(LOC389199[gene]) Homo sapiens[organism] - SNP

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Select item 42352661.

rs4235266 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 4:7937550 (GRCh38)
4:7939277 (GRCh37)
Canonical SPDI:: NC_000004.12:7937549:T:A,NC_000004.12:7937549:T:C,NC_000004.12:7937549:T:G
Gene:: AFAP1 (Varview), LOC389199 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.210435/3864 (ALFA)
G=0./0 (KOREAN)
C=0.125/5 (GENOME_DK)
C=0.156149/579 (TWINSUK)
C=0.156461/603 (ALSPAC)
C=0.168337/168 (GoNL)
C=0.191667/115 (NorthernSweden)
C=0.21183/949 (Estonian)
T=0.225983/414 (Korea1K)
C=0.226852/49 (Qatari)
T=0.228643/3832 (TOMMO)
C=0.267403/37454 (GnomAD)
C=0.286845/75925 (TOPMED)
T=0.318182/14 (Siberian)
T=0.333333/72 (Vietnamese)
T=0.344633/122 (SGDP_PRJ)
C=0.412555/2066 (1000Genomes)
HGVS:: NC_000004.12:g.7937550T>A, NC_000004.12:g.7937550T>C, NC_000004.12:g.7937550T>G, NC_000004.11:g.7939277T>A, NC_000004.11:g.7939277T>C, NC_000004.11:g.7939277T>G

Select item 45556152.

rs4555615 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 4:7937851 (GRCh38)
4:7939578 (GRCh37)
Canonical SPDI:: NC_000004.12:7937850:G:A,NC_000004.12:7937850:G:T
Gene:: AFAP1 (Varview), LOC389199 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.218158/4121 (ALFA)
A=0.125/5 (GENOME_DK)
A=0.1548/574 (TWINSUK)
A=0.156461/603 (ALSPAC)
A=0.168337/168 (GoNL)
A=0.191667/115 (NorthernSweden)
A=0.21183/949 (Estonian)
G=0.212969/624 (KOREAN)
G=0.225983/414 (Korea1K)
A=0.226852/49 (Qatari)
G=0.22836/3827 (TOMMO)
A=0.262707/36780 (GnomAD)
A=0.281541/74521 (TOPMED)
G=0.318182/14 (Siberian)
G=0.32381/68 (Vietnamese)
G=0.344633/122 (SGDP_PRJ)
A=0.408339/2045 (1000Genomes)
HGVS:: NC_000004.12:g.7937851G>A, NC_000004.12:g.7937851G>T, NC_000004.11:g.7939578G>A, NC_000004.11:g.7939578G>T

Select item 46966853.

rs4696685 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 4:7937298 (GRCh38)
4:7939025 (GRCh37)
Canonical SPDI:: NC_000004.12:7937297:T:A,NC_000004.12:7937297:T:C,NC_000004.12:7937297:T:G
Gene:: AFAP1 (Varview), LOC389199 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.209377/3845 (ALFA)
G=0./0 (KOREAN)
C=0.125/5 (GENOME_DK)
C=0.154261/572 (TWINSUK)
C=0.156201/602 (ALSPAC)
C=0.167335/167 (GoNL)
C=0.191667/115 (NorthernSweden)
C=0.209152/937 (Estonian)
T=0.225983/414 (Korea1K)
C=0.226852/49 (Qatari)
T=0.228643/3832 (TOMMO)
C=0.266415/37142 (GnomAD)
C=0.286048/75714 (TOPMED)
T=0.318182/14 (Siberian)
T=0.344633/122 (SGDP_PRJ)
C=0.410525/2056 (1000Genomes)
HGVS:: NC_000004.12:g.7937298T>A, NC_000004.12:g.7937298T>C, NC_000004.12:g.7937298T>G, NC_000004.11:g.7939025T>A, NC_000004.11:g.7939025T>C, NC_000004.11:g.7939025T>G

Select item 46966864.

