SNP Links for Gene (Select 286256) - SNP

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 9:136952039 (GRCh38)
9:139846491 (GRCh37)
Canonical SPDI:: NC_000009.12:136952038:C:G
Gene:: LCN12 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.136952039C>G, NC_000009.11:g.139846491C>G, XM_011518560.3:c.-13C>G, XM_011518560.2:c.-13C>G, XM_011518560.1:c.-13C>G

Select item 14893211977.

rs1489321197 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:136948547 (GRCh38)
9:139842999 (GRCh37)
Canonical SPDI:: NC_000009.12:136948546:A:G
Gene:: LCN12 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.0006/10 (TOMMO)
G=0.0065/19 (KOREAN)
HGVS:: NC_000009.12:g.136948547A>G, NC_000009.11:g.139842999A>G, NG_029580.1:g.8302A>G

Select item 14888700558.

rs1488870055 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:136949020 (GRCh38)
9:139843472 (GRCh37)
Canonical SPDI:: NC_000009.12:136949019:C:T
Gene:: LCN12 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000054/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000223/1 (Estonian)
HGVS:: NC_000009.12:g.136949020C>T, NC_000009.11:g.139843472C>T

Select item 14888144899.

rs1488814489 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:136950667 (GRCh38)
9:139845119 (GRCh37)
Canonical SPDI:: NC_000009.12:136950666:T:C
Gene:: LCN12 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000029/4 (GnomAD)
HGVS:: NC_000009.12:g.136950667T>C, NC_000009.11:g.139845119T>C

Select item 148870184110.

rs1488701841 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 9:136954161 (GRCh38)
9:139848613 (GRCh37)
Canonical SPDI:: NC_000009.12:136954160:C:G
Gene:: LCN12 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
HGVS:: NC_000009.12:g.136954161C>G, NC_000009.11:g.139848613C>G, XM_006717065.4:c.456C>G, XM_006717065.3:c.456C>G, XM_006717065.2:c.456C>G, XM_006717065.1:c.456C>G, NM_178536.4:c.456C>G, NM_178536.3:c.456C>G, XM_011518560.3:c.537C>G, XM_011518560.2:c.537C>G, XM_011518560.1:c.537C>G, XM_011518562.3:c.456C>G, XM_011518562.2:c.456C>G, XM_011518562.1:c.456C>G, XR_001746279.3:n.511C>G, XR_001746279.2:n.645C>G, XR_001746279.1:n.644C>G, XR_001746280.3:n.394C>G, XR_001746280.2:n.523C>G, XR_001746280.1:n.522C>G, XM_017014631.2:c.456C>G, XM_017014631.1:c.540C>G, XR_001746278.2:n.511C>G, XR_001746278.1:n.645C>G, XR_007061284.1:n.818C>G, XM_047423247.1:c.569C>G, XP_006717128.1:p.Ser152Arg, NP_848631.2:p.Ser152Arg, XP_011516862.1:p.Ser179Arg, XP_011516864.1:p.Ser152Arg, XP_016870120.2:p.Ser152Arg, XP_047279203.1:p.Ala190Gly

Select item 148867821711.

rs1488678217 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 9:136952947 (GRCh38)
9:139847399 (GRCh37)
Canonical SPDI:: NC_000009.12:136952946:A:C
Gene:: LCN12 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.136952947A>C, NC_000009.11:g.139847399A>C, XM_006717065.4:c.170A>C, XM_006717065.3:c.170A>C, XM_006717065.2:c.170A>C, XM_006717065.1:c.170A>C, NM_178536.4:c.170A>C, NM_178536.3:c.170A>C, XM_011518560.3:c.251A>C, XM_011518560.2:c.251A>C, XM_011518560.1:c.251A>C, XM_011518562.3:c.170A>C, XM_011518562.2:c.170A>C, XM_011518562.1:c.170A>C, XR_001746279.3:n.225A>C, XR_001746279.2:n.359A>C, XR_001746279.1:n.358A>C, XR_001746280.3:n.225A>C, XR_001746280.2:n.354A>C, XR_001746280.1:n.353A>C, XM_017014631.2:c.170A>C, XM_017014631.1:c.254A>C, XR_001746278.2:n.225A>C, XR_001746278.1:n.359A>C, XR_007061284.1:n.649A>C, XM_047423247.1:c.170A>C, XP_006717128.1:p.His57Pro, NP_848631.2:p.His57Pro, XP_011516862.1:p.His84Pro, XP_011516864.1:p.His57Pro, XP_016870120.2:p.His57Pro, XP_047279203.1:p.His57Pro

Select item 148853190612.

