SNP Links for Gene (Select 1635) - SNP

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Select item 14915075191.

rs1491507519 has merged into rs10547938 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATATAT>-,AT,ATAT,ATATATAT,ATATATATAT [Show Flanks]
Chromosome:: 4:182897520 (GRCh38)
4:183818673 (GRCh37)
Canonical SPDI:: NC_000004.12:182897507:ATATATATATATATATAT:ATATATATATAT,NC_000004.12:182897507:ATATATATATATATATAT:ATATATATATATAT,NC_000004.12:182897507:ATATATATATATATATAT:ATATATATATATATAT,NC_000004.12:182897507:ATATATATATATATATAT:ATATATATATATATATATAT,NC_000004.12:182897507:ATATATATATATATATAT:ATATATATATATATATATATAT
Gene:: DCTD (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATATAT=0./0 (ALFA)
-=0.330189/70 (Vietnamese)
-=0.381589/1911 (1000Genomes)
-=0.391484/103622 (TOPMED)
AT=0.447368/17 (GENOME_DK)
HGVS:: NC_000004.12:g.182897508AT[6], NC_000004.12:g.182897508AT[7], NC_000004.12:g.182897508AT[8], NC_000004.12:g.182897508AT[10], NC_000004.12:g.182897508AT[11], NC_000004.11:g.183818661AT[6], NC_000004.11:g.183818661AT[7], NC_000004.11:g.183818661AT[8], NC_000004.11:g.183818661AT[10], NC_000004.11:g.183818661AT[11]

Select item 14914684022.

rs1491468402 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 4:182897507 (GRCh38)
4:183818660 (GRCh37)
Canonical SPDI:: NC_000004.12:182897506:CA:
Gene:: DCTD (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000861/14 (ALFA)
-=0.000858/95 (GnomAD)
HGVS:: NC_000004.12:g.182897507_182897508del, NC_000004.11:g.183818660_183818661del

Select item 14914198103.

rs1491419810 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 4:182918687 (GRCh38)
4:183839840 (GRCh37)
Canonical SPDI:: NC_000004.12:182918686:AT:
Gene:: DCTD (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00005/4 (GnomAD)
HGVS:: NC_000004.12:g.182918687_182918688del, NC_000004.11:g.183839840_183839841del

Select item 14913689554.

rs1491368955 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->G
Chromosome:: no mapping
Canonical SPDI:

Select item 14912448485.

rs1491244848 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 4:182891956 (GRCh38)
4:183813110 (GRCh37)
Canonical SPDI:: NC_000004.12:182891956:C:CC
Gene:: DCTD (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
C=0.000311/34 (GnomAD)
HGVS:: NC_000004.12:g.182891957dup, NC_000004.11:g.183813110dup

Select item 14912410316.

rs1491241031 has merged into rs11378889 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA [Show Flanks]
Chromosome:: 4:182892636 (GRCh38)
4:183813789 (GRCh37)
Canonical SPDI:: NC_000004.12:182892627:AAAAAAAAAA:AAAAAAAA,NC_000004.12:182892627:AAAAAAAAAA:AAAAAAAAA,NC_000004.12:182892627:AAAAAAAAAA:AAAAAAAAAAA,NC_000004.12:182892627:AAAAAAAAAA:AAAAAAAAAAAA
Gene:: DCTD (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
-=0.2085/921 (Estonian)
-=0.225/9 (GENOME_DK)
-=0.2464/1234 (1000Genomes)
HGVS:: NC_000004.12:g.182892636_182892637del, NC_000004.12:g.182892637del, NC_000004.12:g.182892637dup, NC_000004.12:g.182892636_182892637dup, NC_000004.11:g.183813789_183813790del, NC_000004.11:g.183813790del, NC_000004.11:g.183813790dup, NC_000004.11:g.183813789_183813790dup

Select item 14912121947.

rs1491212194 [Homo sapiens]

Variant type:: DEL
Alleles:: AC>- [Show Flanks]
Chromosome:: 4:182891956 (GRCh38)
4:183813109 (GRCh37)
Canonical SPDI:: NC_000004.12:182891955:AC:
Gene:: DCTD (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.0002/1 (ALFA)
HGVS:: NC_000004.12:g.182891956_182891957del, NC_000004.11:g.183813109_183813110del

Select item 14911674778.

