SNP Links for Gene (Select 390594) - SNP

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 20 of 1902

<< First< Prev

Page of 96

Next >Last >>

Select item 14909595561.

rs1490959556 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 15:65077391 (GRCh38)
15:65369729 (GRCh37)
Canonical SPDI:: NC_000015.10:65077390:G:C
Gene:: RASL12 (Varview), KBTBD13 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency
MAF:: C=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.65077391G>C, NC_000015.9:g.65369729G>C, NG_021411.1:g.5576G>C, NM_001101362.3:c.576G>C, NM_001101362.2:c.576G>C

Select item 14908701642.

rs1490870164 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 15:65075045 (GRCh38)
15:65367383 (GRCh37)
Canonical SPDI:: NC_000015.10:65075044:G:A,NC_000015.10:65075044:G:C
Gene:: RASL12 (Varview), KBTBD13 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000015/4 (TOPMED)
HGVS:: NC_000015.10:g.65075045G>A, NC_000015.10:g.65075045G>C, NC_000015.9:g.65367383G>A, NC_000015.9:g.65367383G>C, NG_021411.1:g.3230G>A, NG_021411.1:g.3230G>C

Select item 14899623783.

rs1489962378 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:65078573 (GRCh38)
15:65370911 (GRCh37)
Canonical SPDI:: NC_000015.10:65078572:T:C
Gene:: RASL12 (Varview), KBTBD13 (Varview)
Functional Consequence:: 2KB_upstream_variant,3_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000015.10:g.65078573T>C, NC_000015.9:g.65370911T>C, NG_021411.1:g.6758T>C, NM_001101362.3:c.*381T>C, NM_001101362.2:c.*381T>C

Select item 14898118384.

rs1489811838 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 15:65077172 (GRCh38)
15:65369510 (GRCh37)
Canonical SPDI:: NC_000015.10:65077171:C:G,NC_000015.10:65077171:C:T
Gene:: RASL12 (Varview), KBTBD13 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000134/3 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
G=0.000009/1 (GnomAD_exomes)
G=0.00067/3 (Estonian)
HGVS:: NC_000015.10:g.65077172C>G, NC_000015.10:g.65077172C>T, NC_000015.9:g.65369510C>G, NC_000015.9:g.65369510C>T, NG_021411.1:g.5357C>G, NG_021411.1:g.5357C>T, NM_001101362.3:c.357C>G, NM_001101362.3:c.357C>T, NM_001101362.2:c.357C>G, NM_001101362.2:c.357C>T

Select item 14896499815.

rs1489649981 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:65080131 (GRCh38)
15:65372469 (GRCh37)
Canonical SPDI:: NC_000015.10:65080130:T:C
Gene:: KBTBD13 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000054/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
C=0.000035/1 (TOMMO)
HGVS:: NC_000015.10:g.65080131T>C, NC_000015.9:g.65372469T>C, NG_021411.1:g.8316T>C

Select item 14891898956.

rs1489189895 [Homo sapiens]

Variant type:: DEL
Alleles:: TTATTAC>- [Show Flanks]
Chromosome:: 15:65076589 (GRCh38)
15:65368927 (GRCh37)
Canonical SPDI:: NC_000015.10:65076588:TTATTAC:
Gene:: RASL12 (Varview), KBTBD13 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant,genic_upstream_transcript_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.65076589_65076595del, NC_000015.9:g.65368927_65368933del, NG_021411.1:g.4774_4780del, XM_011521660.4:c.-46_-40del, XM_011521660.3:c.-46_-40del, XM_011521660.2:c.-46_-40del, XM_011521660.1:c.-46_-40del, NM_001379429.1:c.4_10del, NP_001366358.1:p.Val2fs

Select item 14886499547.

rs1488649954 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:65075152 (GRCh38)
15:65367490 (GRCh37)
Canonical SPDI:: NC_000015.10:65075151:G:A
Gene:: RASL12 (Varview), KBTBD13 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000015.10:g.65075152G>A, NC_000015.9:g.65367490G>A, NG_021411.1:g.3337G>A

Select item 14878717368.

rs1487871736 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:65077606 (GRCh38)
15:65369944 (GRCh37)
Canonical SPDI:: NC_000015.10:65077605:G:A
Gene:: RASL12 (Varview), KBTBD13 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
HGVS:: NC_000015.10:g.65077606G>A, NC_000015.9:g.65369944G>A, NG_021411.1:g.5791G>A, NM_001101362.3:c.791G>A, NM_001101362.2:c.791G>A, NP_001094832.1:p.Gly264Asp

Select item 14872965859.

rs1487296585 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:65076791 (GRCh38)
15:65369129 (GRCh37)
Canonical SPDI:: NC_000015.10:65076790:G:A
Gene:: RASL12 (Varview), KBTBD13 (Varview)
Functional Consequence:: 2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.65076791G>A, NC_000015.9:g.65369129G>A, NG_021411.1:g.4976G>A, NM_001101362.3:c.-25G>A

Select item 148654839210.

rs1486548392 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 15:65080024 (GRCh38)
15:65372362 (GRCh37)
Canonical SPDI:: NC_000015.10:65080023:T:A,NC_000015.10:65080023:T:C
Gene:: KBTBD13 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000015.10:g.65080024T>A, NC_000015.10:g.65080024T>C, NC_000015.9:g.65372362T>A, NC_000015.9:g.65372362T>C, NG_021411.1:g.8209T>A, NG_021411.1:g.8209T>C

