SNP Links for Nucleotide (Select 999808681) - SNP

Links from Nucleotide

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Select item 14875897441.

rs1487589744 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:101592896 (GRCh38)
3:101311740 (GRCh37)
Canonical SPDI:: NC_000003.12:101592895:A:G
Gene:: PCNP (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000034/9 (TOPMED)
HGVS:: NC_000003.12:g.101592896A>G, NC_000003.11:g.101311740A>G, NM_020357.3:c.*143A>G, NM_020357.2:c.*143A>G, NM_020357.1:c.*143A>G, NR_135227.1:n.1003A>G, NR_135229.1:n.931A>G, NM_001320399.1:c.*143A>G, NR_135232.1:n.845A>G, NM_001320398.1:c.*143A>G, NR_135223.1:n.750A>G, NR_135225.1:n.747A>G, NM_001320395.1:c.*231A>G, NM_001320401.1:c.*143A>G, NM_001320397.1:c.*143A>G, NR_135228.1:n.694A>G, NR_135230.1:n.675A>G, NM_001320400.1:c.*231A>G, NR_135226.1:n.619A>G, NR_135224.1:n.587A>G, NR_135231.1:n.512A>G

Select item 14858729612.

rs1485872961 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:101574179 (GRCh38)
3:101293023 (GRCh37)
Canonical SPDI:: NC_000003.12:101574178:C:T
Gene:: PCNP (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_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_000003.12:g.101574179C>T, NC_000003.11:g.101293023C>T, NM_020357.2:c.-37C>T, NR_135227.1:n.86C>T, NR_135229.1:n.86C>T, NM_001320399.1:c.-223C>T, NR_135232.1:n.86C>T, NM_001320398.1:c.-37C>T, NR_135223.1:n.86C>T, NR_135225.1:n.86C>T, NM_001320395.1:c.-37C>T, NM_001320401.1:c.-37C>T, NM_001320397.1:c.-37C>T, NR_135228.1:n.86C>T, NR_135230.1:n.86C>T, NM_001320400.1:c.-37C>T, NR_135226.1:n.86C>T, NR_135224.1:n.86C>T, NR_135231.1:n.86C>T

Select item 14856451443.

rs1485645144 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 3:101593889 (GRCh38)
3:101312733 (GRCh37)
Canonical SPDI:: NC_000003.12:101593888:T:C,NC_000003.12:101593888:T:G
Gene:: PCNP (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
C=0.000035/1 (TOMMO)
HGVS:: NC_000003.12:g.101593889T>C, NC_000003.12:g.101593889T>G, NC_000003.11:g.101312733T>C, NC_000003.11:g.101312733T>G, NM_020357.3:c.*1136T>C, NM_020357.3:c.*1136T>G, NM_020357.2:c.*1136T>C, NM_020357.2:c.*1136T>G, NM_020357.1:c.*1136T>C, NM_020357.1:c.*1136T>G, NR_135227.1:n.1996T>C, NR_135227.1:n.1996T>G, NR_135229.1:n.1924T>C, NR_135229.1:n.1924T>G, NM_001320399.1:c.*1136T>C, NM_001320399.1:c.*1136T>G, NR_135232.1:n.1838T>C, NR_135232.1:n.1838T>G, NM_001320398.1:c.*1136T>C, NM_001320398.1:c.*1136T>G, NR_135223.1:n.1743T>C, NR_135223.1:n.1743T>G, NR_135225.1:n.1740T>C, NR_135225.1:n.1740T>G, NM_001320395.1:c.*1224T>C, NM_001320395.1:c.*1224T>G, NM_001320401.1:c.*1136T>C, NM_001320401.1:c.*1136T>G, NM_001320397.1:c.*1136T>C, NM_001320397.1:c.*1136T>G, NR_135228.1:n.1687T>C, NR_135228.1:n.1687T>G, NR_135230.1:n.1668T>C, NR_135230.1:n.1668T>G, NM_001320400.1:c.*1224T>C, NM_001320400.1:c.*1224T>G, NR_135226.1:n.1612T>C, NR_135226.1:n.1612T>G, NR_135224.1:n.1580T>C, NR_135224.1:n.1580T>G, NR_135231.1:n.1505T>C, NR_135231.1:n.1505T>G

