SNP Links for Gene (Select 4582) - SNP

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Select item 14914641941.

rs1491464194 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TGT [Show Flanks]
Chromosome:: 1:155186469 (GRCh38)
1:155158946 (GRCh37)
Canonical SPDI:: NC_000001.11:155186469:TGT:TGTTGT
Gene:: MUC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TGTTGT=0./0 (ALFA)
TGT=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.155186470_155186472dup, NC_000001.10:g.155158946_155158948dup

Select item 14912807272.

rs1491280727 has merged into rs58446580 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 1:155186483 (GRCh38)
1:155158959 (GRCh37)
Canonical SPDI:: NC_000001.11:155186468:GTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGT,NC_000001.11:155186468:GTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGT,NC_000001.11:155186468:GTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGT,NC_000001.11:155186468:GTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT,NC_000001.11:155186468:GTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:155186468:GTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:155186468:GTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:155186468:GTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:155186468:GTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:155186468:GTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:155186468:GTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: MUC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGTGTGT=0./0 (ALFA)
-=0.4708/2358 (1000Genomes)
-=0.5/20 (GENOME_DK)
HGVS:: NC_000001.11:g.155186469GT[7], NC_000001.11:g.155186469GT[8], NC_000001.11:g.155186469GT[9], NC_000001.11:g.155186469GT[10], NC_000001.11:g.155186469GT[11], NC_000001.11:g.155186469GT[13], NC_000001.11:g.155186469GT[14], NC_000001.11:g.155186469GT[15], NC_000001.11:g.155186469GT[16], NC_000001.11:g.155186469GT[17], NC_000001.11:g.155186469GT[18], NC_000001.10:g.155158945GT[7], NC_000001.10:g.155158945GT[8], NC_000001.10:g.155158945GT[9], NC_000001.10:g.155158945GT[10], NC_000001.10:g.155158945GT[11], NC_000001.10:g.155158945GT[13], NC_000001.10:g.155158945GT[14], NC_000001.10:g.155158945GT[15], NC_000001.10:g.155158945GT[16], NC_000001.10:g.155158945GT[17], NC_000001.10:g.155158945GT[18]

Select item 14909482623.

rs1490948262 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:155187644 (GRCh38)
1:155160120 (GRCh37)
Canonical SPDI:: NC_000001.11:155187643:G:T
Gene:: MUC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.155187644G>T, NC_000001.10:g.155160120G>T

Select item 14909087684.

rs1490908768 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:155192487 (GRCh38)
1:155162278 (GRCh37)
Canonical SPDI:: NC_000001.11:155192486:T:G
Gene:: MUC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.155192487T>G, NC_000001.10:g.155162278T>G

Select item 14898183485.

rs1489818348 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:155194266 (GRCh38)
1:155164057 (GRCh37)
Canonical SPDI:: NC_000001.11:155194265:T:C
Gene:: MUC1 (Varview), MIR92B (Varview), THBS3-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_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_000001.11:g.155194266T>C, NC_000001.10:g.155164057T>C, NG_047083.1:g.19915A>G

Select item 14896098846.

rs1489609884 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:155192604 (GRCh38)
1:155162395 (GRCh37)
Canonical SPDI:: NC_000001.11:155192603:G:T
Gene:: MUC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.155192604G>T, NC_000001.10:g.155162395G>T

Select item 14891546647.

rs1489154664 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:155193259 (GRCh38)
1:155163050 (GRCh37)
Canonical SPDI:: NC_000001.11:155193258:C:A
Gene:: MUC1 (Varview), MIR92B (Varview), THBS3-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.155193259C>A, NC_000001.10:g.155163050C>A

Select item 14887137188.

rs1488713718 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:155188868 (GRCh38)
1:155161344 (GRCh37)
Canonical SPDI:: NC_000001.11:155188867:T:G
Gene:: MUC1 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.37565/4456 (ALFA)
G=0.02083/2 (TOMMO)
HGVS:: NC_000001.11:g.155188868T>G, NC_000001.10:g.155161344G>T, NM_001371720.1:c.2448C>A

Select item 14885214859.

rs1488521485 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:155190501 (GRCh38)
1:-1 (GRCh37)
Canonical SPDI:: NC_000001.11:155190500:G:C
Gene:: MUC1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.10445/1239 (ALFA)
HGVS:: NC_000001.11:g.155190501G>C, NM_001371720.1:c.1298C>G, NP_001358649.1:p.Thr433Ser

Select item 148851356110.

rs1488513561 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:155193327 (GRCh38)
1:155163118 (GRCh37)
Canonical SPDI:: NC_000001.11:155193326:C:T
Gene:: MUC1 (Varview), MIR92B (Varview), THBS3-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.155193327C>T, NC_000001.10:g.155163118C>T

Select item 148842093511.

rs1488420935 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:155194737 (GRCh38)
1:155164528 (GRCh37)
Canonical SPDI:: NC_000001.11:155194736:G:T
Gene:: MUC1 (Varview), MIR92B (Varview), THBS3-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.155194737G>T, NC_000001.10:g.155164528G>T, NG_047083.1:g.19444C>A

