SNP Links for Gene (Select 2794) - SNP

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Select item 14913749351.

rs1491374935 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 6:30549004 (GRCh38)
6:30516781 (GRCh37)
Canonical SPDI:: NC_000006.12:30549002:TGT:T
Gene:: GNL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000796/13 (ALFA)
-=0.000668/93 (GnomAD)
HGVS:: NC_000006.12:g.30549004_30549005del, NC_000006.11:g.30516781_30516782del, NT_113891.3:g.2028724_2028725del, NT_113891.2:g.2028830_2028831del, NT_167248.2:g.1804089_1804090del, NT_167248.1:g.1809685_1809686del, NT_167245.2:g.1804828_1804829del, NT_167245.1:g.1810413_1810414del, NT_167249.2:g.1849761_1849762del, NT_167249.1:g.1849059_1849060del, NT_167246.2:g.1859233_1859234del, NT_167246.1:g.1864853_1864854del, NT_167247.2:g.1893050_1893051del, NT_167247.1:g.1898635_1898636del, NT_167244.2:g.1878509_1878510del, NT_167244.1:g.1828425_1828426del

Select item 14908110902.

rs1490811090 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 6:30543679 (GRCh38)
6:30511456 (GRCh37)
Canonical SPDI:: NC_000006.12:30543678:A:T
Gene:: GNL1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.30543679A>T, NC_000006.11:g.30511456A>T, NT_113891.3:g.2023398A>T, NT_113891.2:g.2023504A>T, NT_167248.2:g.1798763A>T, NT_167248.1:g.1804359A>T, NT_167245.2:g.1799502A>T, NT_167245.1:g.1805087A>T, NT_167249.2:g.1844435A>T, NT_167249.1:g.1843733A>T, NT_167246.2:g.1853908A>T, NT_167246.1:g.1859528A>T, NT_167247.2:g.1887725A>T, NT_167247.1:g.1893310A>T, NT_167244.2:g.1873183A>T, NT_167244.1:g.1823099A>T, NM_005275.5:c.*2393T>A, NM_005275.4:c.*2393T>A, NM_005275.3:c.*2393T>A

Select item 14906449993.

rs1490644999 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:30542184 (GRCh38)
6:30509961 (GRCh37)
Canonical SPDI:: NC_000006.12:30542183:C:T
Gene:: GNL1 (Varview)
Functional Consequence:: 3_prime_UTR_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_000006.12:g.30542184C>T, NC_000006.11:g.30509961C>T, NT_113891.3:g.2021903C>T, NT_113891.2:g.2022009C>T, NT_167248.2:g.1797268C>T, NT_167248.1:g.1802864C>T, NT_167245.2:g.1798007C>T, NT_167245.1:g.1803592C>T, NT_167249.2:g.1842940C>T, NT_167249.1:g.1842238C>T, NT_167246.2:g.1852413C>T, NT_167246.1:g.1858033C>T, NT_167247.2:g.1886230C>T, NT_167247.1:g.1891815C>T, NT_167244.2:g.1871688C>T, NT_167244.1:g.1821604C>T, NM_005275.5:c.*3888G>A, NM_005275.4:c.*3888G>A, NM_005275.3:c.*3888G>A

Select item 14906348504.

rs1490634850 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:30545011 (GRCh38)
6:30512788 (GRCh37)
Canonical SPDI:: NC_000006.12:30545010:G:T
Gene:: GNL1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.30545011G>T, NC_000006.11:g.30512788G>T, NT_113891.3:g.2024730G>T, NT_113891.2:g.2024836G>T, NT_167248.2:g.1800095G>T, NT_167248.1:g.1805691G>T, NT_167245.2:g.1800834G>T, NT_167245.1:g.1806419G>T, NT_167249.2:g.1845767G>T, NT_167249.1:g.1845065G>T, NT_167246.2:g.1855240G>T, NT_167246.1:g.1860860G>T, NT_167247.2:g.1889057G>T, NT_167247.1:g.1894642G>T, NT_167244.2:g.1874515G>T, NT_167244.1:g.1824431G>T, NM_005275.5:c.*1061C>A, NM_005275.4:c.*1061C>A, NM_005275.3:c.*1061C>A

Select item 14898167515.

