SNP Links for Nucleotide (Select 336594884) - SNP

Links from Nucleotide

Items: 1 to 20 of 205

<< First< Prev

Page of 11

Next >Last >>

Select item 14839752501.

rs1483975250 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:120206560 (GRCh38)
12:120644363 (GRCh37)
Canonical SPDI:: NC_000012.12:120206559:C:T
Gene:: PXN-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000035/1 (TOMMO)
HGVS:: NC_000012.12:g.120206560C>T, NC_000012.11:g.120644363C>T, NM_176827.1:c.-75743C>T, NR_038924.1:n.152C>T

Select item 14791813172.

rs1479181317 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:120212544 (GRCh38)
12:120650347 (GRCh37)
Canonical SPDI:: NC_000012.12:120212543:C:T
Gene:: PXN (Varview), PXN-AS1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.120212544C>T, NC_000012.11:g.120650347C>T, NG_029820.1:g.58228G>A, NM_025157.5:c.1045G>A, NM_025157.4:c.1045G>A, NM_002859.4:c.1444G>A, NM_002859.3:c.1444G>A, NM_001080855.3:c.1546G>A, NM_001080855.2:c.1546G>A, NM_001243756.2:c.1588G>A, NM_001243756.1:c.1588G>A, NM_001385981.1:c.3016G>A, NM_001385982.1:c.2740G>A, NM_001385983.1:c.2734G>A, NM_001385984.1:c.2473G>A, NM_001385985.1:c.2329G>A, NM_001385986.1:c.1993G>A, NM_001385987.1:c.1855G>A, NM_001385988.1:c.*58G>A, NM_001385989.1:c.*58G>A, NM_001385990.1:c.*58G>A, XM_006719532.3:c.3160G>A, XM_006719532.2:c.3160G>A, XM_006719532.1:c.3160G>A, XM_017019739.3:c.1606G>A, XM_017019739.2:c.1606G>A, XM_017019739.1:c.1606G>A, XM_017019740.3:c.1564G>A, XM_017019740.2:c.1564G>A, XM_017019740.1:c.1564G>A, XM_017019742.3:c.1462G>A, XM_017019742.2:c.1462G>A, XM_017019742.1:c.1462G>A, XM_011538622.2:c.2761G>A, XM_011538622.1:c.2761G>A, NM_176827.1:c.-69759C>T, XM_047429236.1:c.3178G>A, XM_047429237.1:c.2176G>A, NM_001410986.1:c.1540G>A, XM_047429238.1:c.2032G>A, XM_047429242.1:c.1591G>A, XM_047429243.1:c.1582G>A, XM_047429244.1:c.1549G>A, XM_047429245.1:c.1540G>A, XM_047429250.1:c.1438G>A, XM_047429249.1:c.1447G>A, XM_047429239.1:c.1999G>A, XM_047429240.1:c.1690G>A, XM_047429241.1:c.1684G>A, XM_047429251.1:c.1291G>A, XM_047429252.1:c.1189G>A, XM_047429246.1:c.1540G>A, XM_047429253.1:c.1147G>A, NR_038924.1:n.479C>T, NP_079433.3:p.Glu349Lys, NP_002850.2:p.Glu482Lys, NP_001074324.1:p.Glu516Lys, NP_001230685.1:p.Glu530Lys, NP_001372910.1:p.Glu1006Lys, NP_001372911.1:p.Glu914Lys, NP_001372912.1:p.Glu912Lys, NP_001372913.1:p.Glu825Lys, NP_001372914.1:p.Glu777Lys, NP_001372915.1:p.Glu665Lys, NP_001372916.1:p.Glu619Lys, XP_006719595.1:p.Glu1054Lys, XP_016875228.1:p.Glu536Lys, XP_016875229.1:p.Glu522Lys, XP_016875231.1:p.Glu488Lys, XP_011536924.1:p.Glu921Lys, XP_047285192.1:p.Glu1060Lys, XP_047285193.1:p.Glu726Lys, XP_047285194.1:p.Glu678Lys, XP_047285198.1:p.Glu531Lys, XP_047285199.1:p.Glu528Lys, XP_047285200.1:p.Glu517Lys, XP_047285201.1:p.Glu514Lys, XP_047285206.1:p.Glu480Lys, XP_047285205.1:p.Glu483Lys, XP_047285195.1:p.Glu667Lys, XP_047285196.1:p.Glu564Lys, XP_047285197.1:p.Glu562Lys, XP_047285207.1:p.Glu431Lys, XP_047285208.1:p.Glu397Lys, XP_047285202.1:p.Glu514Lys, XP_047285209.1:p.Glu383Lys

