SNP Links for Gene (Select 79918) - SNP

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Links from Gene

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Select item 14913946201.

rs1491394620 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 16:58522055 (GRCh38)
16:58555960 (GRCh37)
Canonical SPDI:: NC_000016.10:58522055:A:AA
Gene:: CNOT1 (Varview), SETD6 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0.001068/15 (ALFA)
A=0.00155/217 (GnomAD)
A=0.00203/13 (1000Genomes)
HGVS:: NC_000016.10:g.58522056dup, NC_000016.9:g.58555960dup, NM_001160305.4:c.*3027dup

Select item 14910523782.

rs1491052378 [Homo sapiens]

Variant type:: INS
Alleles:: ->AG [Show Flanks]
Chromosome:: 16:58514765 (GRCh38)
16:58548670 (GRCh37)
Canonical SPDI:: NC_000016.10:58514765::AG
Gene:: NDRG4 (Varview), SETD6 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_downstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AG=0./0 (ALFA)
HGVS:: NC_000016.10:g.58514765_58514766insAG, NC_000016.9:g.58548669_58548670insAG, NG_041803.1:g.56121_56122insAG

Select item 14910229643.

rs1491022964 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 16:58514765 (GRCh38)
16:58548669 (GRCh37)
Canonical SPDI:: NC_000016.10:58514764:AG:
Gene:: NDRG4 (Varview), SETD6 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_downstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000016.10:g.58514765_58514766del, NC_000016.9:g.58548669_58548670del, NG_041803.1:g.56121_56122del

Select item 14908901794.

rs1490890179 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:58517801 (GRCh38)
16:58551705 (GRCh37)
Canonical SPDI:: NC_000016.10:58517800:A:G
Gene:: SETD6 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000016.10:g.58517801A>G, NC_000016.9:g.58551705A>G

Select item 14908048985.

rs1490804898 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 16:58514350 (GRCh38)
16:58548254 (GRCh37)
Canonical SPDI:: NC_000016.10:58514349:C:G,NC_000016.10:58514349:C:T
Gene:: NDRG4 (Varview), SETD6 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_downstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
G=0.000035/1 (TOMMO)
HGVS:: NC_000016.10:g.58514350C>G, NC_000016.10:g.58514350C>T, NC_000016.9:g.58548254C>G, NC_000016.9:g.58548254C>T, NG_041803.1:g.55706C>G, NG_041803.1:g.55706C>T

Select item 14899902446.

rs1489990244 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:58517162 (GRCh38)
16:58551066 (GRCh37)
Canonical SPDI:: NC_000016.10:58517161:G:A
Gene:: SETD6 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000021/3 (GnomAD)
A=0.000057/15 (TOPMED)
A=0.00184/31 (TOMMO)
A=0.003275/6 (Korea1K)
A=0.003422/10 (KOREAN)
HGVS:: NC_000016.10:g.58517162G>A, NC_000016.9:g.58551066G>A

Select item 14899062027.

rs1489906202 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 16:58519788 (GRCh38)
16:58553693 (GRCh37)
Canonical SPDI:: NC_000016.10:58519788::T
Gene:: CNOT1 (Varview), SETD6 (Varview)
Functional Consequence:: 500B_downstream_variant,3_prime_UTR_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.58519788_58519789insT, NC_000016.9:g.58553692_58553693insT, NM_001160305.4:c.*759_*760insT, NM_001160305.3:c.*759_*760insT, NM_001160305.2:c.*759_*760insT, NM_001160305.1:c.*759_*760insT, NM_024860.3:c.*759_*760insT, NM_024860.2:c.*759_*760insT, NR_134583.1:n.2199_2200insT

Select item 14897135178.

rs1489713517 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:58518946 (GRCh38)
16:58552850 (GRCh37)
Canonical SPDI:: NC_000016.10:58518945:C:T
Gene:: SETD6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000016.10:g.58518946C>T, NC_000016.9:g.58552850C>T, NM_001160305.4:c.1339C>T, NM_001160305.3:c.1339C>T, NM_001160305.2:c.1339C>T, NM_001160305.1:c.1339C>T, NM_024860.3:c.1267C>T, NM_024860.2:c.1267C>T, NR_134583.1:n.1357C>T, NP_001153777.1:p.Leu447Phe, NP_079136.2:p.Leu423Phe

Select item 14893910489.

rs1489391048 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:58518689 (GRCh38)
16:58552593 (GRCh37)
Canonical SPDI:: NC_000016.10:58518688:T:C
Gene:: SETD6 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.58518689T>C, NC_000016.9:g.58552593T>C

Select item 148895073910.

