SNP Links for Gene (Select 119559) - SNP

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Select item 14910405581.

rs1491040558 has merged into rs35023478 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 10:119164280 (GRCh38)
10:120923792 (GRCh37)
Canonical SPDI:: NC_000010.11:119164268:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000010.11:119164268:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000010.11:119164268:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000010.11:119164268:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000010.11:119164268:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000010.11:119164268:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000010.11:119164268:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000010.11:119164268:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000010.11:119164268:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000010.11:119164268:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000010.11:119164268:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:119164268:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SFXN4 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.3948/1977 (1000Genomes)
HGVS:: NC_000010.11:g.119164280_119164283del, NC_000010.11:g.119164281_119164283del, NC_000010.11:g.119164282_119164283del, NC_000010.11:g.119164283del, NC_000010.11:g.119164283dup, NC_000010.11:g.119164282_119164283dup, NC_000010.11:g.119164281_119164283dup, NC_000010.11:g.119164280_119164283dup, NC_000010.11:g.119164279_119164283dup, NC_000010.11:g.119164278_119164283dup, NC_000010.11:g.119164274_119164283dup, NC_000010.11:g.119164272_119164283dup, NC_000010.10:g.120923792_120923795del, NC_000010.10:g.120923793_120923795del, NC_000010.10:g.120923794_120923795del, NC_000010.10:g.120923795del, NC_000010.10:g.120923795dup, NC_000010.10:g.120923794_120923795dup, NC_000010.10:g.120923793_120923795dup, NC_000010.10:g.120923792_120923795dup, NC_000010.10:g.120923791_120923795dup, NC_000010.10:g.120923790_120923795dup, NC_000010.10:g.120923786_120923795dup, NC_000010.10:g.120923784_120923795dup, NG_033895.1:g.6421_6424del, NG_033895.1:g.6422_6424del, NG_033895.1:g.6423_6424del, NG_033895.1:g.6424del, NG_033895.1:g.6424dup, NG_033895.1:g.6423_6424dup, NG_033895.1:g.6422_6424dup, NG_033895.1:g.6421_6424dup, NG_033895.1:g.6420_6424dup, NG_033895.1:g.6419_6424dup, NG_033895.1:g.6415_6424dup, NG_033895.1:g.6413_6424dup

Select item 14909648032.

rs1490964803 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:119150428 (GRCh38)
10:120909940 (GRCh37)
Canonical SPDI:: NC_000010.11:119150427:G:A
Gene:: SFXN4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000010.11:g.119150428G>A, NC_000010.10:g.120909940G>A, NG_033895.1:g.20265C>T

Select item 14908952953.

rs1490895295 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:119165066 (GRCh38)
10:120924578 (GRCh37)
Canonical SPDI:: NC_000010.11:119165065:T:C
Gene:: SFXN4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.119165066T>C, NC_000010.10:g.120924578T>C, NG_033895.1:g.5627A>G

Select item 14907326204.

rs1490732620 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:119143434 (GRCh38)
10:120902946 (GRCh37)
Canonical SPDI:: NC_000010.11:119143433:C:T
Gene:: SFXN4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000010.11:g.119143434C>T, NC_000010.10:g.120902946C>T, NG_033895.1:g.27259G>A

Select item 14906819855.

rs1490681985 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 10:119144341 (GRCh38)
10:120903853 (GRCh37)
Canonical SPDI:: NC_000010.11:119144340:C:G
Gene:: SFXN4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.119144341C>G, NC_000010.10:g.120903853C>G, NG_033895.1:g.26352G>C

Select item 14903866216.

rs1490386621 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:119166207 (GRCh38)
10:120925719 (GRCh37)
Canonical SPDI:: NC_000010.11:119166206:A:G
Gene:: SFXN4 (Varview)
Functional Consequence:: 2KB_upstream_variant,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_000010.11:g.119166207A>G, NC_000010.10:g.120925719A>G, NG_033895.1:g.4486T>C

Select item 14902413147.

rs1490241314 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 10:119143959 (GRCh38)
10:120903471 (GRCh37)
Canonical SPDI:: NC_000010.11:119143958:CCC:CC
Gene:: SFXN4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.119143961del, NC_000010.10:g.120903473del, NG_033895.1:g.26734del

Select item 14902160618.

rs1490216061 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:119158558 (GRCh38)
10:120918070 (GRCh37)
Canonical SPDI:: NC_000010.11:119158557:A:G
Gene:: SFXN4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000010.11:g.119158558A>G, NC_000010.10:g.120918070A>G, NG_033895.1:g.12135T>C

Select item 14901908719.