Select item 14706159293.

rs1470615929 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:120201412 (GRCh38)
12:120639215 (GRCh37)
Canonical SPDI:: NC_000012.12:120201411:T:C
Gene:: RPLP0 (Varview), PXN-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.120201412T>C, NC_000012.11:g.120639215T>C, NM_176827.1:c.-80891T>C, NR_038924.1:n.122T>C

Select item 14609629044.

rs1460962904 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:120209893 (GRCh38)
12:120647696 (GRCh37)
Canonical SPDI:: NC_000012.12:120209892:C:T
Gene:: PXN-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000015/4 (TOPMED)
T=0.000312/2 (1000Genomes)
HGVS:: NC_000012.12:g.120209893C>T, NC_000012.11:g.120647696C>T, NG_029820.1:g.60879G>A, NM_176827.1:c.-72410C>T, NR_038924.1:n.268C>T

Select item 14606830415.

rs1460683041 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:120212772 (GRCh38)
12:120650575 (GRCh37)
Canonical SPDI:: NC_000012.12:120212771:T:G
Gene:: PXN (Varview), PXN-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.120212772T>G, NC_000012.11:g.120650575T>G, NG_029820.1:g.58000A>C, NM_176827.1:c.-69531T>G, NR_038924.1:n.707T>G

Select item 14549002196.

rs1454900219 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:120212547 (GRCh38)
12:120650350 (GRCh37)
Canonical SPDI:: NC_000012.12:120212546:A:G
Gene:: PXN (Varview), PXN-AS1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.120212547A>G, NC_000012.11:g.120650350A>G, NG_029820.1:g.58225T>C, NM_025157.5:c.1042T>C, NM_025157.4:c.1042T>C, NM_002859.4:c.1441T>C, NM_002859.3:c.1441T>C, NM_001080855.3:c.1543T>C, NM_001080855.2:c.1543T>C, NM_001243756.2:c.1585T>C, NM_001243756.1:c.1585T>C, NM_001385981.1:c.3013T>C, NM_001385982.1:c.2737T>C, NM_001385983.1:c.2731T>C, NM_001385984.1:c.2470T>C, NM_001385985.1:c.2326T>C, NM_001385986.1:c.1990T>C, NM_001385987.1:c.1852T>C, NM_001385988.1:c.*55T>C, NM_001385989.1:c.*55T>C, NM_001385990.1:c.*55T>C, XM_006719532.3:c.3157T>C, XM_006719532.2:c.3157T>C, XM_006719532.1:c.3157T>C, XM_017019739.3:c.1603T>C, XM_017019739.2:c.1603T>C, XM_017019739.1:c.1603T>C, XM_017019740.3:c.1561T>C, XM_017019740.2:c.1561T>C, XM_017019740.1:c.1561T>C, XM_017019742.3:c.1459T>C, XM_017019742.2:c.1459T>C, XM_017019742.1:c.1459T>C, XM_011538622.2:c.2758T>C, XM_011538622.1:c.2758T>C, NM_176827.1:c.-69756A>G, XM_047429236.1:c.3175T>C, XM_047429237.1:c.2173T>C, NM_001410986.1:c.1537T>C, XM_047429238.1:c.2029T>C, XM_047429242.1:c.1588T>C, XM_047429243.1:c.1579T>C, XM_047429244.1:c.1546T>C, XM_047429245.1:c.1537T>C, XM_047429250.1:c.1435T>C, XM_047429249.1:c.1444T>C, XM_047429239.1:c.1996T>C, XM_047429240.1:c.1687T>C, XM_047429241.1:c.1681T>C, XM_047429251.1:c.1288T>C, XM_047429252.1:c.1186T>C, XM_047429246.1:c.1537T>C, XM_047429253.1:c.1144T>C, NR_038924.1:n.482A>G, NP_079433.3:p.Phe348Leu, NP_002850.2:p.Phe481Leu, NP_001074324.1:p.Phe515Leu, NP_001230685.1:p.Phe529Leu, NP_001372910.1:p.Phe1005Leu, NP_001372911.1:p.Phe913Leu, NP_001372912.1:p.Phe911Leu, NP_001372913.1:p.Phe824Leu, NP_001372914.1:p.Phe776Leu, NP_001372915.1:p.Phe664Leu, NP_001372916.1:p.Phe618Leu, XP_006719595.1:p.Phe1053Leu, XP_016875228.1:p.Phe535Leu, XP_016875229.1:p.Phe521Leu, XP_016875231.1:p.Phe487Leu, XP_011536924.1:p.Phe920Leu, XP_047285192.1:p.Phe1059Leu, XP_047285193.1:p.Phe725Leu, XP_047285194.1:p.Phe677Leu, XP_047285198.1:p.Phe530Leu, XP_047285199.1:p.Phe527Leu, XP_047285200.1:p.Phe516Leu, XP_047285201.1:p.Phe513Leu, XP_047285206.1:p.Phe479Leu, XP_047285205.1:p.Phe482Leu, XP_047285195.1:p.Phe666Leu, XP_047285196.1:p.Phe563Leu, XP_047285197.1:p.Phe561Leu, XP_047285207.1:p.Phe430Leu, XP_047285208.1:p.Phe396Leu, XP_047285202.1:p.Phe513Leu, XP_047285209.1:p.Phe382Leu