rs4696686 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:7937310 (GRCh38)
4:7939037 (GRCh37)
Canonical SPDI:: NC_000004.12:7937309:C:T
Gene:: AFAP1 (Varview), LOC389199 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.219428/4145 (ALFA)
T=0.125/5 (GENOME_DK)
T=0.153452/569 (TWINSUK)
T=0.155682/600 (ALSPAC)
T=0.167335/167 (GoNL)
T=0.19/114 (NorthernSweden)
T=0.208929/936 (Estonian)
C=0.215017/630 (KOREAN)
C=0.225983/414 (Korea1K)
T=0.226852/49 (Qatari)
C=0.228679/3833 (TOMMO)
T=0.263921/36911 (GnomAD)
T=0.285991/75699 (TOPMED)
C=0.318182/14 (Siberian)
C=0.344633/122 (SGDP_PRJ)
T=0.410369/2055 (1000Genomes)
HGVS:: NC_000004.12:g.7937310C>T, NC_000004.11:g.7939037C>T

Select item 46966875.

rs4696687 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:7937467 (GRCh38)
4:7939194 (GRCh37)
Canonical SPDI:: NC_000004.12:7937466:C:T
Gene:: AFAP1 (Varview), LOC389199 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.187473/36012 (ALFA)
T=0.116279/10 (PRJEB36033)
T=0.125/5 (GENOME_DK)
T=0.147379/568 (ALSPAC)
T=0.148867/552 (TWINSUK)
T=0.159319/159 (GoNL)
T=0.176667/106 (NorthernSweden)
T=0.199107/892 (Estonian)
C=0.215164/630 (KOREAN)
T=0.222222/48 (Qatari)
C=0.222785/176 (PRJEB37584)
C=0.225983/414 (Korea1K)
C=0.228679/3833 (TOMMO)
T=0.261461/36614 (GnomAD)
T=0.28275/74841 (TOPMED)
T=0.296429/332 (Daghestan)
C=0.314815/68 (Vietnamese)
C=0.318182/14 (Siberian)
C=0.346591/122 (SGDP_PRJ)
T=0.401327/31521 (PAGE_STUDY)
T=0.409744/2052 (1000Genomes)
T=0.417285/787 (HapMap)
T=0.422745/881 (HGDP_Stanford)
HGVS:: NC_000004.12:g.7937467C>T, NC_000004.11:g.7939194C>T

Select item 46966886.

rs4696688 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 4:7938188 (GRCh38)
4:7939915 (GRCh37)
Canonical SPDI:: NC_000004.12:7938187:G:A,NC_000004.12:7938187:G:C
Gene:: AFAP1 (Varview), LOC389199 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.089883/1402 (ALFA)
C=0.074074/16 (Qatari)
C=0.075/3 (GENOME_DK)
C=0.075512/280 (TWINSUK)
C=0.07836/302 (ALSPAC)
C=0.083166/83 (GoNL)
C=0.088333/53 (NorthernSweden)
C=0.093509/412 (Estonian)
C=0.103178/14421 (GnomAD)
C=0.116755/30904 (TOPMED)
C=0.187851/941 (1000Genomes)
C=0.201863/65 (HapMap)
G=0.428571/12 (Siberian)
G=0.431193/94 (SGDP_PRJ)
C=0.439815/95 (Vietnamese)
G=0.469466/369 (PRJEB37584)
G=0.469625/1376 (KOREAN)
G=0.475264/7965 (TOMMO)
HGVS:: NC_000004.12:g.7938188G>A, NC_000004.12:g.7938188G>C, NC_000004.11:g.7939915G>A, NC_000004.11:g.7939915G>C

Select item 46968247.