Select item 148610971611.

rs1486109716 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:65077962 (GRCh38)
15:65370300 (GRCh37)
Canonical SPDI:: NC_000015.10:65077961:C:T
Gene:: RASL12 (Varview), KBTBD13 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
HGVS:: NC_000015.10:g.65077962C>T, NC_000015.9:g.65370300C>T, NG_021411.1:g.6147C>T, NM_001101362.3:c.1147C>T, NM_001101362.2:c.1147C>T, NP_001094832.1:p.Pro383Ser

Select item 148596179312.

rs1485961793 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 15:65075646 (GRCh38)
15:65367984 (GRCh37)
Canonical SPDI:: NC_000015.10:65075645:A:C
Gene:: RASL12 (Varview), KBTBD13 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.65075646A>C, NC_000015.9:g.65367984A>C, NG_021411.1:g.3831A>C

Select item 148560132113.

rs1485601321 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:65077326 (GRCh38)
15:65369664 (GRCh37)
Canonical SPDI:: NC_000015.10:65077325:G:A
Gene:: RASL12 (Varview), KBTBD13 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
A=0.000177/3 (TOMMO)
HGVS:: NC_000015.10:g.65077326G>A, NC_000015.9:g.65369664G>A, NG_021411.1:g.5511G>A, NM_001101362.3:c.511G>A, NM_001101362.2:c.511G>A, NP_001094832.1:p.Glu171Lys

Select item 148534500714.

rs1485345007 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:65077138 (GRCh38)
15:65369476 (GRCh37)
Canonical SPDI:: NC_000015.10:65077137:T:C
Gene:: RASL12 (Varview), KBTBD13 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000009/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.65077138T>C, NC_000015.9:g.65369476T>C, NG_021411.1:g.5323T>C, NM_001101362.3:c.323T>C, NM_001101362.2:c.323T>C, NP_001094832.1:p.Leu108Ser

Select item 148509779615.

rs1485097796 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 15:65075707 (GRCh38)
15:65368045 (GRCh37)
Canonical SPDI:: NC_000015.10:65075706:A:G,NC_000015.10:65075706:A:T
Gene:: RASL12 (Varview), KBTBD13 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,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)
G=0.000071/1 (TOMMO)
HGVS:: NC_000015.10:g.65075707A>G, NC_000015.10:g.65075707A>T, NC_000015.9:g.65368045A>G, NC_000015.9:g.65368045A>T, NG_021411.1:g.3892A>G, NG_021411.1:g.3892A>T

Select item 148475274016.

rs1484752740 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:65075962 (GRCh38)
15:65368300 (GRCh37)
Canonical SPDI:: NC_000015.10:65075961:A:G
Gene:: RASL12 (Varview), KBTBD13 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000015.10:g.65075962A>G, NC_000015.9:g.65368300A>G, NG_021411.1:g.4147A>G

Select item 148352156317.

rs1483521563 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:65079499 (GRCh38)
15:65371837 (GRCh37)
Canonical SPDI:: NC_000015.10:65079498:G:A
Gene:: KBTBD13 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.65079499G>A, NC_000015.9:g.65371837G>A, NG_021411.1:g.7684G>A, NM_001101362.3:c.*1307G>A, NM_001101362.2:c.*1307G>A

Select item 148310992918.

rs1483109929 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 15:65077333 (GRCh38)
15:65369671 (GRCh37)
Canonical SPDI:: NC_000015.10:65077332:C:G,NC_000015.10:65077332:C:T
Gene:: RASL12 (Varview), KBTBD13 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000015.10:g.65077333C>G, NC_000015.10:g.65077333C>T, NC_000015.9:g.65369671C>G, NC_000015.9:g.65369671C>T, NG_021411.1:g.5518C>G, NG_021411.1:g.5518C>T, NM_001101362.3:c.518C>G, NM_001101362.3:c.518C>T, NM_001101362.2:c.518C>G, NM_001101362.2:c.518C>T, NP_001094832.1:p.Ala173Gly, NP_001094832.1:p.Ala173Val

Select item 148294920819.

rs1482949208 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 15:65079541 (GRCh38)
15:65371879 (GRCh37)
Canonical SPDI:: NC_000015.10:65079540:C:G
Gene:: KBTBD13 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.65079541C>G, NC_000015.9:g.65371879C>G, NG_021411.1:g.7726C>G, NM_001101362.3:c.*1349C>G, NM_001101362.2:c.*1349C>G

Select item 148244680020.

rs1482446800 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 15:65076516 (GRCh38)
15:65368854 (GRCh37)
Canonical SPDI:: NC_000015.10:65076515:C:A
Gene:: RASL12 (Varview), KBTBD13 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.65076516C>A, NC_000015.9:g.65368854C>A, NG_021411.1:g.4701C>A

<< First< Prev

Page of 96

Next >Last >>

Supplemental Content

Filters: Manage Filters

Find related data

Recent activity

Clear Turn Off Turn On

SNP Links for Gene (Select 390594) (1902)
SNP

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to: