SNP Links for Gene (Select 100506649) - SNP

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Select item 14913205501.

rs1491320550 has merged into rs774744362 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 12:120203974 (GRCh38)
12:120641777 (GRCh37)
Canonical SPDI:: NC_000012.12:120203963:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000012.12:120203963:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000012.12:120203963:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:120203963:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:120203963:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:120203963:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:120203963:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000012.12:120203963:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000012.12:120203963:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000012.12:120203963:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:120203963:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:120203963:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:120203963:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:120203963:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PXN-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
AAA=0.000004/1 (TOPMED)
-=0.194444/7 (GENOME_DK)
HGVS:: NC_000012.12:g.120203974_120203986del, NC_000012.12:g.120203975_120203986del, NC_000012.12:g.120203976_120203986del, NC_000012.12:g.120203977_120203986del, NC_000012.12:g.120203978_120203986del, NC_000012.12:g.120203980_120203986del, NC_000012.12:g.120203982_120203986del, NC_000012.12:g.120203984_120203986del, NC_000012.12:g.120203985_120203986del, NC_000012.12:g.120203986del, NC_000012.12:g.120203986dup, NC_000012.12:g.120203985_120203986dup, NC_000012.12:g.120203984_120203986dup, NC_000012.12:g.120203983_120203986dup, NC_000012.11:g.120641777_120641789del, NC_000012.11:g.120641778_120641789del, NC_000012.11:g.120641779_120641789del, NC_000012.11:g.120641780_120641789del, NC_000012.11:g.120641781_120641789del, NC_000012.11:g.120641783_120641789del, NC_000012.11:g.120641785_120641789del, NC_000012.11:g.120641787_120641789del, NC_000012.11:g.120641788_120641789del, NC_000012.11:g.120641789del, NC_000012.11:g.120641789dup, NC_000012.11:g.120641788_120641789dup, NC_000012.11:g.120641787_120641789dup, NC_000012.11:g.120641786_120641789dup, NM_176827.1:c.-78329_-78317del, NM_176827.1:c.-78328_-78317del, NM_176827.1:c.-78327_-78317del, NM_176827.1:c.-78326_-78317del, NM_176827.1:c.-78325_-78317del, NM_176827.1:c.-78323_-78317del, NM_176827.1:c.-78321_-78317del, NM_176827.1:c.-78319_-78317del, NM_176827.1:c.-78318_-78317del, NM_176827.1:c.-78317del, NM_176827.1:c.-78317dup, NM_176827.1:c.-78318_-78317dup, NM_176827.1:c.-78319_-78317dup, NM_176827.1:c.-78320_-78317dup

Select item 14911537312.

rs1491153731 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 12:120203963 (GRCh38)
12:120641766 (GRCh37)
Canonical SPDI:: NC_000012.12:120203962:CA:
Gene:: PXN-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000012.12:g.120203963_120203964del, NC_000012.11:g.120641766_120641767del, NM_176827.1:c.-78340_-78339del

Select item 14907830263.

