SNP Links for Gene (Select 57465) - SNP

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Select item 14914801421.

rs1491480142 [Homo sapiens]

Variant type:: INS
Alleles:: ->T,TAT,TATAT,TATATAT,TATATATATAT [Show Flanks]
Chromosome:: 16:2506357 (GRCh38)
16:2556359 (GRCh37)
Canonical SPDI:: NC_000016.10:2506357::T,NC_000016.10:2506357::TAT,NC_000016.10:2506357::TATAT,NC_000016.10:2506357::TATATAT,NC_000016.10:2506357::TATATATATAT
Validated:: by frequency,by alfa,by cluster
MAF:: TAT=0./0 (ALFA)
HGVS:: NC_000016.10:g.2506357_2506358insT, NC_000016.10:g.2506357_2506358insTAT, NC_000016.10:g.2506357_2506358insTATAT, NC_000016.10:g.2506357_2506358insTATATAT, NC_000016.10:g.2506357_2506358insTATATATATAT, NC_000016.9:g.2556358_2556359insT, NC_000016.9:g.2556358_2556359insTAT, NC_000016.9:g.2556358_2556359insTATAT, NC_000016.9:g.2556358_2556359insTATATAT, NC_000016.9:g.2556358_2556359insTATATATATAT, NG_028170.1:g.36212_36213insT, NG_028170.1:g.36212_36213insTAT, NG_028170.1:g.36212_36213insTATAT, NG_028170.1:g.36212_36213insTATATAT, NG_028170.1:g.36212_36213insTATATATATAT

Select item 14914504412.

rs1491450441 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 16:2506357 (GRCh38)
16:2556358 (GRCh37)
Canonical SPDI:: NC_000016.10:2506356:AA:
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00329/55 (TOMMO)
HGVS:: NC_000016.10:g.2506357_2506358del, NC_000016.9:g.2556358_2556359del, NG_028170.1:g.36212_36213del

Select item 14912995333.

rs1491299533 has merged into rs1555502160 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 16:2504436 (GRCh38)
16:2554437 (GRCh37)
Canonical SPDI:: NC_000016.10:2504435:TG:
Gene:: TBC1D24 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000016.10:g.2504436_2504437del, NC_000016.9:g.2554437_2554438del, NG_028170.1:g.34291_34292del, NM_020705.3:c.*3478_*3479del, NM_020705.2:c.*3478_*3479del, NM_001199107.2:c.*3478_*3479del, NM_001199107.1:c.*3478_*3479del, XM_017023494.2:c.*3478_*3479del, XM_017023494.1:c.*3478_*3479del, XM_017023493.2:c.*2741_*2742del, XM_017023493.1:c.*2741_*2742del, XM_017023495.2:c.*2741_*2742del, XM_017023495.1:c.*2741_*2742del, XM_047434388.1:c.*3478_*3479del

Select item 14912137104.

rs1491213710 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,AAAA [Show Flanks]
Chromosome:: 16:2495036 (GRCh38)
16:2545037 (GRCh37)
Canonical SPDI:: NC_000016.10:2495033:AAAA:AA,NC_000016.10:2495033:AAAA:AAAAAA
Gene:: TBC1D24 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AAAAAA=0./0 (ALFA)
-=0.000022/3 (GnomAD)
HGVS:: NC_000016.10:g.2495036_2495037del, NC_000016.10:g.2495036_2495037dup, NC_000016.9:g.2545037_2545038del, NC_000016.9:g.2545037_2545038dup, NG_028170.1:g.24891_24892del, NG_028170.1:g.24891_24892dup

Select item 14911800845.

