SNP Links for Nucleotide (Select 589269311) - SNP

Links from Nucleotide

Items: 1 to 20 of 486

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Select item 14872883391.

rs1487288339 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:48446515 (GRCh38)
17:46523877 (GRCh37)
Canonical SPDI:: NC_000017.11:48446514:C:A
Gene:: SKAP1 (Varview), LOC101927166 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.48446515C>A, NC_000017.10:g.46523877C>A, NR_110804.1:n.1122C>A

Select item 14865980902.

rs1486598090 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:48445734 (GRCh38)
17:46523096 (GRCh37)
Canonical SPDI:: NC_000017.11:48445733:A:G
Gene:: SKAP1 (Varview), LOC101927166 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000017.11:g.48445734A>G, NC_000017.10:g.46523096A>G, NR_110804.1:n.902A>G

Select item 14852453183.

rs1485245318 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:48455273 (GRCh38)
17:46532635 (GRCh37)
Canonical SPDI:: NC_000017.11:48455272:G:A
Gene:: LOC101927166 (Varview)
Functional Consequence:: non_coding_transcript_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.48455273G>A, NC_000017.10:g.46532635G>A, NR_110804.1:n.1618G>A

Select item 14847303044.

rs1484730304 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:48445833 (GRCh38)
17:46523195 (GRCh37)
Canonical SPDI:: NC_000017.11:48445832:G:T
Gene:: SKAP1 (Varview), LOC101927166 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_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.48445833G>T, NC_000017.10:g.46523195G>T, NR_110804.1:n.1001G>T

Select item 14842849595.

rs1484284959 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:48445023 (GRCh38)
17:46522385 (GRCh37)
Canonical SPDI:: NC_000017.11:48445022:G:A,NC_000017.11:48445022:G:T
Gene:: SKAP1 (Varview), LOC101927166 (Varview)
Functional Consequence:: 5_prime_UTR_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000021/3 (GnomAD)
T=0.00003/8 (TOPMED)
A=0.000106/2 (TOMMO)
HGVS:: NC_000017.11:g.48445023G>A, NC_000017.11:g.48445023G>T, NC_000017.10:g.46522385G>A, NC_000017.10:g.46522385G>T, NR_110804.1:n.191G>A, NR_110804.1:n.191G>T, XM_047436976.1:c.-69C>T, XM_047436976.1:c.-69C>A

Select item 14837962926.

rs1483796292 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 17:48445392 (GRCh38)
17:46522754 (GRCh37)
Canonical SPDI:: NC_000017.11:48445391:T:A
Gene:: SKAP1 (Varview), LOC101927166 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.0002/1 (ALFA)
A=0.0002/1 (Estonian)
HGVS:: NC_000017.11:g.48445392T>A, NC_000017.10:g.46522754T>A, NR_110804.1:n.560T>A

Select item 14836435157.

rs1483643515 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:48445294 (GRCh38)
17:46522656 (GRCh37)
Canonical SPDI:: NC_000017.11:48445293:A:G
Gene:: SKAP1 (Varview), LOC101927166 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_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.48445294A>G, NC_000017.10:g.46522656A>G, NR_110804.1:n.462A>G

Select item 14835380028.

rs1483538002 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:48465614 (GRCh38)
17:46542976 (GRCh37)
Canonical SPDI:: NC_000017.11:48465613:T:G
Gene:: LOC101927166 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000017.11:g.48465614T>G, NC_000017.10:g.46542976T>G, NR_110804.1:n.1839T>G

Select item 14817249639.

rs1481724963 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:48465990 (GRCh38)
17:46543352 (GRCh37)
Canonical SPDI:: NC_000017.11:48465989:T:G
Gene:: LOC101927166 (Varview)
Functional Consequence:: non_coding_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.48465990T>G, NC_000017.10:g.46543352T>G, NR_110804.1:n.2215T>G

Select item 148012121510.

rs1480121215 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:48445635 (GRCh38)
17:46522997 (GRCh37)
Canonical SPDI:: NC_000017.11:48445634:T:C
Gene:: SKAP1 (Varview), LOC101927166 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.48445635T>C, NC_000017.10:g.46522997T>C, NR_110804.1:n.803T>C