rs4696824 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:7937315 (GRCh38)
4:7939042 (GRCh37)
Canonical SPDI:: NC_000004.12:7937314:T:C
Gene:: AFAP1 (Varview), LOC389199 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.223603/4371 (ALFA)
C=0.125/5 (GENOME_DK)
C=0.153722/570 (TWINSUK)
C=0.155682/600 (ALSPAC)
C=0.167335/167 (GoNL)
C=0.19/114 (NorthernSweden)
C=0.208929/936 (Estonian)
T=0.214334/628 (KOREAN)
T=0.225983/414 (Korea1K)
C=0.226852/49 (Qatari)
T=0.228714/3833 (TOMMO)
C=0.26404/36927 (GnomAD)
C=0.286142/75739 (TOPMED)
T=0.318182/14 (Siberian)
T=0.344633/122 (SGDP_PRJ)
C=0.40333/31734 (PAGE_STUDY)
C=0.410525/2056 (1000Genomes)
HGVS:: NC_000004.12:g.7937315T>C, NC_000004.11:g.7939042T>C

Select item 64478718.

rs6447871 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 4:7940529 (GRCh38)
4:7942256 (GRCh37)
Canonical SPDI:: NC_000004.12:7940528:A:G,NC_000004.12:7940528:A:T
Gene:: AFAP1 (Varview), LOC389199 (Varview)
Functional Consequence:: 2KB_upstream_variant,downstream_transcript_variant,500B_downstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.118211/2233 (ALFA)
A=0.084249/46 (SGDP_PRJ)
A=0.087963/19 (Qatari)
A=0.088538/443 (1000Genomes)
A=0.091537/24229 (TOPMED)
A=0.100398/14063 (GnomAD)
A=0.125/5 (GENOME_DK)
A=0.13233/510 (ALSPAC)
A=0.133267/133 (GoNL)
A=0.143003/419 (KOREAN)
A=0.14442/647 (Estonian)
A=0.149563/274 (Korea1K)
A=0.156958/582 (TWINSUK)
A=0.160592/2692 (TOMMO)
A=0.18/9 (Siberian)
A=0.201667/121 (NorthernSweden)
HGVS:: NC_000004.12:g.7940529A>G, NC_000004.12:g.7940529A>T, NC_000004.11:g.7942256A>G, NC_000004.11:g.7942256A>T

Select item 68197769.

rs6819776 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 4:7938113 (GRCh38)
4:7939840 (GRCh37)
Canonical SPDI:: NC_000004.12:7938112:C:A,NC_000004.12:7938112:C:G
Gene:: AFAP1 (Varview), LOC389199 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.115352/2179 (ALFA)
C=0.078755/43 (SGDP_PRJ)
C=0.089856/23784 (TOPMED)
C=0.090256/452 (1000Genomes)
C=0.092593/20 (Qatari)
C=0.097594/13676 (GnomAD)
C=0.125/5 (GENOME_DK)
C=0.132265/132 (GoNL)
C=0.13233/510 (ALSPAC)
C=0.139509/625 (Estonian)
C=0.143686/421 (KOREAN)
C=0.150943/32 (Vietnamese)
C=0.151747/278 (Korea1K)
C=0.153452/569 (TWINSUK)
C=0.162255/2719 (TOMMO)
C=0.173077/9 (Siberian)
C=0.191667/115 (NorthernSweden)
HGVS:: NC_000004.12:g.7938113C>A, NC_000004.12:g.7938113C>G, NC_000004.11:g.7939840C>A, NC_000004.11:g.7939840C>G

Select item 683406010.

rs6834060 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 4:7940418 (GRCh38)
4:7942145 (GRCh37)
Canonical SPDI:: NC_000004.12:7940417:C:G
Gene:: AFAP1 (Varview), LOC389199 (Varview)
Functional Consequence:: 2KB_upstream_variant,downstream_transcript_variant,500B_downstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.011165/161 (ALFA)
G=0./0 (TWINSUK)
G=0.000071/2 (TOMMO)
G=0.000778/3 (ALSPAC)
G=0.009259/2 (Qatari)
G=0.011087/56 (1000Genomes)
G=0.014829/2078 (GnomAD)
G=0.015864/4199 (TOPMED)
C=0.5/4 (SGDP_PRJ)
HGVS:: NC_000004.12:g.7940418C>G, NC_000004.11:g.7942145C>G

Select item 684675711.

