FAM95A - SNP

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Items: 1 to 20 of 4167

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Select item 9369401.

rs936940 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:94756242 (GRCh38)
2:95421987 (GRCh37)
Canonical SPDI:: NC_000002.12:94756241:C:G
Gene:: FAM95A (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000002.12:g.94756242C>G, NC_000002.11:g.95421987C>G, NW_003571032.1:g.193818C>G

Select item 9369412.

rs936941 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:94756216 (GRCh38)
2:95421961 (GRCh37)
Canonical SPDI:: NC_000002.12:94756215:T:C
Gene:: FAM95A (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000002.12:g.94756216T>C, NC_000002.11:g.95421961T>C, NW_003571032.1:g.193792T>C

Select item 9369423.

rs936942 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:94756211 (GRCh38)
2:95421956 (GRCh37)
Canonical SPDI:: NC_000002.12:94756210:T:C
Gene:: FAM95A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000086/12 (GnomAD)
C=0.000098/26 (TOPMED)
HGVS:: NC_000002.12:g.94756211T>C, NC_000002.11:g.95421956T>C, NW_003571032.1:g.193787T>C

Select item 14673364.

rs1467336 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 2:94756502 (GRCh38)
2:95422247 (GRCh37)
Canonical SPDI:: NC_000002.12:94756501:C:A,NC_000002.12:94756501:C:G,NC_000002.12:94756501:C:T
Gene:: FAM95A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.018509/310 (TOMMO)
G=0.019507/57 (KOREAN)
G=0.021834/40 (Korea1K)
G=0.1/4 (GENOME_DK)
G=0.103333/62 (NorthernSweden)
G=0.117853/437 (TWINSUK)
G=0.122989/474 (ALSPAC)
G=0.140849/705 (1000Genomes)
G=0.146293/146 (GoNL)
G=0.170732/56 (HapMap)
G=0.17148/45389 (TOPMED)
G=0.212963/46 (Qatari)
C=0.409091/36 (SGDP_PRJ)
C=0.5/5 (Siberian)
HGVS:: NC_000002.12:g.94756502C>A, NC_000002.12:g.94756502C>G, NC_000002.12:g.94756502C>T, NC_000002.11:g.95422247C>A, NC_000002.11:g.95422247C>G, NC_000002.11:g.95422247C>T, NW_003571032.1:g.194078C>A, NW_003571032.1:g.194078C>G, NW_003571032.1:g.194078C>T

Select item 18096365.

rs1809636 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:94755952 (GRCh38)
2:95421697 (GRCh37)
Canonical SPDI:: NC_000002.12:94755951:C:G
Gene:: FAM95A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.488989/9237 (ALFA)
C=0.2475/99 (SGDP_PRJ)
C=0.309898/908 (KOREAN)
C=0.333333/14 (Siberian)
C=0.339751/5694 (TOMMO)
C=0.345524/633 (Korea1K)
C=0.361798/644 (HapMap)
C=0.384259/83 (Qatari)
C=0.39975/2002 (1000Genomes)
C=0.417768/110579 (TOPMED)
G=0.42206/1565 (TWINSUK)
G=0.427856/427 (GoNL)
C=0.431719/60451 (GnomAD)
G=0.431759/1664 (ALSPAC)
C=0.43933/90096 (GENOGRAPHIC)
C=0.48/288 (NorthernSweden)
HGVS:: NC_000002.12:g.94755952C>G, NC_000002.11:g.95421697C>G, NW_003571032.1:g.193528C>G

Select item 20017486.

