SNP Links for PMC (Select 1380220) - SNP

Select item 356550631.

rs35655063 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:57573476 (GRCh38)
18:55240708 (GRCh37)
Canonical SPDI:: NC_000018.10:57573475:T:C
Gene:: FECH (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.151415/2899 (ALFA)
C=0.00463/1 (Vietnamese)
C=0.008734/16 (Korea1K)
C=0.008898/26 (KOREAN)
C=0.013129/220 (TOMMO)
C=0.099675/7844 (PAGE_STUDY)
C=0.1104/553 (1000Genomes)
C=0.111111/24 (Qatari)
C=0.134372/35567 (TOPMED)
C=0.141863/19883 (GnomAD)
C=0.158929/712 (Estonian)
C=0.176915/656 (TWINSUK)
C=0.182148/702 (ALSPAC)
C=0.187266/100 (MGP)
C=0.206667/124 (NorthernSweden)
C=0.218437/218 (GoNL)
C=0.325/13 (GENOME_DK)
T=0.47/47 (SGDP_PRJ)
T=0.5/3 (Siberian)
HGVS:: NC_000018.10:g.57573476T>C, NC_000018.9:g.55240708T>C, NG_008175.1:g.18262A>G

PubMed

Select item 348866022.

rs34886602 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:57590297 (GRCh38)
18:55257529 (GRCh37)
Canonical SPDI:: NC_000018.10:57590296:C:T
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.07358/1412 (ALFA)
T=0.05/2 (GENOME_DK)
T=0.050926/11 (Qatari)
T=0.059601/221 (TWINSUK)
T=0.06012/60 (GoNL)
T=0.062013/239 (ALSPAC)
T=0.07/42 (NorthernSweden)
T=0.073419/10283 (GnomAD)
T=0.084971/22491 (TOPMED)
T=0.106696/478 (Estonian)
T=0.134603/674 (1000Genomes)
T=0.208333/45 (Vietnamese)
T=0.359386/1053 (KOREAN)
C=0.4/60 (SGDP_PRJ)
T=0.43669/7319 (TOMMO)
C=0.5/10 (Siberian)
HGVS:: NC_000018.10:g.57590297C>T, NC_000018.9:g.55257529C>T, NG_008175.1:g.1441G>A

PubMed

Select item 347796483.

rs34779648 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 18:57588259 (GRCh38)
18:55255491 (GRCh37)
Canonical SPDI:: NC_000018.10:57588258:C:G,NC_000018.10:57588258:C:T
Gene:: FECH (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.16301/3031 (ALFA)
T=0.00463/1 (Vietnamese)
T=0.008734/16 (Korea1K)
T=0.009582/28 (KOREAN)
T=0.013164/221 (TOMMO)
T=0.114928/576 (1000Genomes)
T=0.115741/25 (Qatari)
T=0.147459/39031 (TOPMED)
T=0.156983/22005 (GnomAD)
T=0.178348/799 (Estonian)
T=0.201187/746 (TWINSUK)
T=0.202647/781 (ALSPAC)
T=0.206667/124 (NorthernSweden)
T=0.237475/237 (GoNL)
T=0.375/15 (GENOME_DK)
C=0.453704/49 (SGDP_PRJ)
C=0.5/5 (Siberian)
HGVS:: NC_000018.10:g.57588259C>G, NC_000018.10:g.57588259C>T, NC_000018.9:g.55255491C>G, NC_000018.9:g.55255491C>T, NG_008175.1:g.3479G>C, NG_008175.1:g.3479G>A

PubMed

Select item 170639054.

rs17063905 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:57586872 (GRCh38)
18:55254104 (GRCh37)
Canonical SPDI:: NC_000018.10:57586871:T:C
Gene:: FECH (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.228957/4325 (ALFA)
C=0.125/5 (GENOME_DK)
C=0.148333/89 (NorthernSweden)
C=0.16658/642 (ALSPAC)
C=0.175836/652 (TWINSUK)
C=0.178795/801 (Estonian)
C=0.217593/47 (Vietnamese)
C=0.24537/53 (Qatari)
C=0.279705/39194 (GnomAD)
C=0.29054/76903 (TOPMED)
C=0.330887/1657 (1000Genomes)
C=0.357582/1047 (KOREAN)
T=0.396552/115 (SGDP_PRJ)
T=0.416667/10 (Siberian)
C=0.42066/7050 (TOMMO)
HGVS:: NC_000018.10:g.57586872T>C, NC_000018.9:g.55254104T>C, NG_008175.1:g.4866A>G

