TFPI2 - SNP

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Select item 1119751011.

rs111975101 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 7:93890146 (GRCh38)
7:93519458 (GRCh37)
Canonical SPDI:: NC_000007.14:93890145:T:C,NC_000007.14:93890145:T:G
Gene:: TFPI2 (Varview), TFPI2-DT (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,2KB_upstream_variant,synonymous_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00047/21 (ALFA)
G=0.001615/21 (GoESP)
G=0.001704/451 (TOPMED)
G=0.001718/9 (1000Genomes)
G=0.001873/1 (MGP)
G=0.00463/1 (Qatari)
T=0.5/5 (SGDP_PRJ)
HGVS:: NC_000007.14:g.93890146T>C, NC_000007.14:g.93890146T>G, NC_000007.13:g.93519458T>C, NC_000007.13:g.93519458T>G, NG_032914.1:g.5846A>G, NG_032914.1:g.5846A>C, NM_006528.4:c.262A>G, NM_006528.4:c.262A>C, NM_006528.3:c.262A>G, NM_006528.3:c.262A>C, NM_001271003.2:c.229A>G, NM_001271003.2:c.229A>C, NM_001271003.1:c.229A>G, NM_001271003.1:c.229A>C, NM_001271004.2:c.262A>G, NM_001271004.2:c.262A>C, NM_001271004.1:c.262A>G, NM_001271004.1:c.262A>C, NP_006519.1:p.Arg88Gly, NP_001257932.1:p.Arg77Gly, NP_001257933.1:p.Arg88Gly

Select item 1135383432.

rs113538343 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:93889100 (GRCh38)
7:93518412 (GRCh37)
Canonical SPDI:: NC_000007.14:93889099:C:T
Gene:: TFPI2 (Varview), TFPI2-DT (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000181/36 (ALFA)
T=0.000381/95 (GnomAD_exomes)
T=0.000495/60 (ExAC)
T=0.001655/232 (GnomAD)
T=0.001692/22 (GoESP)
T=0.001873/1 (MGP)
T=0.001931/511 (TOPMED)
T=0.00203/10 (1000Genomes)
T=0.002656/209 (PAGE_STUDY)
T=0.00463/1 (Qatari)
C=0.5/5 (SGDP_PRJ)
HGVS:: NC_000007.14:g.93889100C>T, NC_000007.13:g.93518412C>T, NG_032914.1:g.6892G>A, NM_006528.4:c.395G>A, NM_006528.3:c.395G>A, NM_001271003.2:c.362G>A, NM_001271003.1:c.362G>A, NM_001271004.2:c.395G>A, NM_001271004.1:c.395G>A, NP_006519.1:p.Arg132Gln, NP_001257932.1:p.Arg121Gln, NP_001257933.1:p.Arg132Gln

Select item 1136766413.

rs113676641 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 7:93890129 (GRCh38)
7:93519441 (GRCh37)
Canonical SPDI:: NC_000007.14:93890128:G:A,NC_000007.14:93890128:G:C
Gene:: TFPI2 (Varview), TFPI2-DT (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000225/10 (ALFA)
A=0.00036/87 (GnomAD_exomes)
A=0.000494/55 (ExAC)
A=0.001525/214 (GnomAD)
A=0.001615/21 (GoESP)
A=0.001718/9 (1000Genomes)
A=0.001873/1 (MGP)
A=0.00463/1 (Qatari)
G=0.5/5 (SGDP_PRJ)
HGVS:: NC_000007.14:g.93890129G>A, NC_000007.14:g.93890129G>C, NC_000007.13:g.93519441G>A, NC_000007.13:g.93519441G>C, NG_032914.1:g.5863C>T, NG_032914.1:g.5863C>G

Select item 1433670244.