rs1489816751 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 6:30543723 (GRCh38)
6:30511500 (GRCh37)
Canonical SPDI:: NC_000006.12:30543721:TGT:T
Gene:: GNL1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000006.12:g.30543723_30543724del, NC_000006.11:g.30511500_30511501del, NT_113891.3:g.2023442_2023443del, NT_113891.2:g.2023548_2023549del, NT_167248.2:g.1798807_1798808del, NT_167248.1:g.1804403_1804404del, NT_167245.2:g.1799546_1799547del, NT_167245.1:g.1805131_1805132del, NT_167249.2:g.1844479_1844480del, NT_167249.1:g.1843777_1843778del, NT_167246.2:g.1853952_1853953del, NT_167246.1:g.1859572_1859573del, NT_167247.2:g.1887769_1887770del, NT_167247.1:g.1893354_1893355del, NT_167244.2:g.1873227_1873228del, NT_167244.1:g.1823143_1823144del, NM_005275.5:c.*2349_*2350del, NM_005275.4:c.*2349_*2350del, NM_005275.3:c.*2349_*2350del

Select item 14897911806.

rs1489791180 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 6:30557571 (GRCh38)
6:30525348 (GRCh37)
Canonical SPDI:: NC_000006.12:30557570:A:C,NC_000006.12:30557570:A:G
Gene:: GNL1 (Varview), PRR3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.30557571A>C, NC_000006.12:g.30557571A>G, NC_000006.11:g.30525348A>C, NC_000006.11:g.30525348A>G, NT_113891.3:g.2037291A>C, NT_113891.3:g.2037291A>G, NT_113891.2:g.2037397A>C, NT_113891.2:g.2037397A>G, NT_167248.2:g.1812656A>C, NT_167248.2:g.1812656A>G, NT_167248.1:g.1818252A>C, NT_167248.1:g.1818252A>G, NT_167245.2:g.1813395A>C, NT_167245.2:g.1813395A>G, NT_167245.1:g.1818980A>C, NT_167245.1:g.1818980A>G, NT_167249.2:g.1858326A>C, NT_167249.2:g.1858326A>G, NT_167249.1:g.1857624A>C, NT_167249.1:g.1857624A>G, NT_167246.2:g.1867800A>C, NT_167246.2:g.1867800A>G, NT_167246.1:g.1873420A>C, NT_167246.1:g.1873420A>G, NT_167247.2:g.1901617A>C, NT_167247.2:g.1901617A>G, NT_167247.1:g.1907202A>C, NT_167247.1:g.1907202A>G, NM_005275.3:c.-1368T>G, NM_005275.3:c.-1368T>C

Select item 14896349347.

rs1489634934 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 6:30555863 (GRCh38)
6:30523640 (GRCh37)
Canonical SPDI:: NC_000006.12:30555862:C:A,NC_000006.12:30555862:C:T
Gene:: GNL1 (Varview), PRR3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_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_000006.12:g.30555863C>A, NC_000006.12:g.30555863C>T, NC_000006.11:g.30523640C>A, NC_000006.11:g.30523640C>T, NT_113891.3:g.2035583C>A, NT_113891.3:g.2035583C>T, NT_113891.2:g.2035689C>A, NT_113891.2:g.2035689C>T, NT_167248.2:g.1810948C>A, NT_167248.2:g.1810948C>T, NT_167248.1:g.1816544C>A, NT_167248.1:g.1816544C>T, NT_167245.2:g.1811687C>A, NT_167245.2:g.1811687C>T, NT_167245.1:g.1817272C>A, NT_167245.1:g.1817272C>T, NT_167249.2:g.1856618C>A, NT_167249.2:g.1856618C>T, NT_167249.1:g.1855916C>A, NT_167249.1:g.1855916C>T, NT_167246.2:g.1866092C>A, NT_167246.2:g.1866092C>T, NT_167246.1:g.1871712C>A, NT_167246.1:g.1871712C>T, NT_167247.2:g.1899909C>A, NT_167247.2:g.1899909C>T, NT_167247.1:g.1905494C>A, NT_167247.1:g.1905494C>T

Select item 14893221048.