rs1488531906 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:136955666 (GRCh38)
9:139850118 (GRCh37)
Canonical SPDI:: NC_000009.12:136955665:T:C
Gene:: LCN12 (Varview)
Functional Consequence:: non_coding_transcript_variant,downstream_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000036/5 (GnomAD)
HGVS:: NC_000009.12:g.136955666T>C, NC_000009.11:g.139850118T>C, XM_006717065.4:c.*893T>C, XM_011518560.3:c.*893T>C, XM_011518562.3:c.*893T>C, XR_001746279.3:n.1004T>C, XR_001746280.3:n.887T>C, XM_017014631.2:c.*893T>C, XR_001746278.2:n.1472T>C, XR_007061284.1:n.1311T>C

Select item 148848902013.

rs1488489020 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:136949702 (GRCh38)
9:139844154 (GRCh37)
Canonical SPDI:: NC_000009.12:136949701:G:A
Gene:: LCN12 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
HGVS:: NC_000009.12:g.136949702G>A, NC_000009.11:g.139844154G>A

Select item 148840907714.

rs1488409077 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:136953484 (GRCh38)
9:139847936 (GRCh37)
Canonical SPDI:: NC_000009.12:136953483:C:T
Gene:: LCN12 (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_000009.12:g.136953484C>T, NC_000009.11:g.139847936C>T

Select item 148821659715.

rs1488216597 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 9:136947654 (GRCh38)
9:139842106 (GRCh37)
Canonical SPDI:: NC_000009.12:136947653:A:C
Gene:: LCN12 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.136947654A>C, NC_000009.11:g.139842106A>C, NG_029580.1:g.7409A>C

Select item 148792057716.

rs1487920577 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 9:136950695 (GRCh38)
9:139845147 (GRCh37)
Canonical SPDI:: NC_000009.12:136950694:C:A,NC_000009.12:136950694:C:T
Gene:: LCN12 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000009.12:g.136950695C>A, NC_000009.12:g.136950695C>T, NC_000009.11:g.139845147C>A, NC_000009.11:g.139845147C>T

Select item 148740277517.

rs1487402775 [Homo sapiens]

Variant type:: DEL
Alleles:: CCT>- [Show Flanks]
Chromosome:: 9:136953346 (GRCh38)
9:139847798 (GRCh37)
Canonical SPDI:: NC_000009.12:136953345:CCT:
Gene:: LCN12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.00031/15 (GnomAD)
-=0.00436/73 (TOMMO)
HGVS:: NC_000009.12:g.136953346_136953348del, NC_000009.11:g.139847798_139847800del

Select item 148709478518.

rs1487094785 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:136950642 (GRCh38)
9:139845094 (GRCh37)
Canonical SPDI:: NC_000009.12:136950641:A:G
Gene:: LCN12 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000142/2 (ALFA)
G=0.000038/10 (TOPMED)
G=0.000043/6 (GnomAD)
G=0.000312/2 (1000Genomes)
HGVS:: NC_000009.12:g.136950642A>G, NC_000009.11:g.139845094A>G

Select item 148620267519.

rs1486202675 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:136955443 (GRCh38)
9:139849895 (GRCh37)
Canonical SPDI:: NC_000009.12:136955442:G:A
Gene:: LCN12 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000009.12:g.136955443G>A, NC_000009.11:g.139849895G>A, XM_006717065.4:c.*670G>A, XM_006717065.3:c.*670G>A, XM_006717065.2:c.*670G>A, XM_006717065.1:c.*670G>A, NM_178536.4:c.*44G>A, NM_178536.3:c.*44G>A, XM_011518560.3:c.*670G>A, XM_011518560.2:c.*670G>A, XM_011518560.1:c.*670G>A, XM_011518562.3:c.*670G>A, XM_011518562.2:c.*670G>A, XM_011518562.1:c.*670G>A, XR_001746279.3:n.781G>A, XR_001746279.2:n.915G>A, XR_001746279.1:n.914G>A, XR_001746280.3:n.664G>A, XR_001746280.2:n.793G>A, XR_001746280.1:n.792G>A, XM_017014631.2:c.*670G>A, XM_017014631.1:c.*670G>A, XR_001746278.2:n.1249G>A, XR_001746278.1:n.1383G>A, XR_007061284.1:n.1088G>A

Select item 148608960020.

rs1486089600 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:136954292 (GRCh38)
9:139848744 (GRCh37)
Canonical SPDI:: NC_000009.12:136954291:G:A
Gene:: LCN12 (Varview)
Functional Consequence:: intron_variant,missense_variant,3_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.136954292G>A, NC_000009.11:g.139848744G>A, XM_006717065.4:c.587G>A, XM_006717065.3:c.587G>A, XM_006717065.2:c.587G>A, XM_006717065.1:c.587G>A, XM_011518560.3:c.668G>A, XM_011518560.2:c.668G>A, XM_011518560.1:c.668G>A, XM_011518562.3:c.587G>A, XM_011518562.2:c.587G>A, XM_011518562.1:c.587G>A, XR_001746278.2:n.642G>A, XR_001746278.1:n.776G>A, XM_047423247.1:c.*40G>A, XP_006717128.1:p.Gly196Asp, XP_011516862.1:p.Gly223Asp, XP_011516864.1:p.Gly196Asp

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