SNP Links for Gene (Select 401081) - SNP

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Select item 14910365301.

rs1491036530 has merged into rs1207083894 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGT>-,GT,GTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 3:109137633 (GRCh38)
3:108856480 (GRCh37)
Canonical SPDI:: NC_000003.12:109137619:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGT,NC_000003.12:109137619:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000003.12:109137619:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000003.12:109137619:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000003.12:109137619:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:109137619:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:109137619:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:109137619:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: C3orf85 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.109137621GT[6], NC_000003.12:g.109137621GT[7], NC_000003.12:g.109137621GT[8], NC_000003.12:g.109137621GT[10], NC_000003.12:g.109137621GT[11], NC_000003.12:g.109137621GT[12], NC_000003.12:g.109137621GT[13], NC_000003.12:g.109137621GT[14], NC_000003.11:g.108856468GT[6], NC_000003.11:g.108856468GT[7], NC_000003.11:g.108856468GT[8], NC_000003.11:g.108856468GT[10], NC_000003.11:g.108856468GT[11], NC_000003.11:g.108856468GT[12], NC_000003.11:g.108856468GT[13], NC_000003.11:g.108856468GT[14]

Select item 14909486082.

rs1490948608 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:109136378 (GRCh38)
3:108855225 (GRCh37)
Canonical SPDI:: NC_000003.12:109136377:C:T
Gene:: C3orf85 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.109136378C>T, NC_000003.11:g.108855225C>T

Select item 14899483843.

rs1489948384 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:109147003 (GRCh38)
3:108865850 (GRCh37)
Canonical SPDI:: NC_000003.12:109147002:A:G
Gene:: C3orf85 (Varview)
Functional Consequence:: intron_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.109147003A>G, NC_000003.11:g.108865850A>G

Select item 14899168864.

rs1489916886 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:109145964 (GRCh38)
3:108864811 (GRCh37)
Canonical SPDI:: NC_000003.12:109145963:A:G
Gene:: C3orf85 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000003.12:g.109145964A>G, NC_000003.11:g.108864811A>G

Select item 14896891515.

rs1489689151 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 3:109149058 (GRCh38)
3:108867905 (GRCh37)
Canonical SPDI:: NC_000003.12:109149057:A:G,NC_000003.12:109149057:A:T
Gene:: C3orf85 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000003.12:g.109149058A>G, NC_000003.12:g.109149058A>T, NC_000003.11:g.108867905A>G, NC_000003.11:g.108867905A>T, NR_033977.1:n.887A>G, NR_033977.1:n.887A>T, NM_001351623.1:c.*606A>G, NM_001351623.1:c.*606A>T

Select item 14896297986.

rs1489629798 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 3:109142025 (GRCh38)
3:108860872 (GRCh37)
Canonical SPDI:: NC_000003.12:109142024:T:A
Gene:: C3orf85 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.109142025T>A, NC_000003.11:g.108860872T>A

Select item 14894801427.

rs1489480142 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:109145831 (GRCh38)
3:108864678 (GRCh37)
Canonical SPDI:: NC_000003.12:109145830:C:T
Gene:: C3orf85 (Varview)
Functional Consequence:: intron_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.109145831C>T, NC_000003.11:g.108864678C>T

Select item 14891230408.

rs1489123040 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 3:109142868 (GRCh38)
3:108861715 (GRCh37)
Canonical SPDI:: NC_000003.12:109142867:G:A,NC_000003.12:109142867:G:T
Gene:: C3orf85 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
A=0.000021/3 (GnomAD)
A=0.000071/1 (TOMMO)
HGVS:: NC_000003.12:g.109142868G>A, NC_000003.12:g.109142868G>T, NC_000003.11:g.108861715G>A, NC_000003.11:g.108861715G>T

Select item 14888323769.

rs1488832376 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:109150077 (GRCh38)
3:108868924 (GRCh37)
Canonical SPDI:: NC_000003.12:109150076:G:T
Gene:: C3orf85 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_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.109150077G>T, NC_000003.11:g.108868924G>T, NM_001351622.2:c.*183G>T, NM_001351622.1:c.*183G>T, NR_033977.1:n.1906G>T, NM_001351623.1:c.*1625G>T, NR_161294.1:n.349G>T

Select item 148865863110.

rs1488658631 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:109148291 (GRCh38)
3:108867138 (GRCh37)
Canonical SPDI:: NC_000003.12:109148290:A:G
Gene:: C3orf85 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.109148291A>G, NC_000003.11:g.108867138A>G, NM_001351622.2:c.88A>G, NM_001351622.1:c.88A>G, NR_033977.1:n.120A>G, NM_001351623.1:c.88A>G, NP_001338551.1:p.Asn30Asp

Select item 148823650711.

rs1488236507 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:109140072 (GRCh38)
3:108858919 (GRCh37)
Canonical SPDI:: NC_000003.12:109140071:C:T
Gene:: C3orf85 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.109140072C>T, NC_000003.11:g.108858919C>T

Select item 148816921112.

rs1488169211 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:109139748 (GRCh38)
3:108858595 (GRCh37)
Canonical SPDI:: NC_000003.12:109139747:G:A
Gene:: C3orf85 (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_000003.12:g.109139748G>A, NC_000003.11:g.108858595G>A

Select item 148786794913.