rs1489322104 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:30556677 (GRCh38)
6:30524454 (GRCh37)
Canonical SPDI:: NC_000006.12:30556676:A:C
Gene:: GNL1 (Varview), PRR3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000006.12:g.30556677A>C, NC_000006.11:g.30524454A>C, NT_113891.3:g.2036397A>C, NT_113891.2:g.2036503A>C, NT_167248.2:g.1811762A>C, NT_167248.1:g.1817358A>C, NT_167245.2:g.1812501A>C, NT_167245.1:g.1818086A>C, NT_167249.2:g.1857432A>C, NT_167249.1:g.1856730A>C, NT_167246.2:g.1866906A>C, NT_167246.1:g.1872526A>C, NT_167247.2:g.1900723A>C, NT_167247.1:g.1906308A>C, NM_005275.3:c.-474T>G

Select item 14890874359.

rs1489087435 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:30547727 (GRCh38)
6:30515504 (GRCh37)
Canonical SPDI:: NC_000006.12:30547726:A:C
Gene:: GNL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.30547727A>C, NC_000006.11:g.30515504A>C, NT_113891.3:g.2027446A>C, NT_113891.2:g.2027552A>C, NT_167248.2:g.1802811A>C, NT_167248.1:g.1808407A>C, NT_167245.2:g.1803550A>C, NT_167245.1:g.1809135A>C, NT_167249.2:g.1848483A>C, NT_167249.1:g.1847781A>C, NT_167246.2:g.1857956A>C, NT_167246.1:g.1863576A>C, NT_167247.2:g.1891773A>C, NT_167247.1:g.1897358A>C, NT_167244.2:g.1877231A>C, NT_167244.1:g.1827147A>C

Select item 148891796110.

rs1488917961 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:30548268 (GRCh38)
6:30516045 (GRCh37)
Canonical SPDI:: NC_000006.12:30548267:G:C
Gene:: GNL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000034/9 (TOPMED)
C=0.000036/5 (GnomAD)
HGVS:: NC_000006.12:g.30548268G>C, NC_000006.11:g.30516045G>C, NT_113891.3:g.2027987G>C, NT_113891.2:g.2028093G>C, NT_167248.2:g.1803352G>C, NT_167248.1:g.1808948G>C, NT_167245.2:g.1804091G>C, NT_167245.1:g.1809676G>C, NT_167249.2:g.1849024G>C, NT_167249.1:g.1848322G>C, NT_167246.2:g.1858497G>C, NT_167246.1:g.1864117G>C, NT_167247.2:g.1892314G>C, NT_167247.1:g.1897899G>C, NT_167244.2:g.1877772G>C, NT_167244.1:g.1827688G>C

Select item 148883977411.

rs1488839774 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 6:30557017 (GRCh38)
6:30524794 (GRCh37)
Canonical SPDI:: NC_000006.12:30557016:G:A,NC_000006.12:30557016:G:T
Gene:: GNL1 (Varview), PRR3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.30557017G>A, NC_000006.12:g.30557017G>T, NC_000006.11:g.30524794G>A, NC_000006.11:g.30524794G>T, NT_113891.3:g.2036737G>A, NT_113891.3:g.2036737G>T, NT_113891.2:g.2036843G>A, NT_113891.2:g.2036843G>T, NT_167248.2:g.1812102G>A, NT_167248.2:g.1812102G>T, NT_167248.1:g.1817698G>A, NT_167248.1:g.1817698G>T, NT_167245.2:g.1812841G>A, NT_167245.2:g.1812841G>T, NT_167245.1:g.1818426G>A, NT_167245.1:g.1818426G>T, NT_167249.2:g.1857772G>A, NT_167249.2:g.1857772G>T, NT_167249.1:g.1857070G>A, NT_167249.1:g.1857070G>T, NT_167246.2:g.1867246G>A, NT_167246.2:g.1867246G>T, NT_167246.1:g.1872866G>A, NT_167246.1:g.1872866G>T, NT_167247.2:g.1901063G>A, NT_167247.2:g.1901063G>T, NT_167247.1:g.1906648G>A, NT_167247.1:g.1906648G>T, NM_005275.3:c.-814C>T, NM_005275.3:c.-814C>A, NM_025263.3:c.-328G>A, NM_025263.3:c.-328G>T, NM_001077497.3:c.-328G>A, NM_001077497.3:c.-328G>T, NM_001077497.2:c.-328G>A, NM_001077497.2:c.-328G>T, XM_047419382.1:c.-170G>A, XM_047419382.1:c.-170G>T, XM_047419381.1:c.-170G>A, XM_047419381.1:c.-170G>T

Select item 148859265112.