PubMed

Select item 116600015.

rs11660001 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:57552997 (GRCh38)
18:55220229 (GRCh37)
Canonical SPDI:: NC_000018.10:57552996:G:A
Gene:: FECH (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.209952/18713 (ALFA)
A=0.126437/9875 (PAGE_STUDY)
A=0.127574/2138 (TOMMO)
A=0.135514/29 (Vietnamese)
A=0.136177/399 (KOREAN)
A=0.162946/730 (Estonian)
A=0.163265/48 (HapMap)
A=0.169269/848 (1000Genomes)
A=0.176988/46847 (TOPMED)
A=0.180758/25313 (GnomAD)
A=0.185185/40 (Qatari)
A=0.23274/863 (TWINSUK)
A=0.241308/930 (ALSPAC)
A=0.248333/149 (NorthernSweden)
A=0.255511/255 (GoNL)
A=0.4/16 (GENOME_DK)
G=0.432432/64 (SGDP_PRJ)
G=0.5/3 (Siberian)
HGVS:: NC_000018.10:g.57552997G>A, NC_000018.9:g.55220229G>A, NG_008175.1:g.38741C>T

PubMed

Select item 72413776.

rs7241377 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 18:57567778 (GRCh38)
18:55235010 (GRCh37)
Canonical SPDI:: NC_000018.10:57567777:G:A,NC_000018.10:57567777:G:C,NC_000018.10:57567777:G:T
Gene:: FECH (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.392695/7418 (ALFA)
C=0./0 (KOREAN)
G=0.2/8 (GENOME_DK)
G=0.272727/12 (Siberian)
G=0.277778/130 (SGDP_PRJ)
G=0.349507/1347 (ALSPAC)
G=0.351133/1302 (TWINSUK)
G=0.366268/6139 (TOMMO)
G=0.366733/366 (GoNL)
G=0.377183/691 (Korea1K)
G=0.402097/106431 (TOPMED)
G=0.408537/134 (HapMap)
G=0.411667/247 (NorthernSweden)
G=0.4125/1848 (Estonian)
G=0.425515/2131 (1000Genomes)
T=0.425926/92 (Qatari)
G=0.475/38 (PRJEB36033)
G=0.481132/102 (Vietnamese)
HGVS:: NC_000018.10:g.57567778G>A, NC_000018.10:g.57567778G>C, NC_000018.10:g.57567778G>T, NC_000018.9:g.55235010G>A, NC_000018.9:g.55235010G>C, NC_000018.9:g.55235010G>T, NG_008175.1:g.23960C>T, NG_008175.1:g.23960C>G, NG_008175.1:g.23960C>A

PubMed

Select item 72304867.

rs7230486 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 18:57564929 (GRCh38)
18:55232161 (GRCh37)
Canonical SPDI:: NC_000018.10:57564928:C:A,NC_000018.10:57564928:C:T
Gene:: FECH (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.098094/1853 (ALFA)
A=0./0 (PRJEB36033)
A=0.023333/14 (NorthernSweden)
A=0.04509/45 (GoNL)
A=0.048262/186 (ALSPAC)
A=0.050971/189 (TWINSUK)
A=0.09308/417 (Estonian)
A=0.097222/21 (Qatari)
A=0.106481/23 (Vietnamese)
A=0.115118/1929 (TOMMO)
A=0.115519/16192 (GnomAD)
A=0.117171/31014 (TOPMED)
A=0.143036/716 (1000Genomes)
A=0.145448/425 (KOREAN)
A=0.145742/267 (Korea1K)
C=0.435484/54 (SGDP_PRJ)
C=0.5/5 (Siberian)
HGVS:: NC_000018.10:g.57564929C>A, NC_000018.10:g.57564929C>T, NC_000018.9:g.55232161C>A, NC_000018.9:g.55232161C>T, NG_008175.1:g.26809G>T, NG_008175.1:g.26809G>A

