SNP Links for Gene (Select 338761) - SNP

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Select item 14912636131.

rs1491263613 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T [Show Flanks]
Chromosome:: 12:49337757 (GRCh38)
12:49731540 (GRCh37)
Canonical SPDI:: NC_000012.12:49337755:TTT:T,NC_000012.12:49337755:TTT:TT
Gene:: C1QL4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000924/15 (TOMMO)
-=0.016162/1964 (GnomAD)
HGVS:: NC_000012.12:g.49337757_49337758del, NC_000012.12:g.49337758del, NC_000012.11:g.49731540_49731541del, NC_000012.11:g.49731541del

Select item 14911766112.

rs1491176611 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 12:49337756 (GRCh38)
12:49731540 (GRCh37)
Canonical SPDI:: NC_000012.12:49337756::G
Gene:: C1QL4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: G=0.001848/31 (TOMMO)
G=0.006593/12 (Korea1K)
G=0.027764/3044 (GnomAD)
G=0.030201/18 (NorthernSweden)
HGVS:: NC_000012.12:g.49337756_49337757insG, NC_000012.11:g.49731539_49731540insG

Select item 14907047593.

rs1490704759 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:49336423 (GRCh38)
12:49730206 (GRCh37)
Canonical SPDI:: NC_000012.12:49336422:G:A
Gene:: C1QL4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.49336423G>A, NC_000012.11:g.49730206G>A, XM_011538270.3:c.55C>T, XM_011538270.2:c.55C>T, XM_011538270.1:c.55C>T, NM_001008223.2:c.55C>T, NM_001008223.1:c.55C>T, XP_011536572.1:p.Pro19Ser, NP_001008224.1:p.Pro19Ser

Select item 14906168424.

rs1490616842 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 12:49332969 (GRCh38)
12:49726752 (GRCh37)
Canonical SPDI:: NC_000012.12:49332968:G:A,NC_000012.12:49332968:G:C
Gene:: C1QL4 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.49332969G>A, NC_000012.12:g.49332969G>C, NC_000012.11:g.49726752G>A, NC_000012.11:g.49726752G>C, NM_001008223.2:c.*85C>T, NM_001008223.2:c.*85C>G, NM_001008223.1:c.*85C>T, NM_001008223.1:c.*85C>G

Select item 14905408135.

rs1490540813 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:49336167 (GRCh38)
12:49729950 (GRCh37)
Canonical SPDI:: NC_000012.12:49336166:G:A
Gene:: C1QL4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.49336167G>A, NC_000012.11:g.49729950G>A, XM_011538270.3:c.311C>T, XM_011538270.2:c.311C>T, XM_011538270.1:c.311C>T, NM_001008223.2:c.311C>T, NM_001008223.1:c.311C>T, XP_011536572.1:p.Ala104Val, NP_001008224.1:p.Ala104Val

Select item 14903670216.

rs1490367021 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:49337965 (GRCh38)
12:49731748 (GRCh37)
Canonical SPDI:: NC_000012.12:49337964:C:T
Gene:: C1QL4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.49337965C>T, NC_000012.11:g.49731748C>T

Select item 14902097457.

rs1490209745 [Homo sapiens]

Variant type:: DEL
Alleles:: TTTGT>- [Show Flanks]
Chromosome:: 12:49337756 (GRCh38)
12:49731539 (GRCh37)
Canonical SPDI:: NC_000012.12:49337755:TTTGT:
Gene:: C1QL4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000033/4 (GnomAD)
HGVS:: NC_000012.12:g.49337756_49337760del, NC_000012.11:g.49731539_49731543del

Select item 14890380378.

rs1489038037 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:49332172 (GRCh38)
12:49725955 (GRCh37)
Canonical SPDI:: NC_000012.12:49332171:C:T
Gene:: TROAP (Varview), C1QL4 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_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_000012.12:g.49332172C>T, NC_000012.11:g.49725955C>T

Select item 14889508569.

rs1488950856 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 12:49334906 (GRCh38)
12:49728690 (GRCh37)
Canonical SPDI:: NC_000012.12:49334906:A:AA
Gene:: C1QL4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: A=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.49334907dup, NC_000012.11:g.49728690dup

Select item 148886313910.

