SNP Links for Gene (Select 151613) - SNP

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Select item 14914404631.

rs1491440463 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GAT [Show Flanks]
Chromosome:: 3:180611663 (GRCh38)
3:180329452 (GRCh37)
Canonical SPDI:: NC_000003.12:180611663:GAT:GATGAT
Gene:: TTC14 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GATGAT=0./0 (ALFA)
GAT=0.000004/1 (TOPMED)
GAT=0.000021/3 (GnomAD)
GAT=0.000035/1 (TOMMO)
HGVS:: NC_000003.12:g.180611664_180611666dup, NC_000003.11:g.180329452_180329454dup

Select item 14907240002.

rs1490724000 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATT>- [Show Flanks]
Chromosome:: 3:180613202 (GRCh38)
3:180330990 (GRCh37)
Canonical SPDI:: NC_000003.12:180613198:ATTATT:ATT
Gene:: TTC14 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATTATT=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000029/4 (GnomAD)
HGVS:: NC_000003.12:g.180613199ATT[1], NC_000003.11:g.180330987ATT[1], NG_029581.1:g.71292AAT[1]

Select item 14906476013.

rs1490647601 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:180606046 (GRCh38)
3:180323834 (GRCh37)
Canonical SPDI:: NC_000003.12:180606045:A:G
Gene:: TTC14 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.180606046A>G, NC_000003.11:g.180323834A>G

Select item 14905872514.

rs1490587251 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 3:180617740 (GRCh38)
3:180335528 (GRCh37)
Canonical SPDI:: NC_000003.12:180617739:A:C
Gene:: TTC14 (Varview), CCDC39 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.180617740A>C, NC_000003.11:g.180335528A>C, NG_029581.1:g.66756T>G, NM_001288582.2:c.*173A>C, NM_001288582.1:c.*173A>C

Select item 14904915965.

rs1490491596 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 3:180615341 (GRCh38)
3:180333129 (GRCh37)
Canonical SPDI:: NC_000003.12:180615340:A:C
Gene:: TTC14 (Varview), CCDC39 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000003.12:g.180615341A>C, NC_000003.11:g.180333129A>C, NG_029581.1:g.69155T>G

Select item 14904300036.

rs1490430003 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 3:180610196 (GRCh38)
3:180327984 (GRCh37)
Canonical SPDI:: NC_000003.12:180610193:AGAG:AG
Gene:: TTC14 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,frameshift_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.180610194AG[1], NC_000003.11:g.180327982AG[1], NM_133462.4:c.1967_1968del, NM_133462.3:c.1967_1968del, NM_001042601.3:c.*2399AG[1], NM_001042601.2:c.*2399AG[1], XM_017005739.3:c.1811_1812del, XM_017005739.2:c.1811_1812del, XM_017005739.1:c.1811_1812del, XM_017005740.2:c.*1462AG[1], XM_017005740.1:c.*1462AG[1], XM_047447485.1:c.*1462AG[1], XM_047447484.1:c.1217_1218del, NP_597719.1:p.Glu656fs, XP_016861228.1:p.Glu604fs, XP_047303440.1:p.Glu406fs

Select item 14904040167.

rs1490404016 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 3:180615108 (GRCh38)
3:180332896 (GRCh37)
Canonical SPDI:: NC_000003.12:180615107:T:C,NC_000003.12:180615107:T:G
Gene:: TTC14 (Varview), CCDC39 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
G=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.180615108T>C, NC_000003.12:g.180615108T>G, NC_000003.11:g.180332896T>C, NC_000003.11:g.180332896T>G, NG_029581.1:g.69388A>G, NG_029581.1:g.69388A>C

Select item 14902494678.

rs1490249467 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:180602632 (GRCh38)
3:180320420 (GRCh37)
Canonical SPDI:: NC_000003.12:180602631:T:C
Gene:: TTC14 (Varview), TTC14-DT (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000003.12:g.180602632T>C, NC_000003.11:g.180320420T>C

Select item 14900712279.

