SNP Links for Gene (Select 115207) - SNP

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Select item 14907434101.

rs1490743410 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 13:76888101 (GRCh38)
13:77462236 (GRCh37)
Canonical SPDI:: NC_000013.11:76888100:G:T
Gene:: KCTD12 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.0025/11 (ALFA)
T=0.0025/11 (Estonian)
HGVS:: NC_000013.11:g.76888101G>T, NC_000013.10:g.77462236G>T

Select item 14904247252.

rs1490424725 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 13:76884925 (GRCh38)
13:77459060 (GRCh37)
Canonical SPDI:: NC_000013.11:76884924:G:A,NC_000013.11:76884924:G:C
Gene:: KCTD12 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.76884925G>A, NC_000013.11:g.76884925G>C, NC_000013.10:g.77459060G>A, NC_000013.10:g.77459060G>C, NM_138444.4:c.*246C>T, NM_138444.4:c.*246C>G, NM_138444.3:c.*246C>T, NM_138444.3:c.*246C>G

Select item 14903099683.

rs1490309968 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:76882802 (GRCh38)
13:77456937 (GRCh37)
Canonical SPDI:: NC_000013.11:76882801:C:T
Gene:: KCTD12 (Varview)
Functional Consequence:: 3_prime_UTR_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_000013.11:g.76882802C>T, NC_000013.10:g.77456937C>T, NM_138444.4:c.*2369G>A, NM_138444.3:c.*2369G>A

Select item 14901372144.

rs1490137214 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 13:76885214 (GRCh38)
13:77459349 (GRCh37)
Canonical SPDI:: NC_000013.11:76885213:T:G
Gene:: KCTD12 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.76885214T>G, NC_000013.10:g.77459349T>G, NM_138444.4:c.935A>C, NM_138444.3:c.935A>C, NP_612453.1:p.Lys312Thr

Select item 14896877965.

rs1489687796 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:76886044 (GRCh38)
13:77460179 (GRCh37)
Canonical SPDI:: NC_000013.11:76886043:G:A
Gene:: KCTD12 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.76886044G>A, NC_000013.10:g.77460179G>A, NM_138444.4:c.105C>T, NM_138444.3:c.105C>T

Select item 14896354786.

rs1489635478 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:76886404 (GRCh38)
13:77460539 (GRCh37)
Canonical SPDI:: NC_000013.11:76886403:G:A
Gene:: KCTD12 (Varview)
Functional Consequence:: 5_prime_UTR_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_000013.11:g.76886404G>A, NC_000013.10:g.77460539G>A, NM_138444.4:c.-256C>T, NM_138444.3:c.-256C>T

Select item 14893851427.

rs1489385142 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:76883277 (GRCh38)
13:77457412 (GRCh37)
Canonical SPDI:: NC_000013.11:76883276:T:C
Gene:: KCTD12 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000013.11:g.76883277T>C, NC_000013.10:g.77457412T>C, NM_138444.4:c.*1894A>G, NM_138444.3:c.*1894A>G

Select item 14893740238.

rs1489374023 has merged into rs879633611 [Homo sapiens]

