YIPF1 - SNP

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Select item 146671.

rs14667 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:53852181 (GRCh38)
1:54317854 (GRCh37)
Canonical SPDI:: NC_000001.11:53852180:A:G
Gene:: YIPF1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0./0 (HapMap)
HGVS:: NC_000001.11:g.53852181A>G, NC_000001.10:g.54317854A>G, NM_018982.5:c.*98T>C, NM_018982.4:c.*98T>C, NR_036639.2:n.1424T>C, NR_036639.1:n.1441T>C, NR_036640.2:n.1204T>C, NR_036640.1:n.1221T>C, NR_135075.2:n.1073T>C, NR_135075.1:n.1107T>C

Select item 9264562.

rs926456 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 1:53888492 (GRCh38)
1:54354165 (GRCh37)
Canonical SPDI:: NC_000001.11:53888491:A:C,NC_000001.11:53888491:A:G,NC_000001.11:53888491:A:T
Gene:: YIPF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.452509/67756 (ALFA)
T=0./0 (KOREAN)
A=0.097318/1631 (TOMMO)
A=0.126092/231 (Korea1K)
A=0.158974/124 (PRJEB37584)
A=0.165094/35 (Vietnamese)
A=0.231278/105 (SGDP_PRJ)
A=0.282609/13 (Siberian)
A=0.338695/1696 (1000Genomes)
A=0.340909/645 (HapMap)
A=0.341859/26905 (PAGE_STUDY)
A=0.400434/105991 (TOPMED)
A=0.406561/56925 (GnomAD)
A=0.440581/1698 (ALSPAC)
A=0.446872/1657 (TWINSUK)
A=0.448276/26 (PRJEB36033)
A=0.456667/274 (NorthernSweden)
A=0.457916/457 (GoNL)
A=0.475/19 (GENOME_DK)
G=0.490741/106 (Qatari)
A=0.49933/2237 (Estonian)
HGVS:: NC_000001.11:g.53888492A>C, NC_000001.11:g.53888492A>G, NC_000001.11:g.53888492A>T, NC_000001.10:g.54354165A>C, NC_000001.10:g.54354165A>G, NC_000001.10:g.54354165A>T, NG_076335.1:g.37A>C, NG_076335.1:g.37A>G, NG_076335.1:g.37A>T

Select item 10184023.

rs1018402 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 1:53883693 (GRCh38)
1:54349366 (GRCh37)
Canonical SPDI:: NC_000001.11:53883692:T:A,NC_000001.11:53883692:T:C,NC_000001.11:53883692:T:G
Gene:: YIPF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.41154/7774 (ALFA)
G=0./0 (KOREAN)
T=0.089921/1507 (TOMMO)
T=0.196262/42 (Vietnamese)
T=0.209052/97 (SGDP_PRJ)
T=0.280864/91 (HapMap)
T=0.282609/13 (Siberian)
T=0.317926/1592 (1000Genomes)
T=0.376864/99752 (TOPMED)
T=0.383474/53717 (GnomAD)
T=0.408926/1576 (ALSPAC)
T=0.415049/1539 (TWINSUK)
T=0.431667/259 (NorthernSweden)
T=0.442886/442 (GoNL)
T=0.461384/2067 (Estonian)
T=0.475/19 (GENOME_DK)
T=0.490741/106 (Qatari)
HGVS:: NC_000001.11:g.53883693T>A, NC_000001.11:g.53883693T>C, NC_000001.11:g.53883693T>G, NC_000001.10:g.54349366T>A, NC_000001.10:g.54349366T>C, NC_000001.10:g.54349366T>G

Select item 11279224.