Select item 14510765167.

rs1451076516 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 12:120212702 (GRCh38)
12:120650505 (GRCh37)
Canonical SPDI:: NC_000012.12:120212701:C:G,NC_000012.12:120212701:C:T
Gene:: PXN (Varview), PXN-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.120212702C>G, NC_000012.12:g.120212702C>T, NC_000012.11:g.120650505C>G, NC_000012.11:g.120650505C>T, NG_029820.1:g.58070G>C, NG_029820.1:g.58070G>A, NM_176827.1:c.-69601C>G, NM_176827.1:c.-69601C>T, NR_038924.1:n.637C>G, NR_038924.1:n.637C>T

Select item 14501721318.

rs1450172131 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:120212420 (GRCh38)
12:120650223 (GRCh37)
Canonical SPDI:: NC_000012.12:120212419:T:C
Gene:: PXN (Varview), PXN-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000224/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000223/1 (Estonian)
HGVS:: NC_000012.12:g.120212420T>C, NC_000012.11:g.120650223T>C, NG_029820.1:g.58352A>G, NM_025157.5:c.1169A>G, NM_025157.4:c.1169A>G, NM_002859.4:c.1568A>G, NM_002859.3:c.1568A>G, NM_001080855.3:c.1670A>G, NM_001080855.2:c.1670A>G, NM_001243756.2:c.1712A>G, NM_001243756.1:c.1712A>G, NM_001385981.1:c.3140A>G, NM_001385982.1:c.2864A>G, NM_001385983.1:c.2858A>G, NM_001385984.1:c.2597A>G, NM_001385985.1:c.2453A>G, NM_001385986.1:c.2117A>G, NM_001385987.1:c.1979A>G, NM_001385988.1:c.*182A>G, NM_001385989.1:c.*182A>G, NM_001385990.1:c.*182A>G, XM_006719532.3:c.3284A>G, XM_006719532.2:c.3284A>G, XM_006719532.1:c.3284A>G, XM_017019739.3:c.1730A>G, XM_017019739.2:c.1730A>G, XM_017019739.1:c.1730A>G, XM_017019740.3:c.1688A>G, XM_017019740.2:c.1688A>G, XM_017019740.1:c.1688A>G, XM_017019742.3:c.1586A>G, XM_017019742.2:c.1586A>G, XM_017019742.1:c.1586A>G, XM_011538622.2:c.2885A>G, XM_011538622.1:c.2885A>G, NM_176827.1:c.-69883T>C, XM_047429236.1:c.3302A>G, XM_047429237.1:c.2300A>G, NM_001410986.1:c.1664A>G, XM_047429238.1:c.2156A>G, XM_047429242.1:c.1715A>G, XM_047429243.1:c.1706A>G, XM_047429244.1:c.1673A>G, XM_047429245.1:c.1664A>G, XM_047429250.1:c.1562A>G, XM_047429249.1:c.1571A>G, XM_047429239.1:c.2123A>G, XM_047429240.1:c.1814A>G, XM_047429241.1:c.1808A>G, XM_047429251.1:c.1415A>G, XM_047429252.1:c.1313A>G, XM_047429246.1:c.1664A>G, XM_047429253.1:c.1271A>G, NR_038924.1:n.355T>C, NP_079433.3:p.Glu390Gly, NP_002850.2:p.Glu523Gly, NP_001074324.1:p.Glu557Gly, NP_001230685.1:p.Glu571Gly, NP_001372910.1:p.Glu1047Gly, NP_001372911.1:p.Glu955Gly, NP_001372912.1:p.Glu953Gly, NP_001372913.1:p.Glu866Gly, NP_001372914.1:p.Glu818Gly, NP_001372915.1:p.Glu706Gly, NP_001372916.1:p.Glu660Gly, XP_006719595.1:p.Glu1095Gly, XP_016875228.1:p.Glu577Gly, XP_016875229.1:p.Glu563Gly, XP_016875231.1:p.Glu529Gly, XP_011536924.1:p.Glu962Gly, XP_047285192.1:p.Glu1101Gly, XP_047285193.1:p.Glu767Gly, XP_047285194.1:p.Glu719Gly, XP_047285198.1:p.Glu572Gly, XP_047285199.1:p.Glu569Gly, XP_047285200.1:p.Glu558Gly, XP_047285201.1:p.Glu555Gly, XP_047285206.1:p.Glu521Gly, XP_047285205.1:p.Glu524Gly, XP_047285195.1:p.Glu708Gly, XP_047285196.1:p.Glu605Gly, XP_047285197.1:p.Glu603Gly, XP_047285207.1:p.Glu472Gly, XP_047285208.1:p.Glu438Gly, XP_047285202.1:p.Glu555Gly, XP_047285209.1:p.Glu424Gly

