SNP Links for Gene (Select 253980) - SNP

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Select item 14914879641.

rs1491487964 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 16:29928217 (GRCh38)
16:29939538 (GRCh37)
Canonical SPDI:: NC_000016.10:29928216:AT:
Gene:: KCTD13 (Varview), KCTD13-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.29928217_29928218del, NC_000016.9:g.29939538_29939539del

Select item 14914126922.

rs1491412692 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 16:29928217 (GRCh38)
16:29939539 (GRCh37)
Canonical SPDI:: NC_000016.10:29928217:T:TT
Gene:: KCTD13 (Varview), KCTD13-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.29928218dup, NC_000016.9:g.29939539dup

Select item 14913852193.

rs1491385219 has merged into rs1214482858 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 16:29924734 (GRCh38)
16:29936055 (GRCh37)
Canonical SPDI:: NC_000016.10:29924720:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000016.10:29924720:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000016.10:29924720:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000016.10:29924720:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000016.10:29924720:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000016.10:29924720:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000016.10:29924720:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000016.10:29924720:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000016.10:29924720:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:29924720:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:29924720:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:29924720:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: KCTD13 (Varview), KCTD13-DT (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
T=0.03333/20 (NorthernSweden)
HGVS:: NC_000016.10:g.29924734_29924738del, NC_000016.10:g.29924735_29924738del, NC_000016.10:g.29924736_29924738del, NC_000016.10:g.29924737_29924738del, NC_000016.10:g.29924738del, NC_000016.10:g.29924738dup, NC_000016.10:g.29924737_29924738dup, NC_000016.10:g.29924736_29924738dup, NC_000016.10:g.29924735_29924738dup, NC_000016.10:g.29924734_29924738dup, NC_000016.10:g.29924733_29924738dup, NC_000016.10:g.29924721_29924738dup, NC_000016.9:g.29936055_29936059del, NC_000016.9:g.29936056_29936059del, NC_000016.9:g.29936057_29936059del, NC_000016.9:g.29936058_29936059del, NC_000016.9:g.29936059del, NC_000016.9:g.29936059dup, NC_000016.9:g.29936058_29936059dup, NC_000016.9:g.29936057_29936059dup, NC_000016.9:g.29936056_29936059dup, NC_000016.9:g.29936055_29936059dup, NC_000016.9:g.29936054_29936059dup, NC_000016.9:g.29936042_29936059dup

Select item 14913519924.

rs1491351992 has merged into rs4238958 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:29919744 (GRCh38)
16:29931065 (GRCh37)
Canonical SPDI:: NC_000016.10:29919743:C:T
Gene:: KCTD13 (Varview), ASPHD1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00324/60 (ALFA)
T=0.00361/502 (GnomAD)
T=0.007609/2014 (TOPMED)
T=0.012804/82 (1000Genomes)
T=0.073607/2080 (TOMMO)
T=0.080786/148 (Korea1K)
HGVS:: NC_000016.10:g.29919744C>T, NC_000016.9:g.29931065T>C, XM_017023106.3:c.*2110G>A, NM_001410898.1:c.*2110G>A, XR_007064865.1:n.1982C>T, XR_007064864.1:n.1933C>T, NM_198907.1:c.*325C>T

Select item 14912604495.

rs1491260449 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 16:29924720 (GRCh38)
16:29936041 (GRCh37)
Canonical SPDI:: NC_000016.10:29924719:CT:
Gene:: KCTD13 (Varview), KCTD13-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.000084/1 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.29924720_29924721del, NC_000016.9:g.29936041_29936042del

Select item 14910804746.

