SNP Links for Gene (Select 105379054) - SNP

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Select item 14915824561.

rs1491582456 has merged into rs4033003 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA [Show Flanks]
Chromosome:: 5:83562671 (GRCh38)
5:82858490 (GRCh37)
Canonical SPDI:: NC_000005.10:83562661:AAAAAAAAAAAA:AAAAAAAAA,NC_000005.10:83562661:AAAAAAAAAAAA:AAAAAAAAAA,NC_000005.10:83562661:AAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:83562661:AAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:83562661:AAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:83562661:AAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:83562661:AAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:83562661:AAAAAAAAAAAA:AAAAAAAAAAAAAAAAA
Gene:: VCAN (Varview), VCAN-AS1 (Varview), LOC124901021 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
AA=0.0693/90 (1000Genomes)
-=0.2608/1005 (ALSPAC)
HGVS:: NC_000005.10:g.83562671_83562673del, NC_000005.10:g.83562672_83562673del, NC_000005.10:g.83562673del, NC_000005.10:g.83562673dup, NC_000005.10:g.83562672_83562673dup, NC_000005.10:g.83562671_83562673dup, NC_000005.10:g.83562670_83562673dup, NC_000005.10:g.83562669_83562673dup, NC_000005.9:g.82858490_82858492del, NC_000005.9:g.82858491_82858492del, NC_000005.9:g.82858492del, NC_000005.9:g.82858492dup, NC_000005.9:g.82858491_82858492dup, NC_000005.9:g.82858490_82858492dup, NC_000005.9:g.82858489_82858492dup, NC_000005.9:g.82858488_82858492dup, NG_012682.1:g.95961_95963del, NG_012682.1:g.95962_95963del, NG_012682.1:g.95963del, NG_012682.1:g.95963dup, NG_012682.1:g.95962_95963dup, NG_012682.1:g.95961_95963dup, NG_012682.1:g.95960_95963dup, NG_012682.1:g.95959_95963dup, XR_007058847.1:n.457_459del, XR_007058847.1:n.458_459del, XR_007058847.1:n.459del, XR_007058847.1:n.459dup, XR_007058847.1:n.458_459dup, XR_007058847.1:n.457_459dup, XR_007058847.1:n.456_459dup, XR_007058847.1:n.455_459dup

Select item 14913820992.

rs1491382099 has merged into rs57081110 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 5:83550896 (GRCh38)
5:82846715 (GRCh37)
Canonical SPDI:: NC_000005.10:83550887:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000005.10:83550887:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:83550887:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:83550887:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:83550887:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:83550887:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:83550887:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:83550887:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:83550887:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:83550887:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000005.10:83550887:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:83550887:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:83550887:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:83550887:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:83550887:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:83550887:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:83550887:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:83550887:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:83550887:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:83550887:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:83550887:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: VCAN (Varview), VCAN-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
HGVS:: NC_000005.10:g.83550896_83550908del, NC_000005.10:g.83550899_83550908del, NC_000005.10:g.83550901_83550908del, NC_000005.10:g.83550902_83550908del, NC_000005.10:g.83550903_83550908del, NC_000005.10:g.83550904_83550908del, NC_000005.10:g.83550905_83550908del, NC_000005.10:g.83550906_83550908del, NC_000005.10:g.83550907_83550908del, NC_000005.10:g.83550908del, NC_000005.10:g.83550908dup, NC_000005.10:g.83550907_83550908dup, NC_000005.10:g.83550906_83550908dup, NC_000005.10:g.83550905_83550908dup, NC_000005.10:g.83550904_83550908dup, NC_000005.10:g.83550903_83550908dup, NC_000005.10:g.83550902_83550908dup, NC_000005.10:g.83550901_83550908dup, NC_000005.10:g.83550900_83550908dup, NC_000005.10:g.83550899_83550908dup, NC_000005.10:g.83550898_83550908dup, NC_000005.9:g.82846715_82846727del, NC_000005.9:g.82846718_82846727del, NC_000005.9:g.82846720_82846727del, NC_000005.9:g.82846721_82846727del, NC_000005.9:g.82846722_82846727del, NC_000005.9:g.82846723_82846727del, NC_000005.9:g.82846724_82846727del, NC_000005.9:g.82846725_82846727del, NC_000005.9:g.82846726_82846727del, NC_000005.9:g.82846727del, NC_000005.9:g.82846727dup, NC_000005.9:g.82846726_82846727dup, NC_000005.9:g.82846725_82846727dup, NC_000005.9:g.82846724_82846727dup, NC_000005.9:g.82846723_82846727dup, NC_000005.9:g.82846722_82846727dup, NC_000005.9:g.82846721_82846727dup, NC_000005.9:g.82846720_82846727dup, NC_000005.9:g.82846719_82846727dup, NC_000005.9:g.82846718_82846727dup, NC_000005.9:g.82846717_82846727dup, NG_012682.1:g.84186_84198del, NG_012682.1:g.84189_84198del, NG_012682.1:g.84191_84198del, NG_012682.1:g.84192_84198del, NG_012682.1:g.84193_84198del, NG_012682.1:g.84194_84198del, NG_012682.1:g.84195_84198del, NG_012682.1:g.84196_84198del, NG_012682.1:g.84197_84198del, NG_012682.1:g.84198del, NG_012682.1:g.84198dup, NG_012682.1:g.84197_84198dup, NG_012682.1:g.84196_84198dup, NG_012682.1:g.84195_84198dup, NG_012682.1:g.84194_84198dup, NG_012682.1:g.84193_84198dup, NG_012682.1:g.84192_84198dup, NG_012682.1:g.84191_84198dup, NG_012682.1:g.84190_84198dup, NG_012682.1:g.84189_84198dup, NG_012682.1:g.84188_84198dup

