MIR510 - SNP

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Select item 14473921.

rs1447392 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:147272242 (GRCh38)
X:146353760 (GRCh37)
Canonical SPDI:: NC_000023.11:147272241:G:C
Gene:: MIR510 (Varview), LOC105373347 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.004484/63 (ALFA)
C=0./0 (HapMap)
G=0./0 (SGDP_PRJ)
C=0.003538/13 (1000Genomes)
C=0.005774/601 (GnomAD)
C=0.006646/1759 (TOPMED)
C=0.009259/1 (Qatari)
HGVS:: NC_000023.11:g.147272242G>C, NC_000023.10:g.146353760G>C, NW_004070890.2:g.2796633G>C

Select item 14473932.

rs1447393 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: X:147272022 (GRCh38)
X:146353540 (GRCh37)
Canonical SPDI:: NC_000023.11:147272021:C:A,NC_000023.11:147272021:C:G,NC_000023.11:147272021:C:T
Gene:: MIR510 (Varview), LOC105373347 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.0071/101 (ALFA)
G=0.017307/50 (ALSPAC)
G=0.019957/74 (TWINSUK)
G=0.12037/13 (Qatari)
G=0.163462/476 (KOREAN)
G=0.167653/44376 (TOPMED)
G=0.182518/689 (1000Genomes)
G=0.184393/2363 (TOMMO)
C=0.2/22 (SGDP_PRJ)
HGVS:: NC_000023.11:g.147272022C>A, NC_000023.11:g.147272022C>G, NC_000023.11:g.147272022C>T, NC_000023.10:g.146353540C>A, NC_000023.10:g.146353540C>G, NC_000023.10:g.146353540C>T, NW_004070890.2:g.2796413C>A, NW_004070890.2:g.2796413C>G, NW_004070890.2:g.2796413C>T

Select item 14473943.

rs1447394 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:147271971 (GRCh38)
X:146353489 (GRCh37)
Canonical SPDI:: NC_000023.11:147271970:G:T
Gene:: MIR510 (Varview), LOC105373347 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.092613/1715 (ALFA)
T=0.017307/50 (ALSPAC)
T=0.019957/74 (TWINSUK)
T=0.05/2 (GENOME_DK)
T=0.12037/13 (Qatari)
T=0.140615/14193 (GnomAD)
T=0.145833/7 (Vietnamese)
T=0.164956/482 (KOREAN)
T=0.167638/44372 (TOPMED)
T=0.182726/690 (1000Genomes)
T=0.187157/2404 (TOMMO)
G=0.2/22 (SGDP_PRJ)
HGVS:: NC_000023.11:g.147271971G>T, NC_000023.10:g.146353489G>T, NW_004070890.2:g.2796362G>T

Select item 59047284.

rs5904728 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:147272507 (GRCh38)
X:146354025 (GRCh37)
Canonical SPDI:: NC_000023.11:147272506:G:A
Gene:: MIR510 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.157138/2985 (ALFA)
A=0.02809/15 (MGP)
A=0.092618/271 (KOREAN)
A=0.097062/1247 (TOMMO)
A=0.161229/16663 (GnomAD)
A=0.169955/491 (ALSPAC)
A=0.171506/45396 (TOPMED)
A=0.175/7 (GENOME_DK)
A=0.181061/684 (1000Genomes)
A=0.185275/687 (TWINSUK)
A=0.194444/21 (Qatari)
G=0.236111/34 (SGDP_PRJ)
G=0.416667/5 (Siberian)
HGVS:: NC_000023.11:g.147272507G>A, NC_000023.10:g.146354025G>A, NW_004070890.2:g.2796898G>A

Select item 59050285.

rs5905028 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: X:147272508 (GRCh38)
X:146354026 (GRCh37)
Canonical SPDI:: NC_000023.11:147272507:T:A,NC_000023.11:147272507:T:C
Gene:: MIR510 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.160686/4003 (ALFA)
C=0.052434/28 (MGP)
C=0.092618/271 (KOREAN)
C=0.161034/16669 (GnomAD)
C=0.170301/492 (ALSPAC)
C=0.17151/45397 (TOPMED)
C=0.175/7 (GENOME_DK)
C=0.181061/684 (1000Genomes)
C=0.185275/687 (TWINSUK)
C=0.194444/21 (Qatari)
T=0.236111/34 (SGDP_PRJ)
T=0.416667/5 (Siberian)
HGVS:: NC_000023.11:g.147272508T>A, NC_000023.11:g.147272508T>C, NC_000023.10:g.146354026T>A, NC_000023.10:g.146354026T>C, NW_004070890.2:g.2796899T>A, NW_004070890.2:g.2796899T>C

Select item 59050296.

