SNP Links for Nucleotide (Select 221136789) - SNP

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Links from Nucleotide

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Select item 14893123481.

rs1489312348 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:23709793 (GRCh38)
22:24051980 (GRCh37)
Canonical SPDI:: NC_000022.11:23709792:T:C
Gene:: GUSBP11 (Varview)
Functional Consequence:: 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)
HGVS:: NC_000022.11:g.23709793T>C, NC_000022.10:g.24051980T>C, NR_024448.2:n.810A>G

Select item 14867269472.

rs1486726947 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:23638674 (GRCh38)
22:23980861 (GRCh37)
Canonical SPDI:: NC_000022.11:23638673:G:A
Gene:: GUSBP11 (Varview), LOC124905089 (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=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.23638674G>A, NC_000022.10:g.23980861G>A, NG_083967.1:g.1856C>T, NR_024448.2:n.3230C>T

Select item 14861652713.

rs1486165271 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>- [Show Flanks]
Chromosome:: 22:23694984 (GRCh38)
22:24037171 (GRCh37)
Canonical SPDI:: NC_000022.11:23694980:AAAAAA:AAA
Gene:: GUSBP11 (Varview), RGL4 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,inframe_deletion,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.23694984_23694986del, NC_000022.10:g.24037171_24037173del, NM_001329424.3:c.1051_1053del, NM_001329424.2:c.1051_1053del, NM_001329424.1:c.1051_1053del, NR_024448.2:n.1697_1699del, NM_153615.2:c.1051_1053del, NM_153615.1:c.1051_1053del, NP_001316353.1:p.Lys351del, NP_705843.1:p.Lys351del

Select item 14844656414.

rs1484465641 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:23695375 (GRCh38)
22:24037562 (GRCh37)
Canonical SPDI:: NC_000022.11:23695374:T:C
Gene:: GUSBP11 (Varview), RGL4 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
C=0.000035/1 (TOMMO)
HGVS:: NC_000022.11:g.23695375T>C, NC_000022.10:g.24037562T>C, NR_024448.2:n.1305A>G

Select item 14843268845.

rs1484326884 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 22:23694782 (GRCh38)
22:24036969 (GRCh37)
Canonical SPDI:: NC_000022.11:23694781:C:A
Gene:: GUSBP11 (Varview), RGL4 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.23694782C>A, NC_000022.10:g.24036969C>A, NR_024448.2:n.1898G>T

Select item 14819490726.

rs1481949072 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 22:23694450 (GRCh38)
22:24036637 (GRCh37)
Canonical SPDI:: NC_000022.11:23694449:G:A,NC_000022.11:23694449:G:T
Gene:: GUSBP11 (Varview), RGL4 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
T=0.000007/1 (GnomAD)
A=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000022.11:g.23694450G>A, NC_000022.11:g.23694450G>T, NC_000022.10:g.24036637G>A, NC_000022.10:g.24036637G>T, NM_001329424.3:c.1016G>A, NM_001329424.3:c.1016G>T, NM_001329424.2:c.1016G>A, NM_001329424.2:c.1016G>T, NM_001329424.1:c.1016G>A, NM_001329424.1:c.1016G>T, NR_024448.2:n.2230C>T, NR_024448.2:n.2230C>A, NM_153615.2:c.1016G>A, NM_153615.2:c.1016G>T, NM_153615.1:c.1016G>A, NM_153615.1:c.1016G>T, NP_001316353.1:p.Ser339Asn, NP_001316353.1:p.Ser339Ile, NP_705843.1:p.Ser339Asn, NP_705843.1:p.Ser339Ile

Select item 14817209787.

rs1481720978 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:23717265 (GRCh38)
22:24059452 (GRCh37)
Canonical SPDI:: NC_000022.11:23717264:C:T
Gene:: GUSBP11 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.23717265C>T, NC_000022.10:g.24059452C>T, NR_024448.2:n.159G>A

Select item 14804196868.

rs1480419686 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 22:23717283 (GRCh38)
22:24059470 (GRCh37)
Canonical SPDI:: NC_000022.11:23717282:CCCCCC:CCCCC
Gene:: GUSBP11 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCC=0./0 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000019/5 (TOPMED)
HGVS:: NC_000022.11:g.23717288del, NC_000022.10:g.24059475del, NR_024448.2:n.141del

Select item 14779924129.

rs1477992412 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:23694556 (GRCh38)
22:24036743 (GRCh37)
Canonical SPDI:: NC_000022.11:23694555:A:G
Gene:: GUSBP11 (Varview), RGL4 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000029/4 (GnomAD)
G=0.00006/16 (TOPMED)
HGVS:: NC_000022.11:g.23694556A>G, NC_000022.10:g.24036743A>G, NR_024448.2:n.2124T>C

Select item 147726573110.