rs1490783026 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:120212013 (GRCh38)
12:120649816 (GRCh37)
Canonical SPDI:: NC_000012.12:120212012:A:G
Gene:: PXN (Varview), PXN-AS1 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.120212013A>G, NC_000012.11:g.120649816A>G, NG_029820.1:g.58759T>C, NM_025157.5:c.*301T>C, NM_025157.4:c.*301T>C, NM_002859.4:c.*301T>C, NM_002859.3:c.*301T>C, NM_001080855.3:c.*301T>C, NM_001080855.2:c.*301T>C, NM_001243756.2:c.*301T>C, NM_001243756.1:c.*301T>C, NM_001385981.1:c.*301T>C, NM_001385982.1:c.*301T>C, NM_001385983.1:c.*301T>C, NM_001385984.1:c.*301T>C, NM_001385985.1:c.*301T>C, NM_001385986.1:c.*301T>C, NM_001385987.1:c.*301T>C, NM_001385988.1:c.*589T>C, NM_001385989.1:c.*589T>C, NM_001385990.1:c.*589T>C, XM_006719532.3:c.*301T>C, XM_006719532.2:c.*301T>C, XM_006719532.1:c.*301T>C, XM_017019739.3:c.*301T>C, XM_017019739.2:c.*301T>C, XM_017019739.1:c.*301T>C, XM_017019740.3:c.*301T>C, XM_017019740.2:c.*301T>C, XM_017019740.1:c.*301T>C, XM_017019742.3:c.*301T>C, XM_017019742.2:c.*301T>C, XM_017019742.1:c.*301T>C, XM_011538622.2:c.*301T>C, XM_011538622.1:c.*301T>C, NM_176827.1:c.-70290A>G, XM_047429236.1:c.*301T>C, XM_047429237.1:c.*301T>C, NM_001410986.1:c.*301T>C, XM_047429238.1:c.*301T>C, XM_047429242.1:c.*301T>C, XM_047429243.1:c.*301T>C, XM_047429244.1:c.*301T>C, XM_047429245.1:c.*301T>C, XM_047429250.1:c.*301T>C, XM_047429249.1:c.*301T>C, XM_047429239.1:c.*301T>C, XM_047429240.1:c.*301T>C, XM_047429241.1:c.*301T>C, XM_047429251.1:c.*301T>C, XM_047429252.1:c.*301T>C, XM_047429246.1:c.*301T>C, XM_047429253.1:c.*301T>C

Select item 14907782124.

rs1490778212 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 12:120200421 (GRCh38)
12:120638224 (GRCh37)
Canonical SPDI:: NC_000012.12:120200420:C:G,NC_000012.12:120200420:C:T
Gene:: RPLP0 (Varview), PXN-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000014/2 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000012.12:g.120200421C>G, NC_000012.12:g.120200421C>T, NC_000012.11:g.120638224C>G, NC_000012.11:g.120638224C>T, NM_176827.1:c.-81882C>G, NM_176827.1:c.-81882C>T

Select item 14907298705.

rs1490729870 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:120201741 (GRCh38)
12:120639544 (GRCh37)
Canonical SPDI:: NC_000012.12:120201740:C:T
Gene:: RPLP0 (Varview), PXN-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000224/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000012.12:g.120201741C>T, NC_000012.11:g.120639544C>T, NM_176827.1:c.-80562C>T

Select item 14906134666.

rs1490613466 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 12:120200721 (GRCh38)
12:120638524 (GRCh37)
Canonical SPDI:: NC_000012.12:120200720:T:A
Gene:: RPLP0 (Varview), PXN-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.120200721T>A, NC_000012.11:g.120638524T>A, NM_176827.1:c.-81582T>A

Select item 14906040897.

rs1490604089 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 12:120203493 (GRCh38)
12:120641296 (GRCh37)
Canonical SPDI:: NC_000012.12:120203492:G:A,NC_000012.12:120203492:G:C
Gene:: PXN-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000049/13 (TOPMED)
A=0.000072/10 (GnomAD)
HGVS:: NC_000012.12:g.120203493G>A, NC_000012.12:g.120203493G>C, NC_000012.11:g.120641296G>A, NC_000012.11:g.120641296G>C, NM_176827.1:c.-78810G>A, NM_176827.1:c.-78810G>C

Select item 14905108528.

rs1490510852 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 12:120206692 (GRCh38)
12:120644495 (GRCh37)
Canonical SPDI:: NC_000012.12:120206691:A:C
Gene:: PXN-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.120206692A>C, NC_000012.11:g.120644495A>C, NM_176827.1:c.-75611A>C

Select item 14904852829.

rs1490485282 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:120205842 (GRCh38)
12:120643645 (GRCh37)
Canonical SPDI:: NC_000012.12:120205841:A:G
Gene:: PXN-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.120205842A>G, NC_000012.11:g.120643645A>G, NM_176827.1:c.-76461A>G

Select item 149029159210.

