SNP Links for Nucleotide (Select 574288804) - SNP - NCBI

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Links from Nucleotide

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Select item 14913955441.

rs1491395544 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 9:37357691 (GRCh38)
9:37357689 (GRCh37)
Canonical SPDI:: NC_000009.12:37357691:A:AA
Gene:: ZCCHC7 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
A=0.000029/4 (GnomAD)
HGVS:: NC_000009.12:g.37357692dup, NC_000009.11:g.37357689dup, XM_005251608.5:c.*424dup, XM_005251608.4:c.*424dup, XM_005251608.3:c.*424dup, XM_005251608.2:c.*424dup, XM_005251608.1:c.*424dup, XM_005251612.4:c.*424dup, XM_005251612.3:c.*424dup, XM_005251612.2:c.*424dup, XM_005251612.1:c.*424dup, XM_011518051.3:c.*424dup, XM_011518051.2:c.*424dup, XM_011518051.1:c.*424dup, XM_017015199.3:c.*424dup, XM_017015199.2:c.*424dup, XM_017015199.1:c.*424dup, XM_011518050.3:c.*424dup, XM_011518050.2:c.*424dup, XM_011518050.1:c.*424dup, NM_032226.3:c.*424dup, NM_032226.2:c.*424dup, XM_017015198.2:c.*424dup, XM_017015198.1:c.*424dup, NM_001289121.2:c.*424dup, NM_001289121.1:c.*424dup, XM_017015200.2:c.*424dup, XM_017015200.1:c.*424dup, NM_001289120.2:c.*424dup, NM_001289120.1:c.*424dup, XM_017015197.2:c.*424dup, XM_017015197.1:c.*424dup, NM_001289119.2:c.*424dup, NM_001289119.1:c.*424dup, XM_024447691.2:c.*424dup, XM_024447691.1:c.*424dup, XM_047423958.1:c.*424dup, XM_047423960.1:c.*424dup, XM_047423959.1:c.*424dup, XM_047423957.1:c.*424dup, NR_110317.1:n.1598dup, XM_047423962.1:c.*424dup

Select item 14913855952.

rs1491385595 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 9:37357691 (GRCh38)
9:37357688 (GRCh37)
Canonical SPDI:: NC_000009.12:37357690:TA:
Gene:: ZCCHC7 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: -=0.0004/2 (ALFA)
HGVS:: NC_000009.12:g.37357691_37357692del, NC_000009.11:g.37357688_37357689del, XM_005251608.5:c.*423_*424del, XM_005251608.4:c.*423_*424del, XM_005251608.3:c.*423_*424del, XM_005251608.2:c.*423_*424del, XM_005251608.1:c.*423_*424del, XM_005251612.4:c.*423_*424del, XM_005251612.3:c.*423_*424del, XM_005251612.2:c.*423_*424del, XM_005251612.1:c.*423_*424del, XM_011518051.3:c.*423_*424del, XM_011518051.2:c.*423_*424del, XM_011518051.1:c.*423_*424del, XM_017015199.3:c.*423_*424del, XM_017015199.2:c.*423_*424del, XM_017015199.1:c.*423_*424del, XM_011518050.3:c.*423_*424del, XM_011518050.2:c.*423_*424del, XM_011518050.1:c.*423_*424del, NM_032226.3:c.*423_*424del, NM_032226.2:c.*423_*424del, XM_017015198.2:c.*423_*424del, XM_017015198.1:c.*423_*424del, NM_001289121.2:c.*423_*424del, NM_001289121.1:c.*423_*424del, XM_017015200.2:c.*423_*424del, XM_017015200.1:c.*423_*424del, NM_001289120.2:c.*423_*424del, NM_001289120.1:c.*423_*424del, XM_017015197.2:c.*423_*424del, XM_017015197.1:c.*423_*424del, NM_001289119.2:c.*423_*424del, NM_001289119.1:c.*423_*424del, XM_024447691.2:c.*423_*424del, XM_024447691.1:c.*423_*424del, XM_047423958.1:c.*423_*424del, XM_047423960.1:c.*423_*424del, XM_047423959.1:c.*423_*424del, XM_047423957.1:c.*423_*424del, NR_110317.1:n.1597_1598del, XM_047423962.1:c.*423_*424del

Select item 14898695713.

