SNP Links for Nucleotide (Select 300193025) - SNP

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Links from Nucleotide

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Select item 14909851811.

rs1490985181 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 16:30085701 (GRCh38)
16:30097022 (GRCh37)
Canonical SPDI:: NC_000016.10:30085700:G:T
Gene:: PPP4C (Varview), TBX6 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000019/5 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000016.10:g.30085701G>T, NC_000016.9:g.30097022G>T, NG_023283.1:g.11184C>A

Select item 14908628662.

rs1490862866 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 16:30090582 (GRCh38)
16:30101903 (GRCh37)
Canonical SPDI:: NC_000016.10:30090579:CACA:CA
Gene:: TBX6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CACA=0.000071/1 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.30090580CA[1], NC_000016.9:g.30101901CA[1], NG_023283.1:g.6302TG[1]

Select item 14907093793.

rs1490709379 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:30086281 (GRCh38)
16:30097602 (GRCh37)
Canonical SPDI:: NC_000016.10:30086280:G:C
Gene:: TBX6 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,downstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.30086281G>C, NC_000016.9:g.30097602G>C, NG_023283.1:g.10604C>G, NM_004608.4:c.1255C>G, NM_004608.3:c.1255C>G, XM_011545926.4:c.1255C>G, XM_011545926.3:c.1255C>G, XM_011545926.2:c.1255C>G, XM_011545926.1:c.1255C>G, XM_047434551.1:c.1255C>G, NP_004599.2:p.Leu419Val, XP_011544228.1:p.Leu419Val, XP_047290507.1:p.Leu419Val

Select item 14903876564.

rs1490387656 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 16:30087898 (GRCh38)
16:30099219 (GRCh37)
Canonical SPDI:: NC_000016.10:30087896:TCT:T
Gene:: TBX6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
-=0.000008/1 (GnomAD)
HGVS:: NC_000016.10:g.30087898_30087899del, NC_000016.9:g.30099219_30099220del, NG_023283.1:g.8987_8988del

Select item 14903285835.

rs1490328583 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:30084200 (GRCh38)
16:30095521 (GRCh37)
Canonical SPDI:: NC_000016.10:30084199:C:G
Gene:: PPP4C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
HGVS:: NC_000016.10:g.30084200C>G, NC_000016.9:g.30095521C>G, NG_023283.1:g.12685G>C

Select item 14900388096.

rs1490038809 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 16:30091150 (GRCh38)
16:30102471 (GRCh37)
Canonical SPDI:: NC_000016.10:30091149:T:C,NC_000016.10:30091149:T:G
Gene:: TBX6 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000019/1 (ExAC)
C=0.000023/6 (TOPMED)
C=0.000032/7 (GnomAD_exomes)
G=0.000779/22 (TOMMO)
HGVS:: NC_000016.10:g.30091150T>C, NC_000016.10:g.30091150T>G, NC_000016.9:g.30102471T>C, NC_000016.9:g.30102471T>G, NG_023283.1:g.5735A>G, NG_023283.1:g.5735A>C, NM_004608.4:c.44A>G, NM_004608.4:c.44A>C, NM_004608.3:c.44A>G, NM_004608.3:c.44A>C, XM_011545926.4:c.44A>G, XM_011545926.4:c.44A>C, XM_011545926.3:c.44A>G, XM_011545926.3:c.44A>C, XM_011545926.2:c.44A>G, XM_011545926.2:c.44A>C, XM_011545926.1:c.44A>G, XM_011545926.1:c.44A>C, NM_080758.1:c.44A>G, NM_080758.1:c.44A>C, XM_047434551.1:c.44A>G, XM_047434551.1:c.44A>C, XR_007064904.1:n.167A>G, XR_007064904.1:n.167A>C, NP_004599.2:p.Tyr15Cys, NP_004599.2:p.Tyr15Ser, XP_011544228.1:p.Tyr15Cys, XP_011544228.1:p.Tyr15Ser, XP_047290507.1:p.Tyr15Cys, XP_047290507.1:p.Tyr15Ser

Select item 14898817097.

rs1489881709 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 16:30089766 (GRCh38)
16:30101087 (GRCh37)
Canonical SPDI:: NC_000016.10:30089765:C:G,NC_000016.10:30089765:C:T
Gene:: TBX6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.30089766C>G, NC_000016.10:g.30089766C>T, NC_000016.9:g.30101087C>G, NC_000016.9:g.30101087C>T, NG_023283.1:g.7119G>C, NG_023283.1:g.7119G>A

Select item 14895592888.

rs1489559288 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 16:30089650 (GRCh38)
16:30100971 (GRCh37)
Canonical SPDI:: NC_000016.10:30089649:G:T
Gene:: TBX6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.30089650G>T, NC_000016.9:g.30100971G>T, NG_023283.1:g.7235C>A

Select item 14891150879.

rs1489115087 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:30092058 (GRCh38)
16:30103379 (GRCh37)
Canonical SPDI:: NC_000016.10:30092057:G:C
Gene:: TBX6 (Varview), YPEL3 (Varview)
Functional Consequence:: 2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.30092058G>C, NC_000016.9:g.30103379G>C, NG_023283.1:g.4827C>G

Select item 148895376610.

rs1488953766 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:30092763 (GRCh38)
16:30104084 (GRCh37)
Canonical SPDI:: NC_000016.10:30092762:C:G
Gene:: TBX6 (Varview), YPEL3 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.30092763C>G, NC_000016.9:g.30104084C>G, NG_023283.1:g.4122G>C, NM_031477.5:c.421G>C, NM_031477.4:c.421G>C, NM_001145524.2:c.307G>C, NM_001145524.1:c.307G>C, NP_113665.3:p.Gly141Arg, NP_001138996.1:p.Gly103Arg