Select item 14855738294.

rs1485573829 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:101592800 (GRCh38)
3:101311644 (GRCh37)
Canonical SPDI:: NC_000003.12:101592799:A:G
Gene:: PCNP (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.101592800A>G, NC_000003.11:g.101311644A>G, NM_020357.3:c.*47A>G, NM_020357.2:c.*47A>G, NM_020357.1:c.*47A>G, NR_135227.1:n.907A>G, NR_135229.1:n.835A>G, NM_001320399.1:c.*47A>G, NR_135232.1:n.749A>G, NM_001320398.1:c.*47A>G, NR_135223.1:n.654A>G, NR_135225.1:n.651A>G, NM_001320395.1:c.*135A>G, NM_001320401.1:c.*47A>G, NM_001320397.1:c.*47A>G, NR_135228.1:n.598A>G, NR_135230.1:n.579A>G, NM_001320400.1:c.*135A>G, NR_135226.1:n.523A>G, NR_135224.1:n.491A>G, NR_135231.1:n.416A>G

Select item 14846162435.

rs1484616243 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:101592741 (GRCh38)
3:101311585 (GRCh37)
Canonical SPDI:: NC_000003.12:101592740:C:T
Gene:: PCNP (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (GnomAD)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.101592741C>T, NC_000003.11:g.101311585C>T, NM_020357.3:c.525C>T, NM_020357.2:c.525C>T, NM_020357.1:c.525C>T, NR_135227.1:n.848C>T, NR_135229.1:n.776C>T, NM_001320399.1:c.465C>T, NR_135232.1:n.690C>T, NM_001320398.1:c.522C>T, NR_135223.1:n.595C>T, NR_135225.1:n.592C>T, NM_001320395.1:c.*76C>T, NM_001320401.1:c.450C>T, NM_001320397.1:c.426C>T, NR_135228.1:n.539C>T, NR_135230.1:n.520C>T, NM_001320400.1:c.*76C>T, NR_135226.1:n.464C>T, NR_135224.1:n.432C>T, NR_135231.1:n.357C>T

Select item 14838799286.

rs1483879928 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:101579989 (GRCh38)
3:101298833 (GRCh37)
Canonical SPDI:: NC_000003.12:101579988:C:T
Gene:: PCNP (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,intron_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.101579989C>T, NC_000003.11:g.101298833C>T, NM_020357.3:c.264C>T, NM_020357.2:c.264C>T, NM_020357.1:c.264C>T, NR_135227.1:n.587C>T, NM_001320399.1:c.204C>T, NR_135232.1:n.429C>T, NM_001320398.1:c.264C>T, NR_135223.1:n.334C>T, NR_135225.1:n.334C>T, NM_001320395.1:c.264C>T, NM_001320401.1:c.264C>T, NR_135228.1:n.334C>T, NR_135230.1:n.334C>T, NM_001320400.1:c.264C>T, NR_135226.1:n.334C>T

Select item 14838249797.

rs1483824979 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 3:101593013 (GRCh38)
3:101311857 (GRCh37)
Canonical SPDI:: NC_000003.12:101593012:A:C
Gene:: PCNP (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_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_000003.12:g.101593013A>C, NC_000003.11:g.101311857A>C, NM_020357.3:c.*260A>C, NM_020357.2:c.*260A>C, NM_020357.1:c.*260A>C, NR_135227.1:n.1120A>C, NR_135229.1:n.1048A>C, NM_001320399.1:c.*260A>C, NR_135232.1:n.962A>C, NM_001320398.1:c.*260A>C, NR_135223.1:n.867A>C, NR_135225.1:n.864A>C, NM_001320395.1:c.*348A>C, NM_001320401.1:c.*260A>C, NM_001320397.1:c.*260A>C, NR_135228.1:n.811A>C, NR_135230.1:n.792A>C, NM_001320400.1:c.*348A>C, NR_135226.1:n.736A>C, NR_135224.1:n.704A>C, NR_135231.1:n.629A>C

Select item 14824743068.