rs1477265731 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CCTCT [Show Flanks]
Chromosome:: 22:23717106 (GRCh38)
22:24059294 (GRCh37)
Canonical SPDI:: NC_000022.11:23717106:CCTCT:CCTCTCCTCT
Gene:: GUSBP11 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCTCTCCTCT=0./0 (ALFA)
CCTCT=0.000004/1 (TOPMED)
CCTCT=0.000014/2 (GnomAD)
HGVS:: NC_000022.11:g.23717107_23717111dup, NC_000022.10:g.24059294_24059298dup, NR_024448.2:n.313_317dup

Select item 147707465711.

rs1477074657 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 22:23694812 (GRCh38)
22:24036999 (GRCh37)
Canonical SPDI:: NC_000022.11:23694811:CCCC:CCC
Gene:: GUSBP11 (Varview), RGL4 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCC=0./0 (ALFA)
-=0./0 (Korea1K)
-=0.000007/1 (GnomAD)
-=0.000049/13 (TOPMED)
-=0.000177/3 (TOMMO)
HGVS:: NC_000022.11:g.23694815del, NC_000022.10:g.24037002del, NR_024448.2:n.1868del

Select item 147454290412.

rs1474542904 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:23695252 (GRCh38)
22:24037439 (GRCh37)
Canonical SPDI:: NC_000022.11:23695251:T:C
Gene:: GUSBP11 (Varview), RGL4 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000022.11:g.23695252T>C, NC_000022.10:g.24037439T>C, NR_024448.2:n.1428A>G

Select item 147308300013.

rs1473083000 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:23638757 (GRCh38)
22:23980944 (GRCh37)
Canonical SPDI:: NC_000022.11:23638756:T:C
Gene:: GUSBP11 (Varview), LOC124905089 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.23638757T>C, NC_000022.10:g.23980944T>C, NG_083967.1:g.1773A>G, NR_024448.2:n.3147A>G

Select item 147295696814.

rs1472956968 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:23714320 (GRCh38)
22:24056507 (GRCh37)
Canonical SPDI:: NC_000022.11:23714319:G:A
Gene:: GUSBP11 (Varview)
Functional Consequence:: non_coding_transcript_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_000022.11:g.23714320G>A, NC_000022.10:g.24056507G>A, NR_024448.2:n.602C>T

Select item 147239590215.

rs1472395902 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:23717406 (GRCh38)
22:24059593 (GRCh37)
Canonical SPDI:: NC_000022.11:23717405:C:T
Gene:: GUSBP11 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000034/9 (TOPMED)
T=0.000036/5 (GnomAD)
HGVS:: NC_000022.11:g.23717406C>T, NC_000022.10:g.24059593C>T, NR_024448.2:n.18G>A

Select item 147225375216.

rs1472253752 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 22:23694236 (GRCh38)
22:24036423 (GRCh37)
Canonical SPDI:: NC_000022.11:23694235:G:T
Gene:: GUSBP11 (Varview), RGL4 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.23694236G>T, NC_000022.10:g.24036423G>T, NR_024448.2:n.2444C>A

Select item 147221810017.

rs1472218100 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 22:23694418 (GRCh38)
22:24036605 (GRCh37)
Canonical SPDI:: NC_000022.11:23694417:T:G
Gene:: GUSBP11 (Varview), RGL4 (Varview)
Functional Consequence:: upstream_transcript_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_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_000022.11:g.23694418T>G, NC_000022.10:g.24036605T>G, NM_001329424.3:c.984T>G, NM_001329424.2:c.984T>G, NM_001329424.1:c.984T>G, NR_024448.2:n.2262A>C, NM_153615.2:c.984T>G, NM_153615.1:c.984T>G

Select item 147211096318.

rs1472110963 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:23709145 (GRCh38)
22:24051332 (GRCh37)
Canonical SPDI:: NC_000022.11:23709144:T:C
Gene:: GUSBP11 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000022.11:g.23709145T>C, NC_000022.10:g.24051332T>C, NR_024448.2:n.914A>G

Select item 147161165419.

rs1471611654 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 22:23683807 (GRCh38)
22:24025994 (GRCh37)
Canonical SPDI:: NC_000022.11:23683806:G:A,NC_000022.11:23683806:G:C
Gene:: GUSBP11 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.00003/4 (GnomAD)
HGVS:: NC_000022.11:g.23683807G>A, NC_000022.11:g.23683807G>C, NC_000022.10:g.24025994G>A, NC_000022.10:g.24025994G>C, NR_024448.2:n.2743C>T, NR_024448.2:n.2743C>G

Select item 147159851320.

rs1471598513 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:23709232 (GRCh38)
22:24051419 (GRCh37)
Canonical SPDI:: NC_000022.11:23709231:T:C
Gene:: GUSBP11 (Varview)
Functional Consequence:: 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)
HGVS:: NC_000022.11:g.23709232T>C, NC_000022.10:g.24051419T>C, NR_024448.2:n.827A>G