SNP Links for Gene (Select 138009) - SNP

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Select item 14911797031.

rs1491179703 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 8:87872516 (GRCh38)
8:88884744 (GRCh37)
Canonical SPDI:: NC_000008.11:87872515:AG:
Gene:: DCAF4L2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.001855/22 (ALFA)
-=0.001062/18 (TOMMO)
-=0.001281/145 (GnomAD)
-=0.002732/5 (Korea1K)
HGVS:: NC_000008.11:g.87872516_87872517del, NC_000008.10:g.88884744_88884745del, NM_152418.4:c.*267_*268del, NM_152418.3:c.*267_*268del

Select item 14908480892.

rs1490848089 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:87875488 (GRCh38)
8:88887716 (GRCh37)
Canonical SPDI:: NC_000008.11:87875487:A:G
Gene:: DCAF4L2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.87875488A>G, NC_000008.10:g.88887716A>G

Select item 14907713473.

rs1490771347 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 8:87873750 (GRCh38)
8:88885978 (GRCh37)
Canonical SPDI:: NC_000008.11:87873749:A:C
Gene:: DCAF4L2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.87873750A>C, NC_000008.10:g.88885978A>C, NM_152418.4:c.222T>G, NM_152418.3:c.222T>G, NP_689631.1:p.Phe74Leu

Select item 14900303034.

rs1490030303 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:87874814 (GRCh38)
8:88887042 (GRCh37)
Canonical SPDI:: NC_000008.11:87874813:C:T
Gene:: DCAF4L2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
T=0.000156/1 (1000Genomes)
HGVS:: NC_000008.11:g.87874814C>T, NC_000008.10:g.88887042C>T

Select item 14898205505.

rs1489820550 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 8:87875121 (GRCh38)
8:88887349 (GRCh37)
Canonical SPDI:: NC_000008.11:87875120:G:
Gene:: DCAF4L2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.87875121del, NC_000008.10:g.88887349del

Select item 14897836786.

rs1489783678 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:87874407 (GRCh38)
8:88886635 (GRCh37)
Canonical SPDI:: NC_000008.11:87874406:C:T
Gene:: DCAF4L2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.87874407C>T, NC_000008.10:g.88886635C>T

Select item 14894971377.

rs1489497137 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 8:87875177 (GRCh38)
8:88887405 (GRCh37)
Canonical SPDI:: NC_000008.11:87875176:T:A
Gene:: DCAF4L2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_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_000008.11:g.87875177T>A, NC_000008.10:g.88887405T>A

Select item 14894714468.

rs1489471446 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 8:87874757 (GRCh38)
8:88886985 (GRCh37)
Canonical SPDI:: NC_000008.11:87874756:T:G
Gene:: DCAF4L2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.87874757T>G, NC_000008.10:g.88886985T>G

Select item 14893850899.

rs1489385089 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 8:87874419 (GRCh38)
8:88886647 (GRCh37)
Canonical SPDI:: NC_000008.11:87874418:GG:G
Gene:: DCAF4L2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
-=0.000014/2 (GnomAD)
-=0.00003/8 (TOPMED)
HGVS:: NC_000008.11:g.87874420del, NC_000008.10:g.88886648del

Select item 148790038910.

rs1487900389 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:87875772 (GRCh38)
8:88888000 (GRCh37)
Canonical SPDI:: NC_000008.11:87875771:C:T
Gene:: DCAF4L2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.87875772C>T, NC_000008.10:g.88888000C>T

Select item 148689738311.

rs1486897383 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:87870519 (GRCh38)
8:88882747 (GRCh37)
Canonical SPDI:: NC_000008.11:87870518:G:A
Gene:: DCAF4L2 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_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_000008.11:g.87870519G>A, NC_000008.10:g.88882747G>A

Select item 148636136912.

rs1486361369 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:87870694 (GRCh38)
8:88882922 (GRCh37)
Canonical SPDI:: NC_000008.11:87870693:T:C
Gene:: DCAF4L2 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.87870694T>C, NC_000008.10:g.88882922T>C

Select item 148566140413.

rs1485661404 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:87874215 (GRCh38)
8:88886443 (GRCh37)
Canonical SPDI:: NC_000008.11:87874214:T:C
Gene:: DCAF4L2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.87874215T>C, NC_000008.10:g.88886443T>C

Select item 148561071314.

rs1485610713 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:87871964 (GRCh38)
8:88884192 (GRCh37)
Canonical SPDI:: NC_000008.11:87871963:C:T
Gene:: DCAF4L2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
T=0.000708/12 (TOMMO)
T=0.001092/2 (Korea1K)
HGVS:: NC_000008.11:g.87871964C>T, NC_000008.10:g.88884192C>T, NM_152418.4:c.*820G>A, NM_152418.3:c.*820G>A

Select item 148535577915.

rs1485355779 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 8:87873517 (GRCh38)
8:88885745 (GRCh37)
Canonical SPDI:: NC_000008.11:87873516:G:C
Gene:: DCAF4L2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.87873517G>C, NC_000008.10:g.88885745G>C, NM_152418.4:c.455C>G, NM_152418.3:c.455C>G, NP_689631.1:p.Thr152Ser

Select item 148520701716.

rs1485207017 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:87875298 (GRCh38)
8:88887526 (GRCh37)
Canonical SPDI:: NC_000008.11:87875297:C:T
Gene:: DCAF4L2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.87875298C>T, NC_000008.10:g.88887526C>T

Select item 148469298317.

rs1484692983 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:87870508 (GRCh38)
8:88882736 (GRCh37)
Canonical SPDI:: NC_000008.11:87870507:T:C
Gene:: DCAF4L2 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000008.11:g.87870508T>C, NC_000008.10:g.88882736T>C

Select item 148369211018.

rs1483692110 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 8:87873211 (GRCh38)
8:88885439 (GRCh37)
Canonical SPDI:: NC_000008.11:87873210:C:A,NC_000008.11:87873210:C:T
Gene:: DCAF4L2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000029/4 (GnomAD)
HGVS:: NC_000008.11:g.87873211C>A, NC_000008.11:g.87873211C>T, NC_000008.10:g.88885439C>A, NC_000008.10:g.88885439C>T, NM_152418.4:c.761G>T, NM_152418.4:c.761G>A, NM_152418.3:c.761G>T, NM_152418.3:c.761G>A, NP_689631.1:p.Arg254Leu, NP_689631.1:p.Arg254His

Select item 148367654219.

rs1483676542 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:87875305 (GRCh38)
8:88887533 (GRCh37)
Canonical SPDI:: NC_000008.11:87875304:C:T
Gene:: DCAF4L2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
T=0.000043/6 (GnomAD)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000008.11:g.87875305C>T, NC_000008.10:g.88887533C>T

Select item 148351908920.

rs1483519089 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:87876019 (GRCh38)
8:88888247 (GRCh37)
Canonical SPDI:: NC_000008.11:87876018:T:C
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000008.11:g.87876019T>C, NC_000008.10:g.88888247T>C

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