Variant type:: DELINS
Alleles:: GCCGCCGCCGCCGCC>-,GCC,GCCGCC,GCCGCCGCC,GCCGCCGCCGCC,GCCGCCGCCGCCGCCGCC,GCCGCCGCCGCCGCCGCCGCC,GCCGCCGCCGCCGCCGCCGCCGCC,GCCGCCGCCGCCGCCGCCGCCGCCGCC,GCCGCCGCCGCCGCCGCCGCCGCCGCCGCC,GCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC [Show Flanks]
Chromosome:: 13:76886264 (GRCh38)
13:77460399 (GRCh37)
Canonical SPDI:: NC_000013.11:76886258:CCGCCGCCGCCGCCGCCGCC:CCGCC,NC_000013.11:76886258:CCGCCGCCGCCGCCGCCGCC:CCGCCGCC,NC_000013.11:76886258:CCGCCGCCGCCGCCGCCGCC:CCGCCGCCGCC,NC_000013.11:76886258:CCGCCGCCGCCGCCGCCGCC:CCGCCGCCGCCGCC,NC_000013.11:76886258:CCGCCGCCGCCGCCGCCGCC:CCGCCGCCGCCGCCGCC,NC_000013.11:76886258:CCGCCGCCGCCGCCGCCGCC:CCGCCGCCGCCGCCGCCGCCGCC,NC_000013.11:76886258:CCGCCGCCGCCGCCGCCGCC:CCGCCGCCGCCGCCGCCGCCGCCGCC,NC_000013.11:76886258:CCGCCGCCGCCGCCGCCGCC:CCGCCGCCGCCGCCGCCGCCGCCGCCGCC,NC_000013.11:76886258:CCGCCGCCGCCGCCGCCGCC:CCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC,NC_000013.11:76886258:CCGCCGCCGCCGCCGCCGCC:CCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC,NC_000013.11:76886258:CCGCCGCCGCCGCCGCCGCC:CCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC
Gene:: KCTD12 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCGCCGCC=0./0 (ALFA)
HGVS:: NC_000013.11:g.76886261GCC[1], NC_000013.11:g.76886261GCC[2], NC_000013.11:g.76886261GCC[3], NC_000013.11:g.76886261GCC[4], NC_000013.11:g.76886261GCC[5], NC_000013.11:g.76886261GCC[7], NC_000013.11:g.76886261GCC[8], NC_000013.11:g.76886261GCC[9], NC_000013.11:g.76886261GCC[10], NC_000013.11:g.76886261GCC[11], NC_000013.11:g.76886261GCC[12], NC_000013.10:g.77460396GCC[1], NC_000013.10:g.77460396GCC[2], NC_000013.10:g.77460396GCC[3], NC_000013.10:g.77460396GCC[4], NC_000013.10:g.77460396GCC[5], NC_000013.10:g.77460396GCC[7], NC_000013.10:g.77460396GCC[8], NC_000013.10:g.77460396GCC[9], NC_000013.10:g.77460396GCC[10], NC_000013.10:g.77460396GCC[11], NC_000013.10:g.77460396GCC[12], NM_138444.4:c.-128CGG[1], NM_138444.4:c.-128CGG[2], NM_138444.4:c.-128CGG[3], NM_138444.4:c.-128CGG[4], NM_138444.4:c.-128CGG[5], NM_138444.4:c.-128CGG[7], NM_138444.4:c.-128CGG[8], NM_138444.4:c.-128CGG[9], NM_138444.4:c.-128CGG[10], NM_138444.4:c.-128CGG[11], NM_138444.4:c.-128CGG[12], NM_138444.3:c.-128CGG[1], NM_138444.3:c.-128CGG[2], NM_138444.3:c.-128CGG[3], NM_138444.3:c.-128CGG[4], NM_138444.3:c.-128CGG[5], NM_138444.3:c.-128CGG[7], NM_138444.3:c.-128CGG[8], NM_138444.3:c.-128CGG[9], NM_138444.3:c.-128CGG[10], NM_138444.3:c.-128CGG[11], NM_138444.3:c.-128CGG[12]

Select item 14891141399.

rs1489114139 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:76883675 (GRCh38)
13:77457810 (GRCh37)
Canonical SPDI:: NC_000013.11:76883674:C:T
Gene:: KCTD12 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000447/2 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000446/2 (Estonian)
HGVS:: NC_000013.11:g.76883675C>T, NC_000013.10:g.77457810C>T, NM_138444.4:c.*1496G>A, NM_138444.3:c.*1496G>A

Select item 148899663510.

rs1488996635 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:76882777 (GRCh38)
13:77456912 (GRCh37)
Canonical SPDI:: NC_000013.11:76882776:A:G
Gene:: KCTD12 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.76882777A>G, NC_000013.10:g.77456912A>G, NM_138444.4:c.*2394T>C, NM_138444.3:c.*2394T>C