rs6846757 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:7938243 (GRCh38)
4:7939970 (GRCh37)
Canonical SPDI:: NC_000004.12:7938242:A:G
Gene:: AFAP1 (Varview), LOC389199 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.359897/12302 (ALFA)
G=0.05131/94 (Korea1K)
G=0.05256/154 (KOREAN)
G=0.059169/992 (TOMMO)
G=0.088785/19 (Vietnamese)
G=0.268304/1202 (Estonian)
G=0.276667/166 (NorthernSweden)
G=0.314815/68 (Qatari)
G=0.320641/320 (GoNL)
G=0.336793/1298 (ALSPAC)
G=0.341661/1711 (1000Genomes)
G=0.347357/1288 (TWINSUK)
G=0.352972/665 (HapMap)
A=0.375/108 (SGDP_PRJ)
G=0.377342/52797 (GnomAD)
G=0.384382/101742 (TOPMED)
G=0.4/16 (GENOME_DK)
A=0.5/4 (Siberian)
HGVS:: NC_000004.12:g.7938243A>G, NC_000004.11:g.7939970A>G

Select item 684777112.

rs6847771 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:7938712 (GRCh38)
4:7940439 (GRCh37)
Canonical SPDI:: NC_000004.12:7938711:A:G
Gene:: AFAP1 (Varview), LOC389199 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.01061/153 (ALFA)
G=0./0 (TWINSUK)
G=0.000778/3 (ALSPAC)
G=0.009259/2 (Qatari)
G=0.011711/59 (1000Genomes)
G=0.014363/2013 (GnomAD)
G=0.015324/4056 (TOPMED)
A=0.5/3 (SGDP_PRJ)
HGVS:: NC_000004.12:g.7938712A>G, NC_000004.11:g.7940439A>G, XM_006713909.4:c.-60T>C, XM_006713909.3:c.-60T>C, XM_006713909.2:c.-60T>C

Select item 765522613.

rs7655226 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 4:7940174 (GRCh38)
4:7941901 (GRCh37)
Canonical SPDI:: NC_000004.12:7940173:A:C,NC_000004.12:7940173:A:T
Gene:: AFAP1 (Varview), LOC389199 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.147811/3005 (ALFA)
A=0.095588/52 (SGDP_PRJ)
A=0.101852/22 (Qatari)
A=0.116958/586 (1000Genomes)
A=0.12192/32271 (TOPMED)
A=0.125/5 (GENOME_DK)
A=0.131033/505 (ALSPAC)
A=0.139509/625 (Estonian)
A=0.14276/418 (KOREAN)
A=0.149563/274 (Korea1K)
A=0.152373/565 (TWINSUK)
A=0.160875/2696 (TOMMO)
A=0.173077/9 (Siberian)
A=0.193333/116 (NorthernSweden)
HGVS:: NC_000004.12:g.7940174A>C, NC_000004.12:g.7940174A>T, NC_000004.11:g.7941901A>C, NC_000004.11:g.7941901A>T, NM_203423.2:c.*193A>C, NM_203423.2:c.*193A>T, NR_172651.1:n.1174A>C, NR_172651.1:n.1174A>T, NM_203423.1:c.*193C>A, NM_203423.1:c.*193C>T

Select item 766943314.

rs7669433 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 4:7939014 (GRCh38)
4:7940741 (GRCh37)
Canonical SPDI:: NC_000004.12:7939013:C:A,NC_000004.12:7939013:C:G,NC_000004.12:7939013:C:T
Gene:: AFAP1 (Varview), LOC389199 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.055937/163 (KOREAN)
A=0.056998/101 (Korea1K)
A=0.059594/999 (TOMMO)
A=0.108491/23 (Vietnamese)
A=0.253918/1134 (Estonian)
A=0.266667/160 (NorthernSweden)
A=0.300926/65 (Qatari)
A=0.32589/1632 (1000Genomes)
A=0.329268/1269 (ALSPAC)
A=0.340615/1263 (TWINSUK)
A=0.35/14 (GENOME_DK)
A=0.366557/97024 (TOPMED)
C=0.379433/107 (SGDP_PRJ)
C=0.5/4 (Siberian)
HGVS:: NC_000004.12:g.7939014C>A, NC_000004.12:g.7939014C>G, NC_000004.12:g.7939014C>T, NC_000004.11:g.7940741C>A, NC_000004.11:g.7940741C>G, NC_000004.11:g.7940741C>T, NM_203423.2:c.-152C>A, NM_203423.2:c.-152C>G, NM_203423.2:c.-152C>T, NR_172651.1:n.14C>A, NR_172651.1:n.14C>G, NR_172651.1:n.14C>T, NM_203423.1:c.-152C>A, NM_203423.1:c.-152C>G, NM_203423.1:c.-152C>T