Select item 147502260011.

rs1475022600 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:48445289 (GRCh38)
17:46522651 (GRCh37)
Canonical SPDI:: NC_000017.11:48445288:A:T
Gene:: SKAP1 (Varview), LOC101927166 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.48445289A>T, NC_000017.10:g.46522651A>T, NR_110804.1:n.457A>T

Select item 147413552912.

rs1474135529 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:48444950 (GRCh38)
17:46522312 (GRCh37)
Canonical SPDI:: NC_000017.11:48444949:A:G
Gene:: SKAP1 (Varview), LOC101927166 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,missense_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.48444950A>G, NC_000017.10:g.46522312A>G, NR_110804.1:n.118A>G, XM_047436976.1:c.5T>C, XP_047292932.1:p.Val2Ala

Select item 147106070413.

rs1471060704 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:48445174 (GRCh38)
17:46522536 (GRCh37)
Canonical SPDI:: NC_000017.11:48445173:C:T
Gene:: SKAP1 (Varview), LOC101927166 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.48445174C>T, NC_000017.10:g.46522536C>T, NR_110804.1:n.342C>T

Select item 146982407614.

rs1469824076 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:48454238 (GRCh38)
17:46531600 (GRCh37)
Canonical SPDI:: NC_000017.11:48454237:G:A
Gene:: LOC101927166 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000009/1 (GnomAD)
HGVS:: NC_000017.11:g.48454238G>A, NC_000017.10:g.46531600G>A, NR_110804.1:n.1347G>A

Select item 146746565315.

rs1467465653 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:48445438 (GRCh38)
17:46522800 (GRCh37)
Canonical SPDI:: NC_000017.11:48445437:C:T
Gene:: SKAP1 (Varview), LOC101927166 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.48445438C>T, NC_000017.10:g.46522800C>T, NR_110804.1:n.606C>T

Select item 146588253716.

rs1465882537 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:48445727 (GRCh38)
17:46523089 (GRCh37)
Canonical SPDI:: NC_000017.11:48445726:A:G
Gene:: SKAP1 (Varview), LOC101927166 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0./0 (Korea1K)
G=0.000007/1 (GnomAD)
G=0.000015/4 (TOPMED)
G=0.000035/1 (TOMMO)
G=0.000342/1 (KOREAN)
HGVS:: NC_000017.11:g.48445727A>G, NC_000017.10:g.46523089A>G, NR_110804.1:n.895A>G

Select item 146338814417.

rs1463388144 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:48444938 (GRCh38)
17:46522300 (GRCh37)
Canonical SPDI:: NC_000017.11:48444937:T:C
Gene:: SKAP1 (Varview), LOC101927166 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.004717/1 (Vietnamese)
HGVS:: NC_000017.11:g.48444938T>C, NC_000017.10:g.46522300T>C, NR_110804.1:n.106T>C, XM_047436976.1:c.17A>G, XP_047292932.1:p.Lys6Arg

Select item 146038398418.

rs1460383984 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:48454181 (GRCh38)
17:46531543 (GRCh37)
Canonical SPDI:: NC_000017.11:48454180:T:C
Gene:: LOC101927166 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000102/27 (TOPMED)
C=0.000143/20 (GnomAD)
HGVS:: NC_000017.11:g.48454181T>C, NC_000017.10:g.46531543T>C, NR_110804.1:n.1290T>C

Select item 145860988419.

rs1458609884 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:48445549 (GRCh38)
17:46522911 (GRCh37)
Canonical SPDI:: NC_000017.11:48445548:C:T
Gene:: SKAP1 (Varview), LOC101927166 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.48445549C>T, NC_000017.10:g.46522911C>T, NR_110804.1:n.717C>T

Select item 145450724220.

rs1454507242 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:48445099 (GRCh38)
17:46522461 (GRCh37)
Canonical SPDI:: NC_000017.11:48445098:C:T
Gene:: SKAP1 (Varview), LOC101927166 (Varview)
Functional Consequence:: non_coding_transcript_variant,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.48445099C>T, NC_000017.10:g.46522461C>T, NR_110804.1:n.267C>T

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