rs143367024 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:93886846 (GRCh38)
7:93516158 (GRCh37)
Canonical SPDI:: NC_000007.14:93886845:G:A
Gene:: TFPI2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,missense_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00069/83 (ALFA)
A=0.000342/1 (KOREAN)
A=0.000546/1 (Korea1K)
A=0.001093/211 (GnomAD_exomes)
A=0.001405/169 (ExAC)
A=0.003769/49 (GoESP)
A=0.004528/23 (1000Genomes)
A=0.004675/655 (GnomAD)
A=0.004806/1272 (TOPMED)
A=0.007192/566 (PAGE_STUDY)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000007.14:g.93886846G>A, NC_000007.13:g.93516158G>A, NG_032914.1:g.9146C>T, NM_006528.4:c.682C>T, NM_006528.3:c.682C>T, NM_001271003.2:c.649C>T, NM_001271003.1:c.649C>T, NM_001271004.2:c.*45C>T, NM_001271004.1:c.*45C>T, NP_006519.1:p.Arg228Trp, NP_001257932.1:p.Arg217Trp

Select item 42645.

rs4264 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 7:93886765 (GRCh38)
7:93516077 (GRCh37)
Canonical SPDI:: NC_000007.14:93886764:C:A,NC_000007.14:93886764:C:T
Gene:: TFPI2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.028012/3939 (ALFA)
T=0.016741/75 (Estonian)
T=0.02004/20 (GoNL)
T=0.02809/15 (MGP)
T=0.031667/19 (NorthernSweden)
T=0.047744/218 (GoESP)
T=0.056738/64 (Daghestan)
T=0.064815/14 (Qatari)
T=0.068559/18147 (TOPMED)
T=0.101655/509 (1000Genomes)
T=0.103175/182 (HapMap)
T=0.149533/32 (Vietnamese)
T=0.188737/553 (KOREAN)
T=0.217/3636 (TOMMO)
C=0.25/2 (Siberian)
C=0.385714/54 (SGDP_PRJ)
HGVS:: NC_000007.14:g.93886765C>A, NC_000007.14:g.93886765C>T, NC_000007.13:g.93516077C>A, NC_000007.13:g.93516077C>T, NG_032914.1:g.9227G>T, NG_032914.1:g.9227G>A, NM_006528.4:c.*55G>T, NM_006528.4:c.*55G>A, NM_006528.3:c.*55G>T, NM_006528.3:c.*55G>A, NM_001271003.2:c.*55G>T, NM_001271003.2:c.*55G>A, NM_001271003.1:c.*55G>T, NM_001271003.1:c.*55G>A, NM_001271004.2:c.*126G>T, NM_001271004.2:c.*126G>A, NM_001271004.1:c.*126G>T, NM_001271004.1:c.*126G>A

PubMed LitVar

Select item 42716.

rs4271 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 7:93885943 (GRCh38)
7:93515255 (GRCh37)
Canonical SPDI:: NC_000007.14:93885942:T:A
Gene:: TFPI2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.039121/739 (ALFA)
A=0.015372/57 (TWINSUK)
A=0.016741/75 (Estonian)
A=0.02004/20 (GoNL)
A=0.020758/80 (ALSPAC)
A=0.031667/19 (NorthernSweden)
A=0.060312/8450 (GnomAD)
A=0.064815/14 (Qatari)
A=0.068548/18144 (TOPMED)
A=0.095679/31 (HapMap)
A=0.101655/509 (1000Genomes)
A=0.148148/32 (Vietnamese)
A=0.189078/554 (KOREAN)
A=0.217036/3637 (TOMMO)
T=0.25/2 (Siberian)
T=0.385714/54 (SGDP_PRJ)
HGVS:: NC_000007.14:g.93885943T>A, NC_000007.13:g.93515255T>A, NG_032914.1:g.10049A>T, NM_006528.4:c.*877A>T, NM_006528.3:c.*877A>T, NM_001271003.2:c.*877A>T, NM_001271003.1:c.*877A>T, NM_001271004.2:c.*948A>T, NM_001271004.1:c.*948A>T

PubMed LitVar

Select item 45177.