rs1127922 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 1:53852024 (GRCh38)
1:54317697 (GRCh37)
Canonical SPDI:: NC_000001.11:53852023:T:A,NC_000001.11:53852023:T:C,NC_000001.11:53852023:T:G
Gene:: YIPF1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.022348/396 (ALFA)
T=0./0 (GENOME_DK)
A=0./0 (KOREAN)
T=0./0 (Korea1K)
T=0./0 (NorthernSweden)
T=0./0 (Siberian)
T=0./0 (TOMMO)
T=0./0 (TWINSUK)
T=0./0 (Vietnamese)
T=0.000259/1 (ALSPAC)
T=0.017986/10 (SGDP_PRJ)
T=0.027778/6 (Qatari)
T=0.042929/6021 (GnomAD)
T=0.044972/225 (1000Genomes)
T=0.045219/11969 (TOPMED)
HGVS:: NC_000001.11:g.53852024T>A, NC_000001.11:g.53852024T>C, NC_000001.11:g.53852024T>G, NC_000001.10:g.54317697T>A, NC_000001.10:g.54317697T>C, NC_000001.10:g.54317697T>G, NM_018982.5:c.*255A>T, NM_018982.5:c.*255A>G, NM_018982.5:c.*255A>C, NM_018982.4:c.*255A>T, NM_018982.4:c.*255A>G, NM_018982.4:c.*255A>C, NR_036639.2:n.1581A>T, NR_036639.2:n.1581A>G, NR_036639.2:n.1581A>C, NR_036639.1:n.1598A>T, NR_036639.1:n.1598A>G, NR_036639.1:n.1598A>C, NR_036640.2:n.1361A>T, NR_036640.2:n.1361A>G, NR_036640.2:n.1361A>C, NR_036640.1:n.1378A>T, NR_036640.1:n.1378A>G, NR_036640.1:n.1378A>C, NR_135075.2:n.1230A>T, NR_135075.2:n.1230A>G, NR_135075.2:n.1230A>C, NR_135075.1:n.1264A>T, NR_135075.1:n.1264A>G, NR_135075.1:n.1264A>C

Select item 11279295.

rs1127929 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:53851921 (GRCh38)
1:54317594 (GRCh37)
Canonical SPDI:: NC_000001.11:53851920:G:A
Gene:: YIPF1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by cluster
HGVS:: NC_000001.11:g.53851921G>A, NC_000001.10:g.54317594G>A, NM_018982.5:c.*358C>T, NM_018982.4:c.*358C>T, NR_036639.2:n.1684C>T, NR_036639.1:n.1701C>T, NR_036640.2:n.1464C>T, NR_036640.1:n.1481C>T, NR_135075.2:n.1333C>T, NR_135075.1:n.1367C>T

Select item 11279316.

rs1127931 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:53851812 (GRCh38)
1:54317485 (GRCh37)
Canonical SPDI:: NC_000001.11:53851811:G:A,NC_000001.11:53851811:G:C
Gene:: YIPF1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.037729/5776 (ALFA)
A=0.00463/1 (Qatari)
A=0.016667/10 (NorthernSweden)
A=0.02505/25 (GoNL)
A=0.030134/135 (Estonian)
A=0.035603/178 (1000Genomes)
A=0.038339/24 (Chileans)
A=0.041515/160 (ALSPAC)
A=0.041519/47 (Daghestan)
A=0.043959/163 (TWINSUK)
A=0.04717/10 (Vietnamese)
A=0.05/2 (GENOME_DK)
A=0.05112/73 (HapMap)
A=0.119152/1997 (TOMMO)
A=0.122526/359 (KOREAN)
G=0.472973/35 (SGDP_PRJ)
G=0.5/4 (Siberian)
HGVS:: NC_000001.11:g.53851812G>A, NC_000001.11:g.53851812G>C, NC_000001.10:g.54317485G>A, NC_000001.10:g.54317485G>C, NM_018982.5:c.*467C>T, NM_018982.5:c.*467C>G, NM_018982.4:c.*467C>T, NM_018982.4:c.*467C>G, NR_036639.2:n.1793C>T, NR_036639.2:n.1793C>G, NR_036639.1:n.1810C>T, NR_036639.1:n.1810C>G, NR_036640.2:n.1573C>T, NR_036640.2:n.1573C>G, NR_036640.1:n.1590C>T, NR_036640.1:n.1590C>G, NR_135075.2:n.1442C>T, NR_135075.2:n.1442C>G, NR_135075.1:n.1476C>T, NR_135075.1:n.1476C>G

Select item 11810947.

