SKAP2 - SNP

Search results

Items: 1 to 20 of 74931

<< First< Prev

Page of 3747

Next >Last >>

Select item 171544021.

rs17154402 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 7:26725466 (GRCh38)
7:26765085 (GRCh37)
Canonical SPDI:: NC_000007.14:26725465:C:G,NC_000007.14:26725465:C:T
Gene:: SKAP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.001275/140 (ALFA)
C=0./0 (SGDP_PRJ)
G=0.001873/1 (MGP)
G=0.004302/1074 (GnomAD_exomes)
G=0.00463/1 (Qatari)
G=0.005095/616 (ExAC)
G=0.018274/4837 (TOPMED)
G=0.019379/252 (GoESP)
G=0.019675/99 (1000Genomes)
G=0.026404/2078 (PAGE_STUDY)
G=0.030303/10 (HapMap)
HGVS:: NC_000007.14:g.26725466C>G, NC_000007.14:g.26725466C>T, NC_000007.13:g.26765085C>G, NC_000007.13:g.26765085C>T, NM_003930.5:c.758G>C, NM_003930.5:c.758G>A, NM_003930.4:c.758G>C, NM_003930.4:c.758G>A, NM_003930.3:c.758G>C, NM_003930.3:c.758G>A, XM_017012771.3:c.758G>C, XM_017012771.3:c.758G>A, XM_017012771.2:c.758G>C, XM_017012771.2:c.758G>A, XM_017012771.1:c.758G>C, XM_017012771.1:c.758G>A, NM_001303468.2:c.242G>C, NM_001303468.2:c.242G>A, NM_001303468.1:c.242G>C, NM_001303468.1:c.242G>A, XM_047421010.1:c.242G>C, XM_047421010.1:c.242G>A, NP_003921.2:p.Ser253Thr, NP_003921.2:p.Ser253Asn, XP_016868260.1:p.Ser253Thr, XP_016868260.1:p.Ser253Asn, NP_001290397.1:p.Ser81Thr, NP_001290397.1:p.Ser81Asn, XP_047276966.1:p.Ser81Thr, XP_047276966.1:p.Ser81Asn

PubMed

Select item 345067512.

rs34506751 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:26738871 (GRCh38)
7:26778490 (GRCh37)
Canonical SPDI:: NC_000007.14:26738870:G:A
Gene:: SKAP2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,5_prime_UTR_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.005099/286 (ALFA)
A=0.000519/2 (ALSPAC)
A=0.000539/2 (TWINSUK)
A=0.001873/1 (MGP)
A=0.005252/1316 (GnomAD_exomes)
A=0.006158/745 (ExAC)
A=0.009259/2 (Qatari)
A=0.019967/2798 (GnomAD)
A=0.021375/278 (GoESP)
A=0.021478/5685 (TOPMED)
A=0.02639/132 (1000Genomes)
G=0.5/3 (SGDP_PRJ)
HGVS:: NC_000007.14:g.26738871G>A, NC_000007.13:g.26778490G>A, NM_003930.5:c.393C>T, NM_003930.4:c.393C>T, NM_003930.3:c.393C>T, XM_017012771.3:c.393C>T, XM_017012771.2:c.393C>T, XM_017012771.1:c.393C>T, NM_001303468.2:c.-124C>T, NM_001303468.1:c.-124C>T, XM_047421010.1:c.-124C>T

Select item 1379385293.

rs137938529 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:26864395 (GRCh38)
7:26904014 (GRCh37)
Canonical SPDI:: NC_000007.14:26864394:G:A
Gene:: SKAP2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.002479/479 (ALFA)
A=0.000519/2 (ALSPAC)
A=0.000539/2 (TWINSUK)
A=0.006634/1650 (GnomAD_exomes)
A=0.007836/938 (ExAC)
A=0.009259/2 (Qatari)
A=0.025622/3591 (GnomAD)
A=0.027477/7273 (TOPMED)
A=0.027987/364 (GoESP)
A=0.0292/146 (1000Genomes)
A=0.041666/3279 (PAGE_STUDY)
G=0.5/4 (SGDP_PRJ)
HGVS:: NC_000007.14:g.26864395G>A, NC_000007.13:g.26904014G>A, NM_003930.5:c.35C>T, NM_003930.4:c.35C>T, NM_003930.3:c.35C>T, XM_017012771.3:c.35C>T, XM_017012771.2:c.35C>T, XM_017012771.1:c.35C>T, NP_003921.2:p.Pro12Leu, XP_016868260.1:p.Pro12Leu