rs1491167477 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 4:182892628 (GRCh38)
4:183813782 (GRCh37)
Canonical SPDI:: NC_000004.12:182892628::G
Gene:: DCTD (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.182892628_182892629insG, NC_000004.11:g.183813781_183813782insG

Select item 14910907699.

rs1491090769 has merged into rs56147511 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA [Show Flanks]
Chromosome:: 4:182900602 (GRCh38)
4:183821755 (GRCh37)
Canonical SPDI:: NC_000004.12:182900598:AAAAAAAAAAA:AAA,NC_000004.12:182900598:AAAAAAAAAAA:AAAAAAAAA,NC_000004.12:182900598:AAAAAAAAAAA:AAAAAAAAAA,NC_000004.12:182900598:AAAAAAAAAAA:AAAAAAAAAAAA,NC_000004.12:182900598:AAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:182900598:AAAAAAAAAAA:AAAAAAAAAAAAAA
Gene:: DCTD (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
A=0.1021/105 (1000Genomes)
-=0.275/11 (GENOME_DK)
-=0.2872/1065 (TWINSUK)
-=0.2997/1155 (ALSPAC)
-=0.3136/313 (GoNL)
-=0.3227/193 (NorthernSweden)
HGVS:: NC_000004.12:g.182900602_182900609del, NC_000004.12:g.182900608_182900609del, NC_000004.12:g.182900609del, NC_000004.12:g.182900609dup, NC_000004.12:g.182900608_182900609dup, NC_000004.12:g.182900607_182900609dup, NC_000004.11:g.183821755_183821762del, NC_000004.11:g.183821761_183821762del, NC_000004.11:g.183821762del, NC_000004.11:g.183821762dup, NC_000004.11:g.183821761_183821762dup, NC_000004.11:g.183821760_183821762dup

Select item 149108337110.

rs1491083371 has merged into rs56147511 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA [Show Flanks]
Chromosome:: 4:182900602 (GRCh38)
4:183821755 (GRCh37)
Canonical SPDI:: NC_000004.12:182900598:AAAAAAAAAAA:AAA,NC_000004.12:182900598:AAAAAAAAAAA:AAAAAAAAA,NC_000004.12:182900598:AAAAAAAAAAA:AAAAAAAAAA,NC_000004.12:182900598:AAAAAAAAAAA:AAAAAAAAAAAA,NC_000004.12:182900598:AAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:182900598:AAAAAAAAAAA:AAAAAAAAAAAAAA
Gene:: DCTD (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
A=0.1021/105 (1000Genomes)
-=0.275/11 (GENOME_DK)
-=0.2872/1065 (TWINSUK)
-=0.2997/1155 (ALSPAC)
-=0.3136/313 (GoNL)
-=0.3227/193 (NorthernSweden)
HGVS:: NC_000004.12:g.182900602_182900609del, NC_000004.12:g.182900608_182900609del, NC_000004.12:g.182900609del, NC_000004.12:g.182900609dup, NC_000004.12:g.182900608_182900609dup, NC_000004.12:g.182900607_182900609dup, NC_000004.11:g.183821755_183821762del, NC_000004.11:g.183821761_183821762del, NC_000004.11:g.183821762del, NC_000004.11:g.183821762dup, NC_000004.11:g.183821761_183821762dup, NC_000004.11:g.183821760_183821762dup

Select item 149085344711.

rs1490853447 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:182915026 (GRCh38)
4:183836179 (GRCh37)
Canonical SPDI:: NC_000004.12:182915025:C:A
Gene:: DCTD (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.182915026C>A, NC_000004.11:g.183836179C>A, XM_005262778.4:c.174G>T, XM_005262778.3:c.174G>T, XM_005262778.2:c.174G>T, XM_005262778.1:c.174G>T, XM_017007820.3:c.141G>T, XM_017007820.2:c.141G>T, XM_017007820.1:c.141G>T, NM_001921.3:c.141G>T, NM_001921.2:c.141G>T, NM_001351743.2:c.141G>T, NM_001351743.1:c.141G>T, NM_001351744.2:c.141G>T, NM_001351744.1:c.141G>T, NM_001351747.2:c.141G>T, NM_001351747.1:c.141G>T, NM_001351745.2:c.141G>T, NM_001351745.1:c.141G>T, NM_001351748.2:c.141G>T, NM_001351748.1:c.141G>T, NM_001351750.2:c.141G>T, NM_001351750.1:c.141G>T, NM_001351753.2:c.141G>T, NM_001351753.1:c.141G>T, NM_001012732.2:c.174G>T, NM_001012732.1:c.174G>T, XP_005262835.1:p.Lys58Asn, XP_016863309.1:p.Lys47Asn, NP_001912.2:p.Lys47Asn, NP_001338672.1:p.Lys47Asn, NP_001338673.1:p.Lys47Asn, NP_001338676.1:p.Lys47Asn, NP_001338674.1:p.Lys47Asn, NP_001338677.1:p.Lys47Asn, NP_001338679.1:p.Lys47Asn, NP_001338682.1:p.Lys47Asn, NP_001012750.1:p.Lys58Asn

