SNP for Gene (Select 7356) - SNP

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Select item 14912994291.

rs1491299429 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 11:62422454 (GRCh38)
11:62189926 (GRCh37)
Canonical SPDI:: NC_000011.10:62422453:AA:
Gene:: SCGB1A1 (Varview), LOC102723765 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000112/1 (ALFA)
-=0.000071/2 (TOMMO)
-=0.000124/14 (ExAC)
HGVS:: NC_000011.10:g.62422454_62422455del, NC_000011.9:g.62189926_62189927del, NG_021331.1:g.8420_8421del

Select item 14903711262.

rs1490371126 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 11:62421792 (GRCh38)
11:62189264 (GRCh37)
Canonical SPDI:: NC_000011.10:62421791:T:A,NC_000011.10:62421791:T:C
Gene:: SCGB1A1 (Varview), LOC102723765 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.62421792T>A, NC_000011.10:g.62421792T>C, NC_000011.9:g.62189264T>A, NC_000011.9:g.62189264T>C, NG_021331.1:g.7758T>A, NG_021331.1:g.7758T>C

Select item 14898693743.

rs1489869374 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 11:62420370 (GRCh38)
11:62187842 (GRCh37)
Canonical SPDI:: NC_000011.10:62420369:G:A,NC_000011.10:62420369:G:C
Gene:: SCGB1A1 (Varview), LOC102723765 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000011.10:g.62420370G>A, NC_000011.10:g.62420370G>C, NC_000011.9:g.62187842G>A, NC_000011.9:g.62187842G>C, NG_021331.1:g.6336G>A, NG_021331.1:g.6336G>C

Select item 14897825044.

rs1489782504 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:62423192 (GRCh38)
11:62190664 (GRCh37)
Canonical SPDI:: NC_000011.10:62423191:C:G
Gene:: SCGB1A1 (Varview), LOC102723765 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.62423192C>G, NC_000011.9:g.62190664C>G, NG_021331.1:g.9158C>G, NM_003357.5:c.*101C>G, NM_003357.4:c.*101C>G

Select item 14897061885.

rs1489706188 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:62419261 (GRCh38)
11:62186733 (GRCh37)
Canonical SPDI:: NC_000011.10:62419260:G:A
Gene:: SCGB1A1 (Varview), LOC102723765 (Varview)
Functional Consequence:: intron_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_000011.10:g.62419261G>A, NC_000011.9:g.62186733G>A, NG_021331.1:g.5227G>A

Select item 14896449046.

rs1489644904 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:62421183 (GRCh38)
11:62188655 (GRCh37)
Canonical SPDI:: NC_000011.10:62421182:A:G
Gene:: SCGB1A1 (Varview), LOC102723765 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.62421183A>G, NC_000011.9:g.62188655A>G, NG_021331.1:g.7149A>G

Select item 14883197297.

rs1488319729 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:62418740 (GRCh38)
11:62186212 (GRCh37)
Canonical SPDI:: NC_000011.10:62418739:C:T
Gene:: SCGB1A1 (Varview), LOC102723765 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.62418740C>T, NC_000011.9:g.62186212C>T, NG_021331.1:g.4706C>T

Select item 14879788798.

rs1487978879 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:62419495 (GRCh38)
11:62186967 (GRCh37)
Canonical SPDI:: NC_000011.10:62419494:G:A
Gene:: SCGB1A1 (Varview), LOC102723765 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.62419495G>A, NC_000011.9:g.62186967G>A, NG_021331.1:g.5461G>A

Select item 14878216509.

rs1487821650 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:62422332 (GRCh38)
11:62189804 (GRCh37)
Canonical SPDI:: NC_000011.10:62422331:G:A
Gene:: SCGB1A1 (Varview), LOC102723765 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.62422332G>A, NC_000011.9:g.62189804G>A, NG_021331.1:g.8298G>A, NM_003357.5:c.167G>A, NM_003357.4:c.167G>A, NP_003348.1:p.Arg56Lys

Select item 148774097210.

rs1487740972 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:62421110 (GRCh38)
11:62188582 (GRCh37)
Canonical SPDI:: NC_000011.10:62421109:A:G
Gene:: SCGB1A1 (Varview), LOC102723765 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000036/5 (GnomAD)
HGVS:: NC_000011.10:g.62421110A>G, NC_000011.9:g.62188582A>G, NG_021331.1:g.7076A>G

