HEIH - SNP - NCBI

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Select item 150251.

rs15025 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:180830020 (GRCh38)
5:180257020 (GRCh37)
Canonical SPDI:: NC_000005.10:180830019:C:T
Gene:: ZFP62 (Varview), LINC00847 (Varview), HEIH (Varview)
Functional Consequence:: genic_downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,intron_variant
Validated:: by cluster
HGVS:: NC_000005.10:g.180830020C>T, NC_000005.9:g.180257020C>T, XR_007058622.1:n.1599G>A, XR_007058623.1:n.1599G>A, NR_045680.1:n.1599G>A

Select item 8995462.

rs899546 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 5:180831750 (GRCh38)
5:180258750 (GRCh37)
Canonical SPDI:: NC_000005.10:180831749:C:G,NC_000005.10:180831749:C:T
Gene:: ZFP62 (Varview), LINC00847 (Varview), HEIH (Varview)
Functional Consequence:: genic_upstream_transcript_variant,genic_downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.076086/6329 (ALFA)
T=0.013889/3 (Qatari)
T=0.05/2 (GENOME_DK)
T=0.058824/6 (PRJEB36033)
T=0.064716/73 (Daghestan)
T=0.068973/309 (Estonian)
T=0.072276/268 (TWINSUK)
T=0.07343/283 (ALSPAC)
T=0.073489/10307 (GnomAD)
T=0.078333/47 (NorthernSweden)
T=0.081162/81 (GoNL)
T=0.091632/24254 (TOPMED)
T=0.143348/718 (1000Genomes)
T=0.177543/370 (HGDP_Stanford)
T=0.205738/251 (HapMap)
T=0.397976/6670 (TOMMO)
C=0.401235/65 (SGDP_PRJ)
T=0.404762/85 (Vietnamese)
T=0.41048/752 (Korea1K)
C=0.416667/5 (Siberian)
T=0.425205/1245 (KOREAN)
HGVS:: NC_000005.10:g.180831750C>G, NC_000005.10:g.180831750C>T, NC_000005.9:g.180258750C>G, NC_000005.9:g.180258750C>T, NR_027183.2:n.288C>G, NR_027183.2:n.288C>T

Select item 9367093.

rs936709 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 5:180831495 (GRCh38)
5:180258495 (GRCh37)
Canonical SPDI:: NC_000005.10:180831494:G:A,NC_000005.10:180831494:G:C,NC_000005.10:180831494:G:T
Gene:: ZFP62 (Varview), LINC00847 (Varview), HEIH (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.027929/473 (ALFA)
C=0.025/1 (GENOME_DK)
C=0.03/18 (NorthernSweden)
C=0.034884/156 (Estonian)
C=0.042611/158 (TWINSUK)
C=0.045608/81 (Korea1K)
C=0.046445/179 (ALSPAC)
C=0.051748/151 (KOREAN)
C=0.063112/1057 (TOMMO)
C=0.101852/22 (Qatari)
C=0.117972/31226 (TOPMED)
C=0.129919/651 (1000Genomes)
G=0.375/3 (Siberian)
G=0.4375/42 (SGDP_PRJ)
HGVS:: NC_000005.10:g.180831495G>A, NC_000005.10:g.180831495G>C, NC_000005.10:g.180831495G>T, NC_000005.9:g.180258495G>A, NC_000005.9:g.180258495G>C, NC_000005.9:g.180258495G>T, XR_007058622.1:n.124C>T, XR_007058622.1:n.124C>G, XR_007058622.1:n.124C>A, XR_007058623.1:n.124C>T, XR_007058623.1:n.124C>G, XR_007058623.1:n.124C>A, NR_045680.1:n.124C>T, NR_045680.1:n.124C>G, NR_045680.1:n.124C>A

Select item 10770704.