Select item 14454470669.

rs1445447066 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:120212691 (GRCh38)
12:120650494 (GRCh37)
Canonical SPDI:: NC_000012.12:120212690:C:T
Gene:: PXN (Varview), PXN-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.0002/1 (ALFA)
T=0.0002/1 (Estonian)
HGVS:: NC_000012.12:g.120212691C>T, NC_000012.11:g.120650494C>T, NG_029820.1:g.58081G>A, NM_176827.1:c.-69612C>T, NR_038924.1:n.626C>T

Select item 144207437810.

rs1442074378 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:120206545 (GRCh38)
12:120644348 (GRCh37)
Canonical SPDI:: NC_000012.12:120206544:T:G
Gene:: PXN-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.120206545T>G, NC_000012.11:g.120644348T>G, NM_176827.1:c.-75758T>G, NR_038924.1:n.137T>G

Select item 143507724911.

rs1435077249 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:120201380 (GRCh38)
12:120639183 (GRCh37)
Canonical SPDI:: NC_000012.12:120201379:G:A
Gene:: RPLP0 (Varview), PXN-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.120201380G>A, NC_000012.11:g.120639183G>A, NM_176827.1:c.-80923G>A, NR_038924.1:n.90G>A

Select item 143411975212.

rs1434119752 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:120212563 (GRCh38)
12:120650366 (GRCh37)
Canonical SPDI:: NC_000012.12:120212562:G:A
Gene:: PXN (Varview), PXN-AS1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,synonymous_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
HGVS:: NC_000012.12:g.120212563G>A, NC_000012.11:g.120650366G>A, NG_029820.1:g.58209C>T, NM_025157.5:c.1026C>T, NM_025157.4:c.1026C>T, NM_002859.4:c.1425C>T, NM_002859.3:c.1425C>T, NM_001080855.3:c.1527C>T, NM_001080855.2:c.1527C>T, NM_001243756.2:c.1569C>T, NM_001243756.1:c.1569C>T, NM_001385981.1:c.2997C>T, NM_001385982.1:c.2721C>T, NM_001385983.1:c.2715C>T, NM_001385984.1:c.2454C>T, NM_001385985.1:c.2310C>T, NM_001385986.1:c.1974C>T, NM_001385987.1:c.1836C>T, NM_001385988.1:c.*39C>T, NM_001385989.1:c.*39C>T, NM_001385990.1:c.*39C>T, XM_006719532.3:c.3141C>T, XM_006719532.2:c.3141C>T, XM_006719532.1:c.3141C>T, XM_017019739.3:c.1587C>T, XM_017019739.2:c.1587C>T, XM_017019739.1:c.1587C>T, XM_017019740.3:c.1545C>T, XM_017019740.2:c.1545C>T, XM_017019740.1:c.1545C>T, XM_017019742.3:c.1443C>T, XM_017019742.2:c.1443C>T, XM_017019742.1:c.1443C>T, XM_011538622.2:c.2742C>T, XM_011538622.1:c.2742C>T, NM_176827.1:c.