rs1491180084 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTAT,CTATAT,CTATATAT,CTATATATAT,CTCTAT,CTCTATAT,CTCTATATAT,CTCTCTAT,CTCTCTATAT,CTCTCTCTAT [Show Flanks]
Chromosome:: 16:2506333 (GRCh38)
16:2556335 (GRCh37)
Canonical SPDI:: NC_000016.10:2506333:T:TCTAT,NC_000016.10:2506333:T:TCTATAT,NC_000016.10:2506333:T:TCTATATAT,NC_000016.10:2506333:T:TCTATATATAT,NC_000016.10:2506333:T:TCTCTAT,NC_000016.10:2506333:T:TCTCTATAT,NC_000016.10:2506333:T:TCTCTATATAT,NC_000016.10:2506333:T:TCTCTCTAT,NC_000016.10:2506333:T:TCTCTCTATAT,NC_000016.10:2506333:T:TCTCTCTCTAT
Validated:: by frequency,by alfa,by cluster
MAF:: TCTATAT=0./0 (ALFA)
TCTA=0.00496/83 (TOMMO)
HGVS:: NC_000016.10:g.2506334_2506335insCTAT, NC_000016.10:g.2506334_2506335insCTATAT, NC_000016.10:g.2506334_2506335insCTATATAT, NC_000016.10:g.2506334_2506335insCTATATATAT, NC_000016.10:g.2506334TC[2]TAT[1], NC_000016.10:g.2506334TC[2]TA[2]T[1], NC_000016.10:g.2506334TC[2]TA[3]T[1], NC_000016.10:g.2506334TC[3]TAT[1], NC_000016.10:g.2506334TC[3]TA[2]T[1], NC_000016.10:g.2506334TC[4]TAT[1], NC_000016.9:g.2556335_2556336insCTAT, NC_000016.9:g.2556335_2556336insCTATAT, NC_000016.9:g.2556335_2556336insCTATATAT, NC_000016.9:g.2556335_2556336insCTATATATAT, NC_000016.9:g.2556335TC[2]TAT[1], NC_000016.9:g.2556335TC[2]TA[2]T[1], NC_000016.9:g.2556335TC[2]TA[3]T[1], NC_000016.9:g.2556335TC[3]TAT[1], NC_000016.9:g.2556335TC[3]TA[2]T[1], NC_000016.9:g.2556335TC[4]TAT[1], NG_028170.1:g.36189_36190insCTAT, NG_028170.1:g.36189_36190insCTATAT, NG_028170.1:g.36189_36190insCTATATAT, NG_028170.1:g.36189_36190insCTATATATAT, NG_028170.1:g.36189TC[2]TAT[1], NG_028170.1:g.36189TC[2]TA[2]T[1], NG_028170.1:g.36189TC[2]TA[3]T[1], NG_028170.1:g.36189TC[3]TAT[1], NG_028170.1:g.36189TC[3]TA[2]T[1], NG_028170.1:g.36189TC[4]TAT[1]

Select item 14911427976.

rs1491142797 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AT,ATAT,ATATAT,ATATATAT,ATATATATAT,ATATATATATAT [Show Flanks]
Chromosome:: 16:2506331 (GRCh38)
16:2556333 (GRCh37)
Canonical SPDI:: NC_000016.10:2506331:T:TAT,NC_000016.10:2506331:T:TATAT,NC_000016.10:2506331:T:TATATAT,NC_000016.10:2506331:T:TATATATAT,NC_000016.10:2506331:T:TATATATATAT,NC_000016.10:2506331:T:TATATATATATAT
Validated:: by frequency,by alfa,by cluster
MAF:: TATAT=0./0 (ALFA)
TATATATATA=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.2506332_2506333insAT, NC_000016.10:g.2506332_2506333insATAT, NC_000016.10:g.2506333AT[3], NC_000016.10:g.2506333AT[4], NC_000016.10:g.2506333AT[5], NC_000016.10:g.2506333AT[6], NC_000016.9:g.2556333_2556334insAT, NC_000016.9:g.2556333_2556334insATAT, NC_000016.9:g.2556334AT[3], NC_000016.9:g.2556334AT[4], NC_000016.9:g.2556334AT[5], NC_000016.9:g.2556334AT[6], NG_028170.1:g.36187_36188insAT, NG_028170.1:g.36187_36188insATAT, NG_028170.1:g.36188AT[3], NG_028170.1:g.36188AT[4], NG_028170.1:g.36188AT[5], NG_028170.1:g.36188AT[6]

Select item 14909871327.

rs1490987132 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 16:2486184 (GRCh38)
16:2536185 (GRCh37)
Canonical SPDI:: NC_000016.10:2486183:GGGG:GGG
Gene:: TBC1D24 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GGG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.2486187del, NC_000016.9:g.2536188del, NG_028170.1:g.16042del

Select item 14909588688.

rs1490958868 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 16:2507630 (GRCh38)
16:2557631 (GRCh37)
Canonical SPDI:: NC_000016.10:2507629:G:T
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.2507630G>T, NC_000016.9:g.2557631G>T, NG_028170.1:g.37485G>T

Select item 14909365779.

rs1490936577 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:2479021 (GRCh38)
16:2529022 (GRCh37)
Canonical SPDI:: NC_000016.10:2479020:T:C
Gene:: TBC1D24 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000016.10:g.2479021T>C, NC_000016.9:g.2529022T>C, NG_028170.1:g.8876T>C

Select item 149091058810.