Select item 609447244.

rs60944724 has merged into rs17154402 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 7:26725466 (GRCh38)
7:26765085 (GRCh37)
Canonical SPDI:: NC_000007.14:26725465:C:G,NC_000007.14:26725465:C:T
Gene:: SKAP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.001275/140 (ALFA)
C=0./0 (SGDP_PRJ)
G=0.001873/1 (MGP)
G=0.004302/1074 (GnomAD_exomes)
G=0.00463/1 (Qatari)
G=0.005095/616 (ExAC)
G=0.018274/4837 (TOPMED)
G=0.019379/252 (GoESP)
G=0.019675/99 (1000Genomes)
G=0.026404/2078 (PAGE_STUDY)
G=0.030303/10 (HapMap)
HGVS:: NC_000007.14:g.26725466C>G, NC_000007.14:g.26725466C>T, NC_000007.13:g.26765085C>G, NC_000007.13:g.26765085C>T, NM_003930.5:c.758G>C, NM_003930.5:c.758G>A, NM_003930.4:c.758G>C, NM_003930.4:c.758G>A, NM_003930.3:c.758G>C, NM_003930.3:c.758G>A, XM_017012771.3:c.758G>C, XM_017012771.3:c.758G>A, XM_017012771.2:c.758G>C, XM_017012771.2:c.758G>A, XM_017012771.1:c.758G>C, XM_017012771.1:c.758G>A, NM_001303468.2:c.242G>C, NM_001303468.2:c.242G>A, NM_001303468.1:c.242G>C, NM_001303468.1:c.242G>A, XM_047421010.1:c.242G>C, XM_047421010.1:c.242G>A, NP_003921.2:p.Ser253Thr, NP_003921.2:p.Ser253Asn, XP_016868260.1:p.Ser253Thr, XP_016868260.1:p.Ser253Asn, NP_001290397.1:p.Ser81Thr, NP_001290397.1:p.Ser81Asn, XP_047276966.1:p.Ser81Thr, XP_047276966.1:p.Ser81Asn

Select item 528341995.

rs52834199 has merged into rs17154402 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 7:26725466 (GRCh38)
7:26765085 (GRCh37)
Canonical SPDI:: NC_000007.14:26725465:C:G,NC_000007.14:26725465:C:T
Gene:: SKAP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.001275/140 (ALFA)
C=0./0 (SGDP_PRJ)
G=0.001873/1 (MGP)
G=0.004302/1074 (GnomAD_exomes)
G=0.00463/1 (Qatari)
G=0.005095/616 (ExAC)
G=0.018274/4837 (TOPMED)
G=0.019379/252 (GoESP)
G=0.019675/99 (1000Genomes)
G=0.026404/2078 (PAGE_STUDY)
G=0.030303/10 (HapMap)
HGVS:: NC_000007.14:g.26725466C>G, NC_000007.14:g.26725466C>T, NC_000007.13:g.26765085C>G, NC_000007.13:g.26765085C>T, NM_003930.5:c.758G>C, NM_003930.5:c.758G>A, NM_003930.4:c.758G>C, NM_003930.4:c.758G>A, NM_003930.3:c.758G>C, NM_003930.3:c.758G>A, XM_017012771.3:c.758G>C, XM_017012771.3:c.758G>A, XM_017012771.2:c.758G>C, XM_017012771.2:c.758G>A, XM_017012771.1:c.758G>C, XM_017012771.1:c.758G>A, NM_001303468.2:c.242G>C, NM_001303468.2:c.242G>A, NM_001303468.1:c.242G>C, NM_001303468.1:c.242G>A, XM_047421010.1:c.242G>C, XM_047421010.1:c.242G>A, NP_003921.2:p.Ser253Thr, NP_003921.2:p.Ser253Asn, XP_016868260.1:p.Ser253Thr, XP_016868260.1:p.Ser253Asn, NP_001290397.1:p.Ser81Thr, NP_001290397.1:p.Ser81Asn, XP_047276966.1:p.Ser81Thr, XP_047276966.1:p.Ser81Asn

Select item 131866.

rs13186 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 7:26668038 (GRCh38)
7:26707657 (GRCh37)
Canonical SPDI:: NC_000007.14:26668037:C:A,NC_000007.14:26668037:C:G,NC_000007.14:26668037:C:T
Gene:: SKAP2 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.453963/112967 (ALFA)
T=0./0 (KOREAN)
C=0.120087/220 (Korea1K)
C=0.123393/96 (PRJEB37584)
C=0.148148/8 (Siberian)
C=0.160769/2694 (TOMMO)
C=0.226872/103 (SGDP_PRJ)
C=0.359821/1612 (Estonian)
C=0.36/216 (NorthernSweden)
A=0.384259/83 (Qatari)
C=0.4/16 (GENOME_DK)
C=0.411824/411 (GoNL)
C=0.421558/790 (HapMap)
C=0.429575/2151 (1000Genomes)
C=0.43932/1629 (TWINSUK)
C=0.457447/1763 (ALSPAC)
C=0.487242/38345 (PAGE_STUDY)
C=0.491409/68529 (GnomAD)
C=0.498043/131827 (TOPMED)
HGVS:: NC_000007.14:g.26668038C>A, NC_000007.14:g.26668038C>G, NC_000007.14:g.26668038C>T, NC_000007.13:g.26707657C>A, NC_000007.13:g.26707657C>G, NC_000007.13:g.26707657C>T, NM_003930.5:c.*1628G>T, NM_003930.5:c.*1628G>C, NM_003930.5:c.*1628G>A, NM_003930.4:c.*1628G>T, NM_003930.4:c.*1628G>C, NM_003930.4:c.*1628G>A, NM_003930.3:c.*1628T>G, NM_003930.3:c.*1628T>C, NM_003930.3:c.*1628T>A, NM_001303468.2:c.*1628G>T, NM_001303468.2:c.*1628G>C, NM_001303468.2:c.*1628G>A, NM_001303468.1:c.*1628G>T, NM_001303468.1:c.*1628G>C, NM_001303468.1:c.*1628G>A, XM_047421010.1:c.*1628G>T, XM_047421010.1:c.*1628G>C, XM_047421010.1:c.*1628G>A

Select item 1698737.

rs169873 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 7:26668907 (GRCh38)
7:26708526 (GRCh37)
Canonical SPDI:: NC_000007.14:26668906:T:G
Gene:: SKAP2 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by cluster
MAF:: G=0./0 (HapMap)
G=0.0136/25 (Korea1K)
HGVS:: NC_000007.14:g.26668907T>G, NC_000007.13:g.26708526T>G, NM_003930.5:c.*759A>C, NM_003930.4:c.*759A>C, NM_003930.3:c.*759A>C, NM_001303468.2:c.*759A>C, NM_001303468.1:c.*759A>C, XM_047421010.1:c.*759A>C

Select item 1900338.

rs190033 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:26668959 (GRCh38)
7:26708578 (GRCh37)
Canonical SPDI:: NC_000007.14:26668958:G:A
Gene:: SKAP2 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by cluster
MAF:: A=0./0 (HapMap)
HGVS:: NC_000007.14:g.26668959G>A, NC_000007.13:g.26708578G>A, NM_003930.5:c.*707C>T, NM_003930.4:c.*707C>T, NM_003930.3:c.*707C>T, NM_001303468.2:c.*707C>T, NM_001303468.1:c.*707C>T, XM_047421010.1:c.*707C>T

Select item 2128379.

rs212837 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 7:26655596 (GRCh38)
7:26695215 (GRCh37)
Canonical SPDI:: NC_000007.14:26655595:T:A,NC_000007.14:26655595:T:C
Gene:: SKAP2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.389825/72661 (ALFA)
T=0.090909/2 (PRJEB36033)
T=0.211538/11 (Siberian)
T=0.28125/126 (SGDP_PRJ)
T=0.310491/1391 (Estonian)
T=0.353316/5921 (TOMMO)
T=0.355/213 (NorthernSweden)
T=0.366733/366 (GoNL)
T=0.367358/673 (Korea1K)
T=0.367577/1077 (KOREAN)
T=0.376214/1395 (TWINSUK)
T=0.393358/1516 (ALSPAC)
T=0.397793/829 (HGDP_Stanford)
T=0.425/17 (GENOME_DK)
T=0.435185/94 (Qatari)
T=0.455718/63775 (GnomAD)
T=0.468446/123993 (TOPMED)
T=0.472361/2366 (1000Genomes)
T=0.48861/858 (HapMap)
T=0.5/107 (Vietnamese)
HGVS:: NC_000007.14:g.26655596T>A, NC_000007.14:g.26655596T>C, NC_000007.13:g.26695215T>A, NC_000007.13:g.26695215T>C, XM_017012771.3:c.*2348A>T, XM_017012771.3:c.*2348A>G, XM_017012771.2:c.*2348A>T, XM_017012771.2:c.*2348A>G, XM_017012771.1:c.*2348A>T, XM_017012771.1:c.*2348A>G