-69740G>A, XM_047429236.1:c.3159C>T, XM_047429237.1:c.2157C>T, NM_001410986.1:c.1521C>T, XM_047429238.1:c.2013C>T, XM_047429242.1:c.1572C>T, XM_047429243.1:c.1563C>T, XM_047429244.1:c.1530C>T, XM_047429245.1:c.1521C>T, XM_047429250.1:c.1419C>T, XM_047429249.1:c.1428C>T, XM_047429239.1:c.1980C>T, XM_047429240.1:c.1671C>T, XM_047429241.1:c.1665C>T, XM_047429251.1:c.1272C>T, XM_047429252.1:c.1170C>T, XM_047429246.1:c.1521C>T, XM_047429253.1:c.1128C>T, NR_038924.1:n.498G>A

Select item 142541503813.

rs1425415038 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:120212610 (GRCh38)
12:120650413 (GRCh37)
Canonical SPDI:: NC_000012.12:120212609:C:A
Gene:: PXN (Varview), PXN-AS1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.120212610C>A, NC_000012.11:g.120650413C>A, NG_029820.1:g.58162G>T, NM_001385988.1:c.1678G>T, NM_001385989.1:c.1528G>T, NM_001385990.1:c.1432G>T, NM_176827.1:c.-69693C>A, NR_038924.1:n.545C>A, NP_001372917.1:p.Ala560Ser, NP_001372918.1:p.Ala510Ser, NP_001372919.1:p.Ala478Ser

Select item 141638478814.

rs1416384788 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:120209888 (GRCh38)
12:120647691 (GRCh37)
Canonical SPDI:: NC_000012.12:120209887:A:G
Gene:: PXN-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000026/7 (TOPMED)
G=0.000029/4 (GnomAD)
HGVS:: NC_000012.12:g.120209888A>G, NC_000012.11:g.120647691A>G, NG_029820.1:g.60884T>C, NM_176827.1:c.-72415A>G, NR_038924.1:n.263A>G

Select item 141031829315.

rs1410318293 has merged into rs1026144520 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGCTGGAGCTG>-,GAGCTG,GAGCTGGAGCTGGAGCTG [Show Flanks]
Chromosome:: 12:120201361 (GRCh38)
12:120639164 (GRCh37)
Canonical SPDI:: NC_000012.12:120201350:GCTGGAGCTGGAGCTGGAGCTG:GCTGGAGCTG,NC_000012.12:120201350:GCTGGAGCTGGAGCTGGAGCTG:GCTGGAGCTGGAGCTG,NC_000012.12:120201350:GCTGGAGCTGGAGCTGGAGCTG:GCTGGAGCTGGAGCTGGAGCTGGAGCTG
Gene:: RPLP0 (Varview), PXN-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GCTGGAGCTGGAGCTG=0./0 (ALFA)
-=0.000142/2 (TOMMO)
-=0.00023/61 (TOPMED)
HGVS:: NC_000012.12:g.120201355GAGCTG[1], NC_000012.12:g.120201355GAGCTG[2], NC_000012.12:g.120201355GAGCTG[4], NC_000012.11:g.120639158GAGCTG[1], NC_000012.11:g.120639158GAGCTG[2], NC_000012.11:g.120639158GAGCTG[4], NM_176827.1:c.-80948GAGCTG[1], NM_176827.1:c.-80948GAGCTG[2], NM_176827.1:c.-80948GAGCTG[4], NR_038924.1:n.65GAGCTG[1], NR_038924.1:n.65GAGCTG[2], NR_038924.1:n.65GAGCTG[4]

Select item 140640666916.