rs1181094 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:53854710 (GRCh38)
1:54320383 (GRCh37)
Canonical SPDI:: NC_000001.11:53854709:G:A,NC_000001.11:53854709:G:T
Gene:: YIPF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.35336/68826 (ALFA)
T=0.259259/56 (Qatari)
G=0.305556/11 (Siberian)
G=0.325949/103 (SGDP_PRJ)
T=0.357715/357 (GoNL)
T=0.362723/1625 (Estonian)
T=0.371401/774 (HGDP_Stanford)
T=0.3726/1436 (ALSPAC)
T=0.376214/1395 (TWINSUK)
T=0.381386/100949 (TOPMED)
T=0.396667/238 (NorthernSweden)
T=0.4/16 (GENOME_DK)
T=0.411205/778 (HapMap)
G=0.415888/89 (Vietnamese)
T=0.423173/2119 (1000Genomes)
G=0.42933/7196 (TOMMO)
G=0.463481/1358 (KOREAN)
T=0.487179/38 (PRJEB36033)
HGVS:: NC_000001.11:g.53854710G>A, NC_000001.11:g.53854710G>T, NC_000001.10:g.54320383G>A, NC_000001.10:g.54320383G>T

Select item 11810958.

rs1181095 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:53856877 (GRCh38)
1:54322550 (GRCh37)
Canonical SPDI:: NC_000001.11:53856876:C:A,NC_000001.11:53856876:C:T
Gene:: YIPF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.017614/254 (ALFA)
A=0.000035/1 (TOMMO)
T=0.009259/2 (Qatari)
T=0.019675/99 (1000Genomes)
T=0.022501/3154 (GnomAD)
T=0.023733/6282 (TOPMED)
C=0.5/8 (SGDP_PRJ)
HGVS:: NC_000001.11:g.53856877C>A, NC_000001.11:g.53856877C>T, NC_000001.10:g.54322550C>A, NC_000001.10:g.54322550C>T

Select item 11810969.

rs1181096 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 1:53860628 (GRCh38)
1:54326301 (GRCh37)
Canonical SPDI:: NC_000001.11:53860627:C:A,NC_000001.11:53860627:C:G
Gene:: YIPF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.395924/7479 (ALFA)
A=0.273148/59 (Qatari)
C=0.305556/11 (Siberian)
C=0.315476/106 (SGDP_PRJ)
A=0.357715/357 (GoNL)
A=0.362946/1626 (Estonian)
A=0.372859/1437 (ALSPAC)
A=0.377292/1399 (TWINSUK)
A=0.396667/238 (NorthernSweden)
A=0.4/16 (GENOME_DK)
C=0.416667/90 (Vietnamese)
C=0.429401/7197 (TOMMO)
A=0.434746/115073 (TOPMED)
A=0.437862/61313 (GnomAD)
C=0.463481/1358 (KOREAN)
A=0.479544/2402 (1000Genomes)
HGVS:: NC_000001.11:g.53860628C>A, NC_000001.11:g.53860628C>G, NC_000001.10:g.54326301C>A, NC_000001.10:g.54326301C>G

Select item 118109710.

rs1181097 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:53860817 (GRCh38)
1:54326490 (GRCh37)
Canonical SPDI:: NC_000001.11:53860816:T:A
Gene:: YIPF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.388142/7332 (ALFA)
A=0.268519/58 (Qatari)
T=0.305556/11 (Siberian)
T=0.322086/105 (SGDP_PRJ)
A=0.357715/357 (GoNL)
A=0.362723/1625 (Estonian)
A=0.3726/1436 (ALSPAC)
A=0.377292/1399 (TWINSUK)
A=0.396667/238 (NorthernSweden)
A=0.4/16 (GENOME_DK)
A=0.420258/111238 (TOPMED)
A=0.424845/59457 (GnomAD)
T=0.429471/7198 (TOMMO)
T=0.429907/92 (Vietnamese)
A=0.457143/864 (HapMap)
A=0.46346/2321 (1000Genomes)
T=0.463481/1358 (KOREAN)
HGVS:: NC_000001.11:g.53860817T>A, NC_000001.10:g.54326490T>A

Select item 188345211.