Select item 14910513543.

rs1491051354 has merged into rs35874300 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA,AAAAA [Show Flanks]
Chromosome:: 5:83560016 (GRCh38)
5:82855835 (GRCh37)
Canonical SPDI:: NC_000005.10:83560004:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:83560004:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:83560004:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:83560004:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:83560004:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAA
Gene:: VCAN (Varview), VCAN-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.2237/992 (1000Genomes)
HGVS:: NC_000005.10:g.83560016_83560017del, NC_000005.10:g.83560017del, NC_000005.10:g.83560017dup, NC_000005.10:g.83560016_83560017dup, NC_000005.10:g.83560015_83560017dup, NC_000005.9:g.82855835_82855836del, NC_000005.9:g.82855836del, NC_000005.9:g.82855836dup, NC_000005.9:g.82855835_82855836dup, NC_000005.9:g.82855834_82855836dup, NG_012682.1:g.93306_93307del, NG_012682.1:g.93307del, NG_012682.1:g.93307dup, NG_012682.1:g.93306_93307dup, NG_012682.1:g.93305_93307dup

Select item 14908410094.

rs1490841009 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 5:83555990 (GRCh38)
5:82851809 (GRCh37)
Canonical SPDI:: NC_000005.10:83555989:T:A
Gene:: VCAN (Varview), VCAN-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000005.10:g.83555990T>A, NC_000005.9:g.82851809T>A, NG_012682.1:g.89280T>A

Select item 14907597835.

rs1490759783 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 5:83538036 (GRCh38)
5:82833855 (GRCh37)
Canonical SPDI:: NC_000005.10:83538035:C:G
Gene:: VCAN (Varview), VCAN-AS1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.83538036C>G, NC_000005.9:g.82833855C>G, NG_012682.1:g.71326C>G, NM_004385.5:c.5033C>G, NM_004385.4:c.5033C>G, NM_001164097.2:c.2072C>G, NM_001164097.1:c.2072C>G, NP_004376.2:p.Thr1678Arg, NP_001157569.1:p.Thr691Arg

Select item 14907549056.

rs1490754905 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 5:83535343 (GRCh38)
5:82831162 (GRCh37)
Canonical SPDI:: NC_000005.10:83535342:A:G,NC_000005.10:83535342:A:T
Gene:: VCAN (Varview), VCAN-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000005.10:g.83535343A>G, NC_000005.10:g.83535343A>T, NC_000005.9:g.82831162A>G, NC_000005.9:g.82831162A>T, NG_012682.1:g.68633A>G, NG_012682.1:g.68633A>T

Select item 14906115767.

rs1490611576 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:83535304 (GRCh38)
5:82831123 (GRCh37)
Canonical SPDI:: NC_000005.10:83535303:A:G
Gene:: VCAN (Varview), VCAN-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000005.10:g.83535304A>G, NC_000005.9:g.82831123A>G, NG_012682.1:g.68594A>G

Select item 14905897158.

rs1490589715 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:83534102 (GRCh38)
5:82829921 (GRCh37)
Canonical SPDI:: NC_000005.10:83534101:T:C
Gene:: VCAN (Varview), VCAN-AS1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.83534102T>C, NC_000005.9:g.82829921T>C, NG_012682.1:g.67392T>C, NR_136215.1:n.356A>G

Select item 14905623799.

rs1490562379 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:83551669 (GRCh38)
5:82847488 (GRCh37)
Canonical SPDI:: NC_000005.10:83551668:A:G
Gene:: VCAN (Varview), VCAN-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.83551669A>G, NC_000005.9:g.82847488A>G, NG_012682.1:g.84959A>G

Select item 149050071210.

rs1490500712 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 5:83560445 (GRCh38)
5:82856264 (GRCh37)
Canonical SPDI:: NC_000005.10:83560444:A:T
Gene:: VCAN (Varview), VCAN-AS1 (Varview), LOC124901021 (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=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.83560445A>T, NC_000005.9:g.82856264A>T, NG_012682.1:g.93735A>T