rs1490291592 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:120211632 (GRCh38)
12:120649435 (GRCh37)
Canonical SPDI:: NC_000012.12:120211631:C:T
Gene:: PXN (Varview), PXN-AS1 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
T=0.000312/2 (1000Genomes)
HGVS:: NC_000012.12:g.120211632C>T, NC_000012.11:g.120649435C>T, NG_029820.1:g.59140G>A, NM_025157.5:c.*682G>A, NM_025157.4:c.*682G>A, NM_002859.4:c.*682G>A, NM_002859.3:c.*682G>A, NM_001080855.3:c.*682G>A, NM_001080855.2:c.*682G>A, NM_001243756.2:c.*682G>A, NM_001243756.1:c.*682G>A, NM_001385981.1:c.*682G>A, NM_001385982.1:c.*682G>A, NM_001385983.1:c.*682G>A, NM_001385984.1:c.*682G>A, NM_001385985.1:c.*682G>A, NM_001385986.1:c.*682G>A, NM_001385987.1:c.*682G>A, NM_001385988.1:c.*970G>A, NM_001385989.1:c.*970G>A, NM_001385990.1:c.*970G>A, XM_006719532.3:c.*682G>A, XM_006719532.2:c.*682G>A, XM_006719532.1:c.*682G>A, XM_017019739.3:c.*682G>A, XM_017019739.2:c.*682G>A, XM_017019739.1:c.*682G>A, XM_017019740.3:c.*682G>A, XM_017019740.2:c.*682G>A, XM_017019740.1:c.*682G>A, XM_017019742.3:c.*682G>A, XM_017019742.2:c.*682G>A, XM_017019742.1:c.*682G>A, XM_011538622.2:c.*682G>A, XM_011538622.1:c.*682G>A, NM_176827.1:c.-70671C>T, XM_047429236.1:c.*682G>A, XM_047429237.1:c.*682G>A, NM_001410986.1:c.*682G>A, XM_047429238.1:c.*682G>A, XM_047429242.1:c.*682G>A, XM_047429243.1:c.*682G>A, XM_047429244.1:c.*682G>A, XM_047429245.1:c.*682G>A, XM_047429250.1:c.*682G>A, XM_047429249.1:c.*682G>A, XM_047429239.1:c.*682G>A, XM_047429240.1:c.*682G>A, XM_047429241.1:c.*682G>A, XM_047429251.1:c.*682G>A, XM_047429252.1:c.*682G>A, XM_047429246.1:c.*682G>A, XM_047429253.1:c.*682G>A

Select item 149028995011.

rs1490289950 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 12:120200786 (GRCh38)
12:120638589 (GRCh37)
Canonical SPDI:: NC_000012.12:120200785:C:A,NC_000012.12:120200785:C:T
Gene:: RPLP0 (Varview), PXN-AS1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.120200786C>A, NC_000012.12:g.120200786C>T, NC_000012.11:g.120638589C>A, NC_000012.11:g.120638589C>T, NM_053275.4:c.-3G>T, NM_053275.4:c.-3G>A, NM_053275.3:c.-3G>T, NM_053275.3:c.-3G>A, NM_001002.4:c.-3G>T, NM_001002.4:c.-3G>A, NM_001002.3:c.-3G>T, NM_001002.3:c.-3G>A, NM_176827.1:c.-81517C>A, NM_176827.1:c.-81517C>T

Select item 149024020212.

rs1490240202 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:120202545 (GRCh38)
12:120640348 (GRCh37)
Canonical SPDI:: NC_000012.12:120202544:A:G
Gene:: RPLP0 (Varview), PXN-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000024/3 (GnomAD)
HGVS:: NC_000012.12:g.120202545A>G, NC_000012.11:g.120640348A>G, NM_176827.1:c.-79758A>G

Select item 149011288513.

rs1490112885 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:120204297 (GRCh38)
12:120642100 (GRCh37)
Canonical SPDI:: NC_000012.12:120204296:C:T
Gene:: PXN-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.120204297C>T, NC_000012.11:g.120642100C>T, NM_176827.1:c.-78006C>T

Select item 148989209814.