rs2001748 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 2:94757400 (GRCh38)
2:95423145 (GRCh37)
Canonical SPDI:: NC_000002.12:94757399:T:C,NC_000002.12:94757399:T:G
Gene:: FAM95A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.27245/2767 (ALFA)
T=0.282609/104 (SGDP_PRJ)
T=0.315789/12 (Siberian)
C=0.325/13 (GENOME_DK)
T=0.391881/6568 (TOMMO)
T=0.398058/82 (Vietnamese)
T=0.398148/86 (Qatari)
T=0.403072/1181 (KOREAN)
T=0.40393/740 (Korea1K)
C=0.43069/1597 (TWINSUK)
C=0.434613/1675 (ALSPAC)
C=0.435872/435 (GoNL)
C=0.455/273 (NorthernSweden)
T=0.47158/2362 (1000Genomes)
T=0.477793/126467 (TOPMED)
HGVS:: NC_000002.12:g.94757400T>C, NC_000002.12:g.94757400T>G, NC_000002.11:g.95423145T>C, NC_000002.11:g.95423145T>G, NW_003571032.1:g.194976T>C, NW_003571032.1:g.194976T>G

Select item 20047667.

rs2004766 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:94757837 (GRCh38)
2:95423582 (GRCh37)
Canonical SPDI:: NC_000002.12:94757836:C:T
Gene:: FAM95A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00853/123 (ALFA)
T=0.00463/1 (Qatari)
T=0.011569/1622 (GnomAD)
T=0.012101/3203 (TOPMED)
T=0.012336/62 (1000Genomes)
C=0.5/5 (SGDP_PRJ)
HGVS:: NC_000002.12:g.94757837C>T, NC_000002.11:g.95423582C>T, NW_003571032.1:g.195413C>T

Select item 23208618.

rs2320861 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:94760542 (GRCh38)
2:95426287 (GRCh37)
Canonical SPDI:: NC_000002.12:94760541:A:G
Gene:: FAM95A (Varview), ANKRD20A8P (Varview)
Functional Consequence:: 500B_downstream_variant,non_coding_transcript_variant,downstream_transcript_variant
HGVS:: NC_000002.12:g.94760542A>G, NC_000002.11:g.95426287A>G, NW_003571032.1:g.198118A>G, NR_038409.1:n.643T>C

Select item 23208629.

rs2320862 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:94757165 (GRCh38)
2:95422910 (GRCh37)
Canonical SPDI:: NC_000002.12:94757164:T:C
Gene:: FAM95A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.94757165T>C, NC_000002.11:g.95422910T>C, NW_003571032.1:g.194741T>C

Select item 232086310.

rs2320863 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:94756978 (GRCh38)
2:95422723 (GRCh37)
Canonical SPDI:: NC_000002.12:94756977:C:T
Gene:: FAM95A (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000002.12:g.94756978C>T, NC_000002.11:g.95422723C>T, NW_003571032.1:g.194554C>T

Select item 232086411.

rs2320864 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:94756967 (GRCh38)
2:95422712 (GRCh37)
Canonical SPDI:: NC_000002.12:94756966:A:C
Gene:: FAM95A (Varview)
Functional Consequence:: intron_variant
Validated:: by cluster
HGVS:: NC_000002.12:g.94756967A>C, NC_000002.11:g.95422712A>C, NW_003571032.1:g.194543A>C

Select item 232086512.

rs2320865 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 2:94755455 (GRCh38)
2:95421200 (GRCh37)
Canonical SPDI:: NC_000002.12:94755454:G:A,NC_000002.12:94755454:G:T
Gene:: FAM95A (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000057/8 (GnomAD)
A=0.000064/17 (TOPMED)
HGVS:: NC_000002.12:g.94755455G>A, NC_000002.12:g.94755455G>T, NC_000002.11:g.95421200G>A, NC_000002.11:g.95421200G>T, NW_003571032.1:g.193031G>A, NW_003571032.1:g.193031G>T, NR_038409.1:n.2269C>T, NR_038409.1:n.2269C>A

Select item 232086613.

rs2320866 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:94755423 (GRCh38)
2:95421168 (GRCh37)
Canonical SPDI:: NC_000002.12:94755422:C:T
Gene:: FAM95A (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000021/3 (GnomAD)
T=0.000034/9 (TOPMED)
HGVS:: NC_000002.12:g.94755423C>T, NC_000002.11:g.95421168C>T, NW_003571032.1:g.192999C>T, NR_038409.1:n.2301G>A