Select item 149028619411.

rs1490286194 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 5:83536399 (GRCh38)
5:82832218 (GRCh37)
Canonical SPDI:: NC_000005.10:83536398:A:C,NC_000005.10:83536398:A:G
Gene:: VCAN (Varview), VCAN-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00004/1 (TOMMO)
HGVS:: NC_000005.10:g.83536399A>C, NC_000005.10:g.83536399A>G, NC_000005.9:g.82832218A>C, NC_000005.9:g.82832218A>G, NG_012682.1:g.69689A>C, NG_012682.1:g.69689A>G

Select item 149016444812.

rs1490164448 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:83545490 (GRCh38)
5:82841309 (GRCh37)
Canonical SPDI:: NC_000005.10:83545489:A:G
Gene:: VCAN (Varview), VCAN-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
A=0.5/1 (SGDP_PRJ)
HGVS:: NC_000005.10:g.83545490A>G, NC_000005.9:g.82841309A>G, NG_012682.1:g.78780A>G

Select item 149002698913.

rs1490026989 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:83554521 (GRCh38)
5:82850340 (GRCh37)
Canonical SPDI:: NC_000005.10:83554520:G:A
Gene:: VCAN (Varview), VCAN-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.83554521G>A, NC_000005.9:g.82850340G>A, NG_012682.1:g.87811G>A, NG_083757.1:g.475G>A

Select item 148985347914.

rs1489853479 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:83534540 (GRCh38)
5:82830359 (GRCh37)
Canonical SPDI:: NC_000005.10:83534539:T:C
Gene:: VCAN (Varview), VCAN-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000005.10:g.83534540T>C, NC_000005.9:g.82830359T>C, NG_012682.1:g.67830T>C

Select item 148979776815.

rs1489797768 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:83535834 (GRCh38)
5:82831653 (GRCh37)
Canonical SPDI:: NC_000005.10:83535833:T:C
Gene:: VCAN (Varview), VCAN-AS1 (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)
C=0.000035/1 (TOMMO)
HGVS:: NC_000005.10:g.83535834T>C, NC_000005.9:g.82831653T>C, NG_012682.1:g.69124T>C

Select item 148975145016.

rs1489751450 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:83559881 (GRCh38)
5:82855700 (GRCh37)
Canonical SPDI:: NC_000005.10:83559880:C:T
Gene:: VCAN (Varview), VCAN-AS1 (Varview)
Functional Consequence:: intron_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_000005.10:g.83559881C>T, NC_000005.9:g.82855700C>T, NG_012682.1:g.93171C>T

Select item 148971846917.

rs1489718469 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 5:83539545 (GRCh38)
5:82835364 (GRCh37)
Canonical SPDI:: NC_000005.10:83539544:C:A,NC_000005.10:83539544:C:G
Gene:: VCAN (Varview), VCAN-AS1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.83539545C>A, NC_000005.10:g.83539545C>G, NC_000005.9:g.82835364C>A, NC_000005.9:g.82835364C>G, NG_012682.1:g.72835C>A, NG_012682.1:g.72835C>G, NM_004385.5:c.6542C>A, NM_004385.5:c.6542C>G, NM_004385.4:c.6542C>A, NM_004385.4:c.6542C>G, NM_001164097.2:c.3581C>A, NM_001164097.2:c.3581C>G, NM_001164097.1:c.3581C>A, NM_001164097.1:c.3581C>G, NP_004376.2:p.Ser2181Tyr, NP_004376.2:p.Ser2181Cys, NP_001157569.1:p.Ser1194Tyr, NP_001157569.1:p.Ser1194Cys

Select item 148960150418.

rs1489601504 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:83553303 (GRCh38)
5:82849122 (GRCh37)
Canonical SPDI:: NC_000005.10:83553302:G:A
Gene:: VCAN (Varview), VCAN-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.83553303G>A, NC_000005.9:g.82849122G>A, NG_012682.1:g.86593G>A

Select item 148959353119.

rs1489593531 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:83563025 (GRCh38)
5:82858844 (GRCh37)
Canonical SPDI:: NC_000005.10:83563024:A:G
Gene:: VCAN (Varview), VCAN-AS1 (Varview), LOC124901021 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000029/4 (GnomAD)
HGVS:: NC_000005.10:g.83563025A>G, NC_000005.9:g.82858844A>G, NG_012682.1:g.96315A>G, XR_007058847.1:n.811A>G

Select item 148955343720.

rs1489553437 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:83546926 (GRCh38)
5:82842745 (GRCh37)
Canonical SPDI:: NC_000005.10:83546925:A:G
Gene:: VCAN (Varview), VCAN-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.83546926A>G, NC_000005.9:g.82842745A>G, NG_012682.1:g.80216A>G

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