rs1406406669 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:120212556 (GRCh38)
12:120650359 (GRCh37)
Canonical SPDI:: NC_000012.12:120212555:C:T
Gene:: PXN (Varview), PXN-AS1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (GnomAD)
HGVS:: NC_000012.12:g.120212556C>T, NC_000012.11:g.120650359C>T, NG_029820.1:g.58216G>A, NM_025157.5:c.1033G>A, NM_025157.4:c.1033G>A, NM_002859.4:c.1432G>A, NM_002859.3:c.1432G>A, NM_001080855.3:c.1534G>A, NM_001080855.2:c.1534G>A, NM_001243756.2:c.1576G>A, NM_001243756.1:c.1576G>A, NM_001385981.1:c.3004G>A, NM_001385982.1:c.2728G>A, NM_001385983.1:c.2722G>A, NM_001385984.1:c.2461G>A, NM_001385985.1:c.2317G>A, NM_001385986.1:c.1981G>A, NM_001385987.1:c.1843G>A, NM_001385988.1:c.*46G>A, NM_001385989.1:c.*46G>A, NM_001385990.1:c.*46G>A, XM_006719532.3:c.3148G>A, XM_006719532.2:c.3148G>A, XM_006719532.1:c.3148G>A, XM_017019739.3:c.1594G>A, XM_017019739.2:c.1594G>A, XM_017019739.1:c.1594G>A, XM_017019740.3:c.1552G>A, XM_017019740.2:c.1552G>A, XM_017019740.1:c.1552G>A, XM_017019742.3:c.1450G>A, XM_017019742.2:c.1450G>A, XM_017019742.1:c.1450G>A, XM_011538622.2:c.2749G>A, XM_011538622.1:c.2749G>A, NM_176827.1:c.-69747C>T, XM_047429236.1:c.3166G>A, XM_047429237.1:c.2164G>A, NM_001410986.1:c.1528G>A, XM_047429238.1:c.2020G>A, XM_047429242.1:c.1579G>A, XM_047429243.1:c.1570G>A, XM_047429244.1:c.1537G>A, XM_047429245.1:c.1528G>A, XM_047429250.1:c.1426G>A, XM_047429249.1:c.1435G>A, XM_047429239.1:c.1987G>A, XM_047429240.1:c.1678G>A, XM_047429241.1:c.1672G>A, XM_047429251.1:c.1279G>A, XM_047429252.1:c.1177G>A, XM_047429246.1:c.1528G>A, XM_047429253.1:c.1135G>A, NR_038924.1:n.491C>T, NP_079433.3:p.Gly345Ser, NP_002850.2:p.Gly478Ser, NP_001074324.1:p.Gly512Ser, NP_001230685.1:p.Gly526Ser, NP_001372910.1:p.Gly1002Ser, NP_001372911.1:p.Gly910Ser, NP_001372912.1:p.Gly908Ser, NP_001372913.1:p.Gly821Ser, NP_001372914.1:p.Gly773Ser, NP_001372915.1:p.Gly661Ser, NP_001372916.1:p.Gly615Ser, XP_006719595.1:p.Gly1050Ser, XP_016875228.1:p.Gly532Ser, XP_016875229.1:p.Gly518Ser, XP_016875231.1:p.Gly484Ser, XP_011536924.1:p.Gly917Ser, XP_047285192.1:p.Gly1056Ser, XP_047285193.1:p.Gly722Ser, XP_047285194.1:p.Gly674Ser, XP_047285198.1:p.Gly527Ser, XP_047285199.1:p.Gly524Ser, XP_047285200.1:p.Gly513Ser, XP_047285201.1:p.Gly510Ser, XP_047285206.1:p.Gly476Ser, XP_047285205.1:p.Gly479Ser, XP_047285195.1:p.Gly663Ser, XP_047285196.1:p.Gly560Ser, XP_047285197.1:p.Gly558Ser, XP_047285207.1:p.Gly427Ser, XP_047285208.1:p.Gly393Ser, XP_047285202.1:p.Gly510Ser, XP_047285209.1:p.Gly379Ser

Select item 140158862817.

rs1401588628 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 12:120209873 (GRCh38)
12:120647676 (GRCh37)
Canonical SPDI:: NC_000012.12:120209872:A:T
Gene:: PXN-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.120209873A>T, NC_000012.11:g.120647676A>T, NG_029820.1:g.60899T>A, NM_176827.1:c.-72430A>T, NR_038924.1:n.248A>T

