SNP Links for Gene (Select 152641) - SNP

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Select item 14894584321.

rs1489458432 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 4:183097587 (GRCh38)
4:184018740 (GRCh37)
Canonical SPDI:: NC_000004.12:183097586:C:G,NC_000004.12:183097586:C:T
Gene:: WWC2 (Varview), WWC2-AS2 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000004.12:g.183097587C>G, NC_000004.12:g.183097587C>T, NC_000004.11:g.184018740C>G, NC_000004.11:g.184018740C>T, NG_051586.1:g.3953C>G, NG_051586.1:g.3953C>T, NM_153008.3:c.*398G>C, NM_153008.3:c.*398G>A, NR_024008.1:n.1613G>C, NR_024008.1:n.1613G>A, NM_153008.1:c.*398G>C, NM_153008.1:c.*398G>A

Select item 14891589852.

rs1489158985 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 4:183098458 (GRCh38)
4:184019611 (GRCh37)
Canonical SPDI:: NC_000004.12:183098457:G:A,NC_000004.12:183098457:G:C
Gene:: WWC2 (Varview), WWC2-AS2 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.183098458G>A, NC_000004.12:g.183098458G>C, NC_000004.11:g.184019611G>A, NC_000004.11:g.184019611G>C, NG_051586.1:g.4824G>A, NG_051586.1:g.4824G>C, NM_153008.3:c.130C>T, NM_153008.3:c.130C>G, NM_153008.2:c.130C>T, NM_153008.2:c.130C>G, NR_024008.1:n.742C>T, NR_024008.1:n.742C>G, NM_153008.1:c.130C>T, NM_153008.1:c.130C>G

Select item 14890468593.

rs1489046859 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 4:183098192 (GRCh38)
4:184019345 (GRCh37)
Canonical SPDI:: NC_000004.12:183098191:C:A,NC_000004.12:183098191:C:T
Gene:: WWC2 (Varview), WWC2-AS2 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00007/1 (ALFA)
T=0.00007/4 (GnomAD_exomes)
A=0.00022/1 (Estonian)
HGVS:: NC_000004.12:g.183098192C>A, NC_000004.12:g.183098192C>T, NC_000004.11:g.184019345C>A, NC_000004.11:g.184019345C>T, NG_051586.1:g.4558C>A, NG_051586.1:g.4558C>T, NG_074142.1:g.277C>A, NG_074142.1:g.277C>T, NM_153008.3:c.396G>T, NM_153008.3:c.396G>A, NM_153008.2:c.396G>T, NM_153008.2:c.396G>A, NR_024008.1:n.1008G>T, NR_024008.1:n.1008G>A, NM_153008.1:c.396G>T, NM_153008.1:c.396G>A

Select item 14890273024.

rs1489027302 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:183100917 (GRCh38)
4:184022070 (GRCh37)
Canonical SPDI:: NC_000004.12:183100916:A:G
Gene:: WWC2 (Varview), WWC2-AS2 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_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_000004.12:g.183100917A>G, NC_000004.11:g.184022070A>G, NG_051586.1:g.7283A>G

Select item 14887091365.

rs1488709136 has merged into rs936499636 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT [Show Flanks]
Chromosome:: 4:183100417 (GRCh38)
4:184021570 (GRCh37)
Canonical SPDI:: NC_000004.12:183100416:TTTTTTTT:TTTTTTT,NC_000004.12:183100416:TTTTTTTT:TTTTTTTTT
Gene:: WWC2 (Varview), WWC2-AS2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000034/9 (TOPMED)
HGVS:: NC_000004.12:g.183100424del, NC_000004.12:g.183100424dup, NC_000004.11:g.184021577del, NC_000004.11:g.184021577dup, NG_051586.1:g.6790del, NG_051586.1:g.6790dup

Select item 14885292396.

rs1488529239 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:183098080 (GRCh38)
4:184019233 (GRCh37)
Canonical SPDI:: NC_000004.12:183098079:C:T
Gene:: WWC2 (Varview), WWC2-AS2 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000004.12:g.183098080C>T, NC_000004.11:g.184019233C>T, NG_051586.1:g.4446C>T, NG_074142.1:g.165C>T, NM_153008.3:c.508G>A, NM_153008.2:c.508G>A, NR_024008.1:n.1120G>A, NM_153008.1:c.508G>A

Select item 14880704877.

rs1488070487 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:183099487 (GRCh38)
4:184020640 (GRCh37)
Canonical SPDI:: NC_000004.12:183099486:C:T
Gene:: WWC2 (Varview), WWC2-AS2 (Varview)
Functional Consequence:: upstream_transcript_variant,5_prime_UTR_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.183099487C>T, NC_000004.11:g.184020640C>T, NG_051586.1:g.5853C>T, NM_024949.6:c.-5C>T, NM_024949.5:c.-5C>T, NM_001410864.1:c.-5C>T, XM_011532269.4:c.-5C>T, XM_024454225.2:c.-189C>T, XM_047416198.1:c.-189C>T, XM_047416199.1:c.-5C>T

Select item 14878515368.

rs1487851536 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGA>- [Show Flanks]
Chromosome:: 4:183098015 (GRCh38)
4:184019168 (GRCh37)
Canonical SPDI:: NC_000004.12:183098008:AGAAGAAGA:AGAAGA
Gene:: WWC2 (Varview), WWC2-AS2 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAAGA=0.000084/1 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
-=0.000028/1 (GnomAD_exomes)
-=0.000035/1 (TOMMO)
-=0.000156/1 (1000Genomes)
HGVS:: NC_000004.12:g.183098009AGA[2], NC_000004.11:g.184019162AGA[2], NG_051586.1:g.4375AGA[2], NG_074142.1:g.94AGA[2], NM_153008.3:c.571TCT[2], NM_153008.2:c.571TCT[2], NR_024008.1:n.1183TCT[2], NM_153008.1:c.571TCT[2]

Select item 14872167829.

rs1487216782 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:183099453 (GRCh38)
4:184020606 (GRCh37)
Canonical SPDI:: NC_000004.12:183099452:T:C
Gene:: WWC2 (Varview), WWC2-AS2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000004.12:g.183099453T>C, NC_000004.11:g.184020606T>C, NG_051586.1:g.5819T>C, NM_024949.6:c.-39T>C, NM_024949.5:c.-39T>C, NM_001410864.1:c.-39T>C, XM_011532269.4:c.-39T>C, XM_024454225.2:c.-223T>C, XM_047416198.1:c.-223T>C, XM_047416199.1:c.-39T>C

Select item 148707202610.

rs1487072026 [Homo sapiens]

Variant type:: DELINS
Alleles:: CGCGGG>- [Show Flanks]
Chromosome:: 4:183100064 (GRCh38)
4:184021217 (GRCh37)
Canonical SPDI:: NC_000004.12:183100061:GGCGCGGG:GG
Gene:: WWC2 (Varview), WWC2-AS2 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000004.12:g.183100064_183100069del, NC_000004.11:g.184021217_184021222del, NG_051586.1:g.6430_6435del

Select item 148674713511.

rs1486747135 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:183100058 (GRCh38)
4:184021211 (GRCh37)
Canonical SPDI:: NC_000004.12:183100057:C:T
Gene:: WWC2 (Varview), WWC2-AS2 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000084/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000004.12:g.183100058C>T, NC_000004.11:g.184021211C>T, NG_051586.1:g.6424C>T

Select item 148659666212.

rs1486596662 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 4:183096701 (GRCh38)
4:184017855 (GRCh37)
Canonical SPDI:: NC_000004.12:183096701:GG:GGG
Gene:: WWC2-AS2 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: GGG=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.183096703dup, NC_000004.11:g.184017856dup, NG_051586.1:g.3069dup, NG_075667.1:g.428dup

Select item 148636942613.

rs1486369426 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 4:183099560 (GRCh38)
4:184020713 (GRCh37)
Canonical SPDI:: NC_000004.12:183099559:C:A,NC_000004.12:183099559:C:T
Gene:: WWC2 (Varview), WWC2-AS2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,upstream_transcript_variant,synonymous_variant,5_prime_UTR_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.183099560C>A, NC_000004.12:g.183099560C>T, NC_000004.11:g.184020713C>A, NC_000004.11:g.184020713C>T, NG_051586.1:g.5926C>A, NG_051586.1:g.5926C>T, NM_024949.6:c.69C>A, NM_024949.6:c.69C>T, NM_024949.5:c.69C>A, NM_024949.5:c.69C>T, NM_001410864.1:c.69C>A, NM_001410864.1:c.69C>T, XM_011532269.4:c.69C>A, XM_011532269.4:c.69C>T, XM_024454225.2:c.-116C>A, XM_024454225.2:c.-116C>T, XM_024454225.1:c.-116C>A, XM_024454225.1:c.-116C>T, XM_047416198.1:c.-116C>A, XM_047416198.1:c.-116C>T, XM_047416199.1:c.69C>A, XM_047416199.1:c.69C>T, NP_079225.5:p.Asp23Glu, XP_011530571.1:p.Asp23Glu, XP_047272155.1:p.Asp23Glu

Select item 148625426214.

rs1486254262 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:183097354 (GRCh38)
4:184018507 (GRCh37)
Canonical SPDI:: NC_000004.12:183097353:T:C
Gene:: WWC2 (Varview), WWC2-AS2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000224/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000004.12:g.183097354T>C, NC_000004.11:g.184018507T>C, NG_051586.1:g.3720T>C, NM_153008.3:c.*631A>G, NR_024008.1:n.1846A>G, NM_153008.1:c.*631A>G

Select item 148620268215.

rs1486202682 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:183099150 (GRCh38)
4:184020303 (GRCh37)
Canonical SPDI:: NC_000004.12:183099149:C:T
Gene:: WWC2 (Varview), WWC2-AS2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00005/7 (GnomAD)
T=0.000087/23 (TOPMED)
T=0.000156/1 (1000Genomes)
HGVS:: NC_000004.12:g.183099150C>T, NC_000004.11:g.184020303C>T, NG_051586.1:g.5516C>T, NM_153008.3:c.-563G>A, NR_024008.1:n.50G>A, NM_153008.1:c.-563G>A

Select item 148605672716.

rs1486056727 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 4:183096554 (GRCh38)
4:184017707 (GRCh37)
Canonical SPDI:: NC_000004.12:183096553:T:A
Gene:: WWC2-AS2 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.183096554T>A, NC_000004.11:g.184017707T>A, NG_051586.1:g.2920T>A, NG_075667.1:g.279T>A

Select item 148553936717.

rs1485539367 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 4:183100907 (GRCh38)
4:184022060 (GRCh37)
Canonical SPDI:: NC_000004.12:183100906:A:T
Gene:: WWC2 (Varview), WWC2-AS2 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000023/6 (TOPMED)
HGVS:: NC_000004.12:g.183100907A>T, NC_000004.11:g.184022060A>T, NG_051586.1:g.7273A>T

Select item 148462547118.

rs1484625471 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:183101050 (GRCh38)
4:184022203 (GRCh37)
Canonical SPDI:: NC_000004.12:183101049:G:A
Gene:: WWC2 (Varview), WWC2-AS2 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.183101050G>A, NC_000004.11:g.184022203G>A, NG_051586.1:g.7416G>A

Select item 148456590519.

rs1484565905 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:183099912 (GRCh38)
4:184021065 (GRCh37)
Canonical SPDI:: NC_000004.12:183099911:C:T
Gene:: WWC2 (Varview), WWC2-AS2 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000043/6 (GnomAD)
HGVS:: NC_000004.12:g.183099912C>T, NC_000004.11:g.184021065C>T, NG_051586.1:g.6278C>T

Select item 148382202720.

rs1483822027 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:183097295 (GRCh38)
4:184018448 (GRCh37)
Canonical SPDI:: NC_000004.12:183097294:A:G
Gene:: WWC2 (Varview), WWC2-AS2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.183097295A>G, NC_000004.11:g.184018448A>G, NG_051586.1:g.3661A>G, NM_153008.3:c.*690T>C, NR_024008.1:n.1905T>C, NM_153008.1:c.*690T>C

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