Select item 232086714.

rs2320867 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 2:94755408 (GRCh38)
2:95421153 (GRCh37)
Canonical SPDI:: NC_000002.12:94755407:G:A,NC_000002.12:94755407:G:T
Gene:: FAM95A (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000054/1 (ALFA)
A=0.000057/8 (GnomAD)
A=0.000781/4 (1000Genomes)
HGVS:: NC_000002.12:g.94755408G>A, NC_000002.12:g.94755408G>T, NC_000002.11:g.95421153G>A, NC_000002.11:g.95421153G>T, NW_003571032.1:g.192984G>A, NW_003571032.1:g.192984G>T, NR_038409.1:n.2316C>T, NR_038409.1:n.2316C>A

Select item 232086815.

rs2320868 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:94755330 (GRCh38)
2:95421075 (GRCh37)
Canonical SPDI:: NC_000002.12:94755329:T:C
Gene:: FAM95A (Varview)
Functional Consequence:: non_coding_transcript_variant
HGVS:: NC_000002.12:g.94755330T>C, NC_000002.11:g.95421075T>C, NW_003571032.1:g.192906T>C, NR_038409.1:n.2394A>G

Select item 232086916.

rs2320869 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:94755297 (GRCh38)
2:95421042 (GRCh37)
Canonical SPDI:: NC_000002.12:94755296:T:G
Gene:: FAM95A (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
HGVS:: NC_000002.12:g.94755297T>G, NC_000002.11:g.95421042T>G, NW_003571032.1:g.192873T>G

Select item 287438017.

rs2874380 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:94755382 (GRCh38)
2:95421127 (GRCh37)
Canonical SPDI:: NC_000002.12:94755381:T:C
Gene:: FAM95A (Varview)
Functional Consequence:: non_coding_transcript_variant
HGVS:: NC_000002.12:g.94755382T>C, NC_000002.11:g.95421127T>C, NW_003571032.1:g.192958T>C, NR_038409.1:n.2342A>G

Select item 308383618.

rs3083836 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TT [Show Flanks]
Chromosome:: 2:94757287 (GRCh38)
2:95423033 (GRCh37)
Canonical SPDI:: NC_000002.12:94757287:T:TTT
Gene:: FAM95A (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000002.12:g.94757288_94757289insTT, NC_000002.11:g.95423033_95423034insTT, NW_003571032.1:g.194864_194865insTT

Select item 374885819.

rs3748858 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:94760074 (GRCh38)
2:95425819 (GRCh37)
Canonical SPDI:: NC_000002.12:94760073:G:A
Gene:: FAM95A (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000176/4 (ALFA)
A=0.000463/65 (GnomAD)
A=0.000994/263 (TOPMED)
A=0.002809/1 (HapMap)
A=0.002811/14 (1000Genomes)
A=0.009346/2 (Vietnamese)
A=0.019854/333 (TOMMO)
A=0.031114/57 (Korea1K)
A=0.037303/109 (KOREAN)
G=0.5/5 (SGDP_PRJ)
HGVS:: NC_000002.12:g.94760074G>A, NC_000002.11:g.95425819G>A, NG_046655.1:g.306C>T, NW_003571032.1:g.197650G>A, NR_038409.1:n.1111C>T

Select item 383477520.

rs3834775 [Homo sapiens]

Variant type:: DELINS
Alleles:: AACA>- [Show Flanks]
Chromosome:: 2:94756095 (GRCh38)
2:95421840 (GRCh37)
Canonical SPDI:: NC_000002.12:94756088:CAAACAAACA:CAAACA
Gene:: FAM95A (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CAAACA=0.001495/21 (ALFA)
-=0.000071/1 (TOMMO)
-=0.000927/130 (GnomAD)
-=0.001186/314 (TOPMED)
-=0.001874/9 (1000Genomes)
HGVS:: NC_000002.12:g.94756091AACA[1], NC_000002.11:g.95421836AACA[1], NW_003571032.1:g.193667AACA[1], NR_038409.1:n.1955TTTG[1]

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