Select item 21283810.

rs212838 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 7:26658575 (GRCh38)
7:26698194 (GRCh37)
Canonical SPDI:: NC_000007.14:26658574:T:A,NC_000007.14:26658574:T:C,NC_000007.14:26658574:T:G
Gene:: SKAP2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.200146/3553 (ALFA)
T=0.096008/1609 (TOMMO)
T=0.1/293 (KOREAN)
T=0.108624/199 (Korea1K)
T=0.115242/62 (SGDP_PRJ)
T=0.116822/25 (Vietnamese)
T=0.118182/39 (HapMap)
T=0.125/7 (Siberian)
T=0.135228/677 (1000Genomes)
T=0.171759/45463 (TOPMED)
T=0.176482/24686 (GnomAD)
T=0.178795/801 (Estonian)
T=0.2/120 (NorthernSweden)
T=0.25/10 (GENOME_DK)
T=0.251503/251 (GoNL)
T=0.259211/999 (ALSPAC)
T=0.260248/965 (TWINSUK)
T=0.263889/57 (Qatari)
HGVS:: NC_000007.14:g.26658575T>A, NC_000007.14:g.26658575T>C, NC_000007.14:g.26658575T>G, NC_000007.13:g.26698194T>A, NC_000007.13:g.26698194T>C, NC_000007.13:g.26698194T>G

Select item 21283911.

rs212839 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 7:26660611 (GRCh38)
7:26700230 (GRCh37)
Canonical SPDI:: NC_000007.14:26660610:T:A,NC_000007.14:26660610:T:G
Gene:: SKAP2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.284112/5397 (ALFA)
G=0.254154/67272 (TOPMED)
G=0.25463/55 (Qatari)
G=0.258844/36205 (GnomAD)
G=0.289819/1451 (1000Genomes)
T=0.295455/13 (Siberian)
G=0.304619/1174 (ALSPAC)
G=0.312567/1159 (TWINSUK)
G=0.318182/35 (HapMap)
G=0.330661/330 (GoNL)
G=0.332143/1488 (Estonian)
G=0.338339/383 (Daghestan)
G=0.35/14 (GENOME_DK)
T=0.36039/111 (SGDP_PRJ)
G=0.363333/218 (NorthernSweden)
G=0.424528/90 (Vietnamese)
G=0.47099/1380 (KOREAN)
G=0.474891/870 (Korea1K)
T=0.477916/8009 (TOMMO)
HGVS:: NC_000007.14:g.26660611T>A, NC_000007.14:g.26660611T>G, NC_000007.13:g.26700230T>A, NC_000007.13:g.26700230T>G

Select item 21284012.

rs212840 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 7:26661383 (GRCh38)
7:26701002 (GRCh37)
Canonical SPDI:: NC_000007.14:26661382:A:C,NC_000007.14:26661382:A:T
Gene:: SKAP2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.49538/5040 (ALFA)
A=0.117065/343 (KOREAN)
A=0.123908/227 (Korea1K)
A=0.134259/29 (Vietnamese)
A=0.148148/8 (Siberian)
A=0.16347/2739 (TOMMO)
A=0.208333/100 (SGDP_PRJ)
A=0.318182/105 (HapMap)
A=0.337289/1689 (1000Genomes)
A=0.359375/1610 (Estonian)
A=0.36/216 (NorthernSweden)
A=0.4/16 (GENOME_DK)
A=0.407523/56988 (GnomAD)
A=0.408425/108106 (TOPMED)
A=0.40982/409 (GoNL)
A=0.436354/1618 (TWINSUK)
A=0.453295/1747 (ALSPAC)
C=0.462963/100 (Qatari)
HGVS:: NC_000007.14:g.26661383A>C, NC_000007.14:g.26661383A>T, NC_000007.13:g.26701002A>C, NC_000007.13:g.26701002A>T

Select item 21284213.

