SNP Links for Gene (Select 150696) - SNP

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Items: 1 to 20 of 4677

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Select item 14914428061.

rs1491442806 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:95283768 (GRCh38)
2:95949516 (GRCh37)
Canonical SPDI:: NC_000002.12:95283766:ACA:A
Gene:: PROM2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000122/2 (ALFA)
-=0.000045/6 (GnomAD)
-=0.000446/2 (Estonian)
HGVS:: NC_000002.12:g.95283768_95283769del, NC_000002.11:g.95949516_95949517del, NW_025791760.1:g.45872_45873del

Select item 14913583522.

rs1491358352 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 2:95283770 (GRCh38)
2:95949518 (GRCh37)
Canonical SPDI:: NC_000002.12:95283769:GT:
Gene:: PROM2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000002.12:g.95283770_95283771del, NC_000002.11:g.95949518_95949519del, NW_025791760.1:g.45874_45875del

Select item 14912631703.

rs1491263170 [Homo sapiens]

Variant type:: INS
Alleles:: ->GTTT [Show Flanks]
Chromosome:: 2:95283767 (GRCh38)
2:95949516 (GRCh37)
Canonical SPDI:: NC_000002.12:95283767::GTTT
Gene:: PROM2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GTTT=0./0 (ALFA)
HGVS:: NC_000002.12:g.95283767_95283768insGTTT, NC_000002.11:g.95949515_95949516insGTTT, NW_025791760.1:g.45871_45872insGTTT

Select item 14908851844.

rs1490885184 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:95277289 (GRCh38)
2:95943037 (GRCh37)
Canonical SPDI:: NC_000002.12:95277288:G:A,NC_000002.12:95277288:G:C
Gene:: PROM2 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.95277289G>A, NC_000002.12:g.95277289G>C, NC_000002.11:g.95943037G>A, NC_000002.11:g.95943037G>C, NW_025791760.1:g.39393G>A, NW_025791760.1:g.39393G>C

Select item 14908309685.

rs1490830968 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:95283980 (GRCh38)
2:95949728 (GRCh37)
Canonical SPDI:: NC_000002.12:95283979:C:G,NC_000002.12:95283979:C:T
Gene:: PROM2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000021/3 (GnomAD)
T=0.001667/1 (NorthernSweden)
HGVS:: NC_000002.12:g.95283980C>G, NC_000002.12:g.95283980C>T, NC_000002.11:g.95949728C>G, NC_000002.11:g.95949728C>T, NW_025791760.1:g.46084C>G, NW_025791760.1:g.46084C>T

Select item 14907807996.

rs1490780799 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:95279149 (GRCh38)
2:95944897 (GRCh37)
Canonical SPDI:: NC_000002.12:95279148:T:G
Gene:: PROM2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: G=0.00004/1 (TOMMO)
G=0.00617/18 (KOREAN)
HGVS:: NC_000002.12:g.95279149T>G, NC_000002.11:g.95944897T>G, NW_025791760.1:g.41253T>G

Select item 14903542257.

rs1490354225 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:95284558 (GRCh38)
2:95950306 (GRCh37)
Canonical SPDI:: NC_000002.12:95284557:T:C
Gene:: PROM2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.95284558T>C, NC_000002.11:g.95950306T>C, NW_025791760.1:g.46662T>C

Select item 14900080938.

rs1490008093 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:95278125 (GRCh38)
2:95943873 (GRCh37)
Canonical SPDI:: NC_000002.12:95278124:C:T
Gene:: PROM2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.95278125C>T, NC_000002.11:g.95943873C>T, NW_025791760.1:g.40229C>T

Select item 14896881649.

rs1489688164 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:95277668 (GRCh38)
2:95943416 (GRCh37)
Canonical SPDI:: NC_000002.12:95277667:C:T
Gene:: PROM2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000002.12:g.95277668C>T, NC_000002.11:g.95943416C>T, NW_025791760.1:g.39772C>T

Select item 148967849310.

rs1489678493 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:95276816 (GRCh38)
2:95942564 (GRCh37)
Canonical SPDI:: NC_000002.12:95276815:C:T
Gene:: PROM2 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.95276816C>T, NC_000002.11:g.95942564C>T, NW_025791760.1:g.38920C>T

Select item 148961019311.