rs4517 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 7:93886681 (GRCh38)
7:93515993 (GRCh37)
Canonical SPDI:: NC_000007.14:93886680:T:A,NC_000007.14:93886680:T:G
Gene:: TFPI2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.202818/8004 (ALFA)
G=0./0 (HapMap)
G=0.106742/57 (MGP)
G=0.240831/893 (TWINSUK)
G=0.243487/243 (GoNL)
G=0.244162/941 (ALSPAC)
G=0.24537/53 (Qatari)
G=0.247138/34581 (GnomAD)
G=0.25/150 (NorthernSweden)
G=0.259296/68633 (TOPMED)
G=0.264732/1186 (Estonian)
G=0.275/11 (GENOME_DK)
T=0.333333/10 (Siberian)
G=0.339631/1701 (1000Genomes)
T=0.34104/118 (SGDP_PRJ)
T=0.363208/77 (Vietnamese)
T=0.419214/768 (Korea1K)
T=0.427645/1253 (KOREAN)
T=0.427914/7171 (TOMMO)
T=0.431122/338 (PRJEB37584)
HGVS:: NC_000007.14:g.93886681T>A, NC_000007.14:g.93886681T>G, NC_000007.13:g.93515993T>A, NC_000007.13:g.93515993T>G, NG_032914.1:g.9311A>T, NG_032914.1:g.9311A>C, NM_006528.4:c.*139A>T, NM_006528.4:c.*139A>C, NM_006528.3:c.*139A>T, NM_006528.3:c.*139A>C, NM_001271003.2:c.*139A>T, NM_001271003.2:c.*139A>C, NM_001271003.1:c.*139A>T, NM_001271003.1:c.*139A>C, NM_001271004.2:c.*210A>T, NM_001271004.2:c.*210A>C, NM_001271004.1:c.*210A>T, NM_001271004.1:c.*210A>C

PubMed LitVar

Select item 132588.

rs13258 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:93886045 (GRCh38)
7:93515357 (GRCh37)
Canonical SPDI:: NC_000007.14:93886044:G:A
Gene:: TFPI2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.93886045G>A, NC_000007.13:g.93515357G>A, NG_032914.1:g.9947C>T, NM_006528.4:c.*775C>T, NM_006528.3:c.*775C>T, NM_001271003.2:c.*775C>T, NM_001271003.1:c.*775C>T, NM_001271004.2:c.*846C>T, NM_001271004.1:c.*846C>T

Select item 10243889.

rs1024388 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 7:93887780 (GRCh38)
7:93517092 (GRCh37)
Canonical SPDI:: NC_000007.14:93887779:G:A,NC_000007.14:93887779:G:C,NC_000007.14:93887779:G:T
Gene:: TFPI2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.03801/718 (ALFA)
T=0./0 (KOREAN)
C=0.015372/57 (TWINSUK)
C=0.016741/75 (Estonian)
C=0.02004/20 (GoNL)
C=0.020758/80 (ALSPAC)
C=0.031667/19 (NorthernSweden)
C=0.058575/8206 (GnomAD)
C=0.060185/13 (Qatari)
C=0.066376/17569 (TOPMED)
C=0.092025/30 (HapMap)
C=0.099625/499 (1000Genomes)
C=0.152778/33 (Vietnamese)
G=0.25/2 (Siberian)
G=0.392308/51 (SGDP_PRJ)
HGVS:: NC_000007.14:g.93887780G>A, NC_000007.14:g.93887780G>C, NC_000007.14:g.93887780G>T, NC_000007.13:g.93517092G>A, NC_000007.13:g.93517092G>C, NC_000007.13:g.93517092G>T, NG_032914.1:g.8212C>T, NG_032914.1:g.8212C>G, NG_032914.1:g.8212C>A

Select item 102438910.