rs1883452 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 1:53866042 (GRCh38)
1:54331715 (GRCh37)
Canonical SPDI:: NC_000001.11:53866041:C:A,NC_000001.11:53866041:C:G,NC_000001.11:53866041:C:T
Gene:: YIPF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.277778/10 (Siberian)
G=0.291667/63 (Qatari)
C=0.309249/107 (SGDP_PRJ)
G=0.363393/1628 (Estonian)
G=0.366733/366 (GoNL)
G=0.375454/1447 (ALSPAC)
G=0.381877/1416 (TWINSUK)
G=0.396667/238 (NorthernSweden)
G=0.4/16 (GENOME_DK)
C=0.420561/90 (Vietnamese)
C=0.427242/7161 (TOMMO)
G=0.439412/116308 (TOPMED)
C=0.458703/1344 (KOREAN)
G=0.483916/2423 (1000Genomes)
HGVS:: NC_000001.11:g.53866042C>A, NC_000001.11:g.53866042C>G, NC_000001.11:g.53866042C>T, NC_000001.10:g.54331715C>A, NC_000001.10:g.54331715C>G, NC_000001.10:g.54331715C>T

Select item 188345312.

rs1883453 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:53866090 (GRCh38)
1:54331763 (GRCh37)
Canonical SPDI:: NC_000001.11:53866089:A:G
Gene:: YIPF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.437339/10211 (ALFA)
G=0.110487/59 (MGP)
A=0.285714/12 (Siberian)
A=0.289062/111 (SGDP_PRJ)
A=0.309788/5192 (TOMMO)
G=0.314815/68 (Qatari)
A=0.323144/592 (Korea1K)
A=0.335836/984 (KOREAN)
A=0.365741/79 (Vietnamese)
G=0.392786/392 (GoNL)
G=0.395089/1770 (Estonian)
G=0.413333/248 (NorthernSweden)
G=0.417229/1608 (ALSPAC)
G=0.426106/1580 (TWINSUK)
G=0.45/18 (GENOME_DK)
A=0.470175/2355 (1000Genomes)
G=0.482979/67619 (GnomAD)
G=0.484234/128172 (TOPMED)
HGVS:: NC_000001.11:g.53866090A>G, NC_000001.10:g.54331763A>G

Select item 193683513.

rs1936835 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 1:53853092 (GRCh38)
1:54318765 (GRCh37)
Canonical SPDI:: NC_000001.11:53853091:T:C,NC_000001.11:53853091:T:G
Gene:: YIPF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.425766/30679 (ALFA)
C=0.092292/1547 (TOMMO)
C=0.12731/372 (KOREAN)
C=0.172897/37 (Vietnamese)
C=0.298626/565 (HapMap)
C=0.315272/1579 (1000Genomes)
T=0.34589/101 (SGDP_PRJ)
C=0.368042/767 (HGDP_Stanford)
T=0.368421/14 (Siberian)
C=0.37703/99796 (TOPMED)
C=0.384313/53780 (GnomAD)
C=0.388889/28 (PRJEB36033)
C=0.422937/1630 (ALSPAC)
C=0.427994/1587 (TWINSUK)
C=0.453908/453 (GoNL)
C=0.458333/275 (NorthernSweden)
C=0.467857/2096 (Estonian)
C=0.475/19 (GENOME_DK)
T=0.5/108 (Qatari)
HGVS:: NC_000001.11:g.53853092T>C, NC_000001.11:g.53853092T>G, NC_000001.10:g.54318765T>C, NC_000001.10:g.54318765T>G

Select item 201501114.

rs2015011 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:53883927 (GRCh38)
1:54349600 (GRCh37)
Canonical SPDI:: NC_000001.11:53883926:T:C
Gene:: YIPF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.411699/7777 (ALFA)
T=0.090134/1511 (TOMMO)
T=0.119795/351 (KOREAN)
T=0.173077/36 (Vietnamese)
T=0.209052/97 (SGDP_PRJ)
T=0.282609/13 (Siberian)
T=0.317926/1592 (1000Genomes)
T=0.376633/99691 (TOPMED)
T=0.383446/53671 (GnomAD)
T=0.409185/1577 (ALSPAC)
T=0.415049/1539 (TWINSUK)
T=0.431667/259 (NorthernSweden)
T=0.440882/440 (GoNL)
T=0.4625/2072 (Estonian)
T=0.475/19 (GENOME_DK)
T=0.490741/106 (Qatari)
HGVS:: NC_000001.11:g.53883927T>C, NC_000001.10:g.54349600T>C