rs1482474306 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:101594205 (GRCh38)
3:101313049 (GRCh37)
Canonical SPDI:: NC_000003.12:101594204:A:G
Gene:: PCNP (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.101594205A>G, NC_000003.11:g.101313049A>G, NM_020357.3:c.*1452A>G, NM_020357.2:c.*1452A>G, NM_020357.1:c.*1452A>G, NR_135227.1:n.2312A>G, NR_135229.1:n.2240A>G, NM_001320399.1:c.*1452A>G, NR_135232.1:n.2154A>G, NM_001320398.1:c.*1452A>G, NR_135223.1:n.2059A>G, NR_135225.1:n.2056A>G, NM_001320395.1:c.*1540A>G, NM_001320401.1:c.*1452A>G, NM_001320397.1:c.*1452A>G, NR_135228.1:n.2003A>G, NR_135230.1:n.1984A>G, NM_001320400.1:c.*1540A>G, NR_135226.1:n.1928A>G, NR_135224.1:n.1896A>G, NR_135231.1:n.1821A>G

Select item 14788059169.

rs1478805916 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 3:101594011 (GRCh38)
3:101312855 (GRCh37)
Canonical SPDI:: NC_000003.12:101594010:G:A,NC_000003.12:101594010:G:T
Gene:: PCNP (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000036/5 (GnomAD)
T=0.000053/14 (TOPMED)
HGVS:: NC_000003.12:g.101594011G>A, NC_000003.12:g.101594011G>T, NC_000003.11:g.101312855G>A, NC_000003.11:g.101312855G>T, NM_020357.3:c.*1258G>A, NM_020357.3:c.*1258G>T, NM_020357.2:c.*1258G>A, NM_020357.2:c.*1258G>T, NM_020357.1:c.*1258G>A, NM_020357.1:c.*1258G>T, NR_135227.1:n.2118G>A, NR_135227.1:n.2118G>T, NR_135229.1:n.2046G>A, NR_135229.1:n.2046G>T, NM_001320399.1:c.*1258G>A, NM_001320399.1:c.*1258G>T, NR_135232.1:n.1960G>A, NR_135232.1:n.1960G>T, NM_001320398.1:c.*1258G>A, NM_001320398.1:c.*1258G>T, NR_135223.1:n.1865G>A, NR_135223.1:n.1865G>T, NR_135225.1:n.1862G>A, NR_135225.1:n.1862G>T, NM_001320395.1:c.*1346G>A, NM_001320395.1:c.*1346G>T, NM_001320401.1:c.*1258G>A, NM_001320401.1:c.*1258G>T, NM_001320397.1:c.*1258G>A, NM_001320397.1:c.*1258G>T, NR_135228.1:n.1809G>A, NR_135228.1:n.1809G>T, NR_135230.1:n.1790G>A, NR_135230.1:n.1790G>T, NM_001320400.1:c.*1346G>A, NM_001320400.1:c.*1346G>T, NR_135226.1:n.1734G>A, NR_135226.1:n.1734G>T, NR_135224.1:n.1702G>A, NR_135224.1:n.1702G>T, NR_135231.1:n.1627G>A, NR_135231.1:n.1627G>T

Select item 147866884610.

rs1478668846 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:101592758 (GRCh38)
3:101311602 (GRCh37)
Canonical SPDI:: NC_000003.12:101592757:T:C
Gene:: PCNP (Varview)
Functional Consequence:: 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=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.101592758T>C, NC_000003.11:g.101311602T>C, NM_020357.3:c.*5T>C, NM_020357.2:c.*5T>C, NM_020357.1:c.*5T>C, NR_135227.1:n.865T>C, NR_135229.1:n.793T>C, NM_001320399.1:c.*5T>C, NR_135232.1:n.707T>C, NM_001320398.1:c.*5T>C, NR_135223.1:n.612T>C, NR_135225.1:n.609T>C, NM_001320395.1:c.*93T>C, NM_001320401.1:c.*5T>C, NM_001320397.1:c.*5T>C, NR_135228.1:n.556T>C, NR_135230.1:n.537T>C, NM_001320400.1:c.*93T>C, NR_135226.1:n.481T>C, NR_135224.1:n.449T>C, NR_135231.1:n.374T>C

Select item 147678216111.