rs1489610193 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 2:95276278 (GRCh38)
2:95942026 (GRCh37)
Canonical SPDI:: NC_000002.12:95276277:GGG:GG
Gene:: PROM2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.95276280del, NC_000002.11:g.95942028del, NW_025791760.1:g.38384del, NM_144707.4:c.551del, NM_144707.3:c.551del, NM_144707.2:c.551del, NM_001165977.3:c.551del, NM_001165977.2:c.551del, NM_001165977.1:c.551del, NM_001165978.3:c.551del, NM_001165978.2:c.551del, NM_001165978.1:c.551del, XM_011510672.3:c.551del, XM_011510672.2:c.551del, XM_011510672.1:c.551del, NM_001321070.2:c.-418del, NM_001321070.1:c.-418del, XM_047443449.1:c.323del, NP_653308.2:p.Gly184fs, NP_001159449.1:p.Gly184fs, NP_001159450.1:p.Gly184fs, XP_011508974.1:p.Gly184fs, XP_047299405.1:p.Gly108fs

Select item 148941975612.

rs1489419756 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:95290493 (GRCh38)
2:95956241 (GRCh37)
Canonical SPDI:: NC_000002.12:95290492:G:C
Gene:: PROM2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.95290493G>C, NC_000002.11:g.95956241G>C, NW_025791760.1:g.52597G>C, NM_144707.4:c.*371G>C, NM_144707.3:c.*371G>C, NM_144707.2:c.*371G>C, XM_006712301.3:c.*1280G>C, XM_006712301.2:c.*1280G>C, XM_006712301.1:c.*1280G>C, NM_001165978.3:c.*1280G>C, NM_001165978.2:c.*1280G>C, NM_001165978.1:c.*1280G>C, NM_001321070.2:c.*371G>C, NM_001321070.1:c.*371G>C, XM_047443449.1:c.*1280G>C

Select item 148930609813.

rs1489306098 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 2:95285971 (GRCh38)
2:95951719 (GRCh37)
Canonical SPDI:: NC_000002.12:95285970:T:A,NC_000002.12:95285970:T:C
Gene:: PROM2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_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.95285971T>A, NC_000002.12:g.95285971T>C, NC_000002.11:g.95951719T>A, NC_000002.11:g.95951719T>C, NW_025791760.1:g.48075T>A, NW_025791760.1:g.48075T>C

Select item 148918873514.

rs1489188735 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:95285612 (GRCh38)
2:95951360 (GRCh37)
Canonical SPDI:: NC_000002.12:95285611:C:T
Gene:: PROM2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.95285612C>T, NC_000002.11:g.95951360C>T, NW_025791760.1:g.47716C>T

Select item 148915856415.

rs1489158564 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:95281874 (GRCh38)
2:95947622 (GRCh37)
Canonical SPDI:: NC_000002.12:95281873:G:A
Gene:: PROM2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.95281874G>A, NC_000002.11:g.95947622G>A, NW_025791760.1:g.43978G>A

Select item 148890713816.

rs1488907138 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:95273226 (GRCh38)
2:95938974 (GRCh37)
Canonical SPDI:: NC_000002.12:95273225:C:T
Gene:: PROM2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by cluster
MAF:: T=0.0005/1 (Korea1K)
HGVS:: NC_000002.12:g.95273226C>T, NC_000002.11:g.95938974C>T, NW_025791760.1:g.35330C>T

Select item 148883403617.

rs1488834036 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:95282233 (GRCh38)
2:95947981 (GRCh37)
Canonical SPDI:: NC_000002.12:95282232:G:C
Gene:: PROM2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000142/2 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000026/7 (TOPMED)
HGVS:: NC_000002.12:g.95282233G>C, NC_000002.11:g.95947981G>C, NW_025791760.1:g.44337G>C

Select item 148877579918.

rs1488775799 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:95287893 (GRCh38)
2:95953641 (GRCh37)
Canonical SPDI:: NC_000002.12:95287892:G:A
Gene:: PROM2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000054/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000002.12:g.95287893G>A, NC_000002.11:g.95953641G>A, NW_025791760.1:g.49997G>A

Select item 148870887519.

rs1488708875 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:95278200 (GRCh38)
2:95943948 (GRCh37)
Canonical SPDI:: NC_000002.12:95278199:C:G,NC_000002.12:95278199:C:T
Gene:: PROM2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.95278200C>G, NC_000002.12:g.95278200C>T, NC_000002.11:g.95943948C>G, NC_000002.11:g.95943948C>T, NW_025791760.1:g.40304C>G, NW_025791760.1:g.40304C>T

Select item 148866698820.

rs1488666988 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 2:95286675 (GRCh38)
2:95952423 (GRCh37)
Canonical SPDI:: NC_000002.12:95286674:T:A,NC_000002.12:95286674:T:C
Gene:: PROM2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000337/4 (ALFA)
A=0.00001/1 (GnomAD)
HGVS:: NC_000002.12:g.95286675T>A, NC_000002.12:g.95286675T>C, NC_000002.11:g.95952423T>A, NC_000002.11:g.95952423T>C, NW_025791760.1:g.48779T>A, NW_025791760.1:g.48779T>C

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