Select item 139058897718.

rs1390588977 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:120212517 (GRCh38)
12:120650320 (GRCh37)
Canonical SPDI:: NC_000012.12:120212516:C:T
Gene:: PXN (Varview), PXN-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.120212517C>T, NC_000012.11:g.120650320C>T, NG_029820.1:g.58255G>A, NM_025157.5:c.1072G>A, NM_025157.4:c.1072G>A, NM_002859.4:c.1471G>A, NM_002859.3:c.1471G>A, NM_001080855.3:c.1573G>A, NM_001080855.2:c.1573G>A, NM_001243756.2:c.1615G>A, NM_001243756.1:c.1615G>A, NM_001385981.1:c.3043G>A, NM_001385982.1:c.2767G>A, NM_001385983.1:c.2761G>A, NM_001385984.1:c.2500G>A, NM_001385985.1:c.2356G>A, NM_001385986.1:c.2020G>A, NM_001385987.1:c.1882G>A, NM_001385988.1:c.*85G>A, NM_001385989.1:c.*85G>A, NM_001385990.1:c.*85G>A, XM_006719532.3:c.3187G>A, XM_006719532.2:c.3187G>A, XM_006719532.1:c.3187G>A, XM_017019739.3:c.1633G>A, XM_017019739.2:c.1633G>A, XM_017019739.1:c.1633G>A, XM_017019740.3:c.1591G>A, XM_017019740.2:c.1591G>A, XM_017019740.1:c.1591G>A, XM_017019742.3:c.1489G>A, XM_017019742.2:c.1489G>A, XM_017019742.1:c.1489G>A, XM_011538622.2:c.2788G>A, XM_011538622.1:c.2788G>A, NM_176827.1:c.-69786C>T, XM_047429236.1:c.3205G>A, XM_047429237.1:c.2203G>A, NM_001410986.1:c.1567G>A, XM_047429238.1:c.2059G>A, XM_047429242.1:c.1618G>A, XM_047429243.1:c.1609G>A, XM_047429244.1:c.1576G>A, XM_047429245.1:c.1567G>A, XM_047429250.1:c.1465G>A, XM_047429249.1:c.1474G>A, XM_047429239.1:c.2026G>A, XM_047429240.1:c.1717G>A, XM_047429241.1:c.1711G>A, XM_047429251.1:c.1318G>A, XM_047429252.1:c.1216G>A, XM_047429246.1:c.1567G>A, XM_047429253.1:c.1174G>A, NR_038924.1:n.452C>T, NP_079433.3:p.Val358Met, NP_002850.2:p.Val491Met, NP_001074324.1:p.Val525Met, NP_001230685.1:p.Val539Met, NP_001372910.1:p.Val1015Met, NP_001372911.1:p.Val923Met, NP_001372912.1:p.Val921Met, NP_001372913.1:p.Val834Met, NP_001372914.1:p.Val786Met, NP_001372915.1:p.Val674Met, NP_001372916.1:p.Val628Met, XP_006719595.1:p.Val1063Met, XP_016875228.1:p.Val545Met, XP_016875229.1:p.Val531Met, XP_016875231.1:p.Val497Met, XP_011536924.1:p.Val930Met, XP_047285192.1:p.Val1069Met, XP_047285193.1:p.Val735Met, XP_047285194.1:p.Val687Met, XP_047285198.1:p.Val540Met, XP_047285199.1:p.Val537Met, XP_047285200.1:p.Val526Met, XP_047285201.1:p.Val523Met, XP_047285206.1:p.Val489Met, XP_047285205.1:p.Val492Met, XP_047285195.1:p.Val676Met, XP_047285196.1:p.Val573Met, XP_047285197.1:p.Val571Met, XP_047285207.1:p.Val440Met, XP_047285208.1:p.Val406Met, XP_047285202.1:p.Val523Met, XP_047285209.1:p.Val392Met

Select item 139036627119.