rs1024389 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:93887750 (GRCh38)
7:93517062 (GRCh37)
Canonical SPDI:: NC_000007.14:93887749:G:A
Gene:: TFPI2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.047275/1133 (ALFA)
A=0.015372/57 (TWINSUK)
A=0.016741/75 (Estonian)
A=0.02004/20 (GoNL)
A=0.020758/80 (ALSPAC)
A=0.031667/19 (NorthernSweden)
A=0.058651/8222 (GnomAD)
A=0.060185/13 (Qatari)
A=0.066602/17629 (TOPMED)
A=0.091966/174 (HapMap)
A=0.099625/499 (1000Genomes)
A=0.105431/66 (Chileans)
A=0.148148/32 (Vietnamese)
A=0.188396/552 (KOREAN)
A=0.217/3636 (TOMMO)
G=0.25/2 (Siberian)
G=0.386364/51 (SGDP_PRJ)
HGVS:: NC_000007.14:g.93887750G>A, NC_000007.13:g.93517062G>A, NG_032914.1:g.8242C>T

Select item 102439011.

rs1024390 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:93887129 (GRCh38)
7:93516441 (GRCh37)
Canonical SPDI:: NC_000007.14:93887128:C:T
Gene:: TFPI2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.03332/842 (ALFA)
T=0.015372/57 (TWINSUK)
T=0.016741/75 (Estonian)
T=0.02004/20 (GoNL)
T=0.020758/80 (ALSPAC)
T=0.031667/19 (NorthernSweden)
T=0.058713/8224 (GnomAD)
T=0.060185/13 (Qatari)
T=0.066693/17653 (TOPMED)
T=0.097561/32 (HapMap)
T=0.100406/503 (1000Genomes)
T=0.150943/32 (Vietnamese)
T=0.188737/553 (KOREAN)
T=0.217/3636 (TOMMO)
C=0.25/2 (Siberian)
C=0.386364/51 (SGDP_PRJ)
HGVS:: NC_000007.14:g.93887129C>T, NC_000007.13:g.93516441C>T, NG_032914.1:g.8863G>A

Select item 180420212.

rs1804202 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:93889190 (GRCh38)
7:93518502 (GRCh37)
Canonical SPDI:: NC_000007.14:93889189:A:G
Gene:: TFPI2 (Varview), TFPI2-DT (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_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_000007.14:g.93889190A>G, NC_000007.13:g.93518502A>G, NG_032914.1:g.6802T>C, NM_006528.4:c.305T>C, NM_006528.3:c.305T>C, NM_001271003.2:c.272T>C, NM_001271003.1:c.272T>C, NM_001271004.2:c.305T>C, NM_001271004.1:c.305T>C, NP_006519.1:p.Val102Ala, NP_001257932.1:p.Val91Ala, NP_001257933.1:p.Val102Ala

Select item 251965013.

rs2519650 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:93892227 (GRCh38)
7:93521539 (GRCh37)
Canonical SPDI:: NC_000007.14:93892226:A:G
Gene:: TFPI2 (Varview), TFPI2-DT (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.100852/2463 (ALFA)
G=0.000071/1 (TOMMO)
G=0.000546/1 (Korea1K)
G=0.025/1 (GENOME_DK)
G=0.029982/34 (Daghestan)
G=0.03006/30 (GoNL)
G=0.031553/117 (TWINSUK)
G=0.033212/128 (ALSPAC)
G=0.035144/22 (Chileans)
G=0.036161/162 (Estonian)
G=0.043333/26 (NorthernSweden)
G=0.115166/16138 (GnomAD)
G=0.117284/31044 (TOPMED)
G=0.121955/611 (1000Genomes)
G=0.134259/29 (Qatari)
G=0.192555/300 (HapMap)
A=0.375/21 (SGDP_PRJ)
HGVS:: NC_000007.14:g.93892227A>G, NC_000007.13:g.93521539A>G, NG_032914.1:g.3765T>C

Select item 588585114.