Select item 148772145511.

rs1487721455 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:62423268 (GRCh38)
11:62190740 (GRCh37)
Canonical SPDI:: NC_000011.10:62423267:C:G
Gene:: SCGB1A1 (Varview), LOC102723765 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.62423268C>G, NC_000011.9:g.62190740C>G, NG_021331.1:g.9234C>G

Select item 148761583412.

rs1487615834 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:62419357 (GRCh38)
11:62186829 (GRCh37)
Canonical SPDI:: NC_000011.10:62419356:A:G
Gene:: SCGB1A1 (Varview), LOC102723765 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.62419357A>G, NC_000011.9:g.62186829A>G, NG_021331.1:g.5323A>G

Select item 148696860513.

rs1486968605 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:62419053 (GRCh38)
11:62186525 (GRCh37)
Canonical SPDI:: NC_000011.10:62419052:G:A
Gene:: SCGB1A1 (Varview), LOC102723765 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
HGVS:: NC_000011.10:g.62419053G>A, NC_000011.9:g.62186525G>A, NG_021331.1:g.5019G>A, NM_003357.5:c.-43G>A, NM_003357.4:c.-43G>A

Select item 148490540214.

rs1484905402 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:62422025 (GRCh38)
11:62189497 (GRCh37)
Canonical SPDI:: NC_000011.10:62422024:A:G
Gene:: SCGB1A1 (Varview), LOC102723765 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.0004/2 (ALFA)
G=0.0004/2 (Estonian)
HGVS:: NC_000011.10:g.62422025A>G, NC_000011.9:g.62189497A>G, NG_021331.1:g.7991A>G

Select item 148464111915.

rs1484641119 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:62420115 (GRCh38)
11:62187587 (GRCh37)
Canonical SPDI:: NC_000011.10:62420114:T:C
Gene:: SCGB1A1 (Varview), LOC102723765 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.62420115T>C, NC_000011.9:g.62187587T>C, NG_021331.1:g.6081T>C

Select item 148461050216.

rs1484610502 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 11:62423522 (GRCh38)
11:62190994 (GRCh37)
Canonical SPDI:: NC_000011.10:62423521:A:C,NC_000011.10:62423521:A:G
Gene:: SCGB1A1 (Varview), LOC102723765 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
C=0.002729/5 (Korea1K)
HGVS:: NC_000011.10:g.62423522A>C, NC_000011.10:g.62423522A>G, NC_000011.9:g.62190994A>C, NC_000011.9:g.62190994A>G, NG_021331.1:g.9488A>C, NG_021331.1:g.9488A>G

Select item 148352012517.

rs1483520125 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:62419617 (GRCh38)
11:62187089 (GRCh37)
Canonical SPDI:: NC_000011.10:62419616:A:C
Gene:: SCGB1A1 (Varview), LOC102723765 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000043/6 (GnomAD)
C=0.000057/15 (TOPMED)
HGVS:: NC_000011.10:g.62419617A>C, NC_000011.9:g.62187089A>C, NG_021331.1:g.5583A>C

Select item 148349657718.

rs1483496577 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:62418151 (GRCh38)
11:62185623 (GRCh37)
Canonical SPDI:: NC_000011.10:62418150:A:C
Gene:: SCGB1A1 (Varview), LOC102723765 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.62418151A>C, NC_000011.9:g.62185623A>C, NG_021331.1:g.4117A>C, NG_079309.1:g.195A>C

Select item 148343195119.

rs1483431951 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:62420335 (GRCh38)
11:62187807 (GRCh37)
Canonical SPDI:: NC_000011.10:62420334:G:T
Gene:: SCGB1A1 (Varview), LOC102723765 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: T=0.00053/15 (TOMMO)
HGVS:: NC_000011.10:g.62420335G>T, NC_000011.9:g.62187807G>T, NG_021331.1:g.6301G>T

Select item 148271500720.

rs1482715007 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:62423605 (GRCh38)
11:62191077 (GRCh37)
Canonical SPDI:: NC_000011.10:62423604:A:G
Gene:: SCGB1A1 (Varview), LOC102723765 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.62423605A>G, NC_000011.9:g.62191077A>G, NG_021331.1:g.9571A>G

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