SNP Links for Gene (Select 100506319) - SNP

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Select item 14911322911.

rs1491132291 has merged into rs10714787 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAAAAAA [Show Flanks]
Chromosome:: 3:44423517 (GRCh38)
3:44465009 (GRCh37)
Canonical SPDI:: NC_000003.12:44423504:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:44423504:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:44423504:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:44423504:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:44423504:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:44423504:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:44423504:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:44423504:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
Gene:: C3orf86 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
A=0./0 (ALSPAC)
A=0.0003/1 (TWINSUK)
A=0.1654/87 (NorthernSweden)
A=0.225/9 (GENOME_DK)
HGVS:: NC_000003.12:g.44423517_44423521del, NC_000003.12:g.44423518_44423521del, NC_000003.12:g.44423519_44423521del, NC_000003.12:g.44423520_44423521del, NC_000003.12:g.44423521del, NC_000003.12:g.44423521dup, NC_000003.12:g.44423520_44423521dup, NC_000003.12:g.44423515_44423521dup, NC_000003.11:g.44465009_44465013del, NC_000003.11:g.44465010_44465013del, NC_000003.11:g.44465011_44465013del, NC_000003.11:g.44465012_44465013del, NC_000003.11:g.44465013del, NC_000003.11:g.44465013dup, NC_000003.11:g.44465012_44465013dup, NC_000003.11:g.44465007_44465013dup

Select item 14907083222.

rs1490708322 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:44422214 (GRCh38)
3:44463706 (GRCh37)
Canonical SPDI:: NC_000003.12:44422213:C:A
Gene:: C3orf86 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000003.12:g.44422214C>A, NC_000003.11:g.44463706C>A

Select item 14901757483.

rs1490175748 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:44427438 (GRCh38)
3:44468930 (GRCh37)
Canonical SPDI:: NC_000003.12:44427437:C:T
Gene:: LINC01988 (Varview), C3orf86 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_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_000003.12:g.44427438C>T, NC_000003.11:g.44468930C>T

Select item 14901088624.

rs1490108862 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:44428605 (GRCh38)
3:44470097 (GRCh37)
Canonical SPDI:: NC_000003.12:44428604:C:T
Gene:: LINC01988 (Varview), C3orf86 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000003.12:g.44428605C>T, NC_000003.11:g.44470097C>T, NR_144436.1:n.288C>T

Select item 14896647525.

rs1489664752 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:44428218 (GRCh38)
3:44469710 (GRCh37)
Canonical SPDI:: NC_000003.12:44428217:G:A
Gene:: LINC01988 (Varview), C3orf86 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_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_000003.12:g.44428218G>A, NC_000003.11:g.44469710G>A

Select item 14891058266.

rs1489105826 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:44424423 (GRCh38)
3:44465915 (GRCh37)
Canonical SPDI:: NC_000003.12:44424422:C:T
Gene:: C3orf86 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_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)
HGVS:: NC_000003.12:g.44424423C>T, NC_000003.11:g.44465915C>T

Select item 14879565897.

rs1487956589 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:44429719 (GRCh38)
3:44471211 (GRCh37)
Canonical SPDI:: NC_000003.12:44429718:T:C
Gene:: LINC01988 (Varview), C3orf86 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000003.12:g.44429719T>C, NC_000003.11:g.44471211T>C

Select item 14871490798.

rs1487149079 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:44427555 (GRCh38)
3:44469047 (GRCh37)
Canonical SPDI:: NC_000003.12:44427554:G:A
Gene:: LINC01988 (Varview), C3orf86 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_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_000003.12:g.44427555G>A, NC_000003.11:g.44469047G>A

Select item 14871376189.

rs1487137618 [Homo sapiens]

Variant type:: SNV:
Alleles:: C>T
Chromosome:: no mapping
Canonical SPDI:

Select item 148703173010.

rs1487031730 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:44422292 (GRCh38)
3:44463784 (GRCh37)
Canonical SPDI:: NC_000003.12:44422291:G:C
Gene:: C3orf86 (Varview)
Functional Consequence:: intron_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_000003.12:g.44422292G>C, NC_000003.11:g.44463784G>C

Select item 148632552411.

rs1486325524 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:44425385 (GRCh38)
3:44466877 (GRCh37)
Canonical SPDI:: NC_000003.12:44425384:C:T
Gene:: C3orf86 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.44425385C>T, NC_000003.11:g.44466877C>T

Select item 148567298512.

rs1485672985 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:44424410 (GRCh38)
3:44465902 (GRCh37)
Canonical SPDI:: NC_000003.12:44424409:C:T
Gene:: C3orf86 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_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_000003.12:g.44424410C>T, NC_000003.11:g.44465902C>T

Select item 148560881913.

rs1485608819 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 3:44425070 (GRCh38)
3:44466563 (GRCh37)
Canonical SPDI:: NC_000003.12:44425070:T:TT
Gene:: C3orf86 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000003.12:g.44425071dup, NC_000003.11:g.44466563dup

Select item 148508717514.

rs1485087175 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:44424016 (GRCh38)
3:44465508 (GRCh37)
Canonical SPDI:: NC_000003.12:44424015:G:T
Gene:: C3orf86 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
T=0.000035/1 (TOMMO)
T=0.001092/2 (Korea1K)
HGVS:: NC_000003.12:g.44424016G>T, NC_000003.11:g.44465508G>T, NM_001351480.2:c.-56C>A, NR_172923.1:n.18C>A, NR_134943.1:n.10C>A, NM_001351480.1:c.-56C>A

Select item 148476355615.

rs1484763556 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:44424517 (GRCh38)
3:44466009 (GRCh37)
Canonical SPDI:: NC_000003.12:44424516:G:A
Gene:: C3orf86 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000003.12:g.44424517G>A, NC_000003.11:g.44466009G>A

Select item 148468349816.

rs1484683498 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:44428761 (GRCh38)
3:44470253 (GRCh37)
Canonical SPDI:: NC_000003.12:44428760:T:G
Gene:: LINC01988 (Varview), C3orf86 (Varview)
Functional Consequence:: intron_variant,genic_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_000003.12:g.44428761T>G, NC_000003.11:g.44470253T>G

Select item 148461829617.

rs1484618296 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:44427103 (GRCh38)
3:44468595 (GRCh37)
Canonical SPDI:: NC_000003.12:44427102:G:C
Gene:: LINC01988 (Varview), C3orf86 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.44427103G>C, NC_000003.11:g.44468595G>C

Select item 148410287318.

rs1484102873 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 3:44423518 (GRCh38)
3:44465010 (GRCh37)
Canonical SPDI:: NC_000003.12:44423517:A:C
Gene:: C3orf86 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.44423518A>C, NC_000003.11:g.44465010A>C

Select item 148402042419.

rs1484020424 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 3:44427693 (GRCh38)
3:44469185 (GRCh37)
Canonical SPDI:: NC_000003.12:44427692:C:A,NC_000003.12:44427692:C:G
Gene:: LINC01988 (Varview), C3orf86 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
G=0.00018/5 (TOMMO)
HGVS:: NC_000003.12:g.44427693C>A, NC_000003.12:g.44427693C>G, NC_000003.11:g.44469185C>A, NC_000003.11:g.44469185C>G

Select item 148332122420.

rs1483321224 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:44424603 (GRCh38)
3:44466095 (GRCh37)
Canonical SPDI:: NC_000003.12:44424602:T:C
Gene:: C3orf86 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.44424603T>C, NC_000003.11:g.44466095T>C

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