rs1490190871 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:119144668 (GRCh38)
10:120904180 (GRCh37)
Canonical SPDI:: NC_000010.11:119144667:G:A
Gene:: SFXN4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000010.11:g.119144668G>A, NC_000010.10:g.120904180G>A, NG_033895.1:g.26025C>T

Select item 149014600810.

rs1490146008 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 10:119151377 (GRCh38)
10:120910889 (GRCh37)
Canonical SPDI:: NC_000010.11:119151376:C:A,NC_000010.11:119151376:C:G
Gene:: SFXN4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000122/2 (ALFA)
G=0.000009/1 (GnomAD)
HGVS:: NC_000010.11:g.119151377C>A, NC_000010.11:g.119151377C>G, NC_000010.10:g.120910889C>A, NC_000010.10:g.120910889C>G, NG_033895.1:g.19316G>T, NG_033895.1:g.19316G>C

Select item 149003864911.

rs1490038649 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:119153684 (GRCh38)
10:120913196 (GRCh37)
Canonical SPDI:: NC_000010.11:119153683:G:A
Gene:: SFXN4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.119153684G>A, NC_000010.10:g.120913196G>A, NG_033895.1:g.17009C>T

Select item 148998746612.

rs1489987466 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:119152327 (GRCh38)
10:120911839 (GRCh37)
Canonical SPDI:: NC_000010.11:119152326:T:C
Gene:: SFXN4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.119152327T>C, NC_000010.10:g.120911839T>C, NG_033895.1:g.18366A>G

Select item 148993145513.

rs1489931455 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:119165746 (GRCh38)
10:120925258 (GRCh37)
Canonical SPDI:: NC_000010.11:119165745:C:T
Gene:: SFXN4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
HGVS:: NC_000010.11:g.119165746C>T, NC_000010.10:g.120925258C>T, NG_033895.1:g.4947G>A

Select item 148975661414.

rs1489756614 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:119141596 (GRCh38)
10:120901108 (GRCh37)
Canonical SPDI:: NC_000010.11:119141595:C:T
Gene:: SFXN4 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.119141596C>T, NC_000010.10:g.120901108C>T, NG_033895.1:g.29097G>A

Select item 148972620415.

rs1489726204 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:119167625 (GRCh38)
10:120927137 (GRCh37)
Canonical SPDI:: NC_000010.11:119167624:G:A
Gene:: PRDX3 (Varview), SFXN4 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (KOREAN)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.119167625G>A, NC_000010.10:g.120927137G>A, NG_033895.1:g.3068C>T

Select item 148967704916.

rs1489677049 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:119156102 (GRCh38)
10:120915614 (GRCh37)
Canonical SPDI:: NC_000010.11:119156101:G:A
Gene:: SFXN4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000010.11:g.119156102G>A, NC_000010.10:g.120915614G>A, NG_033895.1:g.14591C>T

Select item 148965843017.

rs1489658430 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 10:119148578 (GRCh38)
10:120908090 (GRCh37)
Canonical SPDI:: NC_000010.11:119148577:G:A,NC_000010.11:119148577:G:C
Gene:: SFXN4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000021/3 (GnomAD)
HGVS:: NC_000010.11:g.119148578G>A, NC_000010.11:g.119148578G>C, NC_000010.10:g.120908090G>A, NC_000010.10:g.120908090G>C, NG_033895.1:g.22115C>T, NG_033895.1:g.22115C>G

Select item 148964260618.

rs1489642606 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 10:119142707 (GRCh38)
10:120902219 (GRCh37)
Canonical SPDI:: NC_000010.11:119142706:C:G,NC_000010.11:119142706:C:T
Gene:: SFXN4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.119142707C>G, NC_000010.11:g.119142707C>T, NC_000010.10:g.120902219C>G, NC_000010.10:g.120902219C>T, NG_033895.1:g.27986G>C, NG_033895.1:g.27986G>A

Select item 148938053119.

rs1489380531 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:119162527 (GRCh38)
10:120922039 (GRCh37)
Canonical SPDI:: NC_000010.11:119162526:C:T
Gene:: SFXN4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000010.11:g.119162527C>T, NC_000010.10:g.120922039C>T, NG_033895.1:g.8166G>A

Select item 148887251720.

rs1488872517 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:119160312 (GRCh38)
10:120919824 (GRCh37)
Canonical SPDI:: NC_000010.11:119160311:C:T
Gene:: SFXN4 (Varview)
Functional Consequence:: intron_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_000010.11:g.119160312C>T, NC_000010.10:g.120919824C>T, NG_033895.1:g.10381G>A

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