rs1487867949 [Homo sapiens]

Variant type:: INS
Alleles:: ->TCATTCA [Show Flanks]
Chromosome:: 3:109136326 (GRCh38)
3:108855174 (GRCh37)
Canonical SPDI:: NC_000003.12:109136326::TCATTCA
Gene:: C3orf85 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by cluster
MAF:: TCATTCA=0.005625/789 (GnomAD)
TCATTCA=0.006558/42 (1000Genomes)
HGVS:: NC_000003.12:g.109136326_109136327insTCATTCA, NC_000003.11:g.108855173_108855174insTCATTCA

Select item 148768271114.

rs1487682711 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:109141139 (GRCh38)
3:108859986 (GRCh37)
Canonical SPDI:: NC_000003.12:109141138:A:G
Gene:: C3orf85 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000036/5 (GnomAD)
HGVS:: NC_000003.12:g.109141139A>G, NC_000003.11:g.108859986A>G

Select item 148735526215.

rs1487355262 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:109140579 (GRCh38)
3:108859426 (GRCh37)
Canonical SPDI:: NC_000003.12:109140578:C:T
Gene:: C3orf85 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.109140579C>T, NC_000003.11:g.108859426C>T

Select item 148731208116.

rs1487312081 has merged into rs3054419 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTGTGTGTGTGTGTG>-,TG,TGTG,TGTGTG,TGTGTGTG,TGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG [Show Flanks]
Chromosome:: 3:109137081 (GRCh38)
3:108855928 (GRCh37)
Canonical SPDI:: NC_000003.12:109137070:TGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTG,NC_000003.12:109137070:TGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTG,NC_000003.12:109137070:TGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTG,NC_000003.12:109137070:TGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTG,NC_000003.12:109137070:TGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTG,NC_000003.12:109137070:TGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTG,NC_000003.12:109137070:TGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTG,NC_000003.12:109137070:TGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTG,NC_000003.12:109137070:TGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000003.12:109137070:TGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000003.12:109137070:TGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000003.12:109137070:TGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000003.12:109137070:TGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000003.12:109137070:TGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000003.12:109137070:TGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000003.12:109137070:TGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
Gene:: C3orf85 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTG=0./0 (ALFA)
HGVS:: NC_000003.12:g.109137071TG[5], NC_000003.12:g.109137071TG[6], NC_000003.12:g.109137071TG[7], NC_000003.12:g.109137071TG[8], NC_000003.12:g.109137071TG[9], NC_000003.12:g.109137071TG[10], NC_000003.12:g.109137071TG[11], NC_000003.12:g.109137071TG[12], NC_000003.12:g.109137071TG[14], NC_000003.12:g.109137071TG[15], NC_000003.12:g.109137071TG[16], NC_000003.12:g.109137071TG[17], NC_000003.12:g.109137071TG[18], NC_000003.12:g.109137071TG[19], NC_000003.12:g.109137071TG[20], NC_000003.12:g.109137071TG[21], NC_000003.11:g.108855918TG[5], NC_000003.11:g.108855918TG[6], NC_000003.11:g.108855918TG[7], NC_000003.11:g.108855918TG[8], NC_000003.11:g.108855918TG[9], NC_000003.11:g.108855918TG[10], NC_000003.11:g.108855918TG[11], NC_000003.11:g.108855918TG[12], NC_000003.11:g.108855918TG[14], NC_000003.11:g.108855918TG[15], NC_000003.11:g.108855918TG[16], NC_000003.11:g.108855918TG[17], NC_000003.11:g.108855918TG[18], NC_000003.11:g.108855918TG[19], NC_000003.11:g.108855918TG[20], NC_000003.11:g.108855918TG[21]

Select item 148715720417.

rs1487157204 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:109145331 (GRCh38)
3:108864178 (GRCh37)
Canonical SPDI:: NC_000003.12:109145330:G:C
Gene:: C3orf85 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.109145331G>C, NC_000003.11:g.108864178G>C

Select item 148694125118.

rs1486941251 has merged into rs200986725 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA [Show Flanks]
Chromosome:: 3:109135395 (GRCh38)
3:108854242 (GRCh37)
Canonical SPDI:: NC_000003.12:109135394:AAAAAAAAA:AAAAAAAA,NC_000003.12:109135394:AAAAAAAAA:AAAAAAAAAA
Gene:: C3orf85 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0.0014/22 (ALFA)
-=0.00025/4 (TOMMO)
-=0.01/6 (NorthernSweden)
A=0.04992/250 (1000Genomes)
HGVS:: NC_000003.12:g.109135403del, NC_000003.12:g.109135403dup, NC_000003.11:g.108854250del, NC_000003.11:g.108854250dup

Select item 148684404419.

rs1486844044 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:109137485 (GRCh38)
3:108856332 (GRCh37)
Canonical SPDI:: NC_000003.12:109137484:A:G
Gene:: C3orf85 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000023/6 (TOPMED)
HGVS:: NC_000003.12:g.109137485A>G, NC_000003.11:g.108856332A>G

Select item 148644602120.

rs1486446021 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:109144393 (GRCh38)
3:108863240 (GRCh37)
Canonical SPDI:: NC_000003.12:109144392:T:C
Gene:: C3orf85 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.109144393T>C, NC_000003.11:g.108863240T>C

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