SNP Links for Gene (Select 4584) - SNP

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Items: 1 to 20 of 9461

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Select item 14915827741.

rs1491582774 [Homo sapiens]

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

Select item 14913462592.

rs1491346259 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>-,CCC [Show Flanks]
Chromosome:: 7:100952718 (GRCh38)
7:100550358 (GRCh37)
Canonical SPDI:: NC_000007.14:100952713:CCCCCC:CCCC,NC_000007.14:100952713:CCCCCC:CCCCCCC
Gene:: MUC3A (Varview), LOC105375431 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: C=0./0 (ExAC)
HGVS:: NC_000007.14:g.100952718_100952719del, NC_000007.14:g.100952719dup, NC_000007.13:g.100550358_100550359del, NC_000007.13:g.100550359dup, NM_005960.2:c.939_940del, NM_005960.2:c.940dup, NM_005960.1:c.939_940del, NM_005960.1:c.940dup, NP_005951.1:p.Leu314fs, NP_005951.1:p.Leu314fs

Select item 14912730233.

rs1491273023 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 7:100964065 (GRCh38)
7:100555892 (GRCh37)
Canonical SPDI:: NC_000007.14:100964063:AAA:A
Gene:: MUC3A (Varview), LOC105375431 (Varview), LOC124900622 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.002445/29 (ALFA)
-=0.002207/309 (GnomAD)
HGVS:: NC_000007.14:g.100964065_100964066del, NC_000007.13:g.100555892_100555893del

Select item 14912244834.

rs1491224483 [Homo sapiens]

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

Select item 14912114585.

rs1491211458 [Homo sapiens]

Variant type:: INS
Alleles:: ->GG [Show Flanks]
Chromosome:: 7:100964078 (GRCh38)
7:100555906 (GRCh37)
Canonical SPDI:: NC_000007.14:100964078::GG
Gene:: MUC3A (Varview), LOC105375431 (Varview), LOC124900622 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
HGVS:: NC_000007.14:g.100964078_100964079insGG, NC_000007.13:g.100555905_100555906insGG

Select item 14911897776.

rs1491189777 [Homo sapiens]

Variant type:: INS
Alleles:: ->AT [Show Flanks]
Chromosome:: 7:100952714 (GRCh38)
7:100550355 (GRCh37)
Canonical SPDI:: NC_000007.14:100952714::AT
Gene:: MUC3A (Varview), LOC105375431 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: AT=0.0119/29 (ALFA)
HGVS:: NC_000007.14:g.100952714_100952715insAT, NC_000007.13:g.100550354_100550355insAT, NM_005960.2:c.935_936insAT, NM_005960.1:c.935_936insAT, NP_005951.1:p.Pro313fs

Select item 14911600147.

rs1491160014 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 7:100964064 (GRCh38)
7:100555892 (GRCh37)
Canonical SPDI:: NC_000007.14:100964064::G
Gene:: MUC3A (Varview), LOC105375431 (Varview), LOC124900622 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: G=0.003079/87 (TOMMO)
G=0.011463/21 (Korea1K)
G=0.015023/2078 (GnomAD)
HGVS:: NC_000007.14:g.100964064_100964065insG, NC_000007.13:g.100555891_100555892insG

Select item 14911339138.

rs1491133913 [Homo sapiens]

Variant type:: INS
Alleles:: ->C,CCC [Show Flanks]
Chromosome:: 7:100962834 (GRCh38)
7:100554664 (GRCh37)
Canonical SPDI:: NC_000007.14:100962834::C,NC_000007.14:100962834::CCC
Gene:: MUC3A (Varview), LOC105375431 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: CCC=0.000008/1 (GnomAD)
C=0.000546/1 (Korea1K)
HGVS:: NC_000007.14:g.100962834_100962835insC, NC_000007.14:g.100962834_100962835insCCC, NC_000007.13:g.100554663_100554664insC, NC_000007.13:g.100554663_100554664insCCC

Select item 14910259019.

rs1491025901 [Homo sapiens]

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

Select item 149101813010.

rs1491018130 [Homo sapiens]

Variant type:: INS
Alleles:: ->CATCCCACAGT [Show Flanks]
Chromosome:: 7:100958830 (GRCh38)
7:100550960 (GRCh37)
Canonical SPDI:: NC_000007.14:100958830::CATCCCACAGT
Gene:: MUC3A (Varview), LOC105375431 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: CATCCCACAGT=0.00004/1 (TOMMO)
HGVS:: NC_000007.14:g.100958830_100958831insCATCCCACAGT, NC_000007.13:g.100550959_100550960insCATCCCACAGT, NM_005960.2:c.7051_7052insCATCCCACAGT, NM_005960.1:c.7051_7052insCATCCCACAGT, NP_005951.1:p.Asn2351fs

Select item 149098695311.