rs1476782161 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTT>- [Show Flanks]
Chromosome:: 3:101594304 (GRCh38)
3:101313148 (GRCh37)
Canonical SPDI:: NC_000003.12:101594299:TGTTTGTT:TGTT
Gene:: PCNP (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTTTGTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.101594300TGTT[1], NC_000003.11:g.101313144TGTT[1], NM_020357.3:c.*1547TGTT[1], NM_020357.2:c.*1547TGTT[1], NM_020357.1:c.*1547TGTT[1], NR_135227.1:n.2407TGTT[1], NR_135229.1:n.2335TGTT[1], NM_001320399.1:c.*1547TGTT[1], NR_135232.1:n.2249TGTT[1], NM_001320398.1:c.*1547TGTT[1], NR_135223.1:n.2154TGTT[1], NR_135225.1:n.2151TGTT[1], NM_001320395.1:c.*1635TGTT[1], NM_001320401.1:c.*1547TGTT[1], NM_001320397.1:c.*1547TGTT[1], NR_135228.1:n.2098TGTT[1], NR_135230.1:n.2079TGTT[1], NM_001320400.1:c.*1635TGTT[1], NR_135226.1:n.2023TGTT[1], NR_135224.1:n.1991TGTT[1], NR_135231.1:n.1916TGTT[1]

Select item 147614649112.

rs1476146491 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AA [Show Flanks]
Chromosome:: 3:101593329 (GRCh38)
3:101312174 (GRCh37)
Canonical SPDI:: NC_000003.12:101593329:AAAA:AAAAAA
Gene:: PCNP (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAA=0./0 (ALFA)
AA=0.000007/1 (GnomAD)
AA=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.101593332_101593333dup, NC_000003.11:g.101312176_101312177dup, NM_020357.3:c.*579_*580dup, NM_020357.2:c.*579_*580dup, NM_020357.1:c.*579_*580dup, NR_135227.1:n.1439_1440dup, NR_135229.1:n.1367_1368dup, NM_001320399.1:c.*579_*580dup, NR_135232.1:n.1281_1282dup, NM_001320398.1:c.*579_*580dup, NR_135223.1:n.1186_1187dup, NR_135225.1:n.1183_1184dup, NM_001320395.1:c.*667_*668dup, NM_001320401.1:c.*579_*580dup, NM_001320397.1:c.*579_*580dup, NR_135228.1:n.1130_1131dup, NR_135230.1:n.1111_1112dup, NM_001320400.1:c.*667_*668dup, NR_135226.1:n.1055_1056dup, NR_135224.1:n.1023_1024dup, NR_135231.1:n.948_949dup

Select item 147610845213.

rs1476108452 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:101593730 (GRCh38)
3:101312574 (GRCh37)
Canonical SPDI:: NC_000003.12:101593729:G:T
Gene:: PCNP (Varview)
Functional Consequence:: 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_000003.12:g.101593730G>T, NC_000003.11:g.101312574G>T, NM_020357.3:c.*977G>T, NM_020357.2:c.*977G>T, NM_020357.1:c.*977G>T, NR_135227.1:n.1837G>T, NR_135229.1:n.1765G>T, NM_001320399.1:c.*977G>T, NR_135232.1:n.1679G>T, NM_001320398.1:c.*977G>T, NR_135223.1:n.1584G>T, NR_135225.1:n.1581G>T, NM_001320395.1:c.*1065G>T, NM_001320401.1:c.*977G>T, NM_001320397.1:c.*977G>T, NR_135228.1:n.1528G>T, NR_135230.1:n.1509G>T, NM_001320400.1:c.*1065G>T, NR_135226.1:n.1453G>T, NR_135224.1:n.1421G>T, NR_135231.1:n.1346G>T

Select item 147516014514.

rs1475160145 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:101592782 (GRCh38)
3:101311626 (GRCh37)
Canonical SPDI:: NC_000003.12:101592781:G:A
Gene:: PCNP (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.101592782G>A, NC_000003.11:g.101311626G>A, NM_020357.3:c.*29G>A, NM_020357.2:c.*29G>A, NM_020357.1:c.*29G>A, NR_135227.1:n.889G>A, NR_135229.1:n.817G>A, NM_001320399.1:c.*29G>A, NR_135232.1:n.731G>A, NM_001320398.1:c.*29G>A, NR_135223.1:n.636G>A, NR_135225.1:n.633G>A, NM_001320395.1:c.*117G>A, NM_001320401.1:c.*29G>A, NM_001320397.1:c.*29G>A, NR_135228.1:n.580G>A, NR_135230.1:n.561G>A, NM_001320400.1:c.*117G>A, NR_135226.1:n.505G>A, NR_135224.1:n.473G>A, NR_135231.1:n.398G>A