rs1491080474 has merged into rs35756092 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTT>-,TTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 16:29913133 (GRCh38)
16:29924454 (GRCh37)
Canonical SPDI:: NC_000016.10:29913121:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000016.10:29913121:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000016.10:29913121:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000016.10:29913121:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000016.10:29913121:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000016.10:29913121:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000016.10:29913121:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:29913121:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:29913121:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:29913121:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:29913121:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:29913121:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: KCTD13 (Varview), ASPHD1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
-=0.000026/7 (TOPMED)
HGVS:: NC_000016.10:g.29913133_29913143del, NC_000016.10:g.29913136_29913143del, NC_000016.10:g.29913140_29913143del, NC_000016.10:g.29913141_29913143del, NC_000016.10:g.29913142_29913143del, NC_000016.10:g.29913143del, NC_000016.10:g.29913143dup, NC_000016.10:g.29913142_29913143dup, NC_000016.10:g.29913141_29913143dup, NC_000016.10:g.29913140_29913143dup, NC_000016.10:g.29913137_29913143dup, NC_000016.10:g.29913143_29913144insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.29924454_29924464del, NC_000016.9:g.29924457_29924464del, NC_000016.9:g.29924461_29924464del, NC_000016.9:g.29924462_29924464del, NC_000016.9:g.29924463_29924464del, NC_000016.9:g.29924464del, NC_000016.9:g.29924464dup, NC_000016.9:g.29924463_29924464dup, NC_000016.9:g.29924462_29924464dup, NC_000016.9:g.29924461_29924464dup, NC_000016.9:g.29924458_29924464dup, NC_000016.9:g.29924464_29924465insTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14908200257.

rs1490820025 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 16:29914903 (GRCh38)
16:29926224 (GRCh37)
Canonical SPDI:: NC_000016.10:29914902:A:C
Gene:: KCTD13 (Varview), ASPHD1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.00007/1 (ALFA)
HGVS:: NC_000016.10:g.29914903A>C, NC_000016.9:g.29926224A>C

Select item 14907805888.

rs1490780588 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:29912531 (GRCh38)
16:29923852 (GRCh37)
Canonical SPDI:: NC_000016.10:29912530:C:T
Gene:: KCTD13 (Varview), ASPHD1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_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_000016.10:g.29912531C>T, NC_000016.9:g.29923852C>T

Select item 14906547089.

rs1490654708 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:29926431 (GRCh38)
16:29937752 (GRCh37)
Canonical SPDI:: NC_000016.10:29926430:C:G
Gene:: KCTD13 (Varview), KCTD13-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000016.10:g.29926431C>G, NC_000016.9:g.29937752C>G, XR_001752362.2:n.209C>G, XR_001752362.1:n.157C>G, XR_007065037.1:n.157C>G

Select item 149061686210.

rs1490616862 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 16:29916308 (GRCh38)
16:29927629 (GRCh37)
Canonical SPDI:: NC_000016.10:29916307:C:A,NC_000016.10:29916307:C:T
Gene:: KCTD13 (Varview), ASPHD1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000021/3 (GnomAD)
T=0.000566/9 (TOMMO)
HGVS:: NC_000016.10:g.29916308C>A, NC_000016.10:g.29916308C>T, NC_000016.9:g.29927629C>A, NC_000016.9:g.29927629C>T

Select item 149027802011.

rs1490278020 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:29921476 (GRCh38)
16:29932797 (GRCh37)
Canonical SPDI:: NC_000016.10:29921475:A:G
Gene:: KCTD13 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.29921476A>G, NC_000016.9:g.29932797A>G, XM_017023106.3:c.*378T>C, NM_001410898.1:c.*378T>C

Select item 148982136912.

rs1489821369 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 16:29926195 (GRCh38)
16:29937516 (GRCh37)
Canonical SPDI:: NC_000016.10:29926194:T:A
Gene:: KCTD13 (Varview), KCTD13-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant,non_coding_transcript_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_000016.10:g.29926195T>A, NC_000016.9:g.29937516T>A, NM_178863.5:c.-162A>T, NM_178863.4:c.-162A>T, NM_178863.3:c.-162A>T, XM_011545783.4:c.-162A>T, XM_011545783.3:c.-162A>T, XM_011545783.2:c.-162A>T, XM_011545783.1:c.-162A>T, XM_017023106.3:c.-162A>T, XR_950767.3:n.32A>T, XR_950767.2:n.53A>T, XR_950767.1:n.32A>T, NR_110933.2:n.32A>T, NR_110933.1:n.38A>T, NM_001410898.1:c.-162A>T, XR_007064863.1:n.32A>T

Select item 148980269313.

rs1489802693 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:29911773 (GRCh38)
16:29923094 (GRCh37)
Canonical SPDI:: NC_000016.10:29911772:C:T
Gene:: KCTD13 (Varview), ASPHD1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.29911773C>T, NC_000016.9:g.29923094C>T, NR_110933.2:n.792G>A, NR_110933.1:n.798G>A