Select item 227292715.

rs2272927 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:53871714 (GRCh38)
1:54337387 (GRCh37)
Canonical SPDI:: NC_000001.11:53871713:G:A
Gene:: YIPF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000142/2 (ALFA)
A=0.000379/53 (GnomAD)
A=0.000582/154 (TOPMED)
A=0.003067/1 (HapMap)
A=0.003904/20 (1000Genomes)
A=0.006547/110 (TOMMO)
A=0.009346/2 (Vietnamese)
A=0.012009/22 (Korea1K)
A=0.013005/38 (KOREAN)
G=0.5/2 (SGDP_PRJ)
HGVS:: NC_000001.11:g.53871714G>A, NC_000001.10:g.54337387G>A

Select item 227292816.

rs2272928 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 1:53878609 (GRCh38)
1:54344282 (GRCh37)
Canonical SPDI:: NC_000001.11:53878608:C:A,NC_000001.11:53878608:C:G,NC_000001.11:53878608:C:T
Gene:: YIPF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.419763/13377 (ALFA)
T=0./0 (KOREAN)
C=0.09024/1512 (TOMMO)
C=0.167752/103 (Vietnamese)
C=0.199134/92 (SGDP_PRJ)
C=0.282609/13 (Siberian)
C=0.29661/560 (HapMap)
C=0.312617/1566 (1000Genomes)
C=0.312722/24610 (PAGE_STUDY)
C=0.371956/98453 (TOPMED)
C=0.379793/53174 (GnomAD)
C=0.38167/4964 (GoESP)
C=0.396574/47857 (ExAC)
C=0.403302/94204 (GnomAD_exomes)
C=0.410112/219 (MGP)
C=0.418786/1614 (ALSPAC)
C=0.420712/1560 (TWINSUK)
C=0.44489/444 (GoNL)
C=0.458333/275 (NorthernSweden)
C=0.466071/2088 (Estonian)
C=0.475/19 (GENOME_DK)
C=0.476974/145 (FINRISK)
C=0.486111/105 (Qatari)
HGVS:: NC_000001.11:g.53878609C>A, NC_000001.11:g.53878609C>G, NC_000001.11:g.53878609C>T, NC_000001.10:g.54344282C>A, NC_000001.10:g.54344282C>G, NC_000001.10:g.54344282C>T

Select item 227292917.

rs2272929 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 1:53889881 (GRCh38)
1:54355554 (GRCh37)
Canonical SPDI:: NC_000001.11:53889880:A:C,NC_000001.11:53889880:A:G,NC_000001.11:53889880:A:T
Gene:: YIPF1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.2221/1467 (ALFA)
A=0.1365/400 (KOREAN)
A=0.2826/13 (Siberian)
C=0.318/145 (SGDP_PRJ)
A=0.3387/1696 (1000Genomes)
T=0.3416/69 (Qatari)
HGVS:: NC_000001.11:g.53889881A>C, NC_000001.11:g.53889881A>G, NC_000001.11:g.53889881A>T, NC_000001.10:g.54355554A>C, NC_000001.10:g.54355554A>G, NC_000001.10:g.54355554A>T, NG_023306.1:g.694A>C, NG_023306.1:g.694A>G, NG_023306.1:g.694A>T, NG_060596.1:g.246A>C, NG_060596.1:g.246A>G, NG_060596.1:g.246A>T

Select item 227293018.

