT_187653.1:g.107517_107518del, NT_187653.1:g.107518del, NT_187653.1:g.107518dup, NT_187653.1:g.107517_107518dup, NT_187558.1:g.70952_70954del, NT_187558.1:g.70953_70954del, NT_187558.1:g.70954del, NT_187558.1:g.70954dup, NT_187558.1:g.70953_70954dup, XR_926959.3:n.1500_1502del, XR_926959.3:n.1501_1502del, XR_926959.3:n.1502del, XR_926959.3:n.1502dup, XR_926959.3:n.1501_1502dup, XR_926959.2:n.3533_3535del, XR_926959.2:n.3534_3535del, XR_926959.2:n.3535del, XR_926959.2:n.3535dup, XR_926959.2:n.3534_3535dup, XR_926959.1:n.1382_1384del, XR_926959.1:n.1383_1384del, XR_926959.1:n.1384del, XR_926959.1:n.1384dup, XR_926959.1:n.1383_1384dup, XR_952314.3:n.1500_1502del, XR_952314.3:n.1501_1502del, XR_952314.3:n.1502del, XR_952314.3:n.1502dup, XR_952314.3:n.1501_1502dup, XR_952314.2:n.3533_3535del, XR_952314.2:n.3534_3535del, XR_952314.2:n.3535del, XR_952314.2:n.3535dup, XR_952314.2:n.3534_3535dup, XR_952314.1:n.1382_1384del, XR_952314.1:n.1383_1384del, XR_952314.1:n.1384del, XR_952314.1:n.1384dup, XR_952314.1:n.1383_1384dup, XR_007069132.1:n.1500_1502del, XR_007069132.1:n.1501_1502del, XR_007069132.1:n.1502del, XR_007069132.1:n.1502dup, XR_007069132.1:n.1501_1502dup

Select item 149103086010.

rs1491030860 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GC [Show Flanks]
Chromosome:: 7:176197 (GRCh38)
7:176198 (GRCh37)
Canonical SPDI:: NC_000007.14:176197:GC:GCGC
Gene:: LOC105375115 (Varview), LOC105375116 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: GCGC=0./0 (ALFA)
GC=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.176198_176199dup, NC_000007.13:g.176198_176199dup, NW_021159998.1:g.151886_151887dup, NT_187653.1:g.168519_168520dup, NT_187558.1:g.135602_135603dup, XM_017012903.3:c.-803_-802dup, XM_017012903.2:c.-803_-802dup, XM_017012903.1:c.-803_-802dup

Select item 149099023711.

rs1490990237 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 7:161074 (GRCh38)
7:161074 (GRCh37)
Canonical SPDI:: NC_000007.14:161073:C:A,NC_000007.14:161073:C:T
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000009/1 (GnomAD)
HGVS:: NC_000007.14:g.161074C>A, NC_000007.14:g.161074C>T, NC_000007.13:g.161074C>A, NC_000007.13:g.161074C>T, NW_021159998.1:g.136762C>A, NW_021159998.1:g.136762C>T, NT_187653.1:g.153395C>A, NT_187653.1:g.153395C>T, NT_187558.1:g.120421C>A, NT_187558.1:g.120421C>T

Select item 149096656312.

rs1490966563 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 7:69484 (GRCh38)
7:69484 (GRCh37)
Canonical SPDI:: NC_000007.14:69483:T:A
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000007.14:g.69484T>A, NC_000007.13:g.69484T>A, NW_021159998.1:g.45172T>A, NT_187653.1:g.61805T>A, NT_187558.1:g.25583T>A

Select item 149094508713.

rs1490945087 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 7:197575 (GRCh38)
7:197575 (GRCh37)
Canonical SPDI:: NC_000007.14:197574:G:A,NC_000007.14:197574:G:C
Gene:: FAM20C (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000007.14:g.197575G>A, NC_000007.14:g.197575G>C, NC_000007.13:g.197575G>A, NC_000007.13:g.197575G>C, NG_033970.2:g.10006G>A, NG_033970.2:g.10006G>C, NG_033970.1:g.9607G>A, NG_033970.1:g.9607G>C, NW_021159998.1:g.173263G>A, NW_021159998.1:g.173263G>C, NT_187653.1:g.189896G>A, NT_187653.1:g.189896G>C, NT_187558.1:g.156979G>A, NT_187558.1:g.156979G>C, XM_047420625.1:c.*75G>A, XM_047420625.1:c.*75G>C

Select item 149090472614.

rs1490904726 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 7:97871 (GRCh38)
7:97871 (GRCh37)
Canonical SPDI:: NC_000007.14:97870:C:G,NC_000007.14:97870:C:T
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000007.14:g.97871C>G, NC_000007.14:g.97871C>T, NC_000007.13:g.97871C>G, NC_000007.13:g.97871C>T, NW_021159998.1:g.73559C>G, NW_021159998.1:g.73559C>T, NT_187653.1:g.90192C>G, NT_187653.1:g.90192C>T, NT_187558.1:g.53970C>G, NT_187558.1:g.53970C>T

Select item 149090077015.

rs1490900770 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:86784 (GRCh38)
7:86784 (GRCh37)
Canonical SPDI:: NC_000007.14:86783:G:A
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.86784G>A, NC_000007.13:g.86784G>A, NW_021159998.1:g.62472G>A, NT_187653.1:g.79105G>A, NT_187558.1:g.42883G>A

Select item 149089107616.

rs1490891076 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:171861 (GRCh38)
7:171861 (GRCh37)
Canonical SPDI:: NC_000007.14:171860:G:T
Gene:: LOC105375116 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
HGVS:: NC_000007.14:g.171861G>T, NC_000007.13:g.171861G>T, NW_021159998.1:g.147549G>T, NT_187653.1:g.164182G>T, NT_187558.1:g.131265G>T

Select item 149089043317.

rs1490890433 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAT>- [Show Flanks]
Chromosome:: 7:98850 (GRCh38)
7:98850 (GRCh37)
Canonical SPDI:: NC_000007.14:98847:ATAAT:AT
Validated:: by frequency,by alfa,by cluster
MAF:: AT=0./0 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000023/6 (TOPMED)
HGVS:: NC_000007.14:g.98850_98852del, NC_000007.13:g.98850_98852del, NW_021159998.1:g.74538_74540del, NT_187653.1:g.91171_91173del, NT_187558.1:g.54949_54951del

Select item 149088109118.

rs1490881091 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 7:174176 (GRCh38)
7:174176 (GRCh37)
Canonical SPDI:: NC_000007.14:174175:C:
Gene:: LOC105375115 (Varview), LOC105375116 (Varview)
Functional Consequence:: 2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.000071/1 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.174176del, NC_000007.13:g.174176del, NW_021159998.1:g.149864del, NT_187653.1:g.166497del, NT_187558.1:g.133580del, XM_017012903.3:c.-2678del

Select item 149085103619.

rs1490851036 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:111203 (GRCh38)
7:111203 (GRCh37)
Canonical SPDI:: NC_000007.14:111202:G:A
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.111203G>A, NC_000007.13:g.111203G>A, NW_021159998.1:g.86891G>A, NT_187653.1:g.103524G>A, NT_187558.1:g.66963G>A

Select item 149081927920.

rs1490819279 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:143614 (GRCh38)
7:143614 (GRCh37)
Canonical SPDI:: NC_000007.14:143613:C:T
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.143614C>T, NC_000007.13:g.143614C>T, NW_021159998.1:g.119302C>T, NT_187653.1:g.135935C>T, NT_187558.1:g.99413C>T

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