Select item 766964515.

rs7669645 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:7939188 (GRCh38)
4:7940915 (GRCh37)
Canonical SPDI:: NC_000004.12:7939187:C:T
Gene:: AFAP1 (Varview), LOC389199 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.332892/6283 (ALFA)
T=0.022472/12 (MGP)
T=0.054682/160 (KOREAN)
T=0.056614/101 (Korea1K)
T=0.059594/999 (TOMMO)
T=0.254924/1139 (Estonian)
T=0.268333/161 (NorthernSweden)
T=0.300926/65 (Qatari)
T=0.32589/1632 (1000Genomes)
T=0.32651/3493 (GnomAD_exomes)
T=0.331344/1277 (ALSPAC)
T=0.340885/1264 (TWINSUK)
T=0.360364/50265 (GnomAD)
T=0.367282/97216 (TOPMED)
C=0.388489/108 (SGDP_PRJ)
T=0.425/17 (GENOME_DK)
T=0.459668/1550 (ExAC)
C=0.5/4 (Siberian)
HGVS:: NC_000004.12:g.7939188C>T, NC_000004.11:g.7940915C>T, NM_203423.2:c.23C>T, NR_172651.1:n.188C>T, NM_203423.1:c.23C>T

Select item 769514216.

rs7695142 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:7939130 (GRCh38)
4:7940857 (GRCh37)
Canonical SPDI:: NC_000004.12:7939129:A:G
Gene:: AFAP1 (Varview), LOC389199 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.33245/7780 (ALFA)
G=0.05472/160 (KOREAN)
G=0.056742/101 (Korea1K)
G=0.059398/995 (TOMMO)
G=0.254924/1139 (Estonian)
G=0.266667/160 (NorthernSweden)
G=0.296296/64 (Qatari)
G=0.304375/1475 (GnomAD_exomes)
G=0.325109/1628 (1000Genomes)
G=0.330306/1273 (ALSPAC)
G=0.341154/1265 (TWINSUK)
G=0.362931/50324 (GnomAD)
G=0.367369/97239 (TOPMED)
A=0.382979/108 (SGDP_PRJ)
G=0.425/17 (GENOME_DK)
G=0.440441/599 (ExAC)
A=0.5/4 (Siberian)
HGVS:: NC_000004.12:g.7939130A>G, NC_000004.11:g.7940857A>G, NM_203423.2:c.-36A>G, NR_172651.1:n.130A>G, NM_203423.1:c.-36A>G

Select item 769517017.

rs7695170 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 4:7939176 (GRCh38)
4:7940903 (GRCh37)
Canonical SPDI:: NC_000004.12:7939175:A:G,NC_000004.12:7939175:A:T
Gene:: AFAP1 (Varview), LOC389199 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.316288/21686 (ALFA)
G=0.011236/6 (MGP)
G=0.054645/160 (KOREAN)
G=0.056614/101 (Korea1K)
G=0.059629/999 (TOMMO)
G=0.257826/1153 (Estonian)
G=0.268333/161 (NorthernSweden)
G=0.296296/16 (PRJEB36033)
G=0.297703/337 (Daghestan)
G=0.328704/71 (Qatari)
G=0.334458/1289 (ALSPAC)
G=0.338617/705 (HGDP_Stanford)
G=0.339666/3415 (GnomAD_exomes)
G=0.341963/1268 (TWINSUK)
G=0.360712/1806 (1000Genomes)
G=0.362051/685 (HapMap)
A=0.380137/111 (SGDP_PRJ)
G=0.396131/104852 (TOPMED)
G=0.425/17 (GENOME_DK)
A=0.496772/1693 (ExAC)
A=0.5/7 (Siberian)
HGVS:: NC_000004.12:g.7939176A>G, NC_000004.12:g.7939176A>T, NC_000004.11:g.7940903A>G, NC_000004.11:g.7940903A>T, NM_203423.2:c.11A>G, NM_203423.2:c.11A>T, NR_172651.1:n.176A>G, NR_172651.1:n.176A>T, NM_203423.1:c.11A>G, NM_203423.1:c.11A>T