Select item 147513019915.

rs1475130199 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:101593217 (GRCh38)
3:101312061 (GRCh37)
Canonical SPDI:: NC_000003.12:101593216:G:A
Gene:: PCNP (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000003.12:g.101593217G>A, NC_000003.11:g.101312061G>A, NM_020357.3:c.*464G>A, NM_020357.2:c.*464G>A, NM_020357.1:c.*464G>A, NR_135227.1:n.1324G>A, NR_135229.1:n.1252G>A, NM_001320399.1:c.*464G>A, NR_135232.1:n.1166G>A, NM_001320398.1:c.*464G>A, NR_135223.1:n.1071G>A, NR_135225.1:n.1068G>A, NM_001320395.1:c.*552G>A, NM_001320401.1:c.*464G>A, NM_001320397.1:c.*464G>A, NR_135228.1:n.1015G>A, NR_135230.1:n.996G>A, NM_001320400.1:c.*552G>A, NR_135226.1:n.940G>A, NR_135224.1:n.908G>A, NR_135231.1:n.833G>A

Select item 147397301416.

rs1473973014 [Homo sapiens]

Variant type:: DEL
Alleles:: TACTAAAGTA>- [Show Flanks]
Chromosome:: 3:101594406 (GRCh38)
3:101313250 (GRCh37)
Canonical SPDI:: NC_000003.12:101594405:TACTAAAGTA:
Gene:: PCNP (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.101594406_101594415del, NC_000003.11:g.101313250_101313259del, NM_020357.3:c.*1653_*1662del, NM_020357.2:c.*1653_*1662del, NM_020357.1:c.*1653_*1662del, NR_135227.1:n.2513_2522del, NR_135229.1:n.2441_2450del, NM_001320399.1:c.*1653_*1662del, NR_135232.1:n.2355_2364del, NM_001320398.1:c.*1653_*1662del, NR_135223.1:n.2260_2269del, NR_135225.1:n.2257_2266del, NM_001320395.1:c.*1741_*1750del, NM_001320401.1:c.*1653_*1662del, NM_001320397.1:c.*1653_*1662del, NR_135228.1:n.2204_2213del, NR_135230.1:n.2185_2194del, NM_001320400.1:c.*1741_*1750del, NR_135226.1:n.2129_2138del, NR_135224.1:n.2097_2106del, NR_135231.1:n.2022_2031del

Select item 147218523217.

rs1472185232 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 3:101594383 (GRCh38)
3:101313227 (GRCh37)
Canonical SPDI:: NC_000003.12:101594376:GAGAGAGA:GAGAGA
Gene:: PCNP (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAGAGA=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.101594377GA[3], NC_000003.11:g.101313221GA[3], NM_020357.3:c.*1624GA[3], NM_020357.2:c.*1624GA[3], NM_020357.1:c.*1624GA[3], NR_135227.1:n.2484GA[3], NR_135229.1:n.2412GA[3], NM_001320399.1:c.*1624GA[3], NR_135232.1:n.2326GA[3], NM_001320398.1:c.*1624GA[3], NR_135223.1:n.2231GA[3], NR_135225.1:n.2228GA[3], NM_001320395.1:c.*1712GA[3], NM_001320401.1:c.*1624GA[3], NM_001320397.1:c.*1624GA[3], NR_135228.1:n.2175GA[3], NR_135230.1:n.2156GA[3], NM_001320400.1:c.*1712GA[3], NR_135226.1:n.2100GA[3], NR_135224.1:n.2068GA[3], NR_135231.1:n.1993GA[3]

Select item 147185647918.