rs5885851 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT,TTTTT [Show Flanks]
Chromosome:: 7:93889379 (GRCh38)
7:93518691 (GRCh37)
Canonical SPDI:: NC_000007.14:93889378:TTTTTTTTTTT:TTTTTTTTTT,NC_000007.14:93889378:TTTTTTTTTTT:TTTTTTTTTTTT,NC_000007.14:93889378:TTTTTTTTTTT:TTTTTTTTTTTTTTT
Gene:: TFPI2 (Varview), TFPI2-DT (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0.007299/127 (ALFA)
-=0.031667/19 (NorthernSweden)
-=0.066976/17728 (TOPMED)
-=0.100094/501 (1000Genomes)
HGVS:: NC_000007.14:g.93889389del, NC_000007.14:g.93889389dup, NC_000007.14:g.93889386_93889389dup, NC_000007.13:g.93518701del, NC_000007.13:g.93518701dup, NC_000007.13:g.93518698_93518701dup, NG_032914.1:g.6613del, NG_032914.1:g.6613dup, NG_032914.1:g.6610_6613dup

Select item 1023471315.

rs10234713 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 7:93890759 (GRCh38)
7:93520071 (GRCh37)
Canonical SPDI:: NC_000007.14:93890758:A:G,NC_000007.14:93890758:A:T
Gene:: TFPI2 (Varview), TFPI2-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.058414/2407 (ALFA)
G=0.011678/196 (TOMMO)
G=0.018089/53 (KOREAN)
G=0.023464/42 (Korea1K)
G=0.05/30 (NorthernSweden)
G=0.051887/11 (Vietnamese)
G=0.05414/17 (HapMap)
G=0.064815/14 (Qatari)
G=0.066741/299 (Estonian)
G=0.068231/253 (TWINSUK)
G=0.072652/280 (ALSPAC)
G=0.075/3 (GENOME_DK)
G=0.09519/95 (GoNL)
G=0.105208/14748 (GnomAD)
G=0.114772/575 (1000Genomes)
A=0.455556/41 (SGDP_PRJ)
A=0.5/5 (Siberian)
HGVS:: NC_000007.14:g.93890759A>G, NC_000007.14:g.93890759A>T, NC_000007.13:g.93520071A>G, NC_000007.13:g.93520071A>T, NG_032914.1:g.5233T>C, NG_032914.1:g.5233T>A, NM_006528.3:c.-81T>C, NM_006528.3:c.-81T>A, NM_001271003.1:c.-81T>C, NM_001271003.1:c.-81T>A, NM_001271004.1:c.-81T>C, NM_001271004.1:c.-81T>A

Select item 1026933216.

rs10269332 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:93892269 (GRCh38)
7:93521581 (GRCh37)
Canonical SPDI:: NC_000007.14:93892268:G:C
Gene:: TFPI2 (Varview), TFPI2-DT (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.003398/49 (ALFA)
C=0./0 (TWINSUK)
C=0.000259/1 (ALSPAC)
C=0.004997/25 (1000Genomes)
C=0.005316/745 (GnomAD)
C=0.00555/1469 (TOPMED)
C=0.006098/2 (HapMap)
G=0.5/2 (SGDP_PRJ)
HGVS:: NC_000007.14:g.93892269G>C, NC_000007.13:g.93521581G>C, NG_032914.1:g.3723C>G

Select item 1266945017.

rs12669450 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:93886836 (GRCh38)
7:93516148 (GRCh37)
Canonical SPDI:: NC_000007.14:93886835:C:T
Gene:: TFPI2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000578/91 (ALFA)
T=0.000371/52 (GnomAD)
T=0.000552/146 (TOPMED)
T=0.001001/196 (GnomAD_exomes)
T=0.001004/79 (PAGE_STUDY)
T=0.001088/131 (ExAC)
T=0.002342/12 (1000Genomes)
T=0.006228/104 (TOMMO)
T=0.006829/9 (HapMap)
T=0.010371/19 (Korea1K)
T=0.013005/38 (KOREAN)
T=0.013959/11 (PRJEB37584)
T=0.034091/21 (Vietnamese)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000007.14:g.93886836C>T, NC_000007.13:g.93516148C>T, NG_032914.1:g.9156G>A, NM_006528.4:c.692G>A, NM_006528.3:c.692G>A, NM_001271003.2:c.659G>A, NM_001271003.1:c.659G>A, NM_001271004.2:c.*55G>A, NM_001271004.1:c.*55G>A, NP_006519.1:p.Arg231Gln, NP_001257932.1:p.Arg220Gln