rs1489892098 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:120199658 (GRCh38)
12:120637461 (GRCh37)
Canonical SPDI:: NC_000012.12:120199657:A:G
Gene:: RPLP0 (Varview), PXN-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.120199658A>G, NC_000012.11:g.120637461A>G, NM_176827.1:c.-82645A>G

Select item 148966286915.

rs1489662869 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:120205496 (GRCh38)
12:120643299 (GRCh37)
Canonical SPDI:: NC_000012.12:120205495:C:T
Gene:: PXN-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
T=0.000035/1 (TOMMO)
HGVS:: NC_000012.12:g.120205496C>T, NC_000012.11:g.120643299C>T, NM_176827.1:c.-76807C>T

Select item 148961065016.

rs1489610650 has merged into rs71072595 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTAAAAAAAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 12:120202447 (GRCh38)
12:120640250 (GRCh37)
Canonical SPDI:: NC_000012.12:120202435:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000012.12:120202435:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:120202435:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:120202435:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:120202435:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:120202435:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:120202435:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:120202435:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:120202435:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000012.12:120202435:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000012.12:120202435:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000012.12:120202435:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:120202435:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:120202435:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:120202435:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:120202435:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:120202435:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:120202435:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:120202435:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:120202435:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:120202435:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:120202435:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:120202435:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:120202435:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:120202435:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:120202435:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAAAAAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:120202435:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:120202435:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:120202435:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:120202435:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:120202435:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:120202435:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:120202435:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:120202435:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:120202435:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:120202435:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:120202435:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:120202435:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:120202435:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:120202435:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:120202435:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:120202435:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:120202435:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: RPLP0 (Varview), PXN-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000012.12:g.120202447_120202469del, NC_000012.12:g.120202448_120202469del, NC_000012.12:g.120202449_120202469del, NC_000012.12:g.120202450_120202469del, NC_000012.12:g.120202451_120202469del, NC_000012.12:g.120202452_120202469del, NC_000012.12:g.120202453_120202469del, NC_000012.12:g.120202454_120202469del, NC_000012.12:g.120202455_120202469del, NC_000012.12:g.120202456_120202469del, NC_000012.12:g.120202457_120202469del, NC_000012.12:g.120202458_120202469del, NC_000012.12:g.120202459_120202469del, NC_000012.12:g.120202460_120202469del, NC_000012.12:g.120202461_120202469del, NC_000012.12:g.120202462_120202469del, NC_000012.12:g.120202463_120202469del, NC_000012.12:g.120202464_120202469del, NC_000012.12:g.120202465_120202469del, NC_000012.12:g.120202466_120202469del, NC_000012.12:g.120202467_120202469del, NC_000012.12:g.120202468_120202469del, NC_000012.12:g.120202469del, NC_000012.12:g.120202469dup, NC_000012.12:g.120202468_120202469dup, NC_000012.12:g.120202436_120202469T[36]A[8]T[38], NC_000012.12:g.120202467_120202469dup, NC_000012.12:g.120202466_120202469dup, NC_000012.12:g.120202465_120202469dup, NC_000012.12:g.120202464_120202469dup, NC_000012.12:g.120202463_120202469dup, NC_000012.12:g.120202462_120202469dup, NC_000012.12:g.120202461_120202469dup, NC_000012.12:g.120202460_120202469dup, NC_000012.12:g.120202459_120202469dup, NC_000012.12:g.120202458_120202469dup, NC_000012.12:g.120202457_120202469dup, NC_000012.12:g.120202456_120202469dup, NC_000012.12:g.120202455_120202469dup, NC_000012.12:g.120202454_120202469dup, NC_000012.12:g.120202452_120202469dup, NC_000012.12:g.120202450_120202469dup, NC_000012.12:g.120202446_120202469dup, NC_000012.11:g.120640250_120640272del, NC_000012.11:g.120640251_120640272del, NC_000012.11:g.120640252_120640272del, NC_000012.11:g.120640253_120640272del, NC_000012.11:g.120640254_120640272del, NC_000012.11:g.120640255_120640272del, NC_000012.11:g.120640256_120640272del, NC_000012.11:g.120640257_120640272del, NC_000012.11:g.120640258_120640272del, NC_000012.11:g.120640259_120640272del, NC_000012.11:g.120640260_120640272del, NC_000012.11:g.120640261_120640272del, NC_000012.11:g.120640262_120640272del, NC_000012.11:g.120640263_120640272del, NC_000012.11:g.120640264_120640272del, NC_000012.11:g.120640265_120640272del, NC_000012.11:g.120640266_120640272del, NC_000012.11:g.120640267_120640272del, NC_000012.11:g.120640268_120640272del, NC_000012.11:g.120640269_120640272del, NC_000012.11:g.120640270_120640272del, NC_000012.11:g.120640271_120640272del, NC_000012.11:g.120640272del, NC_000012.11:g.120640272dup, NC_000012.11:g.120640271_120640272dup, NC_000012.11:g.120640239_120640272T[36]A[8]T[38], NC_000012.11:g.120640270_120640272dup, NC_000012.11:g.120640269_120640272dup, NC_000012.11:g.120640268_120640272dup, NC_000012.11:g.120640267_120640272dup, NC_000012.11:g.120640266_120640272dup, NC_000012.11:g.120640265_120640272dup, NC_000012.11:g.120640264_120640272dup, NC_000012.11:g.120640263_120640272dup, NC_000012.11:g.120640262_120640272dup, NC_000012.11:g.120640261_120640272dup, NC_000012.11:g.120640260_120640272dup, NC_000012.11:g.120640259_120640272dup, NC_000012.11:g.120640258_120640272dup, NC_000012.11:g.120640257_120640272dup, NC_000012.11:g.120640255_120640272dup, NC_000012.11:g.120640253_120640272dup, NC_000012.11:g.120640249_120640272dup, NM_176827.1:c.-79856_-79834del, NM_176827.1:c.-79855_-79834del, NM_176827.1:c.-79854_-79834del, NM_176827.1:c.-79853_-79834del, NM_176827.1:c.-79852_-79834del, NM_176827.1:c.-79851_-79834del, NM_176827.1:c.-79850_-79834del, NM_176827.1:c.-79849_-79834del, NM_176827.1:c.-79848_-79834del, NM_176827.1:c.-79847_-79834del, NM_176827.1:c.-79846_-79834del, NM_176827.1:c.-79845_-79834del, NM_176827.1:c.-79844_-79834del, NM_176827.1:c.-79843_-79834del, NM_176827.1:c.-79842_-79834del, NM_176827.1:c.-79841_-79834del, NM_176827.1:c.-79840_-79834del, NM_176827.1:c.-79839_-79834del, NM_176827.1:c.-79838_-79834del, NM_176827.1:c.-79837_-79834del, NM_176827.1:c.-79836_-79834del, NM_176827.1:c.-79835_-79834del, NM_176827.1:c.-79834del, NM_176827.1:c.-79834dup, NM_176827.1:c.-79835_-79834dup, NM_176827.1:c.-79867_-79834T[36]A[8]T[38], NM_176827.1:c.-79836_-79834dup, NM_176827.1:c.-79837_-79834dup, NM_176827.1:c.-79838_-79834dup, NM_176827.1:c.-79839_-79834dup, NM_176827.1:c.-79840_-79834dup, NM_176827.1:c.-79841_-79834dup, NM_176827.1:c.-79842_-79834dup, NM_176827.1:c.-79843_-79834dup, NM_176827.1:c.-79844_-79834dup, NM_176827.1:c.-79845_-79834dup, NM_176827.1:c.-79846_-79834dup, NM_176827.1:c.-79847_-79834dup, NM_176827.1:c.-79848_-79834dup, NM_176827.1:c.-79849_-79834dup, NM_176827.1:c.-79851_-79834dup, NM_176827.1:c.-79853_-79834dup, NM_176827.1:c.-79857_-79834dup

Select item 148949031417.