Select item 148850572811.

rs1488505728 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 13:76886561 (GRCh38)
13:77460696 (GRCh37)
Canonical SPDI:: NC_000013.11:76886560:G:A,NC_000013.11:76886560:G:T
Gene:: KCTD12 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
T=0.00006/1 (TOMMO)
HGVS:: NC_000013.11:g.76886561G>A, NC_000013.11:g.76886561G>T, NC_000013.10:g.77460696G>A, NC_000013.10:g.77460696G>T

Select item 148838120612.

rs1488381206 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:76885294 (GRCh38)
13:77459429 (GRCh37)
Canonical SPDI:: NC_000013.11:76885293:G:A
Gene:: KCTD12 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.76885294G>A, NC_000013.10:g.77459429G>A, NM_138444.4:c.855C>T, NM_138444.3:c.855C>T

Select item 148713931313.

rs1487139313 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 13:76886034 (GRCh38)
13:77460169 (GRCh37)
Canonical SPDI:: NC_000013.11:76886033:T:A
Gene:: KCTD12 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.76886034T>A, NC_000013.10:g.77460169T>A, NM_138444.4:c.115A>T, NM_138444.3:c.115A>T, NP_612453.1:p.Asn39Tyr

Select item 148694802014.

rs1486948020 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:76880952 (GRCh38)
13:77455087 (GRCh37)
Canonical SPDI:: NC_000013.11:76880951:G:A
Gene:: KCTD12 (Varview)
Functional Consequence:: 3_prime_UTR_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_000013.11:g.76880952G>A, NC_000013.10:g.77455087G>A, NM_138444.4:c.*4219C>T, NM_138444.3:c.*4219C>T

Select item 148685590515.

rs1486855905 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:76879823 (GRCh38)
13:77453958 (GRCh37)
Canonical SPDI:: NC_000013.11:76879822:C:T
Gene:: KCTD12 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
HGVS:: NC_000013.11:g.76879823C>T, NC_000013.10:g.77453958C>T

Select item 148677820716.

rs1486778207 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:76880592 (GRCh38)
13:77454727 (GRCh37)
Canonical SPDI:: NC_000013.11:76880591:T:C
Gene:: KCTD12 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000013.11:g.76880592T>C, NC_000013.10:g.77454727T>C, NM_138444.4:c.*4579A>G, NM_138444.3:c.*4579A>G

Select item 148669109417.

rs1486691094 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:76880946 (GRCh38)
13:77455081 (GRCh37)
Canonical SPDI:: NC_000013.11:76880945:T:C
Gene:: KCTD12 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.76880946T>C, NC_000013.10:g.77455081T>C, NM_138444.4:c.*4225A>G, NM_138444.3:c.*4225A>G

Select item 148655633918.

rs1486556339 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:76887320 (GRCh38)
13:77461455 (GRCh37)
Canonical SPDI:: NC_000013.11:76887319:A:G
Gene:: KCTD12 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000026/7 (TOPMED)
HGVS:: NC_000013.11:g.76887320A>G, NC_000013.10:g.77461455A>G

Select item 148634671219.

rs1486346712 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:76882083 (GRCh38)
13:77456218 (GRCh37)
Canonical SPDI:: NC_000013.11:76882082:T:C
Gene:: KCTD12 (Varview)
Functional Consequence:: 3_prime_UTR_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_000013.11:g.76882083T>C, NC_000013.10:g.77456218T>C, NM_138444.4:c.*3088A>G, NM_138444.3:c.*3088A>G

Select item 148593726120.

rs1485937261 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 13:76885815 (GRCh38)
13:77459950 (GRCh37)
Canonical SPDI:: NC_000013.11:76885814:G:C
Gene:: KCTD12 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.76885815G>C, NC_000013.10:g.77459950G>C, NM_138444.4:c.334C>G, NM_138444.3:c.334C>G, NP_612453.1:p.Arg112Gly

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