rs1490910588 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:2476659 (GRCh38)
16:2526660 (GRCh37)
Canonical SPDI:: NC_000016.10:2476658:T:C
Gene:: TBC1D24 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.2476659T>C, NC_000016.9:g.2526660T>C, NG_028170.1:g.6514T>C

Select item 149084589211.

rs1490845892 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:2507207 (GRCh38)
16:2557208 (GRCh37)
Canonical SPDI:: NC_000016.10:2507206:G:A
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.2507207G>A, NC_000016.9:g.2557208G>A, NG_028170.1:g.37062G>A

Select item 149074460212.

rs1490744602 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 16:2500180 (GRCh38)
16:2550181 (GRCh37)
Canonical SPDI:: NC_000016.10:2500179:G:T
Gene:: TBC1D24 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.2500180G>T, NC_000016.9:g.2550181G>T, NG_028170.1:g.30035G>T

Select item 149071913213.

rs1490719132 [Homo sapiens]

Variant type:: INS
Alleles:: ->CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC,CTGCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC [Show Flanks]
Chromosome:: 16:2494053 (GRCh38)
16:2544055 (GRCh37)
Canonical SPDI:: NC_000016.10:2494053::CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC,NC_000016.10:2494053::CTGCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC
Gene:: TBC1D24 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: CTGCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.2494053_2494054insCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC, NC_000016.10:g.2494053_2494054insCTGCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC, NC_000016.9:g.2544054_2544055insCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC, NC_000016.9:g.2544054_2544055insCTGCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC, NG_028170.1:g.23908_23909insCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC, NG_028170.1:g.23908_23909insCTGCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC

Select item 149055485314.

rs1490554853 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 16:2494909 (GRCh38)
16:2544910 (GRCh37)
Canonical SPDI:: NC_000016.10:2494908:G:A,NC_000016.10:2494908:G:T
Gene:: TBC1D24 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000016.10:g.2494909G>A, NC_000016.10:g.2494909G>T, NC_000016.9:g.2544910G>A, NC_000016.9:g.2544910G>T, NG_028170.1:g.24764G>A, NG_028170.1:g.24764G>T

Select item 149045571915.

rs1490455719 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:2494049 (GRCh38)
16:2544050 (GRCh37)
Canonical SPDI:: NC_000016.10:2494048:C:T
Gene:: TBC1D24 (Varview)
Functional Consequence:: intron_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_000016.10:g.2494049C>T, NC_000016.9:g.2544050C>T, NG_028170.1:g.23904C>T

Select item 149035615916.

rs1490356159 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:2509344 (GRCh38)
16:2559345 (GRCh37)
Canonical SPDI:: NC_000016.10:2509343:C:T
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000022/3 (GnomAD)
HGVS:: NC_000016.10:g.2509344C>T, NC_000016.9:g.2559345C>T

Select item 149034636817.

rs1490346368 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTCTCTCTATATATAT>- [Show Flanks]
Chromosome:: 16:2506327 (GRCh38)
16:2556328 (GRCh37)
Canonical SPDI:: NC_000016.10:2506325:TCTCTCTCTATATATAT:T
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00017/2 (ALFA)
-=0.00026/25 (GnomAD)
HGVS:: NC_000016.10:g.2506327_2506342del, NC_000016.9:g.2556328_2556343del, NG_028170.1:g.36182_36197del

Select item 149026382118.

rs1490263821 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:2479148 (GRCh38)
16:2529149 (GRCh37)
Canonical SPDI:: NC_000016.10:2479147:C:T
Gene:: TBC1D24 (Varview)
Functional Consequence:: intron_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)
T=0.000177/3 (TOMMO)
HGVS:: NC_000016.10:g.2479148C>T, NC_000016.9:g.2529149C>T, NG_028170.1:g.9003C>T

Select item 149023102219.

rs1490231022 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:2493215 (GRCh38)
16:2543216 (GRCh37)
Canonical SPDI:: NC_000016.10:2493214:T:C
Gene:: TBC1D24 (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)
HGVS:: NC_000016.10:g.2493215T>C, NC_000016.9:g.2543216T>C, NG_028170.1:g.23070T>C

Select item 149021482520.

rs1490214825 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 16:2491019 (GRCh38)
16:2541020 (GRCh37)
Canonical SPDI:: NC_000016.10:2491018:C:A,NC_000016.10:2491018:C:T
Gene:: TBC1D24 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000016.10:g.2491019C>A, NC_000016.10:g.2491019C>T, NC_000016.9:g.2541020C>A, NC_000016.9:g.2541020C>T, NG_028170.1:g.20874C>A, NG_028170.1:g.20874C>T

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