rs2272930 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 1:53889973 (GRCh38)
1:54355646 (GRCh37)
Canonical SPDI:: NC_000001.11:53889972:T:A,NC_000001.11:53889972:T:C,NC_000001.11:53889972:T:G
Gene:: YIPF1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.335498/6096 (ALFA)
C=0.226852/49 (Qatari)
T=0.277778/10 (Siberian)
C=0.33125/1484 (Estonian)
C=0.352705/352 (GoNL)
C=0.353918/1364 (ALSPAC)
C=0.357066/1324 (TWINSUK)
C=0.358888/94994 (TOPMED)
T=0.36478/116 (SGDP_PRJ)
C=0.398333/239 (NorthernSweden)
C=0.4/16 (GENOME_DK)
C=0.406933/2038 (1000Genomes)
T=0.42381/89 (Vietnamese)
T=0.427348/7162 (TOMMO)
T=0.459386/1346 (KOREAN)
HGVS:: NC_000001.11:g.53889973T>A, NC_000001.11:g.53889973T>C, NC_000001.11:g.53889973T>G, NC_000001.10:g.54355646T>A, NC_000001.10:g.54355646T>C, NC_000001.10:g.54355646T>G, NG_023306.1:g.786T>A, NG_023306.1:g.786T>C, NG_023306.1:g.786T>G, NG_060596.1:g.338T>A, NG_060596.1:g.338T>C, NG_060596.1:g.338T>G

Select item 227293119.

rs2272931 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:53890167 (GRCh38)
1:54355840 (GRCh37)
Canonical SPDI:: NC_000001.11:53890166:C:G,NC_000001.11:53890166:C:T
Gene:: YIPF1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.204572/14507 (ALFA)
T=0.125/5 (GENOME_DK)
T=0.145/87 (NorthernSweden)
T=0.147059/10 (PRJEB36033)
T=0.16942/759 (Estonian)
T=0.189379/189 (GoNL)
T=0.197141/731 (TWINSUK)
T=0.205241/791 (ALSPAC)
T=0.226317/31703 (GnomAD)
T=0.228571/48 (Vietnamese)
T=0.240141/63563 (TOPMED)
T=0.243358/458 (HapMap)
T=0.25/54 (Qatari)
T=0.251919/525 (HGDP_Stanford)
T=0.254528/1275 (1000Genomes)
T=0.309498/567 (Korea1K)
T=0.323891/949 (KOREAN)
T=0.33003/5531 (TOMMO)
C=0.410569/101 (SGDP_PRJ)
C=0.5/7 (Siberian)
HGVS:: NC_000001.11:g.53890167C>G, NC_000001.11:g.53890167C>T, NC_000001.10:g.54355840C>G, NC_000001.10:g.54355840C>T, NG_023306.1:g.980C>G, NG_023306.1:g.980C>T

Select item 229450820.

rs2294508 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 1:53888985 (GRCh38)
1:54354658 (GRCh37)
Canonical SPDI:: NC_000001.11:53888984:T:C,NC_000001.11:53888984:T:G
Gene:: YIPF1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.206466/61287 (ALFA)
G=0.088816/27 (FINRISK)
G=0.125/5 (GENOME_DK)
G=0.145/87 (NorthernSweden)
G=0.169196/758 (Estonian)
G=0.189379/189 (GoNL)
G=0.196872/730 (TWINSUK)
G=0.204982/790 (ALSPAC)
G=0.207865/111 (MGP)
G=0.219626/47 (Vietnamese)
G=0.221553/55288 (GnomAD_exomes)
G=0.221898/2886 (GoESP)
G=0.222685/26573 (ExAC)
G=0.226335/31691 (GnomAD)
G=0.240164/63569 (TOPMED)
G=0.244186/462 (HapMap)
G=0.25/54 (Qatari)
G=0.254372/1274 (1000Genomes)
G=0.276321/21747 (PAGE_STUDY)
G=0.309498/567 (Korea1K)
G=0.323208/947 (KOREAN)
G=0.33003/5531 (TOMMO)
T=0.410569/101 (SGDP_PRJ)
T=0.5/7 (Siberian)
HGVS:: NC_000001.11:g.53888985T>C, NC_000001.11:g.53888985T>G, NC_000001.10:g.54354658T>C, NC_000001.10:g.54354658T>G, NM_018982.5:c.-48A>G, NM_018982.5:c.-48A>C, NM_018982.4:c.-48A>G, NM_018982.4:c.-48A>C, NR_036639.2:n.307A>G, NR_036639.2:n.307A>C, NR_036639.1:n.324A>G, NR_036639.1:n.324A>C, NR_036640.2:n.87A>G, NR_036640.2:n.87A>C, NR_036640.1:n.104A>G, NR_036640.1:n.104A>C

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