SNP Links for Gene (Select 645832) - SNP

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Select item 14907399241.

rs1490739924 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:28364682 (GRCh38)
17:26691704 (GRCh37)
Canonical SPDI:: NC_000017.11:28364681:C:G
Gene:: SEBOX (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000005/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.28364682C>G, NC_000017.10:g.26691704C>G, NG_046803.1:g.12102C>G, NW_003871090.1:g.46546C>G

Select item 14889000062.

rs1488900006 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:28366075 (GRCh38)
17:26693096 (GRCh37)
Canonical SPDI:: NC_000017.11:28366074:C:A
Gene:: SEBOX (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.28366075C>A, NC_000017.10:g.26693096C>A, NW_003871090.1:g.47938C>A

Select item 14880908593.

rs1488090859 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:28364246 (GRCh38)
17:26691268 (GRCh37)
Canonical SPDI:: NC_000017.11:28364245:C:A
Gene:: SEBOX (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.28364246C>A, NC_000017.10:g.26691268C>A, NG_046803.1:g.11666C>A, NW_003871090.1:g.46110C>A, NM_001080837.4:c.*22G>T

Select item 14856412344.

rs1485641234 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:28365188 (GRCh38)
17:26692210 (GRCh37)
Canonical SPDI:: NC_000017.11:28365187:C:T
Gene:: SEBOX (Varview)
Functional Consequence:: 5_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_000017.11:g.28365188C>T, NC_000017.10:g.26692210C>T, NG_046803.1:g.12608C>T, NW_003871090.1:g.47052C>T, NM_001080837.4:c.-37G>A, NM_001080837.2:c.42G>A

Select item 14842003275.

rs1484200327 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 17:28365961 (GRCh38)
17:26692982 (GRCh37)
Canonical SPDI:: NC_000017.11:28365959:TCT:T
Gene:: SEBOX (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000142/2 (ALFA)
-=0.000038/10 (TOPMED)
-=0.000043/6 (GnomAD)
HGVS:: NC_000017.11:g.28365961_28365962del, NC_000017.10:g.26692982_26692983del, NW_003871090.1:g.47824_47825del

Select item 14825613956.

rs1482561395 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:28366364 (GRCh38)
17:26693385 (GRCh37)
Canonical SPDI:: NC_000017.11:28366363:C:T
Gene:: SEBOX (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000017.11:g.28366364C>T, NC_000017.10:g.26693385C>T, NW_003871090.1:g.48227C>T

Select item 14822303867.

rs1482230386 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 17:28366830 (GRCh38)
17:26693851 (GRCh37)
Canonical SPDI:: NC_000017.11:28366829:T:A,NC_000017.11:28366829:T:G
Gene:: VTN (Varview), SEBOX (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000021/3 (GnomAD)
HGVS:: NC_000017.11:g.28366830T>A, NC_000017.11:g.28366830T>G, NC_000017.10:g.26693851T>A, NC_000017.10:g.26693851T>G, NW_003871090.1:g.48693T>A, NW_003871090.1:g.48693T>G

Select item 14819135908.

rs1481913590 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:28364096 (GRCh38)
17:26691118 (GRCh37)
Canonical SPDI:: NC_000017.11:28364095:G:C
Gene:: TMEM199 (Varview), SEBOX (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000017.11:g.28364096G>C, NC_000017.10:g.26691118G>C, NG_046803.1:g.11516G>C, NW_003871090.1:g.45960G>C, NM_001080837.4:c.*172C>G

Select item 14813899159.

rs1481389915 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:28363828 (GRCh38)
17:26690850 (GRCh37)
Canonical SPDI:: NC_000017.11:28363827:G:A
Gene:: TMEM199 (Varview), SEBOX (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000017.11:g.28363828G>A, NC_000017.10:g.26690850G>A, NG_046803.1:g.11248G>A, NW_003871090.1:g.45692G>A, NM_001080837.4:c.*440C>T

Select item 148001310410.

rs1480013104 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:28365400 (GRCh38)
17:26692421 (GRCh37)
Canonical SPDI:: NC_000017.11:28365399:A:G
Gene:: SEBOX (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_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_000017.11:g.28365400A>G, NC_000017.10:g.26692421A>G, NG_046803.1:g.12820A>G, NW_003871090.1:g.47263A>G

Select item 147939484911.