rs1490986953 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:100957297 (GRCh38)
7:-1 (GRCh37)
Canonical SPDI:: NC_000007.14:100957296:A:G
Gene:: MUC3A (Varview), LOC105375431 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.100957297A>G, NM_005960.2:c.5518A>G, NM_005960.1:c.5518A>G, NP_005951.1:p.Thr1840Ala

Select item 149094347412.

rs1490943474 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:100965064 (GRCh38)
7:100608115 (GRCh37)
Canonical SPDI:: NC_000007.14:100965063:G:A
Gene:: MUC3A (Varview), LOC124900622 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.100965064G>A, NC_000007.13:g.100608115G>A, NG_053126.1:g.442G>A

Select item 149093052913.

rs1490930529 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 7:100957679 (GRCh38)
7:-1 (GRCh37)
Canonical SPDI:: NC_000007.14:100957678:C:A,NC_000007.14:100957678:C:G,NC_000007.14:100957678:C:T
Gene:: MUC3A (Varview), LOC105375431 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.27828/3301 (ALFA)
A=0.00025/1 (GnomAD)
HGVS:: NC_000007.14:g.100957679C>A, NC_000007.14:g.100957679C>G, NC_000007.14:g.100957679C>T, NM_005960.2:c.5900C>A, NM_005960.2:c.5900C>G, NM_005960.2:c.5900C>T, NM_005960.1:c.5900C>A, NM_005960.1:c.5900C>G, NM_005960.1:c.5900C>T, NP_005951.1:p.Thr1967Asn, NP_005951.1:p.Thr1967Ser, NP_005951.1:p.Thr1967Ile

Select item 149078299014.

rs1490782990 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:100953603 (GRCh38)
7:-1 (GRCh37)
Canonical SPDI:: NC_000007.14:100953602:T:C
Gene:: MUC3A (Varview), LOC105375431 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.5/5931 (ALFA)
C=0.49836/912 (Korea1K)
C=0.49876/14081 (TOMMO)
HGVS:: NC_000007.14:g.100953603T>C, NM_005960.2:c.1824T>C, NM_005960.1:c.1824T>C

Select item 149070162315.

rs1490701623 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 7:100965139 (GRCh38)
7:-1 (GRCh37)
Canonical SPDI:: NC_000007.14:100965138:T:
Gene:: MUC3A (Varview), LOC124900622 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.49919/14105 (TOMMO)
T=0.49945/915 (Korea1K)
T=0.5/3202 (1000Genomes)
HGVS:: NC_000007.14:g.100965139del, NG_053126.1:g.517del

Select item 149062310816.

rs1490623108 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:100953370 (GRCh38)
7:-1 (GRCh37)
Canonical SPDI:: NC_000007.14:100953369:G:A
Gene:: MUC3A (Varview), LOC105375431 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.07933/941 (ALFA)
HGVS:: NC_000007.14:g.100953370G>A, NM_005960.2:c.1591G>A, NM_005960.1:c.1591G>A, NP_005951.1:p.Ala531Thr

Select item 149049756417.

rs1490497564 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:100948934 (GRCh38)
7:100546566 (GRCh37)
Canonical SPDI:: NC_000007.14:100948933:G:C
Gene:: MUC3A (Varview), LOC105375431 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00202/33 (ALFA)
C=0.00011/3 (TOMMO)
C=0.00062/4 (1000Genomes)
C=0.00109/2 (Korea1K)
C=0.13185/385 (KOREAN)
HGVS:: NC_000007.14:g.100948934G>C, NC_000007.13:g.100546566G>C

Select item 149048243518.

rs1490482435 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:100961814 (GRCh38)
7:100553944 (GRCh37)
Canonical SPDI:: NC_000007.14:100961813:G:T
Gene:: MUC3A (Varview), LOC105375431 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
HGVS:: NC_000007.14:g.100961814G>T, NC_000007.13:g.100553944G>T

Select item 149043147719.

rs1490431477 has merged into rs1261822130 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT [Show Flanks]
Chromosome:: 7:100961353 (GRCh38)
7:100553482 (GRCh37)
Canonical SPDI:: NC_000007.14:100961352:TTTTTTT:TTTTTT,NC_000007.14:100961352:TTTTTTT:TTTTTTTT
Gene:: MUC3A (Varview), LOC105375431 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
-=0.00004/1 (TOMMO)
-=0.00007/2 (GnomAD)
HGVS:: NC_000007.14:g.100961359del, NC_000007.14:g.100961359dup, NC_000007.13:g.100553488del, NC_000007.13:g.100553488dup

Select item 149040265020.

rs1490402650 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:100953897 (GRCh38)
7:-1 (GRCh37)
Canonical SPDI:: NC_000007.14:100953896:A:G
Gene:: MUC3A (Varview), LOC105375431 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.49772/5904 (ALFA)
G=0.42147/11910 (TOMMO)
HGVS:: NC_000007.14:g.100953897A>G, NM_005960.2:c.2118A>G, NM_005960.1:c.2118A>G

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