rs1488592651 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:30548232 (GRCh38)
6:30516009 (GRCh37)
Canonical SPDI:: NC_000006.12:30548231:G:A
Gene:: GNL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.30548232G>A, NC_000006.11:g.30516009G>A, NT_113891.3:g.2027951G>A, NT_113891.2:g.2028057G>A, NT_167248.2:g.1803316G>A, NT_167248.1:g.1808912G>A, NT_167245.2:g.1804055G>A, NT_167245.1:g.1809640G>A, NT_167249.2:g.1848988G>A, NT_167249.1:g.1848286G>A, NT_167246.2:g.1858461G>A, NT_167246.1:g.1864081G>A, NT_167247.2:g.1892278G>A, NT_167247.1:g.1897863G>A, NT_167244.2:g.1877736G>A, NT_167244.1:g.1827652G>A

Select item 148812875113.

rs1488128751 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:30547858 (GRCh38)
6:30515635 (GRCh37)
Canonical SPDI:: NC_000006.12:30547857:G:C
Gene:: GNL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.30547858G>C, NC_000006.11:g.30515635G>C, NT_113891.3:g.2027577G>C, NT_113891.2:g.2027683G>C, NT_167248.2:g.1802942G>C, NT_167248.1:g.1808538G>C, NT_167245.2:g.1803681G>C, NT_167245.1:g.1809266G>C, NT_167249.2:g.1848614G>C, NT_167249.1:g.1847912G>C, NT_167246.2:g.1858087G>C, NT_167246.1:g.1863707G>C, NT_167247.2:g.1891904G>C, NT_167247.1:g.1897489G>C, NT_167244.2:g.1877362G>C, NT_167244.1:g.1827278G>C

Select item 148801449014.

rs1488014490 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:30555679 (GRCh38)
6:30523456 (GRCh37)
Canonical SPDI:: NC_000006.12:30555678:C:T
Gene:: GNL1 (Varview), PRR3 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.30555679C>T, NC_000006.11:g.30523456C>T, NT_113891.3:g.2035399C>T, NT_113891.2:g.2035505C>T, NT_167248.2:g.1810764C>T, NT_167248.1:g.1816360C>T, NT_167245.2:g.1811503C>T, NT_167245.1:g.1817088C>T, NT_167249.2:g.1856434C>T, NT_167249.1:g.1855732C>T, NT_167246.2:g.1865908C>T, NT_167246.1:g.1871528C>T, NT_167247.2:g.1899725C>T, NT_167247.1:g.1905310C>T, NM_005275.5:c.115G>A, NM_005275.4:c.115G>A, NM_005275.3:c.115G>A, NP_005266.2:p.Gly39Arg

Select item 148789170715.

rs1487891707 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:30546159 (GRCh38)
6:30513936 (GRCh37)
Canonical SPDI:: NC_000006.12:30546158:T:C
Gene:: GNL1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.30546159T>C, NC_000006.11:g.30513936T>C, NT_113891.3:g.2025878T>C, NT_113891.2:g.2025984T>C, NT_167248.2:g.1801243T>C, NT_167248.1:g.1806839T>C, NT_167245.2:g.1801982T>C, NT_167245.1:g.1807567T>C, NT_167249.2:g.1846915T>C, NT_167249.1:g.1846213T>C, NT_167246.2:g.1856388T>C, NT_167246.1:g.1862008T>C, NT_167247.2:g.1890205T>C, NT_167247.1:g.1895790T>C, NT_167244.2:g.1875663T>C, NT_167244.1:g.1825579T>C, NM_005275.5:c.1737A>G, NM_005275.4:c.1737A>G, NM_005275.3:c.1737A>G

Select item 148781013116.