rs1077070 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:180829591 (GRCh38)
5:180256591 (GRCh37)
Canonical SPDI:: NC_000005.10:180829590:A:G
Gene:: ZFP62 (Varview), LINC00847 (Varview), HEIH (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,500B_downstream_variant,upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.033933/641 (ALFA)
G=0.019651/36 (Korea1K)
G=0.021903/64 (KOREAN)
G=0.023148/5 (Qatari)
G=0.023364/5 (Vietnamese)
G=0.025/1 (GENOME_DK)
G=0.028333/17 (NorthernSweden)
G=0.029166/7720 (TOPMED)
G=0.032037/4493 (GnomAD)
G=0.03238/543 (TOMMO)
G=0.034375/154 (Estonian)
G=0.035915/180 (1000Genomes)
G=0.040723/151 (TWINSUK)
G=0.044888/173 (ALSPAC)
G=0.049098/49 (GoNL)
A=0.472222/17 (SGDP_PRJ)
A=0.5/3 (Siberian)
HGVS:: NC_000005.10:g.180829591A>G, NC_000005.9:g.180256591A>G, XR_007058622.1:n.2028T>C

Select item 10779175.

rs1077917 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 5:180830492 (GRCh38)
5:180257492 (GRCh37)
Canonical SPDI:: NC_000005.10:180830491:G:A,NC_000005.10:180830491:G:C
Gene:: ZFP62 (Varview), LINC00847 (Varview), HEIH (Varview)
Functional Consequence:: genic_downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.013135/241 (ALFA)
A=0.019651/36 (Korea1K)
A=0.021903/64 (KOREAN)
A=0.023148/5 (Qatari)
A=0.023364/5 (Vietnamese)
A=0.025/1 (GENOME_DK)
A=0.028333/17 (NorthernSweden)
A=0.030578/510 (TOMMO)
A=0.031006/8207 (TOPMED)
A=0.034167/153 (Estonian)
A=0.035603/228 (1000Genomes)
A=0.049098/49 (GoNL)
G=0.472222/17 (SGDP_PRJ)
G=0.5/3 (Siberian)
HGVS:: NC_000005.10:g.180830492G>A, NC_000005.10:g.180830492G>C, NC_000005.9:g.180257492G>A, NC_000005.9:g.180257492G>C, XR_007058622.1:n.1127C>T, XR_007058622.1:n.1127C>G, XR_007058623.1:n.1127C>T, XR_007058623.1:n.1127C>G, NR_045680.1:n.1127C>T, NR_045680.1:n.1127C>G

Select item 18721816.

rs1872181 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 5:180831114 (GRCh38)
5:180258114 (GRCh37)
Canonical SPDI:: NC_000005.10:180831113:T:A,NC_000005.10:180831113:T:G
Gene:: ZFP62 (Varview), LINC00847 (Varview), HEIH (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00972/164 (ALFA)
A=0.025/1 (GENOME_DK)
A=0.02833/17 (NorthernSweden)
A=0.0375/168 (Estonian)
A=0.04585/84 (Korea1K)
A=0.0463/10 (Qatari)
A=0.05178/151 (KOREAN)
A=0.06497/1089 (TOMMO)
A=0.08307/416 (1000Genomes)
T=0.375/3 (Siberian)
T=0.45238/38 (SGDP_PRJ)
HGVS:: NC_000005.10:g.180831114T>A, NC_000005.10:g.180831114T>G, NC_000005.9:g.180258114T>A, NC_000005.9:g.180258114T>G, NR_027183.2:n.158T>A, NR_027183.2:n.158T>G, XR_007058622.1:n.505A>T, XR_007058622.1:n.505A>C, NR_045679.1:n.158T>A, NR_045679.1:n.158T>G, NR_045678.1:n.158T>A, NR_045678.1:n.158T>G, XR_007058623.1:n.505A>T, XR_007058623.1:n.505A>C, NR_045680.1:n.505A>T, NR_045680.1:n.505A>C

Select item 18721827.