rs5905029 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: X:147272668 (GRCh38)
X:146354186 (GRCh37)
Canonical SPDI:: NC_000023.11:147272667:C:G,NC_000023.11:147272667:C:T
Gene:: MIR510 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.051338/702 (ALFA)
C=0.199115/45 (SGDP_PRJ)
G=0.258362/757 (KOREAN)
G=0.275/11 (GENOME_DK)
G=0.28718/3688 (TOMMO)
G=0.291667/14 (Vietnamese)
G=0.296296/32 (Qatari)
G=0.297986/78874 (TOPMED)
G=0.329032/1242 (1000Genomes)
G=0.344184/645 (HapMap)
G=0.363636/24 (PRJEB36033)
C=0.416667/5 (Siberian)
HGVS:: NC_000023.11:g.147272668C>G, NC_000023.11:g.147272668C>T, NC_000023.10:g.146354186C>G, NC_000023.10:g.146354186C>T, NW_004070890.2:g.2797059C>G, NW_004070890.2:g.2797059C>T

Select item 59050307.

rs5905030 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:147272710 (GRCh38)
X:146354228 (GRCh37)
Canonical SPDI:: NC_000023.11:147272709:T:C
Gene:: MIR510 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.226566/4196 (ALFA)
C=0.192108/555 (ALSPAC)
T=0.196429/44 (SGDP_PRJ)
C=0.209547/777 (TWINSUK)
C=0.25888/758 (KOREAN)
C=0.262908/27028 (GnomAD)
C=0.275/11 (GENOME_DK)
C=0.283921/75151 (TOPMED)
C=0.28628/3677 (TOMMO)
C=0.287037/31 (Qatari)
C=0.291667/14 (Vietnamese)
C=0.307388/1160 (1000Genomes)
T=0.416667/5 (Siberian)
HGVS:: NC_000023.11:g.147272710T>C, NC_000023.10:g.146354228T>C, NW_004070890.2:g.2797101T>C

Select item 59050318.

rs5905031 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:147272833 (GRCh38)
X:146354351 (GRCh37)
Canonical SPDI:: NC_000023.11:147272832:C:T
Gene:: MIR510 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.168317/5577 (ALFA)
T=0.093579/274 (KOREAN)
T=0.097422/1251 (TOMMO)
T=0.104167/5 (Vietnamese)
T=0.168491/17352 (GnomAD)
T=0.174947/331 (HapMap)
T=0.175493/507 (ALSPAC)
T=0.176633/46753 (TOPMED)
T=0.18564/701 (1000Genomes)
T=0.193096/716 (TWINSUK)
T=0.194444/21 (Qatari)
T=0.225/9 (GENOME_DK)
C=0.24/36 (SGDP_PRJ)
T=0.251761/286 (Daghestan)
C=0.416667/5 (Siberian)
HGVS:: NC_000023.11:g.147272833C>T, NC_000023.10:g.146354351C>T, NW_004070890.2:g.2797224C>T

Select item 110944169.

rs11094416 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: X:147273843 (GRCh38)
X:146355361 (GRCh37)
Canonical SPDI:: NC_000023.11:147273842:A:C
Gene:: MIR510 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.177577/3342 (ALFA)
C=0.128669/377 (KOREAN)
C=0.135445/1740 (TOMMO)
C=0.170213/8 (Vietnamese)
C=0.17378/57 (HapMap)
C=0.182762/528 (ALSPAC)
C=0.183051/18885 (GnomAD)
C=0.193309/51167 (TOPMED)
C=0.202265/750 (TWINSUK)
C=0.212071/801 (1000Genomes)
C=0.225/9 (GENOME_DK)
C=0.240741/26 (Qatari)
A=0.25/39 (SGDP_PRJ)
A=0.416667/5 (Siberian)
HGVS:: NC_000023.11:g.147273843A>C, NC_000023.10:g.146355361A>C, NW_004070890.2:g.2798234A>C

Select item 1200805010.

rs12008050 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:147273223 (GRCh38)
X:146354741 (GRCh37)
Canonical SPDI:: NC_000023.11:147273222:A:G
Gene:: MIR510 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.189354/45075 (ALFA)
G=0.128757/377 (KOREAN)
G=0.133825/1719 (TOMMO)
G=0.179647/519 (ALSPAC)
G=0.180591/18663 (GnomAD)
G=0.190151/50331 (TOPMED)
G=0.19849/736 (TWINSUK)
G=0.203538/768 (1000Genomes)
G=0.215801/407 (HapMap)
G=0.222222/24 (Qatari)
G=0.225/9 (GENOME_DK)
G=0.229167/11 (Vietnamese)
A=0.25/39 (SGDP_PRJ)
G=0.25072/522 (HGDP_Stanford)
G=0.269231/14 (PRJEB36033)
A=0.416667/5 (Siberian)
HGVS:: NC_000023.11:g.147273223A>G, NC_000023.10:g.146354741A>G, NW_004070890.2:g.2797614A>G

Select item 1268786111.

rs12687861 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: X:147273506 (GRCh38)
X:146355024 (GRCh37)
Canonical SPDI:: NC_000023.11:147273505:T:G
Gene:: MIR510 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000613/13 (ALFA)
G=0./0 (ALSPAC)
G=0.00027/1 (TWINSUK)
G=0.000474/49 (GnomAD)
G=0.000627/166 (TOPMED)
G=0.001665/6 (1000Genomes)
G=0.008/6 (HapMap)
G=0.012105/155 (TOMMO)
G=0.017466/51 (KOREAN)
G=0.05/2 (GENOME_DK)
T=0.142857/2 (SGDP_PRJ)
HGVS:: NC_000023.11:g.147273506T>G, NC_000023.10:g.146355024T>G, NW_004070890.2:g.2797897T>G

Select item 1284016312.

rs12840163 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: X:147272194 (GRCh38)
X:146353712 (GRCh37)
Canonical SPDI:: NC_000023.11:147272193:T:G
Gene:: MIR510 (Varview), LOC105373347 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency
MAF:: G=0./0 (HapMap)
HGVS:: NC_000023.11:g.147272194T>G, NC_000023.10:g.146353712T>G, NW_004070890.2:g.2796585T>G

Select item 3537032513.

rs35370325 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA [Show Flanks]
Chromosome:: X:147272051 (GRCh38)
X:146353569 (GRCh37)
Canonical SPDI:: NC_000023.11:147272038:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000023.11:147272038:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000023.11:147272038:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000023.11:147272038:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000023.11:147272038:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000023.11:147272038:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000023.11:147272038:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000023.11:147272038:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000023.11:147272038:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000023.11:147272038:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:147272038:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:147272038:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:147272038:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: MIR510 (Varview), LOC105373347 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.225/9 (GENOME_DK)
-=0.25854/976 (1000Genomes)
HGVS:: NC_000023.11:g.147272051_147272052del, NC_000023.11:g.147272052del, NC_000023.11:g.147272052dup, NC_000023.11:g.147272051_147272052dup, NC_000023.11:g.147272050_147272052dup, NC_000023.11:g.147272049_147272052dup, NC_000023.11:g.147272048_147272052dup, NC_000023.11:g.147272047_147272052dup, NC_000023.11:g.147272046_147272052dup, NC_000023.11:g.147272045_147272052dup, NC_000023.11:g.147272044_147272052dup, NC_000023.11:g.147272043_147272052dup, NC_000023.11:g.147272042_147272052dup, NC_000023.10:g.146353569_146353570del, NC_000023.10:g.146353570del, NC_000023.10:g.146353570dup, NC_000023.10:g.146353569_146353570dup, NC_000023.10:g.146353568_146353570dup, NC_000023.10:g.146353567_146353570dup, NC_000023.10:g.146353566_146353570dup, NC_000023.10:g.146353565_146353570dup, NC_000023.10:g.146353564_146353570dup, NC_000023.10:g.146353563_146353570dup, NC_000023.10:g.146353562_146353570dup, NC_000023.10:g.146353561_146353570dup, NC_000023.10:g.146353560_146353570dup, NW_004070890.2:g.2796442_2796443del, NW_004070890.2:g.2796443del, NW_004070890.2:g.2796443dup, NW_004070890.2:g.2796442_2796443dup, NW_004070890.2:g.2796441_2796443dup, NW_004070890.2:g.2796440_2796443dup, NW_004070890.2:g.2796439_2796443dup, NW_004070890.2:g.2796438_2796443dup, NW_004070890.2:g.2796437_2796443dup, NW_004070890.2:g.2796436_2796443dup, NW_004070890.2:g.2796435_2796443dup, NW_004070890.2:g.2796434_2796443dup, NW_004070890.2:g.2796433_2796443dup

Select item 3610115414.

rs36101154 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA [Show Flanks]
Chromosome:: X:147272953 (GRCh38)
X:146354471 (GRCh37)
Canonical SPDI:: NC_000023.11:147272952:AAAAAAAAAA:AAAAAAAAA,NC_000023.11:147272952:AAAAAAAAAA:AAAAAAAAAAA
Gene:: MIR510 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0.040145/622 (ALFA)
-=0.179301/518 (ALSPAC)
-=0.190204/50345 (TOPMED)
-=0.197681/733 (TWINSUK)
-=0.209272/790 (1000Genomes)
-=0.225/9 (GENOME_DK)
HGVS:: NC_000023.11:g.147272962del, NC_000023.11:g.147272962dup, NC_000023.10:g.146354480del, NC_000023.10:g.146354480dup, NW_004070890.2:g.2797353del, NW_004070890.2:g.2797353dup