Select item 148776257912.

rs1487762579 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:155188751 (GRCh38)
1:155161227 (GRCh37)
Canonical SPDI:: NC_000001.11:155188750:C:G,NC_000001.11:155188750:C:T
Gene:: MUC1 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.0508/108 (KOREAN)
HGVS:: NC_000001.11:g.155188751C>G, NC_000001.11:g.155188751C>T, NC_000001.10:g.155161227C>G, NC_000001.10:g.155161227C>T, NM_001371720.1:c.2565G>C, NM_001371720.1:c.2565G>A

Select item 148770252813.

rs1487702528 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:155191683 (GRCh38)
1:155161486 (GRCh37)
Canonical SPDI:: NC_000001.11:155191682:G:A
Gene:: MUC1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000001.11:g.155191683G>A, NC_000001.10:g.155161486G>A, NM_001371720.1:c.686C>T, NP_001358649.1:p.Ser229Leu

Select item 148683520714.

rs1486835207 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:155185603 (GRCh38)
1:155158079 (GRCh37)
Canonical SPDI:: NC_000001.11:155185602:G:A
Gene:: MUC1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_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_000001.11:g.155185603G>A, NC_000001.10:g.155158079G>A

Select item 148665195715.

rs1486651957 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:155186840 (GRCh38)
1:155159316 (GRCh37)
Canonical SPDI:: NC_000001.11:155186839:G:T
Gene:: MUC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.155186840G>T, NC_000001.10:g.155159316G>T

Select item 148661578016.

rs1486615780 has merged into rs768319225 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:155188514 (GRCh38)
1:155160990 (GRCh37)
Canonical SPDI:: NC_000001.11:155188513:G:A,NC_000001.11:155188513:G:T
Gene:: MUC1 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.00007/1 (ExAC)
HGVS:: NC_000001.11:g.155188514G>A, NC_000001.11:g.155188514G>T, NC_000001.10:g.155160990G>A, NC_000001.10:g.155160990G>T, NM_001204285.2:c.537C>T, NM_001204285.2:c.537C>A, NM_001204285.1:c.537C>T, NM_001204285.1:c.537C>A, NM_001204286.1:c.564C>T, NM_001204286.1:c.564C>A, NM_182741.1:c.657C>T, NM_182741.1:c.657C>A, NM_001371720.1:c.2802C>T, NM_001371720.1:c.2802C>A

Select item 148658978317.

rs1486589783 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:155191943 (GRCh38)
1:155161734 (GRCh37)
Canonical SPDI:: NC_000001.11:155191942:G:C
Gene:: MUC1 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.155191943G>C, NC_000001.10:g.155161734G>C, NM_001204285.2:c.399C>G, NM_001204285.1:c.399C>G, NM_001204286.1:c.426C>G, NM_182741.1:c.399C>G, NM_001371720.1:c.426C>G

Select item 148626218718.

rs1486262187 has merged into rs760741598 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:155188571 (GRCh38)
1:155161047 (GRCh37)
Canonical SPDI:: NC_000001.11:155188570:C:T
Gene:: MUC1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000337/4 (ALFA)
T=0.000221/29 (GnomAD)
T=0.000356/50 (GnomAD_exomes)
T=0.000652/7 (ExAC)
HGVS:: NC_000001.11:g.155188571C>T, NC_000001.10:g.155161047C>T, NM_001204285.2:c.480G>A, NM_001204285.1:c.480G>A, NM_001204286.1:c.507G>A, NM_182741.1:c.600G>A, NM_001371720.1:c.2745G>A

Select item 148622686419.

rs1486226864 has merged into rs1011992945 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:155191899 (GRCh38)
1:155161690 (GRCh37)
Canonical SPDI:: NC_000001.11:155191898:G:A,NC_000001.11:155191898:G:C
Gene:: MUC1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.155191899G>A, NC_000001.11:g.155191899G>C, NC_000001.10:g.155161690G>A, NC_000001.10:g.155161690G>C, NM_182741.1:c.443C>T, NM_182741.1:c.443C>G, NM_001371720.1:c.470C>T, NM_001371720.1:c.470C>G, NP_001358649.1:p.Pro157Leu, NP_001358649.1:p.Pro157Arg

Select item 148569178220.

rs1485691782 has merged into rs867507334 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:155188781 (GRCh38)
1:155161257 (GRCh37)
Canonical SPDI:: NC_000001.11:155188780:G:A,NC_000001.11:155188780:G:T
Gene:: MUC1 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
G=0./0 (SGDP_PRJ)
A=0.01124/2 (Qatari)
HGVS:: NC_000001.11:g.155188781G>A, NC_000001.11:g.155188781G>T, NC_000001.10:g.155161257G>A, NC_000001.10:g.155161257G>T, NM_001371720.1:c.2535C>T, NM_001371720.1:c.2535C>A, NP_001358649.1:p.His845Gln

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