rs1872182 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 5:180831113 (GRCh38)
5:180258113 (GRCh37)
Canonical SPDI:: NC_000005.10:180831112:C:A,NC_000005.10:180831112:C:G,NC_000005.10:180831112:C:T
Gene:: ZFP62 (Varview), LINC00847 (Varview), HEIH (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.025/1 (GENOME_DK)
T=0.028333/17 (NorthernSweden)
T=0.0375/168 (Estonian)
T=0.045852/84 (Korea1K)
T=0.046296/10 (Qatari)
T=0.051748/151 (KOREAN)
T=0.064973/1089 (TOMMO)
T=0.069421/18375 (TOPMED)
T=0.083073/416 (1000Genomes)
T=0.08436/6639 (PAGE_STUDY)
C=0.375/3 (Siberian)
C=0.452381/38 (SGDP_PRJ)
HGVS:: NC_000005.10:g.180831113C>A, NC_000005.10:g.180831113C>G, NC_000005.10:g.180831113C>T, NC_000005.9:g.180258113C>A, NC_000005.9:g.180258113C>G, NC_000005.9:g.180258113C>T, NR_027183.2:n.157C>A, NR_027183.2:n.157C>G, NR_027183.2:n.157C>T, XR_007058622.1:n.506G>T, XR_007058622.1:n.506G>C, XR_007058622.1:n.506G>A, NR_045679.1:n.157C>A, NR_045679.1:n.157C>G, NR_045679.1:n.157C>T, NR_045678.1:n.157C>A, NR_045678.1:n.157C>G, NR_045678.1:n.157C>T, XR_007058623.1:n.506G>T, XR_007058623.1:n.506G>C, XR_007058623.1:n.506G>A, NR_045680.1:n.506G>T, NR_045680.1:n.506G>C, NR_045680.1:n.506G>A

Select item 20868208.

rs2086820 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 5:180830407 (GRCh38)
5:180257407 (GRCh37)
Canonical SPDI:: NC_000005.10:180830406:C:A,NC_000005.10:180830406:C:T
Gene:: ZFP62 (Varview), LINC00847 (Varview), HEIH (Varview)
Functional Consequence:: genic_downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.180830407C>A, NC_000005.10:g.180830407C>T, NC_000005.9:g.180257407C>A, NC_000005.9:g.180257407C>T, XR_007058622.1:n.1212G>T, XR_007058622.1:n.1212G>A, XR_007058623.1:n.1212G>T, XR_007058623.1:n.1212G>A, NR_045680.1:n.1212G>T, NR_045680.1:n.1212G>A

Select item 30295389.

rs3029538 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT [Show Flanks]
Chromosome:: 5:180831427 (GRCh38)
5:180258427 (GRCh37)
Canonical SPDI:: NC_000005.10:180831415:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000005.10:180831415:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000005.10:180831415:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:180831415:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:180831415:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:180831415:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:180831415:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT
Gene:: ZFP62 (Varview), LINC00847 (Varview), HEIH (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
TTT=0.025/1 (GENOME_DK)
TTT=0.05529/205 (TWINSUK)
TTT=0.07628/294 (ALSPAC)
HGVS:: NC_000005.10:g.180831427_180831428del, NC_000005.10:g.180831428del, NC_000005.10:g.180831428dup, NC_000005.10:g.180831427_180831428dup, NC_000005.10:g.180831426_180831428dup, NC_000005.10:g.180831425_180831428dup, NC_000005.10:g.180831424_180831428dup, NC_000005.9:g.180258427_180258428del, NC_000005.9:g.180258428del, NC_000005.9:g.180258428dup, NC_000005.9:g.180258427_180258428dup, NC_000005.9:g.180258426_180258428dup, NC_000005.9:g.180258425_180258428dup, NC_000005.9:g.180258424_180258428dup, XR_007058622.1:n.202_203del, XR_007058622.1:n.203del, XR_007058622.1:n.203dup, XR_007058622.1:n.202_203dup, XR_007058622.1:n.201_203dup, XR_007058622.1:n.200_203dup, XR_007058622.1:n.199_203dup, XR_007058623.1:n.202_203del, XR_007058623.1:n.203del, XR_007058623.1:n.203dup, XR_007058623.1:n.202_203dup, XR_007058623.1:n.201_203dup, XR_007058623.1:n.200_203dup, XR_007058623.1:n.199_203dup, NR_045680.1:n.202_203del, NR_045680.1:n.203del, NR_045680.1:n.203dup, NR_045680.1:n.202_203dup, NR_045680.1:n.201_203dup, NR_045680.1:n.200_203dup, NR_045680.1:n.199_203dup

Select item 614938110.

rs6149381 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 5:180830825 (GRCh38)
5:180257825 (GRCh37)
Canonical SPDI:: NC_000005.10:180830824:C:G,NC_000005.10:180830824:C:T
Gene:: ZFP62 (Varview), LINC00847 (Varview), HEIH (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.180830825C>G, NC_000005.10:g.180830825C>T, NC_000005.9:g.180257825C>G, NC_000005.9:g.180257825C>T, XR_007058622.1:n.794G>C, XR_007058622.1:n.794G>A, XR_007058623.1:n.794G>C, XR_007058623.1:n.794G>A, NR_045680.1:n.794G>C, NR_045680.1:n.794G>A

Select item 689748411.

rs6897484 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 5:180831933 (GRCh38)
5:180258933 (GRCh37)
Canonical SPDI:: NC_000005.10:180831932:T:A,NC_000005.10:180831932:T:C,NC_000005.10:180831932:T:G
Gene:: ZFP62 (Varview), LINC00847 (Varview), HEIH (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant,intron_variant,genic_downstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.212621/2992 (ALFA)
G=0./0 (KOREAN)
T=0.1/4 (GENOME_DK)
T=0.125/7 (Siberian)
T=0.129241/579 (Estonian)
T=0.130841/28 (Vietnamese)
T=0.1381/253 (Korea1K)
T=0.14/84 (NorthernSweden)
T=0.150755/559 (TWINSUK)
T=0.154645/596 (ALSPAC)
T=0.163604/2742 (TOMMO)
T=0.177355/177 (GoNL)
T=0.180077/94 (SGDP_PRJ)
T=0.194444/42 (Qatari)
T=0.23694/33165 (GnomAD)
T=0.244849/64809 (TOPMED)
T=0.262804/1316 (1000Genomes)
T=0.278933/21952 (PAGE_STUDY)
HGVS:: NC_000005.10:g.180831933T>A, NC_000005.10:g.180831933T>C, NC_000005.10:g.180831933T>G, NC_000005.9:g.180258933T>A, NC_000005.9:g.180258933T>C, NC_000005.9:g.180258933T>G, NR_027183.2:n.471T>A, NR_027183.2:n.471T>C, NR_027183.2:n.471T>G, NR_045678.1:n.448T>A, NR_045678.1:n.448T>C, NR_045678.1:n.448T>G

Select item 1006315112.

rs10063151 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:180831810 (GRCh38)
5:180258810 (GRCh37)
Canonical SPDI:: NC_000005.10:180831809:G:A
Gene:: ZFP62 (Varview), LINC00847 (Varview), HEIH (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.002898/46 (ALFA)
A=0.00303/425 (GnomAD)
A=0.003067/1 (HapMap)
A=0.003177/841 (TOPMED)
A=0.003904/20 (1000Genomes)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000005.10:g.180831810G>A, NC_000005.9:g.180258810G>A, NR_027183.2:n.348G>A, NR_045678.1:n.325G>A

Select item 1265388913.

rs12653889 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 5:180831502 (GRCh38)
5:180258502 (GRCh37)
Canonical SPDI:: NC_000005.10:180831501:C:A
Gene:: ZFP62 (Varview), LINC00847 (Varview), HEIH (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by cluster
HGVS:: NC_000005.10:g.180831502C>A, NC_000005.9:g.180258502C>A, XR_007058622.1:n.117G>T, XR_007058623.1:n.117G>T, NR_045680.1:n.117G>T

Select item 1265647914.

rs12656479 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 5:180831508 (GRCh38)
5:180258508 (GRCh37)
Canonical SPDI:: NC_000005.10:180831507:T:A,NC_000005.10:180831507:T:G
Gene:: ZFP62 (Varview), LINC00847 (Varview), HEIH (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000057/8 (GnomAD)
HGVS:: NC_000005.10:g.180831508T>A, NC_000005.10:g.180831508T>G, NC_000005.9:g.180258508T>A, NC_000005.9:g.180258508T>G, XR_007058622.1:n.111A>T, XR_007058622.1:n.111A>C, XR_007058623.1:n.111A>T, XR_007058623.1:n.111A>C, NR_045680.1:n.111A>T, NR_045680.1:n.111A>C

Select item 3410980415.