rs1487810131 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 6:30558764 (GRCh38)
6:30526541 (GRCh37)
Canonical SPDI:: NC_000006.12:30558763:G:A,NC_000006.12:30558763:G:T
Gene:: PRR3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.30558764G>A, NC_000006.12:g.30558764G>T, NC_000006.11:g.30526541G>A, NC_000006.11:g.30526541G>T, NT_113891.3:g.2038484G>A, NT_113891.3:g.2038484G>T, NT_113891.2:g.2038590G>A, NT_113891.2:g.2038590G>T, NT_167248.2:g.1813849G>A, NT_167248.2:g.1813849G>T, NT_167248.1:g.1819445G>A, NT_167248.1:g.1819445G>T, NT_167245.2:g.1814588G>A, NT_167245.2:g.1814588G>T, NT_167245.1:g.1820173G>A, NT_167245.1:g.1820173G>T, NT_167249.2:g.1859519G>A, NT_167249.2:g.1859519G>T, NT_167249.1:g.1858817G>A, NT_167249.1:g.1858817G>T, NT_167246.2:g.1868993G>A, NT_167246.2:g.1868993G>T, NT_167246.1:g.1874613G>A, NT_167246.1:g.1874613G>T, NT_167247.2:g.1902810G>A, NT_167247.2:g.1902810G>T, NT_167247.1:g.1908395G>A, NT_167247.1:g.1908395G>T

Select item 148761230217.

rs1487612302 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:30550830 (GRCh38)
6:30518607 (GRCh37)
Canonical SPDI:: NC_000006.12:30550829:A:C
Gene:: GNL1 (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_000006.12:g.30550830A>C, NC_000006.11:g.30518607A>C, NT_113891.3:g.2030550A>C, NT_113891.2:g.2030656A>C, NT_167248.2:g.1805915A>C, NT_167248.1:g.1811511A>C, NT_167245.2:g.1806654A>C, NT_167245.1:g.1812239A>C, NT_167249.2:g.1851587A>C, NT_167249.1:g.1850885A>C, NT_167246.2:g.1861059A>C, NT_167246.1:g.1866679A>C, NT_167247.2:g.1894876A>C, NT_167247.1:g.1900461A>C, NT_167244.2:g.1880335A>C, NT_167244.1:g.1830251A>C

Select item 148750114018.

rs1487501140 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATCATATA>- [Show Flanks]
Chromosome:: 6:30558904 (GRCh38)
6:30526681 (GRCh37)
Canonical SPDI:: NC_000006.12:30558900:ATAATCATATA:ATA
Gene:: PRR3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ATA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.30558904_30558911del, NC_000006.11:g.30526681_30526688del, NT_113891.3:g.2038624_2038631del, NT_113891.2:g.2038730_2038737del, NT_167248.2:g.1813989_1813996del, NT_167248.1:g.1819585_1819592del, NT_167245.2:g.1814728_1814735del, NT_167245.1:g.1820313_1820320del, NT_167249.2:g.1859659_1859666del, NT_167249.1:g.1858957_1858964del, NT_167246.2:g.1869133_1869140del, NT_167246.1:g.1874753_1874760del, NT_167247.2:g.1902950_1902957del, NT_167247.1:g.1908535_1908542del

Select item 148726320619.

rs1487263206 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:30556188 (GRCh38)
6:30523965 (GRCh37)
Canonical SPDI:: NC_000006.12:30556187:G:C
Gene:: GNL1 (Varview), PRR3 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
HGVS:: NC_000006.12:g.30556188G>C, NC_000006.11:g.30523965G>C, NT_113891.3:g.2035908G>C, NT_113891.2:g.2036014G>C, NT_167248.2:g.1811273G>C, NT_167248.1:g.1816869G>C, NT_167245.2:g.1812012G>C, NT_167245.1:g.1817597G>C, NT_167249.2:g.1856943G>C, NT_167249.1:g.1856241G>C, NT_167246.2:g.1866417G>C, NT_167246.1:g.1872037G>C, NT_167247.2:g.1900234G>C, NT_167247.1:g.1905819G>C, NM_005275.5:c.16C>G, NM_005275.4:c.16C>G, NM_005275.3:c.16C>G, NP_005266.2:p.Pro6Ala

Select item 148724678620.

rs1487246786 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:30554494 (GRCh38)
6:30522271 (GRCh37)
Canonical SPDI:: NC_000006.12:30554493:T:C
Gene:: GNL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.30554494T>C, NC_000006.11:g.30522271T>C, NT_113891.3:g.2034214T>C, NT_113891.2:g.2034320T>C, NT_167248.2:g.1809579T>C, NT_167248.1:g.1815175T>C, NT_167245.2:g.1810318T>C, NT_167245.1:g.1815903T>C, NT_167249.2:g.1855249T>C, NT_167249.1:g.1854547T>C, NT_167246.2:g.1864723T>C, NT_167246.1:g.1870343T>C, NT_167247.2:g.1898540T>C, NT_167247.1:g.1904125T>C

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