rs1488863139 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:49337369 (GRCh38)
12:49731152 (GRCh37)
Canonical SPDI:: NC_000012.12:49337368:C:T
Gene:: C1QL4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000015/2 (GnomAD)
HGVS:: NC_000012.12:g.49337369C>T, NC_000012.11:g.49731152C>T

Select item 148851551411.

rs1488515514 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:49333390 (GRCh38)
12:49727173 (GRCh37)
Canonical SPDI:: NC_000012.12:49333389:C:T
Gene:: C1QL4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000012.12:g.49333390C>T, NC_000012.11:g.49727173C>T

Select item 148814004012.

rs1488140040 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 12:49332092 (GRCh38)
12:49725875 (GRCh37)
Canonical SPDI:: NC_000012.12:49332091:T:C,NC_000012.12:49332091:T:G
Gene:: TROAP (Varview), C1QL4 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
G=0.00004/1 (TOMMO)
HGVS:: NC_000012.12:g.49332092T>C, NC_000012.12:g.49332092T>G, NC_000012.11:g.49725875T>C, NC_000012.11:g.49725875T>G

Select item 148734110913.

rs1487341109 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 12:49338498 (GRCh38)
12:49732281 (GRCh37)
Canonical SPDI:: NC_000012.12:49338497:A:T
Gene:: C1QL4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000012.12:g.49338498A>T, NC_000012.11:g.49732281A>T

Select item 148698035514.

rs1486980355 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 12:49335314 (GRCh38)
12:49729097 (GRCh37)
Canonical SPDI:: NC_000012.12:49335313:T:A
Gene:: C1QL4 (Varview)
Functional Consequence:: intron_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_000012.12:g.49335314T>A, NC_000012.11:g.49729097T>A

Select item 148602883415.

rs1486028834 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:49333167 (GRCh38)
12:49726950 (GRCh37)
Canonical SPDI:: NC_000012.12:49333166:G:A
Gene:: C1QL4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.49333167G>A, NC_000012.11:g.49726950G>A, XM_011538270.3:c.604C>T, XM_011538270.2:c.604C>T, XM_011538270.1:c.604C>T, NM_001008223.2:c.604C>T, NM_001008223.1:c.604C>T

Select item 148584965516.

rs1485849655 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 12:49336992 (GRCh38)
12:49730775 (GRCh37)
Canonical SPDI:: NC_000012.12:49336991:A:C
Gene:: C1QL4 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000043/6 (GnomAD)
C=0.000064/17 (TOPMED)
HGVS:: NC_000012.12:g.49336992A>C, NC_000012.11:g.49730775A>C, XM_011538270.3:c.-515T>G, XM_011538270.2:c.-515T>G, XM_011538270.1:c.-515T>G, NM_001008223.2:c.-515T>G, NM_001008223.1:c.-515T>G

Select item 148520130817.

rs1485201308 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTTTGTGTG>- [Show Flanks]
Chromosome:: 12:49337754 (GRCh38)
12:49731537 (GRCh37)
Canonical SPDI:: NC_000012.12:49337747:TGTGTGTGTTTGTGTG:TGTGTG
Gene:: C1QL4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TGTGTG=0.000337/4 (ALFA)
-=0.000175/23 (GnomAD)
HGVS:: NC_000012.12:g.49337754_49337763del, NC_000012.11:g.49731537_49731546del

Select item 148420985918.

rs1484209859 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:49334705 (GRCh38)
12:49728488 (GRCh37)
Canonical SPDI:: NC_000012.12:49334704:C:T
Gene:: C1QL4 (Varview)
Functional Consequence:: intron_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_000012.12:g.49334705C>T, NC_000012.11:g.49728488C>T

Select item 148420011219.

rs1484200112 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:49337269 (GRCh38)
12:49731052 (GRCh37)
Canonical SPDI:: NC_000012.12:49337268:G:A
Gene:: C1QL4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000012.12:g.49337269G>A, NC_000012.11:g.49731052G>A

Select item 148375764820.

rs1483757648 [Homo sapiens]

Variant type:: DELINS
Alleles:: AACA>- [Show Flanks]
Chromosome:: 12:49337539 (GRCh38)
12:49731322 (GRCh37)
Canonical SPDI:: NC_000012.12:49337531:ACAAACAAACA:ACAAACA
Gene:: C1QL4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACAAACA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.49337535AACA[1], NC_000012.11:g.49731318AACA[1]

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