rs34109804 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 5:180833472 (GRCh38)
5:180260472 (GRCh37)
Canonical SPDI:: NC_000005.10:180833469:CTCT:CT
Gene:: ZFP62 (Varview), LINC00847 (Varview), HEIH (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCT=0.100418/1635 (ALFA)
-=0.004388/74 (TOMMO)
-=0.011463/21 (Korea1K)
-=0.05/2 (GENOME_DK)
-=0.079225/45 (NorthernSweden)
-=0.086196/432 (1000Genomes)
-=0.096709/429 (Estonian)
-=0.103909/13190 (GnomAD)
-=0.12028/446 (TWINSUK)
-=0.123508/476 (ALSPAC)
HGVS:: NC_000005.10:g.180833470CT[1], NC_000005.9:g.180260470CT[1]

Select item 3510107816.

rs35101078 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGAA>- [Show Flanks]
Chromosome:: 5:180829554 (GRCh38)
5:180256554 (GRCh37)
Canonical SPDI:: NC_000005.10:180829549:AGAAAGAA:AGAA
Gene:: ZFP62 (Varview), LINC00847 (Varview), HEIH (Varview)
Functional Consequence:: downstream_transcript_variant,upstream_transcript_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,500B_downstream_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAAAGAA=0.004982/70 (ALFA)
-=0./0 (ALSPAC)
-=0.00027/1 (TWINSUK)
-=0.004176/70 (TOMMO)
-=0.006081/853 (GnomAD)
-=0.006725/1780 (TOPMED)
-=0.007183/36 (1000Genomes)
-=0.007642/14 (Korea1K)
-=0.013889/3 (Vietnamese)
HGVS:: NC_000005.10:g.180829550AGAA[1], NC_000005.9:g.180256550AGAA[1], XR_007058622.1:n.2062TTCT[1]

Select item 3512687417.

rs35126874 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCAG>- [Show Flanks]
Chromosome:: 5:180833000 (GRCh38)
5:180260000 (GRCh37)
Canonical SPDI:: NC_000005.10:180832996:CAGTCAG:CAG
Gene:: ZFP62 (Varview), LINC00847 (Varview), HEIH (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CAG=0.006406/90 (ALFA)
-=0.008009/1123 (GnomAD)
-=0.008289/2194 (TOPMED)
-=0.011711/59 (1000Genomes)
HGVS:: NC_000005.10:g.180833000_180833003del, NC_000005.9:g.180260000_180260003del

Select item 3561210818.

rs35612108 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 5:180832599 (GRCh38)
5:180259600 (GRCh37)
Canonical SPDI:: NC_000005.10:180832599::C
Gene:: ZFP62 (Varview), LINC00847 (Varview), HEIH (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant,intron_variant
HGVS:: NC_000005.10:g.180832599_180832600insC, NC_000005.9:g.180259599_180259600insC

Select item 5601204519.

rs56012045 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:180832037 (GRCh38)
5:180259037 (GRCh37)
Canonical SPDI:: NC_000005.10:180832036:T:C
Gene:: ZFP62 (Varview), LINC00847 (Varview), HEIH (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant,intron_variant
HGVS:: NC_000005.10:g.180832037T>C, NC_000005.9:g.180259037T>C

Select item 5722609120.

rs57226091 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:180831021 (GRCh38)
5:180258021 (GRCh37)
Canonical SPDI:: NC_000005.10:180831020:A:G
Gene:: ZFP62 (Varview), LINC00847 (Varview), HEIH (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.043152/828 (ALFA)
G=0.001816/7 (ALSPAC)
G=0.001888/7 (TWINSUK)
G=0.002004/2 (GoNL)
G=0.003348/15 (Estonian)
G=0.018519/4 (Vietnamese)
G=0.025683/47 (Korea1K)
G=0.030479/89 (KOREAN)
G=0.032628/547 (TOMMO)
G=0.060185/13 (Qatari)
G=0.075805/10628 (GnomAD)
G=0.079572/21062 (TOPMED)
G=0.085415/428 (1000Genomes)
A=0.421875/27 (SGDP_PRJ)
A=0.5/2 (Siberian)
HGVS:: NC_000005.10:g.180831021A>G, NC_000005.9:g.180258021A>G, NR_027183.2:n.65A>G, XR_007058622.1:n.598T>C, NR_045679.1:n.65A>G, NR_045678.1:n.65A>G, XR_007058623.1:n.598T>C, NR_045680.1:n.598T>C

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