rs1471856479 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 3:101593177 (GRCh38)
3:101312021 (GRCh37)
Canonical SPDI:: NC_000003.12:101593176:A:T
Gene:: PCNP (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_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_000003.12:g.101593177A>T, NC_000003.11:g.101312021A>T, NM_020357.3:c.*424A>T, NM_020357.2:c.*424A>T, NM_020357.1:c.*424A>T, NR_135227.1:n.1284A>T, NR_135229.1:n.1212A>T, NM_001320399.1:c.*424A>T, NR_135232.1:n.1126A>T, NM_001320398.1:c.*424A>T, NR_135223.1:n.1031A>T, NR_135225.1:n.1028A>T, NM_001320395.1:c.*512A>T, NM_001320401.1:c.*424A>T, NM_001320397.1:c.*424A>T, NR_135228.1:n.975A>T, NR_135230.1:n.956A>T, NM_001320400.1:c.*512A>T, NR_135226.1:n.900A>T, NR_135224.1:n.868A>T, NR_135231.1:n.793A>T

Select item 147173431719.

rs1471734317 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 3:101574249 (GRCh38)
3:101293093 (GRCh37)
Canonical SPDI:: NC_000003.12:101574248:G:A,NC_000003.12:101574248:G:C
Gene:: PCNP (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.00002/3 (GnomAD_exomes)
HGVS:: NC_000003.12:g.101574249G>A, NC_000003.12:g.101574249G>C, NC_000003.11:g.101293093G>A, NC_000003.11:g.101293093G>C, NM_020357.3:c.34G>A, NM_020357.3:c.34G>C, NM_020357.2:c.34G>A, NM_020357.2:c.34G>C, NM_020357.1:c.34G>A, NM_020357.1:c.34G>C, NR_135227.1:n.156G>A, NR_135227.1:n.156G>C, NR_135229.1:n.156G>A, NR_135229.1:n.156G>C, NM_001320399.1:c.-153G>A, NM_001320399.1:c.-153G>C, NR_135232.1:n.156G>A, NR_135232.1:n.156G>C, NM_001320398.1:c.34G>A, NM_001320398.1:c.34G>C, NR_135223.1:n.156G>A, NR_135223.1:n.156G>C, NR_135225.1:n.156G>A, NR_135225.1:n.156G>C, NM_001320395.1:c.34G>A, NM_001320395.1:c.34G>C, NM_001320401.1:c.34G>A, NM_001320401.1:c.34G>C, NM_001320397.1:c.34G>A, NM_001320397.1:c.34G>C, NR_135228.1:n.156G>A, NR_135228.1:n.156G>C, NR_135230.1:n.156G>A, NR_135230.1:n.156G>C, NM_001320400.1:c.34G>A, NM_001320400.1:c.34G>C, NR_135226.1:n.156G>A, NR_135226.1:n.156G>C, NR_135224.1:n.156G>A, NR_135224.1:n.156G>C, NR_135231.1:n.156G>A, NR_135231.1:n.156G>C, NP_065090.1:p.Glu12Lys, NP_065090.1:p.Glu12Gln, NP_001307327.1:p.Glu12Lys, NP_001307327.1:p.Glu12Gln, NP_001307324.1:p.Glu12Lys, NP_001307324.1:p.Glu12Gln, NP_001307330.1:p.Glu12Lys, NP_001307330.1:p.Glu12Gln, NP_001307326.1:p.Glu12Lys, NP_001307326.1:p.Glu12Gln, NP_001307329.1:p.Glu12Lys, NP_001307329.1:p.Glu12Gln

Select item 147046166020.

rs1470461660 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 3:101592767 (GRCh38)
3:101311611 (GRCh37)
Canonical SPDI:: NC_000003.12:101592766:A:T
Gene:: PCNP (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0.0002/1 (ALFA)
HGVS:: NC_000003.12:g.101592767A>T, NC_000003.11:g.101311611A>T, NM_020357.3:c.*14A>T, NM_020357.2:c.*14A>T, NM_020357.1:c.*14A>T, NR_135227.1:n.874A>T, NR_135229.1:n.802A>T, NM_001320399.1:c.*14A>T, NR_135232.1:n.716A>T, NM_001320398.1:c.*14A>T, NR_135223.1:n.621A>T, NR_135225.1:n.618A>T, NM_001320395.1:c.*102A>T, NM_001320401.1:c.*14A>T, NM_001320397.1:c.*14A>T, NR_135228.1:n.565A>T, NR_135230.1:n.546A>T, NM_001320400.1:c.*102A>T, NR_135226.1:n.490A>T, NR_135224.1:n.458A>T, NR_135231.1:n.383A>T

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