PubMed

Select item 22727838.

rs2272783 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 18:57571588 (GRCh38)
18:55238820 (GRCh37)
Canonical SPDI:: NC_000018.10:57571587:A:C,NC_000018.10:57571587:A:G,NC_000018.10:57571587:A:T
Gene:: FECH (Varview)
Functional Consequence:: intron_variant
Clinical significance:: conflicting-interpretations-of-pathogenicity,uncertain-significance,pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.059681/10147 (ALFA)
G=0./0 (PRJEB36033)
G=0.025/1 (GENOME_DK)
G=0.037037/8 (Qatari)
G=0.037367/486 (GoESP)
G=0.037453/20 (MGP)
G=0.040737/157 (ALSPAC)
G=0.041667/25 (NorthernSweden)
G=0.047094/47 (GoNL)
G=0.049353/183 (TWINSUK)
G=0.061996/8690 (GnomAD)
G=0.075658/23 (FINRISK)
G=0.075696/20036 (TOPMED)
G=0.076116/341 (Estonian)
G=0.107296/12974 (ExAC)
G=0.11807/29555 (GnomAD_exomes)
G=0.124339/235 (HapMap)
G=0.133979/671 (1000Genomes)
G=0.15016/94 (Chileans)
G=0.32732/254 (PRJEB37584)
G=0.382935/1122 (KOREAN)
G=0.393013/720 (Korea1K)
A=0.398551/55 (SGDP_PRJ)
G=0.444122/7443 (TOMMO)
A=0.458333/11 (Siberian)
HGVS:: NC_000018.10:g.57571588A>C, NC_000018.10:g.57571588A>G, NC_000018.10:g.57571588A>T, NC_000018.9:g.55238820A>C, NC_000018.9:g.55238820A>G, NC_000018.9:g.55238820A>T, NG_008175.1:g.20150T>G, NG_008175.1:g.20150T>C, NG_008175.1:g.20150T>A

PubMed

Select item 22692199.

rs2269219 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 18:57580222 (GRCh38)
18:55247454 (GRCh37)
Canonical SPDI:: NC_000018.10:57580221:G:A,NC_000018.10:57580221:G:C,NC_000018.10:57580221:G:T
Gene:: FECH (Varview)
Functional Consequence:: intron_variant
Clinical significance:: conflicting-interpretations-of-pathogenicity,benign,likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.188773/45187 (ALFA)
T=0./0 (GENOGRAPHIC)
A=0.1/4 (GENOME_DK)
A=0.125/8 (PRJEB36033)
A=0.146667/88 (NorthernSweden)
A=0.161323/161 (GoNL)
A=0.16165/623 (ALSPAC)
A=0.1726/640 (TWINSUK)
A=0.176865/792 (Estonian)
A=0.184211/56 (FINRISK)
A=0.191011/102 (MGP)
A=0.25463/55 (Qatari)
A=0.258786/162 (Chileans)
A=0.258804/3366 (GoESP)
A=0.269481/166 (Vietnamese)
A=0.276292/38682 (GnomAD)
A=0.287899/76204 (TOPMED)
A=0.307692/240 (PRJEB37584)
A=0.31382/654 (HGDP_Stanford)
A=0.333854/1672 (1000Genomes)
A=0.341463/644 (HapMap)
A=0.351536/1030 (KOREAN)
A=0.371839/29263 (PAGE_STUDY)
G=0.403448/117 (SGDP_PRJ)
G=0.416667/10 (Siberian)
A=0.417899/7004 (TOMMO)
HGVS:: NC_000018.10:g.57580222G>A, NC_000018.10:g.57580222G>C, NC_000018.10:g.57580222G>T, NC_000018.9:g.55247454G>A, NC_000018.9:g.55247454G>C, NC_000018.9:g.55247454G>T, NG_008175.1:g.11516C>T, NG_008175.1:g.11516C>G, NG_008175.1:g.11516C>A

PubMed

Select item 54977710.