Select item 1716583918.

rs17165839 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:93891031 (GRCh38)
7:93520343 (GRCh37)
Canonical SPDI:: NC_000007.14:93891030:T:C
Gene:: TFPI2 (Varview), TFPI2-DT (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.040104/849 (ALFA)
C=0.015102/56 (TWINSUK)
C=0.016071/72 (Estonian)
C=0.02004/20 (GoNL)
C=0.020239/78 (ALSPAC)
C=0.031667/19 (NorthernSweden)
C=0.053451/7495 (GnomAD)
C=0.060185/13 (Qatari)
C=0.061347/16238 (TOPMED)
C=0.086957/164 (HapMap)
C=0.095565/479 (1000Genomes)
C=0.13099/82 (Chileans)
C=0.162037/35 (Vietnamese)
C=0.198635/582 (KOREAN)
C=0.20524/376 (Korea1K)
C=0.218841/3667 (TOMMO)
T=0.25/2 (Siberian)
T=0.390625/50 (SGDP_PRJ)
HGVS:: NC_000007.14:g.93891031T>C, NC_000007.13:g.93520343T>C, NG_032914.1:g.4961A>G, NR_134235.1:n.138T>C

LitVar

Select item 3403704219.

rs34037042 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 7:93885360 (GRCh38)
7:93514673 (GRCh37)
Canonical SPDI:: NC_000007.14:93885360:TTT:TTTT
Gene:: TFPI2 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
HGVS:: NC_000007.14:g.93885363dup, NC_000007.13:g.93514675dup, NG_032914.1:g.10631dup

Select item 3448912320.

rs34489123 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 7:93889174 (GRCh38)
7:93518486 (GRCh37)
Canonical SPDI:: NC_000007.14:93889173:C:A,NC_000007.14:93889173:C:T
Gene:: TFPI2 (Varview), TFPI2-DT (Varview)
Functional Consequence:: synonymous_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.021698/1309 (ALFA)
T=0.015642/58 (TWINSUK)
T=0.017188/77 (Estonian)
T=0.02004/20 (GoNL)
T=0.020239/78 (ALSPAC)
T=0.02809/15 (MGP)
T=0.031667/19 (NorthernSweden)
T=0.042763/13 (FINRISK)
T=0.049054/638 (GoESP)
T=0.056614/6812 (ExAC)
T=0.058202/14366 (GnomAD_exomes)
T=0.058519/8201 (GnomAD)
T=0.060185/13 (Qatari)
T=0.0625/2 (PRJEB36033)
T=0.100562/504 (1000Genomes)
T=0.178571/110 (Vietnamese)
T=0.200683/588 (KOREAN)
T=0.220858/3701 (TOMMO)
C=0.25/2 (Siberian)
C=0.380597/51 (SGDP_PRJ)
HGVS:: NC_000007.14:g.93889174C>A, NC_000007.14:g.93889174C>T, NC_000007.13:g.93518486C>A, NC_000007.13:g.93518486C>T, NG_032914.1:g.6818G>T, NG_032914.1:g.6818G>A, NM_006528.4:c.321G>T, NM_006528.4:c.321G>A, NM_006528.3:c.321G>T, NM_006528.3:c.321G>A, NM_001271003.2:c.288G>T, NM_001271003.2:c.288G>A, NM_001271003.1:c.288G>T, NM_001271003.1:c.288G>A, NM_001271004.2:c.321G>T, NM_001271004.2:c.321G>A, NM_001271004.1:c.321G>T, NM_001271004.1:c.321G>A, NP_006519.1:p.Glu107Asp, NP_001257932.1:p.Glu96Asp, NP_001257933.1:p.Glu107Asp

PubMed LitVar

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