rs1390366271 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:120212391 (GRCh38)
12:120650194 (GRCh37)
Canonical SPDI:: NC_000012.12:120212390:G:C
Gene:: PXN (Varview), PXN-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.120212391G>C, NC_000012.11:g.120650194G>C, NG_029820.1:g.58381C>G, NM_025157.5:c.1198C>G, NM_025157.4:c.1198C>G, NM_002859.4:c.1597C>G, NM_002859.3:c.1597C>G, NM_001080855.3:c.1699C>G, NM_001080855.2:c.1699C>G, NM_001243756.2:c.1741C>G, NM_001243756.1:c.1741C>G, NM_001385981.1:c.3169C>G, NM_001385982.1:c.2893C>G, NM_001385983.1:c.2887C>G, NM_001385984.1:c.2626C>G, NM_001385985.1:c.2482C>G, NM_001385986.1:c.2146C>G, NM_001385987.1:c.2008C>G, NM_001385988.1:c.*211C>G, NM_001385989.1:c.*211C>G, NM_001385990.1:c.*211C>G, XM_006719532.3:c.3313C>G, XM_006719532.2:c.3313C>G, XM_006719532.1:c.3313C>G, XM_017019739.3:c.1759C>G, XM_017019739.2:c.1759C>G, XM_017019739.1:c.1759C>G, XM_017019740.3:c.1717C>G, XM_017019740.2:c.1717C>G, XM_017019740.1:c.1717C>G, XM_017019742.3:c.1615C>G, XM_017019742.2:c.1615C>G, XM_017019742.1:c.1615C>G, XM_011538622.2:c.2914C>G, XM_011538622.1:c.2914C>G, NM_176827.1:c.-69912G>C, XM_047429236.1:c.3331C>G, XM_047429237.1:c.2329C>G, NM_001410986.1:c.1693C>G, XM_047429238.1:c.2185C>G, XM_047429242.1:c.1744C>G, XM_047429243.1:c.1735C>G, XM_047429244.1:c.1702C>G, XM_047429245.1:c.1693C>G, XM_047429250.1:c.1591C>G, XM_047429249.1:c.1600C>G, XM_047429239.1:c.2152C>G, XM_047429240.1:c.1843C>G, XM_047429241.1:c.1837C>G, XM_047429251.1:c.1444C>G, XM_047429252.1:c.1342C>G, XM_047429246.1:c.1693C>G, XM_047429253.1:c.1300C>G, NR_038924.1:n.326G>C, NP_079433.3:p.Gln400Glu, NP_002850.2:p.Gln533Glu, NP_001074324.1:p.Gln567Glu, NP_001230685.1:p.Gln581Glu, NP_001372910.1:p.Gln1057Glu, NP_001372911.1:p.Gln965Glu, NP_001372912.1:p.Gln963Glu, NP_001372913.1:p.Gln876Glu, NP_001372914.1:p.Gln828Glu, NP_001372915.1:p.Gln716Glu, NP_001372916.1:p.Gln670Glu, XP_006719595.1:p.Gln1105Glu, XP_016875228.1:p.Gln587Glu, XP_016875229.1:p.Gln573Glu, XP_016875231.1:p.Gln539Glu, XP_011536924.1:p.Gln972Glu, XP_047285192.1:p.Gln1111Glu, XP_047285193.1:p.Gln777Glu, XP_047285194.1:p.Gln729Glu, XP_047285198.1:p.Gln582Glu, XP_047285199.1:p.Gln579Glu, XP_047285200.1:p.Gln568Glu, XP_047285201.1:p.Gln565Glu, XP_047285206.1:p.Gln531Glu, XP_047285205.1:p.Gln534Glu, XP_047285195.1:p.Gln718Glu, XP_047285196.1:p.Gln615Glu, XP_047285197.1:p.Gln613Glu, XP_047285207.1:p.Gln482Glu, XP_047285208.1:p.Gln448Glu, XP_047285202.1:p.Gln565Glu, XP_047285209.1:p.Gln434Glu

Select item 138934690620.

rs1389346906 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 12:120201332 (GRCh38)
12:120639135 (GRCh37)
Canonical SPDI:: NC_000012.12:120201331:A:C
Gene:: RPLP0 (Varview), PXN-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_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.120201332A>C, NC_000012.11:g.120639135A>C, NM_176827.1:c.-80971A>C, NR_038924.1:n.42A>C

<< First< Prev

Page of 11

Next >Last >>

dbSNP

Result Filters

Clinical Significance

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Nucleotide

Items: 1 to 20 of 205

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity