ZHX1-C8ORF76 - SNP

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Select item 9215711.

rs921571 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 8:123237227 (GRCh38)
8:124249467 (GRCh37)
Canonical SPDI:: NC_000008.11:123237226:C:G,NC_000008.11:123237226:C:T
Gene:: C8orf76 (Varview), ZHX1-C8orf76 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: G=0./0 (HapMap)
T=0.0003/2 (1000Genomes)
HGVS:: NC_000008.11:g.123237227C>G, NC_000008.11:g.123237227C>T, NC_000008.10:g.124249467C>G, NC_000008.10:g.124249467C>T, NG_010950.2:g.515C>G, NG_010950.2:g.515C>T

Select item 9389662.

rs938966 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 8:123240569 (GRCh38)
8:124252809 (GRCh37)
Canonical SPDI:: NC_000008.11:123240568:T:A,NC_000008.11:123240568:T:C,NC_000008.11:123240568:T:G
Gene:: C8orf76 (Varview), ZHX1-C8orf76 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.158293/10094 (ALFA)
C=0./0 (KOREAN)
T=0.051887/11 (Vietnamese)
T=0.054585/100 (Korea1K)
T=0.055524/931 (TOMMO)
T=0.075/3 (GENOME_DK)
T=0.086243/163 (HapMap)
T=0.089007/446 (1000Genomes)
T=0.098513/53 (SGDP_PRJ)
T=0.107143/6 (Siberian)
T=0.123095/32582 (TOPMED)
T=0.126706/17767 (GnomAD)
T=0.156696/702 (Estonian)
T=0.158317/158 (GoNL)
T=0.182148/702 (ALSPAC)
T=0.183333/110 (NorthernSweden)
T=0.185275/687 (TWINSUK)
T=0.25/54 (Qatari)
HGVS:: NC_000008.11:g.123240569T>A, NC_000008.11:g.123240569T>C, NC_000008.11:g.123240569T>G, NC_000008.10:g.124252809T>A, NC_000008.10:g.124252809T>C, NC_000008.10:g.124252809T>G

Select item 10447143.

rs1044714 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:123252687 (GRCh38)
8:124264927 (GRCh37)
Canonical SPDI:: NC_000008.11:123252686:T:C
Gene:: ZHX1 (Varview), ZHX1-C8orf76 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.230104/33874 (ALFA)
C=0.055556/12 (Vietnamese)
C=0.15907/2666 (TOMMO)
C=0.159822/467 (KOREAN)
C=0.160657/303 (HapMap)
C=0.161618/809 (1000Genomes)
C=0.165939/304 (Korea1K)
C=0.178725/14066 (PAGE_STUDY)
C=0.206774/54731 (TOPMED)
C=0.207735/29092 (GnomAD)
C=0.208333/45 (Qatari)
C=0.213333/128 (NorthernSweden)
C=0.226518/873 (ALSPAC)
C=0.237864/882 (TWINSUK)
C=0.244409/153 (Chileans)
C=0.247545/1109 (Estonian)
C=0.25/10 (GENOME_DK)
C=0.250501/250 (GoNL)
T=0.375/12 (Siberian)
T=0.431373/88 (SGDP_PRJ)
HGVS:: NC_000008.11:g.123252687T>C, NC_000008.10:g.124264927T>C

Select item 13772314.

rs1377231 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 8:123242889 (GRCh38)
8:124255129 (GRCh37)
Canonical SPDI:: NC_000008.11:123242888:C:A
Gene:: C8orf76 (Varview), ZHX1-C8orf76 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
HGVS:: NC_000008.11:g.123242889C>A, NC_000008.10:g.124255129C>A

Select item 13772325.

rs1377232 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:123242971 (GRCh38)
8:124255211 (GRCh37)
Canonical SPDI:: NC_000008.11:123242970:C:T
Gene:: C8orf76 (Varview), ZHX1-C8orf76 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
HGVS:: NC_000008.11:g.123242971C>T, NC_000008.10:g.124255211C>T

Select item 16701776.

rs1670177 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 8:123251961 (GRCh38)
8:124264201 (GRCh37)
Canonical SPDI:: NC_000008.11:123251960:T:A,NC_000008.11:123251960:T:C
Gene:: ZHX1 (Varview), ZHX1-C8orf76 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.278936/84834 (ALFA)
C=0./0 (PRJEB36033)
C=0.128406/10066 (PAGE_STUDY)
C=0.131078/2197 (TOMMO)
C=0.140187/30 (Vietnamese)
C=0.190785/559 (KOREAN)
C=0.191781/308 (HapMap)
C=0.193231/354 (Korea1K)
C=0.195034/977 (1000Genomes)
C=0.200113/52968 (TOPMED)
C=0.209432/29328 (GnomAD)
C=0.209894/437 (HGDP_Stanford)
C=0.237913/187 (PRJEB37584)
C=0.249554/1118 (Estonian)
C=0.25/10 (GENOME_DK)
C=0.258333/155 (NorthernSweden)
C=0.279599/57339 (GENOGRAPHIC)
C=0.279935/1038 (TWINSUK)
C=0.280561/280 (GoNL)
C=0.289569/1116 (ALSPAC)
C=0.314815/68 (Qatari)
T=0.423077/77 (SGDP_PRJ)
T=0.45/9 (Siberian)
HGVS:: NC_000008.11:g.123251961T>A, NC_000008.11:g.123251961T>C, NC_000008.10:g.124264201T>A, NC_000008.10:g.124264201T>C

Select item 17137317.

rs1713731 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 8:123262421 (GRCh38)
8:124274661 (GRCh37)
Canonical SPDI:: NC_000008.11:123262420:A:C,NC_000008.11:123262420:A:G,NC_000008.11:123262420:A:T
Gene:: ZHX1 (Varview), ZHX1-C8orf76 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.096657/17765 (ALFA)
T=0./0 (KOREAN)
A=0./0 (Korea1K)
A=0./0 (Vietnamese)
A=0.000071/1 (TOMMO)
A=0.017857/1 (Siberian)
A=0.025/1 (GENOME_DK)
A=0.026077/131 (1000Genomes)
A=0.037906/21 (SGDP_PRJ)
A=0.048726/65 (HapMap)
A=0.049424/103 (HGDP_Stanford)
A=0.06409/16964 (TOPMED)
A=0.069776/9787 (GnomAD)
A=0.075704/86 (Daghestan)
A=0.094447/364 (ALSPAC)
A=0.098196/98 (GoNL)
A=0.103571/464 (Estonian)
A=0.107335/398 (TWINSUK)
A=0.125/75 (NorthernSweden)
A=0.2/2 (PRJEB36033)
A=0.208333/45 (Qatari)
HGVS:: NC_000008.11:g.123262421A>C, NC_000008.11:g.123262421A>G, NC_000008.11:g.123262421A>T, NC_000008.10:g.124274661A>C, NC_000008.10:g.124274661A>G, NC_000008.10:g.124274661A>T

Select item 17137398.

rs1713739 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:123232123 (GRCh38)
8:124244363 (GRCh37)
Canonical SPDI:: NC_000008.11:123232122:C:T
Gene:: C8orf76 (Varview), ZHX1-C8orf76 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000008.11:g.123232123C>T, NC_000008.10:g.124244363C>T

Select item 18692489.

rs1869248 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 8:123248746 (GRCh38)
8:124260986 (GRCh37)
Canonical SPDI:: NC_000008.11:123248745:T:A,NC_000008.11:123248745:T:C,NC_000008.11:123248745:T:G
Gene:: ZHX1 (Varview), ZHX1-C8orf76 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00416/110 (ALFA)
A=0.00004/1 (TOMMO)
G=0.00375/2 (MGP)
G=0.01389/3 (Qatari)
G=0.02327/117 (1000Genomes)
G=0.02823/31 (HapMap)
T=0.4/4 (SGDP_PRJ)
HGVS:: NC_000008.11:g.123248746T>A, NC_000008.11:g.123248746T>C, NC_000008.11:g.123248746T>G, NC_000008.10:g.124260986T>A, NC_000008.10:g.124260986T>C, NC_000008.10:g.124260986T>G, NM_007222.5:c.*1578A>T, NM_007222.5:c.*1578A>G, NM_007222.5:c.*1578A>C, NM_007222.4:c.*1578A>T, NM_007222.4:c.*1578A>G, NM_007222.4:c.*1578A>C, NM_001017926.3:c.*1578A>T, NM_001017926.3:c.*1578A>G, NM_001017926.3:c.*1578A>C, NM_001017926.2:c.*1578A>T, NM_001017926.2:c.*1578A>G, NM_001017926.2:c.*1578A>C, NR_037873.2:n.4741A>T, NR_037873.2:n.4741A>G, NR_037873.2:n.4741A>C, NR_037873.1:n.4741A>T, NR_037873.1:n.4741A>G, NR_037873.1:n.4741A>C, NR_037874.2:n.1854A>T, NR_037874.2:n.1854A>G, NR_037874.2:n.1854A>C, NR_037874.1:n.2055A>T, NR_037874.1:n.2055A>G, NR_037874.1:n.2055A>C

Select item 307843210.

rs3078432 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TATT [Show Flanks]
Chromosome:: 8:123248599 (GRCh38)
8:124260840 (GRCh37)
Canonical SPDI:: NC_000008.11:123248599:ATT:ATTTATT
Gene:: ZHX1 (Varview), ZHX1-C8orf76 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATTTATT=0.052521/623 (ALFA)
ATTT=0.00027/1 (TWINSUK)
ATTT=0.000519/2 (ALSPAC)
ATTT=0.063982/8964 (GnomAD)
ATTT=0.066259/17538 (TOPMED)
ATTT=0.068395/343 (1000Genomes)
HGVS:: NC_000008.11:g.123248602_123248603insTATT, NC_000008.10:g.124260842_124260843insTATT, NM_007222.5:c.*1724_*1725insAAAT, NM_007222.4:c.*1724_*1725insAAAT, NM_001017926.3:c.*1724_*1725insAAAT, NM_001017926.2:c.*1724_*1725insAAAT, NR_037873.2:n.4887_4888insAAAT, NR_037873.1:n.4887_4888insAAAT, NR_037874.2:n.2000_2001insAAAT, NR_037874.1:n.2201_2202insAAAT

Select item 310719511.

rs3107195 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:123241745 (GRCh38)
8:124253985 (GRCh37)
Canonical SPDI:: NC_000008.11:123241744:G:A
Gene:: C8orf76 (Varview), ZHX1-C8orf76 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.009529/180 (ALFA)
A=0.00406/20 (1000Genomes)
A=0.00463/1 (Qatari)
A=0.005/3 (NorthernSweden)
A=0.006993/1851 (TOPMED)
A=0.007521/1054 (GnomAD)
A=0.007525/29 (ALSPAC)
A=0.009598/43 (Estonian)
A=0.009709/36 (TWINSUK)
G=0.5/1 (Siberian)
HGVS:: NC_000008.11:g.123241745G>A, NC_000008.10:g.124253985G>A

Select item 310719612.

rs3107196 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:123268039 (GRCh38)
8:124280279 (GRCh37)
Canonical SPDI:: NC_000008.11:123268038:T:C
Gene:: ZHX1 (Varview), ZHX1-C8orf76 (Varview), LOC124902080 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.007348/141 (ALFA)
C=0.002342/12 (1000Genomes)
C=0.004734/1253 (TOPMED)
C=0.005/3 (NorthernSweden)
C=0.005583/782 (GnomAD)
C=0.005708/22 (ALSPAC)
C=0.007282/27 (TWINSUK)
C=0.009152/41 (Estonian)
C=0.01002/10 (GoNL)
C=0.025/1 (GENOME_DK)
HGVS:: NC_000008.11:g.123268039T>C, NC_000008.10:g.124280279T>C

Select item 310719713.

rs3107197 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:123270798 (GRCh38)
8:124283038 (GRCh37)
Canonical SPDI:: NC_000008.11:123270797:A:G
Gene:: ZHX1 (Varview), ZHX1-C8orf76 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.009423/178 (ALFA)
G=0.00406/20 (1000Genomes)
G=0.00463/1 (Qatari)
G=0.005/3 (NorthernSweden)
G=0.006906/1828 (TOPMED)
G=0.007447/1043 (GnomAD)
G=0.007784/30 (ALSPAC)
G=0.009978/37 (TWINSUK)
G=0.01503/15 (GoNL)
G=0.05/2 (GENOME_DK)
A=0.5/1 (Siberian)
HGVS:: NC_000008.11:g.123270798A>G, NC_000008.10:g.124283038A>G

Select item 321480714.

rs3214807 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA,AAAAAA [Show Flanks]
Chromosome:: 8:123231773 (GRCh38)
8:124244013 (GRCh37)
Canonical SPDI:: NC_000008.11:123231765:AAAAAAAAAA:AAAAAAA,NC_000008.11:123231765:AAAAAAAAAA:AAAAAAAA,NC_000008.11:123231765:AAAAAAAAAA:AAAAAAAAA,NC_000008.11:123231765:AAAAAAAAAA:AAAAAAAAAAA,NC_000008.11:123231765:AAAAAAAAAA:AAAAAAAAAAAA,NC_000008.11:123231765:AAAAAAAAAA:AAAAAAAAAAAAA
Gene:: C8orf76 (Varview), ZHX1-C8orf76 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
A=0.000566/9 (TOMMO)
HGVS:: NC_000008.11:g.123231773_123231775del, NC_000008.11:g.123231774_123231775del, NC_000008.11:g.123231775del, NC_000008.11:g.123231775dup, NC_000008.11:g.123231774_123231775dup, NC_000008.11:g.123231773_123231775dup, NC_000008.10:g.124244013_124244015del, NC_000008.10:g.124244014_124244015del, NC_000008.10:g.124244015del, NC_000008.10:g.124244015dup, NC_000008.10:g.124244014_124244015dup, NC_000008.10:g.124244013_124244015dup

Select item 487135315.

rs4871353 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 8:123241611 (GRCh38)
8:124253851 (GRCh37)
Canonical SPDI:: NC_000008.11:123241610:C:A
Gene:: C8orf76 (Varview), ZHX1-C8orf76 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.109439/8506 (ALFA)
A=0.000553/1 (Korea1K)
A=0.049188/246 (1000Genomes)
A=0.052303/109 (HGDP_Stanford)
A=0.064815/14 (Qatari)
A=0.074187/73 (HapMap)
A=0.078571/352 (Estonian)
A=0.079444/21028 (TOPMED)
A=0.085219/11944 (GnomAD)
A=0.101667/61 (NorthernSweden)
A=0.125/5 (GENOME_DK)
A=0.12766/492 (ALSPAC)
A=0.12891/478 (TWINSUK)
A=0.141975/161 (Daghestan)
A=0.153846/8 (PRJEB36033)
C=0.416667/15 (SGDP_PRJ)
C=0.5/3 (Siberian)
HGVS:: NC_000008.11:g.123241611C>A, NC_000008.10:g.124253851C>A

Select item 487135416.

rs4871354 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 8:123270022 (GRCh38)
8:124282262 (GRCh37)
Canonical SPDI:: NC_000008.11:123270021:T:C,NC_000008.11:123270021:T:G
Gene:: ZHX1 (Varview), ZHX1-C8orf76 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0./0 (HapMap)
C=0.000004/1 (TOPMED)
C=0.000035/1 (TOMMO)
HGVS:: NC_000008.11:g.123270022T>C, NC_000008.11:g.123270022T>G, NC_000008.10:g.124282262T>C, NC_000008.10:g.124282262T>G

Select item 500134817.

rs5001348 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 8:123238933 (GRCh38)
8:124251173 (GRCh37)
Canonical SPDI:: NC_000008.11:123238932:C:A
Gene:: C8orf76 (Varview), ZHX1-C8orf76 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.016444/261 (ALFA)
A=0.003745/2 (MGP)
A=0.013889/3 (Qatari)
A=0.018738/94 (1000Genomes)
A=0.019302/2705 (GnomAD)
A=0.020099/5320 (TOPMED)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000008.11:g.123238933C>A, NC_000008.10:g.124251173C>A