Select item 999308518.

rs9993085 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:7937307 (GRCh38)
4:7939034 (GRCh37)
Canonical SPDI:: NC_000004.12:7937306:T:C
Gene:: AFAP1 (Varview), LOC389199 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.325675/6152 (ALFA)
C=0.050512/148 (KOREAN)
C=0.05131/94 (Korea1K)
C=0.0597/1001 (TOMMO)
C=0.26/156 (NorthernSweden)
C=0.263839/1182 (Estonian)
C=0.296296/64 (Qatari)
C=0.304185/1523 (1000Genomes)
C=0.316633/316 (GoNL)
C=0.330566/1274 (ALSPAC)
C=0.342661/48013 (GnomAD)
C=0.342772/1271 (TWINSUK)
C=0.347656/92021 (TOPMED)
T=0.40146/110 (SGDP_PRJ)
C=0.425/17 (GENOME_DK)
T=0.5/4 (Siberian)
HGVS:: NC_000004.12:g.7937307T>C, NC_000004.11:g.7939034T>C

Select item 1264033819.

rs12640338 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:7937482 (GRCh38)
4:7939209 (GRCh37)
Canonical SPDI:: NC_000004.12:7937481:T:C
Gene:: AFAP1 (Varview), LOC389199 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.167327/3211 (ALFA)
C=0.014738/27 (Korea1K)
C=0.017446/292 (TOMMO)
C=0.018493/54 (KOREAN)
C=0.060185/13 (Vietnamese)
C=0.105804/474 (Estonian)
C=0.157407/34 (Qatari)
C=0.16/96 (NorthernSweden)
C=0.166302/833 (1000Genomes)
C=0.168824/626 (TWINSUK)
C=0.172548/665 (ALSPAC)
C=0.177355/177 (GoNL)
C=0.190423/26684 (GnomAD)
C=0.193071/51104 (TOPMED)
C=0.2/8 (GENOME_DK)
T=0.449367/71 (SGDP_PRJ)
T=0.5/3 (Siberian)
HGVS:: NC_000004.12:g.7937482T>C, NC_000004.11:g.7939209T>C

Select item 1785298320.

rs17852983 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 4:7939696 (GRCh38)
4:7941423 (GRCh37)
Canonical SPDI:: NC_000004.12:7939695:G:A,NC_000004.12:7939695:G:C
Gene:: AFAP1 (Varview), LOC389199 (Varview)
Functional Consequence:: 5_prime_UTR_variant,non_coding_transcript_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: A=0.00002/2 (GnomAD_exomes)
HGVS:: NC_000004.12:g.7939696G>A, NC_000004.12:g.7939696G>C, NC_000004.11:g.7941423G>A, NC_000004.11:g.7941423G>C, NM_198595.3:c.-43C>T, NM_198595.3:c.-43C>G, NM_198595.2:c.-43C>T, NM_198595.2:c.-43C>G, NM_001134647.2:c.-43C>T, NM_001134647.2:c.-43C>G, NM_001134647.1:c.-43C>T, NM_001134647.1:c.-43C>G, NM_203423.2:c.531G>A, NM_203423.2:c.531G>C, NM_001371091.1:c.-821C>T, NM_001371091.1:c.-821C>G, NR_172651.1:n.696G>A, NR_172651.1:n.696G>C, NM_203423.1:c.531C>G, NM_203423.1:c.531C>A

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