rs549777 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 18:57552103 (GRCh38)
18:55219335 (GRCh37)
Canonical SPDI:: NC_000018.10:57552102:C:G,NC_000018.10:57552102:C:T
Gene:: FECH (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.221019/4042 (ALFA)
T=0.081731/17 (Vietnamese)
T=0.125/5 (GENOME_DK)
T=0.127893/2143 (TOMMO)
T=0.143333/86 (NorthernSweden)
T=0.144079/421 (KOREAN)
T=0.148634/272 (Korea1K)
T=0.162037/35 (Qatari)
T=0.204423/758 (TWINSUK)
T=0.210714/944 (Estonian)
T=0.211988/817 (ALSPAC)
T=0.252201/66755 (TOPMED)
T=0.252562/35241 (GnomAD)
T=0.260306/1304 (1000Genomes)
C=0.416667/5 (Siberian)
C=0.420455/74 (SGDP_PRJ)
HGVS:: NC_000018.10:g.57552103C>G, NC_000018.10:g.57552103C>T, NC_000018.9:g.55219335C>G, NC_000018.9:g.55219335C>T, NG_008175.1:g.39635G>C, NG_008175.1:g.39635G>A

PubMed

Select item 43439711.

rs434397 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 18:57590927 (GRCh38)
18:55258159 (GRCh37)
Canonical SPDI:: NC_000018.10:57590926:T:A,NC_000018.10:57590926:T:C,NC_000018.10:57590926:T:G
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.235363/4446 (ALFA)
C=0./0 (KOREAN)
T=0.077511/142 (Korea1K)
T=0.079311/1329 (TOMMO)
T=0.15/6 (GENOME_DK)
T=0.166667/9 (Siberian)
T=0.176136/93 (SGDP_PRJ)
T=0.208333/45 (Qatari)
T=0.209419/209 (GoNL)
T=0.210171/810 (ALSPAC)
T=0.220487/1104 (1000Genomes)
T=0.221413/821 (TWINSUK)
T=0.233296/61751 (TOPMED)
T=0.245754/34407 (GnomAD)
T=0.246667/148 (NorthernSweden)
T=0.251116/1125 (Estonian)
HGVS:: NC_000018.10:g.57590927T>A, NC_000018.10:g.57590927T>C, NC_000018.10:g.57590927T>G, NC_000018.9:g.55258159T>A, NC_000018.9:g.55258159T>C, NC_000018.9:g.55258159T>G, NG_008175.1:g.811A>T, NG_008175.1:g.811A>G, NG_008175.1:g.811A>C

PubMed

Select item 833912.

rs8339 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:57550464 (GRCh38)
18:55217696 (GRCh37)
Canonical SPDI:: NC_000018.10:57550463:G:A
Gene:: FECH (Varview)
Functional Consequence:: 3_prime_UTR_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.14337/11937 (ALFA)
A=0.092184/92 (GoNL)
A=0.103333/62 (NorthernSweden)
A=0.110535/426 (ALSPAC)
A=0.114509/513 (Estonian)
A=0.114617/425 (TWINSUK)
A=0.125/5 (GENOME_DK)
A=0.152778/33 (Qatari)
A=0.218488/30601 (GnomAD)
A=0.240296/63604 (TOPMED)
A=0.299656/1501 (1000Genomes)
A=0.301344/628 (HGDP_Stanford)
A=0.315229/592 (HapMap)
A=0.347338/27332 (PAGE_STUDY)
A=0.349057/74 (Vietnamese)
G=0.356/89 (SGDP_PRJ)
G=0.464286/13 (Siberian)
A=0.477816/1400 (KOREAN)
A=0.498266/8351 (TOMMO)
G=0.5/2 (PRJEB36033)
HGVS:: NC_000018.10:g.57550464G>A, NC_000018.9:g.55217696G>A, NG_008175.1:g.41274C>T, NM_000140.5:c.*248C>T, NM_000140.4:c.*248C>T, NM_000140.3:c.*248C>T, NM_001012515.4:c.*248C>T, NM_001012515.3:c.*248C>T, NM_001012515.2:c.*248C>T, NM_001371095.1:c.*248C>T, NM_001374778.1:c.*248C>T, NM_001371094.1:c.*248C>T, XM_011525881.2:c.*248C>T, XM_011525881.1:c.*248C>T

PubMed

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