Select item 502287418.

rs5022874 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:123249700 (GRCh38)
8:124261940 (GRCh37)
Canonical SPDI:: NC_000008.11:123249699:G:A
Gene:: ZHX1 (Varview), ZHX1-C8orf76 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant,non_coding_transcript_variant
HGVS:: NC_000008.11:g.123249700G>A, NC_000008.10:g.124261940G>A, NM_007222.5:c.*624C>T, NM_007222.4:c.*624C>T, NM_001017926.3:c.*624C>T, NM_001017926.2:c.*624C>T, NR_037873.2:n.3787C>T, NR_037873.1:n.3787C>T, NR_037874.2:n.900C>T, NR_037874.1:n.1101C>T

Select item 589465719.

rs5894657 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,AAA,AAAA,AAAAAA [Show Flanks]
Chromosome:: 8:123248819 (GRCh38)
8:124261059 (GRCh37)
Canonical SPDI:: NC_000008.11:123248812:AAAAAAAAAAA:AAAAAA,NC_000008.11:123248812:AAAAAAAAAAA:AAAAAAAAA,NC_000008.11:123248812:AAAAAAAAAAA:AAAAAAAAAA,NC_000008.11:123248812:AAAAAAAAAAA:AAAAAAAAAAAA
Gene:: ZHX1 (Varview), ZHX1-C8orf76 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
-=0.11681/585 (1000Genomes)
HGVS:: NC_000008.11:g.123248819_123248823del, NC_000008.11:g.123248822_123248823del, NC_000008.11:g.123248823del, NC_000008.11:g.123248823dup, NC_000008.10:g.124261059_124261063del, NC_000008.10:g.124261062_124261063del, NC_000008.10:g.124261063del, NC_000008.10:g.124261063dup, NM_007222.5:c.*1507_*1511del, NM_007222.5:c.*1510_*1511del, NM_007222.5:c.*1511del, NM_007222.5:c.*1511dup, NM_007222.4:c.*1507_*1511del, NM_007222.4:c.*1510_*1511del, NM_007222.4:c.*1511del, NM_007222.4:c.*1511dup, NM_001017926.3:c.*1507_*1511del, NM_001017926.3:c.*1510_*1511del, NM_001017926.3:c.*1511del, NM_001017926.3:c.*1511dup, NM_001017926.2:c.*1507_*1511del, NM_001017926.2:c.*1510_*1511del, NM_001017926.2:c.*1511del, NM_001017926.2:c.*1511dup, NR_037873.2:n.4670_4674del, NR_037873.2:n.4673_4674del, NR_037873.2:n.4674del, NR_037873.2:n.4674dup, NR_037873.1:n.4670_4674del, NR_037873.1:n.4673_4674del, NR_037873.1:n.4674del, NR_037873.1:n.4674dup, NR_037874.2:n.1783_1787del, NR_037874.2:n.1786_1787del, NR_037874.2:n.1787del, NR_037874.2:n.1787dup, NR_037874.1:n.1984_1988del, NR_037874.1:n.1987_1988del, NR_037874.1:n.1988del, NR_037874.1:n.1988dup

Select item 698943720.

rs6989437 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 8:123271225 (GRCh38)
8:124283465 (GRCh37)
Canonical SPDI:: NC_000008.11:123271224:C:A
Gene:: ZHX1 (Varview), ZHX1-C8orf76 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.082317/1822 (ALFA)
A=0.001667/1 (NorthernSweden)
A=0.00692/31 (Estonian)
A=0.008822/34 (ALSPAC)
A=0.010248/38 (TWINSUK)
A=0.01503/15 (GoNL)
A=0.025/1 (GENOME_DK)
A=0.074074/16 (Qatari)
A=0.124811/17472 (GnomAD)
A=0.13033/34497 (TOPMED)
A=0.132573/664 (1000Genomes)
A=0.203514/278 (HapMap)
C=0.327586/19 (SGDP_PRJ)
C=0.5/1 (Siberian)
HGVS:: NC_000008.11:g.123271225C>A, NC_000008.10:g.124283465C>A

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