rs1489490314 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 12:120204891 (GRCh38)
12:120642694 (GRCh37)
Canonical SPDI:: NC_000012.12:120204890:G:C,NC_000012.12:120204890:G:T
Gene:: PXN-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00021/4 (TOMMO)
T=0.00034/1 (KOREAN)
G=0.5/2 (SGDP_PRJ)
HGVS:: NC_000012.12:g.120204891G>C, NC_000012.12:g.120204891G>T, NC_000012.11:g.120642694G>C, NC_000012.11:g.120642694G>T, NG_074653.1:g.126G>C, NG_074653.1:g.126G>T, NM_176827.1:c.-77412G>C, NM_176827.1:c.-77412G>T

Select item 148945305318.

rs1489453053 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 12:120211075 (GRCh38)
12:120648878 (GRCh37)
Canonical SPDI:: NC_000012.12:120211074:A:C
Gene:: PXN (Varview), PXN-AS1 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_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_000012.12:g.120211075A>C, NC_000012.11:g.120648878A>C, NG_029820.1:g.59697T>G, NM_025157.5:c.*1239T>G, NM_025157.4:c.*1239T>G, NM_002859.4:c.*1239T>G, NM_002859.3:c.*1239T>G, NM_001080855.3:c.*1239T>G, NM_001080855.2:c.*1239T>G, NM_001243756.2:c.*1239T>G, NM_001243756.1:c.*1239T>G, NM_001385981.1:c.*1239T>G, NM_001385982.1:c.*1239T>G, NM_001385983.1:c.*1239T>G, NM_001385984.1:c.*1239T>G, NM_001385985.1:c.*1239T>G, NM_001385986.1:c.*1239T>G, NM_001385987.1:c.*1239T>G, NM_001385988.1:c.*1527T>G, NM_001385989.1:c.*1527T>G, NM_001385990.1:c.*1527T>G, XM_006719532.3:c.*1239T>G, XM_006719532.2:c.*1239T>G, XM_006719532.1:c.*1239T>G, XM_017019739.3:c.*1239T>G, XM_017019739.2:c.*1239T>G, XM_017019739.1:c.*1239T>G, XM_017019740.3:c.*1239T>G, XM_017019740.2:c.*1239T>G, XM_017019740.1:c.*1239T>G, XM_017019742.3:c.*1239T>G, XM_017019742.2:c.*1239T>G, XM_017019742.1:c.*1239T>G, XM_011538622.2:c.*1239T>G, XM_011538622.1:c.*1239T>G, NM_176827.1:c.-71228A>C, XM_047429236.1:c.*1239T>G, XM_047429237.1:c.*1239T>G, NM_001410986.1:c.*1239T>G, XM_047429238.1:c.*1239T>G, XM_047429242.1:c.*1239T>G, XM_047429243.1:c.*1239T>G, XM_047429244.1:c.*1239T>G, XM_047429245.1:c.*1239T>G, XM_047429250.1:c.*1239T>G, XM_047429249.1:c.*1239T>G, XM_047429239.1:c.*1239T>G, XM_047429240.1:c.*1239T>G, XM_047429241.1:c.*1239T>G, XM_047429251.1:c.*1239T>G, XM_047429252.1:c.*1239T>G, XM_047429246.1:c.*1239T>G, XM_047429253.1:c.*1239T>G

Select item 148920918719.

rs1489209187 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:120200120 (GRCh38)
12:120637923 (GRCh37)
Canonical SPDI:: NC_000012.12:120200119:T:G
Gene:: RPLP0 (Varview), PXN-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000012.12:g.120200120T>G, NC_000012.11:g.120637923T>G, NM_176827.1:c.-82183T>G

Select item 148912333620.

rs1489123336 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 12:120207021 (GRCh38)
12:120644824 (GRCh37)
Canonical SPDI:: NC_000012.12:120207020:A:
Gene:: PXN-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000015/4 (TOPMED)
HGVS:: NC_000012.12:g.120207021del, NC_000012.11:g.120644824del, NM_176827.1:c.-75282del

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