rs212842 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 7:26672198 (GRCh38)
7:26711817 (GRCh37)
Canonical SPDI:: NC_000007.14:26672197:A:C,NC_000007.14:26672197:A:G
Gene:: SKAP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.446078/46600 (ALFA)
A=0.110922/325 (KOREAN)
A=0.119541/219 (Korea1K)
A=0.148148/8 (Siberian)
A=0.152778/33 (Vietnamese)
A=0.160875/2696 (TOMMO)
A=0.20332/98 (SGDP_PRJ)
C=0.263158/10 (PRJEB36033)
A=0.305085/576 (HapMap)
A=0.310461/647 (HGDP_Stanford)
A=0.318551/1595 (1000Genomes)
A=0.357366/1601 (Estonian)
A=0.36/216 (NorthernSweden)
A=0.38703/102443 (TOPMED)
A=0.4/16 (GENOME_DK)
A=0.403808/403 (GoNL)
A=0.433927/1609 (TWINSUK)
A=0.452776/1745 (ALSPAC)
C=0.472222/102 (Qatari)
HGVS:: NC_000007.14:g.26672198A>C, NC_000007.14:g.26672198A>G, NC_000007.13:g.26711817A>C, NC_000007.13:g.26711817A>G

Select item 21284314.

rs212843 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 7:26673786 (GRCh38)
7:26713405 (GRCh37)
Canonical SPDI:: NC_000007.14:26673785:G:A,NC_000007.14:26673785:G:C
Gene:: SKAP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
C=0./0 (HapMap)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.26673786G>A, NC_000007.14:g.26673786G>C, NC_000007.13:g.26713405G>A, NC_000007.13:g.26713405G>C

Select item 21284415.

rs212844 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:26676839 (GRCh38)
7:26716458 (GRCh37)
Canonical SPDI:: NC_000007.14:26676838:G:C
Gene:: SKAP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.452303/8544 (ALFA)
G=0.110922/325 (KOREAN)
G=0.119541/219 (Korea1K)
G=0.14486/31 (Vietnamese)
G=0.148148/8 (Siberian)
G=0.16091/2697 (TOMMO)
G=0.236287/112 (SGDP_PRJ)
G=0.357589/1602 (Estonian)
G=0.361667/217 (NorthernSweden)
C=0.375/81 (Qatari)
G=0.385802/125 (HapMap)
G=0.40982/409 (GoNL)
G=0.417239/2090 (1000Genomes)
G=0.425/17 (GENOME_DK)
G=0.440939/1635 (TWINSUK)
G=0.456928/1761 (ALSPAC)
G=0.478233/66944 (GnomAD)
G=0.483449/127964 (TOPMED)
HGVS:: NC_000007.14:g.26676839G>C, NC_000007.13:g.26716458G>C

Select item 21284516.

rs212845 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:26677908 (GRCh38)
7:26717527 (GRCh37)
Canonical SPDI:: NC_000007.14:26677907:C:T
Gene:: SKAP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.476654/9004 (ALFA)
C=0.22/11 (Siberian)
T=0.285714/12 (PRJEB36033)
T=0.314815/68 (Qatari)
C=0.317734/129 (SGDP_PRJ)
C=0.347972/5831 (TOMMO)
C=0.354266/1038 (KOREAN)
C=0.356441/653 (Korea1K)
T=0.430288/113893 (TOPMED)
C=0.43683/1957 (Estonian)
T=0.441261/61758 (GnomAD)
C=0.448333/269 (NorthernSweden)
C=0.45/18 (GENOME_DK)
T=0.452842/2268 (1000Genomes)
C=0.458918/458 (GoNL)
C=0.475189/1762 (TWINSUK)
T=0.490476/103 (Vietnamese)
C=0.493254/1901 (ALSPAC)
HGVS:: NC_000007.14:g.26677908C>T, NC_000007.13:g.26717527C>T

Select item 21284617.