Select item 148858917511.

rs1488589175 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 16:30090172 (GRCh38)
16:30101493 (GRCh37)
Canonical SPDI:: NC_000016.10:30090171:A:C
Gene:: TBX6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.30090172A>C, NC_000016.9:g.30101493A>C, NG_023283.1:g.6713T>G

Select item 148854161312.

rs1488541613 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:30095505 (GRCh38)
16:30106826 (GRCh37)
Canonical SPDI:: NC_000016.10:30095504:G:A
Gene:: YPEL3 (Varview), YPEL3-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,5_prime_UTR_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000011/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.30095505G>A, NC_000016.9:g.30106826G>A, NG_023283.1:g.1380C>T, NM_031477.5:c.-23C>T, NM_031477.4:c.-23C>T

Select item 148844075213.

rs1488440752 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 16:30095504 (GRCh38)
16:30106825 (GRCh37)
Canonical SPDI:: NC_000016.10:30095503:GGGG:GGG
Gene:: YPEL3 (Varview), YPEL3-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,5_prime_UTR_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.30095507del, NC_000016.9:g.30106828del, NG_023283.1:g.1381del, NM_031477.5:c.-22del, NM_031477.4:c.-22del

Select item 148843242014.

rs1488432420 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 16:30096214 (GRCh38)
16:30107535 (GRCh37)
Canonical SPDI:: NC_000016.10:30096213:A:C,NC_000016.10:30096213:A:T
Gene:: YPEL3 (Varview), YPEL3-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_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_000016.10:g.30096214A>C, NC_000016.10:g.30096214A>T, NC_000016.9:g.30107535A>C, NC_000016.9:g.30107535A>T, NG_023283.1:g.671T>G, NG_023283.1:g.671T>A, NM_001145524.1:c.-184T>G, NM_001145524.1:c.-184T>A

Select item 148833119215.

rs1488331192 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:30088665 (GRCh38)
16:30099986 (GRCh37)
Canonical SPDI:: NC_000016.10:30088664:C:T
Gene:: TBX6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.30088665C>T, NC_000016.9:g.30099986C>T, NG_023283.1:g.8220G>A

Select item 148826657416.

rs1488266574 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:30085816 (GRCh38)
16:30097137 (GRCh37)
Canonical SPDI:: NC_000016.10:30085815:G:A
Gene:: PPP4C (Varview), TBX6 (Varview)
Functional Consequence:: 3_prime_UTR_variant,500B_downstream_variant,genic_downstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000684/2 (KOREAN)
HGVS:: NC_000016.10:g.30085816G>A, NC_000016.9:g.30097137G>A, NG_023283.1:g.11069C>T, NM_004608.4:c.*409C>T, NM_004608.3:c.*409C>T, XM_011545926.4:c.*409C>T, XM_011545926.3:c.*409C>T, XM_011545926.2:c.*409C>T, XM_011545926.1:c.*409C>T, XM_047434551.1:c.*409C>T

Select item 148823562417.

rs1488235624 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 16:30092806 (GRCh38)
16:30104127 (GRCh37)
Canonical SPDI:: NC_000016.10:30092805:GG:G
Gene:: TBX6 (Varview), YPEL3 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000011/3 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.30092807del, NC_000016.9:g.30104128del, NG_023283.1:g.4079del

Select item 148787565318.

rs1487875653 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:30085229 (GRCh38)
16:30096550 (GRCh37)
Canonical SPDI:: NC_000016.10:30085228:G:A
Gene:: PPP4C (Varview)
Functional Consequence:: 3_prime_UTR_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_000016.10:g.30085229G>A, NC_000016.9:g.30096550G>A, NG_023283.1:g.11656C>T, XM_006721061.5:c.*167G>A, XM_006721061.4:c.*167G>A, XM_006721061.3:c.*167G>A, XM_006721061.2:c.*167G>A, XM_006721061.1:c.*167G>A, NM_002720.3:c.*167G>A, NM_002720.2:c.*167G>A, NM_002720.1:c.*167G>A, NM_001303506.2:c.*167G>A, NM_001303506.1:c.*167G>A, NM_001303503.2:c.*167G>A, NM_001303503.1:c.*167G>A, NM_001303507.2:c.*167G>A, NM_001303507.1:c.*167G>A, NM_001303504.2:c.*167G>A, NM_001303504.1:c.*167G>A

Select item 148774705219.

rs1487747052 has merged into rs371361340 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAG>- [Show Flanks]
Chromosome:: 16:30085657 (GRCh38)
16:30096978 (GRCh37)
Canonical SPDI:: NC_000016.10:30085653:GAGGAG:GAG
Gene:: PPP4C (Varview), TBX6 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAGGAG=0.000427/6 (ALFA)
-=0.000298/79 (TOPMED)
-=0.000364/51 (GnomAD)
-=0.000468/3 (1000Genomes)
HGVS:: NC_000016.10:g.30085654GAG[1], NC_000016.9:g.30096975GAG[1], NG_023283.1:g.11226CTC[1]

Select item 148735153520.

rs1487351535 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:30092468 (GRCh38)
16:30103789 (GRCh37)
Canonical SPDI:: NC_000016.10:30092467:G:A
Gene:: TBX6 (Varview), YPEL3 (Varview)
Functional Consequence:: 3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.30092468G>A, NC_000016.9:g.30103789G>A, NG_023283.1:g.4417C>T, NM_031477.5:c.*242C>T, NM_031477.4:c.*242C>T, NM_001145524.2:c.*242C>T, NM_001145524.1:c.*242C>T

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