Select item 149085133312.

rs1490851333 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:182900909 (GRCh38)
4:183822062 (GRCh37)
Canonical SPDI:: NC_000004.12:182900908:T:C
Gene:: DCTD (Varview)
Functional Consequence:: 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_000004.12:g.182900909T>C, NC_000004.11:g.183822062T>C

Select item 149075690113.

rs1490756901 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 4:182916753 (GRCh38)
4:183837906 (GRCh37)
Canonical SPDI:: NC_000004.12:182916752:G:C
Gene:: DCTD (Varview)
Functional Consequence:: intron_variant,5_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_000004.12:g.182916753G>C, NC_000004.11:g.183837906G>C, XM_005262778.4:c.-55C>G, XM_005262778.3:c.-55C>G, XM_005262778.2:c.-55C>G, XM_005262778.1:c.-55C>G, XM_017007820.3:c.-213C>G, XM_017007820.2:c.-213C>G, XM_017007820.1:c.-213C>G, NM_001351743.2:c.-350C>G, NM_001351743.1:c.-350C>G, NM_001351744.2:c.-346C>G, NM_001351744.1:c.-346C>G, NM_001351747.2:c.-217C>G, NM_001351747.1:c.-217C>G, NM_001351745.2:c.-209C>G, NM_001351745.1:c.-209C>G

Select item 149065265814.

rs1490652658 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:182900692 (GRCh38)
4:183821845 (GRCh37)
Canonical SPDI:: NC_000004.12:182900691:A:G
Gene:: DCTD (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.182900692A>G, NC_000004.11:g.183821845A>G

Select item 149049672815.

rs1490496728 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 4:182918835 (GRCh38)
4:183839988 (GRCh37)
Canonical SPDI:: NC_000004.12:182918834:T:A
Gene:: DCTD (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.182918835T>A, NC_000004.11:g.183839988T>A

Select item 149042841016.

rs1490428410 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:182893886 (GRCh38)
4:183815039 (GRCh37)
Canonical SPDI:: NC_000004.12:182893885:G:A
Gene:: DCTD (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.182893886G>A, NC_000004.11:g.183815039G>A

Select item 149003470317.

rs1490034703 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 4:182900497 (GRCh38)
4:183821650 (GRCh37)
Canonical SPDI:: NC_000004.12:182900496:A:C
Gene:: DCTD (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.182900497A>C, NC_000004.11:g.183821650A>C

Select item 148989887618.

rs1489898876 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:182899096 (GRCh38)
4:183820249 (GRCh37)
Canonical SPDI:: NC_000004.12:182899095:C:T
Gene:: DCTD (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000004.12:g.182899096C>T, NC_000004.11:g.183820249C>T

Select item 148985198419.

rs1489851984 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAC>- [Show Flanks]
Chromosome:: 4:182891896 (GRCh38)
4:183813049 (GRCh37)
Canonical SPDI:: NC_000004.12:182891893:ACGAC:AC
Gene:: DCTD (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AC=0.000071/1 (ALFA)
-=0.000026/7 (TOPMED)
-=0.000029/4 (GnomAD)
HGVS:: NC_000004.12:g.182891896_182891898del, NC_000004.11:g.183813049_183813051del

Select item 148966255620.

rs1489662556 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 4:182902844 (GRCh38)
4:183823997 (GRCh37)
Canonical SPDI:: NC_000004.12:182902843:A:C
Gene:: DCTD (Varview)
Functional Consequence:: 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_000004.12:g.182902844A>C, NC_000004.11:g.183823997A>C

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