rs1479394849 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:28364663 (GRCh38)
17:26691685 (GRCh37)
Canonical SPDI:: NC_000017.11:28364662:G:A
Gene:: SEBOX (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.28364663G>A, NC_000017.10:g.26691685G>A, NG_046803.1:g.12083G>A, NW_003871090.1:g.46527G>A

Select item 147881066012.

rs1478810660 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:28365727 (GRCh38)
17:26692748 (GRCh37)
Canonical SPDI:: NC_000017.11:28365726:C:T
Gene:: SEBOX (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.28365727C>T, NC_000017.10:g.26692748C>T, NW_003871090.1:g.47590C>T

Select item 147878059813.

rs1478780598 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:28366695 (GRCh38)
17:26693716 (GRCh37)
Canonical SPDI:: NC_000017.11:28366694:G:A,NC_000017.11:28366694:G:T
Gene:: SEBOX (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.28366695G>A, NC_000017.11:g.28366695G>T, NC_000017.10:g.26693716G>A, NC_000017.10:g.26693716G>T, NW_003871090.1:g.48558G>A, NW_003871090.1:g.48558G>T

Select item 147687625014.

rs1476876250 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:28366563 (GRCh38)
17:26693584 (GRCh37)
Canonical SPDI:: NC_000017.11:28366562:C:T
Gene:: SEBOX (Varview)
Functional Consequence:: 2KB_upstream_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)
HGVS:: NC_000017.11:g.28366563C>T, NC_000017.10:g.26693584C>T, NW_003871090.1:g.48426C>T

Select item 147373105715.

rs1473731057 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:28367058 (GRCh38)
17:26694079 (GRCh37)
Canonical SPDI:: NC_000017.11:28367057:T:C
Gene:: VTN (Varview), SEBOX (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.28367058T>C, NC_000017.10:g.26694079T>C, NW_003871090.1:g.48921T>C

Select item 147272879216.

rs1472728792 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:28366817 (GRCh38)
17:26693838 (GRCh37)
Canonical SPDI:: NC_000017.11:28366816:G:A
Gene:: VTN (Varview), SEBOX (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000106/2 (TOMMO)
A=0.000342/1 (KOREAN)
A=0.000546/1 (Korea1K)
HGVS:: NC_000017.11:g.28366817G>A, NC_000017.10:g.26693838G>A, NW_003871090.1:g.48680G>A

Select item 147227093117.

rs1472270931 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 17:28363961 (GRCh38)
17:26690983 (GRCh37)
Canonical SPDI:: NC_000017.11:28363960:T:C,NC_000017.11:28363960:T:G
Gene:: TMEM199 (Varview), SEBOX (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000072/10 (GnomAD)
C=0.000087/23 (TOPMED)
G=0.001638/3 (Korea1K)
HGVS:: NC_000017.11:g.28363961T>C, NC_000017.11:g.28363961T>G, NC_000017.10:g.26690983T>C, NC_000017.10:g.26690983T>G, NG_046803.1:g.11381T>C, NG_046803.1:g.11381T>G, NW_003871090.1:g.45825T>C, NW_003871090.1:g.45825T>G, NM_001080837.4:c.*307A>G, NM_001080837.4:c.*307A>C

Select item 147196463118.

rs1471964631 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:28366464 (GRCh38)
17:26693485 (GRCh37)
Canonical SPDI:: NC_000017.11:28366463:A:G
Gene:: SEBOX (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_000017.11:g.28366464A>G, NC_000017.10:g.26693485A>G, NW_003871090.1:g.48327A>G

Select item 147163242919.

rs1471632429 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:28366966 (GRCh38)
17:26693987 (GRCh37)
Canonical SPDI:: NC_000017.11:28366965:A:C
Gene:: VTN (Varview), SEBOX (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
C=0.000029/4 (GnomAD)
HGVS:: NC_000017.11:g.28366966A>C, NC_000017.10:g.26693987A>C, NW_003871090.1:g.48829A>C

Select item 147060051120.

rs1470600511 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 17:28364300 (GRCh38)
17:26691323 (GRCh37)
Canonical SPDI:: NC_000017.11:28364300:GG:GGG
Gene:: SEBOX (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: GGG=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.28364302dup, NC_000017.10:g.26691324dup, NG_046803.1:g.11722dup, NW_003871090.1:g.46166dup, NM_001080837.4:c.540dup, NM_001080837.3:c.540dup, NM_001080837.2:c.618dup, NM_001083896.1:c.615dup, NP_001074306.3:p.Ala182fs

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