rs1488950739 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:58518560 (GRCh38)
16:58552464 (GRCh37)
Canonical SPDI:: NC_000016.10:58518559:G:A
Gene:: SETD6 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.58518560G>A, NC_000016.9:g.58552464G>A

Select item 148894923611.

rs1488949236 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTCA [Show Flanks]
Chromosome:: 16:58519943 (GRCh38)
16:58553848 (GRCh37)
Canonical SPDI:: NC_000016.10:58519943:ACTCA:ACTCACTCA
Gene:: CNOT1 (Varview), SETD6 (Varview)
Functional Consequence:: 500B_downstream_variant,3_prime_UTR_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACTCACTCA=0./0 (ALFA)
ACTC=0.000034/9 (TOPMED)
ACTC=0.000043/6 (GnomAD)
HGVS:: NC_000016.10:g.58519945_58519948dup, NC_000016.9:g.58553849_58553852dup, NM_001160305.4:c.*916_*919dup, NM_001160305.3:c.*916_*919dup, NM_001160305.2:c.*916_*919dup, NM_001160305.1:c.*916_*919dup, NM_024860.3:c.*916_*919dup, NM_024860.2:c.*916_*919dup, NR_134583.1:n.2356_2359dup

Select item 148886007212.

rs1488860072 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:58516974 (GRCh38)
16:58550878 (GRCh37)
Canonical SPDI:: NC_000016.10:58516973:C:T
Gene:: SETD6 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.58516974C>T, NC_000016.9:g.58550878C>T

Select item 148883716413.

rs1488837164 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:58520656 (GRCh38)
16:58554560 (GRCh37)
Canonical SPDI:: NC_000016.10:58520655:G:A
Gene:: CNOT1 (Varview), SETD6 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.58520656G>A, NC_000016.9:g.58554560G>A, NM_016284.5:c.*302C>T, NM_016284.4:c.*302C>T, NM_001160305.4:c.*1627G>A, NR_049763.2:n.7874C>T, NR_049763.1:n.7934C>T, NM_001265612.2:c.*302C>T, NM_001265612.1:c.*302C>T

Select item 148855594514.

rs1488555945 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:58516695 (GRCh38)
16:58550599 (GRCh37)
Canonical SPDI:: NC_000016.10:58516694:G:A
Gene:: SETD6 (Varview)
Functional Consequence:: downstream_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_000016.10:g.58516695G>A, NC_000016.9:g.58550599G>A

Select item 148854070715.

rs1488540707 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:58514231 (GRCh38)
16:58548135 (GRCh37)
Canonical SPDI:: NC_000016.10:58514230:G:A
Gene:: NDRG4 (Varview), SETD6 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_downstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000016.10:g.58514231G>A, NC_000016.9:g.58548135G>A, NG_041803.1:g.55587G>A

Select item 148771005016.

rs1487710050 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:58518936 (GRCh38)
16:58552840 (GRCh37)
Canonical SPDI:: NC_000016.10:58518935:C:G
Gene:: SETD6 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000016.10:g.58518936C>G, NC_000016.9:g.58552840C>G, NM_001160305.4:c.1329C>G, NM_001160305.3:c.1329C>G, NM_001160305.2:c.1329C>G, NM_001160305.1:c.1329C>G, NM_024860.3:c.1257C>G, NM_024860.2:c.1257C>G, NR_134583.1:n.1347C>G

Select item 148701970517.

rs1487019705 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:58515424 (GRCh38)
16:58549328 (GRCh37)
Canonical SPDI:: NC_000016.10:58515423:C:G
Gene:: NDRG4 (Varview), SETD6 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000036/5 (GnomAD)
HGVS:: NC_000016.10:g.58515424C>G, NC_000016.9:g.58549328C>G, NG_041803.1:g.56780C>G

Select item 148701794718.

rs1487017947 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:58521752 (GRCh38)
16:58555656 (GRCh37)
Canonical SPDI:: NC_000016.10:58521751:G:A
Gene:: CNOT1 (Varview), SETD6 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.58521752G>A, NC_000016.9:g.58555656G>A, NM_001160305.4:c.*2723G>A

Select item 148678766019.

rs1486787660 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 16:58522206 (GRCh38)
16:58556110 (GRCh37)
Canonical SPDI:: NC_000016.10:58522205:C:A
Gene:: CNOT1 (Varview), SETD6 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000413/48 (GnomAD)
HGVS:: NC_000016.10:g.58522206C>A, NC_000016.9:g.58556110C>A, NM_001160305.4:c.*3177C>A

Select item 148663305720.

rs1486633057 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:58516796 (GRCh38)
16:58550700 (GRCh37)
Canonical SPDI:: NC_000016.10:58516795:T:C
Gene:: SETD6 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.58516796T>C, NC_000016.9:g.58550700T>C

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