rs212846 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 7:26681994 (GRCh38)
7:26721613 (GRCh37)
Canonical SPDI:: NC_000007.14:26681993:C:G,NC_000007.14:26681993:C:T
Gene:: SKAP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.459449/8679 (ALFA)
C=0.111263/326 (KOREAN)
C=0.119541/219 (Korea1K)
C=0.142857/30 (Vietnamese)
C=0.148148/8 (Siberian)
C=0.161016/2698 (TOMMO)
C=0.233624/107 (SGDP_PRJ)
C=0.358482/1606 (Estonian)
C=0.361667/217 (NorthernSweden)
T=0.37037/80 (Qatari)
C=0.408818/408 (GoNL)
C=0.410891/83 (HapMap)
C=0.425/17 (GENOME_DK)
C=0.428638/2147 (1000Genomes)
C=0.442287/1640 (TWINSUK)
C=0.457966/1765 (ALSPAC)
C=0.491639/68738 (GnomAD)
C=0.497733/131745 (TOPMED)
HGVS:: NC_000007.14:g.26681994C>G, NC_000007.14:g.26681994C>T, NC_000007.13:g.26721613C>G, NC_000007.13:g.26721613C>T

Select item 21284718.

rs212847 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 7:26682391 (GRCh38)
7:26722010 (GRCh37)
Canonical SPDI:: NC_000007.14:26682390:G:A,NC_000007.14:26682390:G:T
Gene:: SKAP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.449086/30704 (ALFA)
G=0.110922/325 (KOREAN)
G=0.119541/219 (Korea1K)
G=0.148148/8 (Siberian)
G=0.154206/33 (Vietnamese)
G=0.16091/2697 (TOMMO)
G=0.237069/110 (SGDP_PRJ)
G=0.358482/1606 (Estonian)
G=0.361667/217 (NorthernSweden)
G=0.364203/759 (HGDP_Stanford)
A=0.37037/80 (Qatari)
G=0.40982/409 (GoNL)
G=0.416402/787 (HapMap)
A=0.418605/36 (PRJEB36033)
G=0.421455/2111 (1000Genomes)
G=0.425/17 (GENOME_DK)
G=0.440939/1635 (TWINSUK)
G=0.443538/90959 (GENOGRAPHIC)
G=0.456668/1760 (ALSPAC)
G=0.484184/67747 (GnomAD)
G=0.489403/129540 (TOPMED)
HGVS:: NC_000007.14:g.26682391G>A, NC_000007.14:g.26682391G>T, NC_000007.13:g.26722010G>A, NC_000007.13:g.26722010G>T

Select item 21284819.

rs212848 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 7:26682536 (GRCh38)
7:26722155 (GRCh37)
Canonical SPDI:: NC_000007.14:26682535:G:A,NC_000007.14:26682535:G:T
Gene:: SKAP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.262112/1991 (ALFA)
G=0.096468/1617 (TOMMO)
G=0.100683/295 (KOREAN)
G=0.108624/199 (Korea1K)
G=0.11215/24 (Vietnamese)
G=0.115242/62 (SGDP_PRJ)
G=0.125/7 (Siberian)
G=0.137414/688 (1000Genomes)
G=0.17519/46371 (TOPMED)
G=0.18125/812 (Estonian)
G=0.2/120 (NorthernSweden)
G=0.263363/1015 (ALSPAC)
G=0.265372/984 (TWINSUK)
G=0.3/12 (GENOME_DK)
G=0.324074/70 (Qatari)
HGVS:: NC_000007.14:g.26682536G>A, NC_000007.14:g.26682536G>T, NC_000007.13:g.26722155G>A, NC_000007.13:g.26722155G>T

Select item 21284920.

rs212849 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:26683024 (GRCh38)
7:26722643 (GRCh37)
Canonical SPDI:: NC_000007.14:26683023:A:G
Gene:: SKAP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.445103/8408 (ALFA)
A=0.110314/323 (KOREAN)
A=0.119541/219 (Korea1K)
A=0.148148/8 (Siberian)
A=0.158879/34 (Vietnamese)
A=0.160946/2697 (TOMMO)
A=0.238298/112 (SGDP_PRJ)
A=0.357812/1603 (Estonian)
A=0.361667/217 (NorthernSweden)
G=0.375/81 (Qatari)
A=0.402405/2015 (1000Genomes)
A=0.40982/409 (GoNL)
A=0.425/17 (GENOME_DK)
A=0.440399/1633 (TWINSUK)
A=0.456409/1759 (ALSPAC)
A=0.466297/65290 (GnomAD)
A=0.470807/124618 (TOPMED)
HGVS:: NC_000007.14:g.26683024A>G, NC_000007.13:g.26722643A>G

<< First< Prev

Page of 3747

Next >Last >>

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Search results

Items: 1 to 20 of 74931

Display Settings:

Send to:

Supplemental Content

Find related data

Search details

Recent activity