Select item 5584586415.

rs55845864 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:147273440 (GRCh38)
X:146354958 (GRCh37)
Canonical SPDI:: NC_000023.11:147273439:C:T
Gene:: MIR510 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.173164/3207 (ALFA)
T=0.12944/379 (KOREAN)
T=0.13378/1718 (TOMMO)
T=0.179647/519 (ALSPAC)
T=0.181235/18652 (GnomAD)
T=0.1875/9 (Vietnamese)
T=0.189973/50284 (TOPMED)
T=0.19795/734 (TWINSUK)
T=0.2/8 (GENOME_DK)
T=0.202289/764 (1000Genomes)
T=0.222222/24 (Qatari)
C=0.25/39 (SGDP_PRJ)
C=0.416667/5 (Siberian)
HGVS:: NC_000023.11:g.147273440C>T, NC_000023.10:g.146354958C>T, NW_004070890.2:g.2797831C>T

Select item 7363786216.

rs73637862 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:147273707 (GRCh38)
X:146355225 (GRCh37)
Canonical SPDI:: NC_000023.11:147273706:T:C
Gene:: MIR510 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.025765/362 (ALFA)
C=0.000346/1 (ALSPAC)
C=0.000539/2 (TWINSUK)
C=0.018519/2 (Qatari)
C=0.029136/110 (1000Genomes)
C=0.031061/3226 (GnomAD)
C=0.033466/8858 (TOPMED)
T=0.4/4 (SGDP_PRJ)
HGVS:: NC_000023.11:g.147273707T>C, NC_000023.10:g.146355225T>C, NW_004070890.2:g.2798098T>C

Select item 7777222417.

rs77772224 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:147272097 (GRCh38)
X:146353615 (GRCh37)
Canonical SPDI:: NC_000023.11:147272096:T:C
Gene:: MIR510 (Varview), LOC105373347 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.037219/1108 (ALFA)
C=0.025964/333 (TOMMO)
C=0.026969/100 (TWINSUK)
C=0.030114/87 (ALSPAC)
C=0.037037/4 (Qatari)
C=0.038744/4006 (GnomAD)
C=0.040447/10706 (TOPMED)
C=0.044537/168 (1000Genomes)
C=0.054073/158 (KOREAN)
C=0.1/4 (GENOME_DK)
T=0.2/8 (SGDP_PRJ)
T=0.5/1 (Siberian)
HGVS:: NC_000023.11:g.147272097T>C, NC_000023.10:g.146353615T>C, NW_004070890.2:g.2796488T>C

Select item 11208130118.

rs112081301 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:147272861 (GRCh38)
X:146354379 (GRCh37)
Canonical SPDI:: NC_000023.11:147272860:A:G
Gene:: MIR510 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
HGVS:: NC_000023.11:g.147272861A>G, NC_000023.10:g.146354379A>G, NW_004070890.2:g.2797252A>G

Select item 11252656219.

rs112526562 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:147272434 (GRCh38)
X:146353952 (GRCh37)
Canonical SPDI:: NC_000023.11:147272433:G:C
Gene:: MIR510 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.002778/64 (ALFA)
G=0./0 (SGDP_PRJ)
C=0.001485/264 (GnomAD_exomes)
C=0.001959/156 (ExAC)
C=0.00333/13 (1000Genomes)
C=0.005643/591 (GnomAD)
C=0.006419/1699 (TOPMED)
C=0.006523/53 (GoESP)
C=0.009259/1 (Qatari)
HGVS:: NC_000023.11:g.147272434G>C, NC_000023.10:g.146353952G>C, NW_004070890.2:g.2796825G>C

Select item 11258931920.

rs112589319 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: X:147272181 (GRCh38)
X:146353699 (GRCh37)
Canonical SPDI:: NC_000023.11:147272180:T:A
Gene:: MIR510 (Varview), LOC105373347 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.017873/331 (ALFA)
A=0.005618/3 (MGP)
A=0.011597/43 (TWINSUK)
A=0.012115/35 (ALSPAC)
A=0.018519/2 (Qatari)
A=0.023729/2474 (GnomAD)
A=0.031679/8385 (TOPMED)
A=0.05/2 (GENOME_DK)
A=0.054735/207 (1000Genomes)
A=0.129021/377 (KOREAN)
A=0.151015/1939 (TOMMO)
T=0.25/12 (SGDP_PRJ)
HGVS:: NC_000023.11:g.147272181T>A, NC_000023.10:g.146353699T>A, NW_004070890.2:g.2796572T>A

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