rs1490071227 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAGAA>- [Show Flanks]
Chromosome:: 3:180609642 (GRCh38)
3:180327430 (GRCh37)
Canonical SPDI:: NC_000003.12:180609636:AAGAAAAGAA:AAGAA
Gene:: TTC14 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAGAAAAGAA=0.000066/1 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000223/1 (Estonian)
HGVS:: NC_000003.12:g.180609637AAGAA[1], NC_000003.11:g.180327425AAGAA[1], NM_133462.4:c.1413_1417del, NM_133462.3:c.1413_1417del, NM_001042601.3:c.*1842AAGAA[1], NM_001042601.2:c.*1842AAGAA[1], XM_017005739.3:c.1257_1261del, XM_017005739.2:c.1257_1261del, XM_017005739.1:c.1257_1261del, XM_017005740.2:c.*905AAGAA[1], XM_017005740.1:c.*905AAGAA[1], NM_001288582.2:c.1413_1417del, NM_001288582.1:c.1413_1417del, XM_047447485.1:c.*905AAGAA[1], XM_047447484.1:c.663_667del, NP_597719.1:p.Arg472fs, XP_016861228.1:p.Arg420fs, NP_001275511.1:p.Arg472fs, XP_047303440.1:p.Arg222fs

Select item 149001946310.

rs1490019463 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:180602083 (GRCh38)
3:180319871 (GRCh37)
Canonical SPDI:: NC_000003.12:180602082:C:G
Gene:: TTC14 (Varview), TTC14-DT (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.180602083C>G, NC_000003.11:g.180319871C>G, XR_924748.3:n.53G>C, XR_924748.2:n.56G>C, XR_924748.1:n.20G>C, XR_002959661.2:n.42G>C, XR_002959660.2:n.46G>C, XR_007096186.1:n.50G>C, XR_007096185.1:n.43G>C

Select item 148990791511.

rs1489907915 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:180612675 (GRCh38)
3:180330463 (GRCh37)
Canonical SPDI:: NC_000003.12:180612674:T:C
Gene:: TTC14 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.180612675T>C, NC_000003.11:g.180330463T>C, NG_029581.1:g.71821A>G

Select item 148969189912.

rs1489691899 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:180608681 (GRCh38)
3:180326469 (GRCh37)
Canonical SPDI:: NC_000003.12:180608680:C:T
Gene:: TTC14 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by cluster
MAF:: T=0.000017/2 (GnomAD_exomes)
HGVS:: NC_000003.12:g.180608681C>T, NC_000003.11:g.180326469C>T, NM_001042601.3:c.*886C>T, NM_001042601.2:c.*886C>T

Select item 148960303713.

rs1489603037 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:180604422 (GRCh38)
3:180322210 (GRCh37)
Canonical SPDI:: NC_000003.12:180604421:A:G
Gene:: TTC14 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.180604422A>G, NC_000003.11:g.180322210A>G

Select item 148935502614.

rs1489355026 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:180611807 (GRCh38)
3:180329595 (GRCh37)
Canonical SPDI:: NC_000003.12:180611806:A:G
Gene:: TTC14 (Varview)
Functional Consequence:: intron_variant,genic_downstream_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.180611807A>G, NC_000003.11:g.180329595A>G

Select item 148909916215.

rs1489099162 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 3:180615018 (GRCh38)
3:180332806 (GRCh37)
Canonical SPDI:: NC_000003.12:180615017:T:A,NC_000003.12:180615017:T:G
Gene:: TTC14 (Varview), CCDC39 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
G=0.000012/2 (GnomAD_exomes)
HGVS:: NC_000003.12:g.180615018T>A, NC_000003.12:g.180615018T>G, NC_000003.11:g.180332806T>A, NC_000003.11:g.180332806T>G, NG_029581.1:g.69478A>T, NG_029581.1:g.69478A>C, NM_181426.2:c.2729A>T, NM_181426.2:c.2729A>C, NM_181426.1:c.2729A>T, NM_181426.1:c.2729A>C, NP_852091.1:p.Lys910Ile, NP_852091.1:p.Lys910Thr

Select item 148906736816.