Select item 148966196114.

rs1489661961 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 16:29926775 (GRCh38)
16:29938096 (GRCh37)
Canonical SPDI:: NC_000016.10:29926774:C:
Gene:: KCTD13 (Varview), KCTD13-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.29926775del, NC_000016.9:g.29938096del, XR_001752362.2:n.553del, XR_001752362.1:n.501del, XR_007065037.1:n.501del

Select item 148934036615.

rs1489340366 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 16:29907059 (GRCh38)
16:29918380 (GRCh37)
Canonical SPDI:: NC_000016.10:29907058:A:G,NC_000016.10:29907058:A:T
Gene:: KCTD13 (Varview), ASPHD1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000016.10:g.29907059A>G, NC_000016.10:g.29907059A>T, NC_000016.9:g.29918380A>G, NC_000016.9:g.29918380A>T, NM_178863.5:c.803T>C, NM_178863.5:c.803T>A, NM_178863.4:c.803T>C, NM_178863.4:c.803T>A, NM_178863.3:c.803T>C, NM_178863.3:c.803T>A, XM_011545783.4:c.857T>C, XM_011545783.4:c.857T>A, XM_011545783.3:c.857T>C, XM_011545783.3:c.857T>A, XM_011545783.2:c.857T>C, XM_011545783.2:c.857T>A, XM_011545783.1:c.857T>C, XM_011545783.1:c.857T>A, NR_110933.2:n.1534T>C, NR_110933.2:n.1534T>A, NR_110933.1:n.1540T>C, NR_110933.1:n.1540T>A, NP_849194.1:p.Ile268Thr, NP_849194.1:p.Ile268Asn, XP_011544085.1:p.Ile286Thr, XP_011544085.1:p.Ile286Asn

Select item 148920042716.

rs1489200427 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 16:29923860 (GRCh38)
16:29935181 (GRCh37)
Canonical SPDI:: NC_000016.10:29923859:A:C
Gene:: KCTD13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.29923860A>C, NC_000016.9:g.29935181A>C

Select item 148889027217.

rs1488890272 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:29914993 (GRCh38)
16:29926314 (GRCh37)
Canonical SPDI:: NC_000016.10:29914992:G:C
Gene:: KCTD13 (Varview), ASPHD1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_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_000016.10:g.29914993G>C, NC_000016.9:g.29926314G>C

Select item 148882498618.

rs1488824986 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 16:29922558 (GRCh38)
16:29933879 (GRCh37)
Canonical SPDI:: NC_000016.10:29922557:TT:T
Gene:: KCTD13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
-=0.000019/5 (TOPMED)
-=0.000057/8 (GnomAD)
HGVS:: NC_000016.10:g.29922559del, NC_000016.9:g.29933880del

Select item 148861147219.

rs1488611472 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 16:29914269 (GRCh38)
16:29925590 (GRCh37)
Canonical SPDI:: NC_000016.10:29914268:G:A,NC_000016.10:29914268:G:C
Gene:: KCTD13 (Varview), ASPHD1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000016.10:g.29914269G>A, NC_000016.10:g.29914269G>C, NC_000016.9:g.29925590G>A, NC_000016.9:g.29925590G>C

Select item 148836421020.

rs1488364210 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:29923356 (GRCh38)
16:29934677 (GRCh37)
Canonical SPDI:: NC_000016.10:29923355:C:T
Gene:: KCTD13 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000008/2 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000016.10:g.29923356C>T, NC_000016.9:g.29934677C>T, NM_178863.5:c.248G>A, NM_178863.4:c.248G>A, NM_178863.3:c.248G>A, XM_011545783.4:c.248G>A, XM_011545783.3:c.248G>A, XM_011545783.2:c.248G>A, XM_011545783.1:c.248G>A, XM_017023106.3:c.248G>A, XR_950767.3:n.441G>A, XR_950767.2:n.462G>A, XR_950767.1:n.441G>A, NR_110933.2:n.441G>A, NR_110933.1:n.447G>A, NM_001410898.1:c.248G>A, XR_007064863.1:n.441G>A, NP_849194.1:p.Trp83Ter, XP_011544085.1:p.Trp83Ter, XP_016878595.1:p.Trp83Ter

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