rs1489067368 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 3:180602211 (GRCh38)
3:180319999 (GRCh37)
Canonical SPDI:: NC_000003.12:180602210:G:C,NC_000003.12:180602210:G:T
Gene:: TTC14 (Varview), TTC14-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.180602211G>C, NC_000003.12:g.180602211G>T, NC_000003.11:g.180319999G>C, NC_000003.11:g.180319999G>T, NM_133462.4:c.-51G>C, NM_133462.4:c.-51G>T, NM_133462.3:c.-51G>C, NM_133462.3:c.-51G>T, NM_001042601.3:c.-51G>C, NM_001042601.3:c.-51G>T, NM_001042601.2:c.-51G>C, NM_001042601.2:c.-51G>T, XM_017005739.3:c.-51G>C, XM_017005739.3:c.-51G>T, XM_017005739.2:c.-51G>C, XM_017005739.2:c.-51G>T, XM_017005739.1:c.-51G>C, XM_017005739.1:c.-51G>T, XM_017005740.2:c.-51G>C, XM_017005740.2:c.-51G>T, XM_017005740.1:c.-51G>C, XM_017005740.1:c.-51G>T, NM_001288582.2:c.-51G>C, NM_001288582.2:c.-51G>T, NM_001288582.1:c.-51G>C, NM_001288582.1:c.-51G>T, XM_047447485.1:c.-51G>C, XM_047447485.1:c.-51G>T

Select item 148880742317.

rs1488807423 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AAGA [Show Flanks]
Chromosome:: 3:180611594 (GRCh38)
3:180329383 (GRCh37)
Canonical SPDI:: NC_000003.12:180611594:AAAGA:AAAGAAAGA
Gene:: TTC14 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AAAGAAAGA=0.000071/1 (ALFA)
AAAG=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.180611596_180611599dup, NC_000003.11:g.180329384_180329387dup

Select item 148865199518.

rs1488651995 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:180612773 (GRCh38)
3:180330561 (GRCh37)
Canonical SPDI:: NC_000003.12:180612772:C:T
Gene:: TTC14 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.180612773C>T, NC_000003.11:g.180330561C>T, NG_029581.1:g.71723G>A

Select item 148859559319.

rs1488595593 has merged into rs34053470 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 3:180608407 (GRCh38)
3:180326195 (GRCh37)
Canonical SPDI:: NC_000003.12:180608394:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:180608394:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:180608394:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:180608394:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:180608394:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:180608394:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:180608394:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:180608394:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: TTC14 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
TTTT=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.180608407_180608409del, NC_000003.12:g.180608408_180608409del, NC_000003.12:g.180608409del, NC_000003.12:g.180608409dup, NC_000003.12:g.180608408_180608409dup, NC_000003.12:g.180608406_180608409dup, NC_000003.12:g.180608400_180608409dup, NC_000003.12:g.180608409_180608410insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.180326195_180326197del, NC_000003.11:g.180326196_180326197del, NC_000003.11:g.180326197del, NC_000003.11:g.180326197dup, NC_000003.11:g.180326196_180326197dup, NC_000003.11:g.180326194_180326197dup, NC_000003.11:g.180326188_180326197dup, NC_000003.11:g.180326197_180326198insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_001042601.3:c.*612_*614del, NM_001042601.3:c.*613_*614del, NM_001042601.3:c.*614del, NM_001042601.3:c.*614dup, NM_001042601.3:c.*613_*614dup, NM_001042601.3:c.*611_*614dup, NM_001042601.3:c.*605_*614dup, NM_001042601.3:c.*614_*615insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_001042601.2:c.*612_*614del, NM_001042601.2:c.*613_*614del, NM_001042601.2:c.*614del, NM_001042601.2:c.*614dup, NM_001042601.2:c.*613_*614dup, NM_001042601.2:c.*611_*614dup, NM_001042601.2:c.*605_*614dup, NM_001042601.2:c.*614_*615insTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 148796159920.

rs1487961599 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:180605532 (GRCh38)
3:180323320 (GRCh37)
Canonical SPDI:: NC_000003.12:180605531:C:T
Gene:: TTC14 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.180605532C>T, NC_000003.11:g.180323320C>T

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