rs1489869571 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 9:37357025 (GRCh38)
9:37357022 (GRCh37)
Canonical SPDI:: NC_000009.12:37357024:T:G
Gene:: ZCCHC7 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.37357025T>G, NC_000009.11:g.37357022T>G, XM_005251608.5:c.1389T>G, XM_005251608.4:c.1389T>G, XM_005251608.3:c.1389T>G, XM_005251608.2:c.1389T>G, XM_005251608.1:c.1389T>G, XM_005251612.4:c.1389T>G, XM_005251612.3:c.1389T>G, XM_005251612.2:c.1389T>G, XM_005251612.1:c.1389T>G, XM_011518051.3:c.807T>G, XM_011518051.2:c.807T>G, XM_011518051.1:c.807T>G, XM_017015199.3:c.795T>G, XM_017015199.2:c.795T>G, XM_017015199.1:c.795T>G, XM_011518050.3:c.1293T>G, XM_011518050.2:c.1293T>G, XM_011518050.1:c.1293T>G, NM_032226.3:c.1389T>G, NM_032226.2:c.1389T>G, XM_017015198.2:c.1293T>G, XM_017015198.1:c.1293T>G, NM_001289121.2:c.1389T>G, NM_001289121.1:c.1389T>G, XM_017015200.2:c.795T>G, XM_017015200.1:c.795T>G, NM_001289120.2:c.1389T>G, NM_001289120.1:c.1389T>G, XM_017015197.2:c.1293T>G, XM_017015197.1:c.1293T>G, NM_001289119.2:c.1389T>G, NM_001289119.1:c.1389T>G, XM_024447691.2:c.795T>G, XM_024447691.1:c.795T>G, XM_047423958.1:c.1293T>G, XM_047423960.1:c.795T>G, XM_047423959.1:c.795T>G, XM_047423957.1:c.1293T>G, NR_110317.1:n.931T>G, XM_047423962.1:c.519T>G

Select item 14893748744.

rs1489374874 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 9:37357698 (GRCh38)
9:37357695 (GRCh37)
Canonical SPDI:: NC_000009.12:37357697:G:C,NC_000009.12:37357697:G:T
Gene:: ZCCHC7 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0.00033/5 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.37357698G>C, NC_000009.12:g.37357698G>T, NC_000009.11:g.37357695G>C, NC_000009.11:g.37357695G>T, XM_005251608.5:c.*430G>C, XM_005251608.5:c.*430G>T, XM_005251608.4:c.*430G>C, XM_005251608.4:c.*430G>T, XM_005251608.3:c.*430G>C, XM_005251608.3:c.*430G>T, XM_005251608.2:c.*430G>C, XM_005251608.2:c.*430G>T, XM_005251608.1:c.*430G>C, XM_005251608.1:c.*430G>T, XM_005251612.4:c.*430G>C, XM_005251612.4:c.*430G>T, XM_005251612.3:c.*430G>C, XM_005251612.3:c.*430G>T, XM_005251612.2:c.*430G>C, XM_005251612.2:c.*430G>T, XM_005251612.1:c.*430G>C, XM_005251612.1:c.*430G>T, XM_011518051.3:c.*430G>C, XM_011518051.3:c.*430G>T, XM_011518051.2:c.*430G>C, XM_011518051.2:c.*430G>T, XM_011518051.1:c.*430G>C, XM_011518051.1:c.*430G>T, XM_017015199.3:c.*430G>C, XM_017015199.3:c.*430G>T, XM_017015199.2:c.*430G>C, XM_017015199.2:c.*430G>T, XM_017015199.1:c.*430G>C, XM_017015199.1:c.*430G>T, XM_011518050.3:c.*430G>C, XM_011518050.3:c.*430G>T, XM_011518050.2:c.*430G>C, XM_011518050.2:c.*430G>T, XM_011518050.1:c.*430G>C, XM_011518050.1:c.*430G>T, NM_032226.3:c.*430G>C, NM_032226.3:c.*430G>T, NM_032226.2:c.*430G>C, NM_032226.2:c.*430G>T, XM_017015198.2:c.*430G>C, XM_017015198.2:c.*430G>T, XM_017015198.1:c.*430G>C, XM_017015198.1:c.*430G>T, NM_001289121.2:c.*430G>C, NM_001289121.2:c.*430G>T, NM_001289121.1:c.*430G>C, NM_001289121.1:c.*430G>T, XM_017015200.2:c.*430G>C, XM_017015200.2:c.*430G>T, XM_017015200.1:c.*430G>C, XM_017015200.1:c.*430G>T, NM_001289120.2:c.*430G>C, NM_001289120.2:c.*430G>T, NM_001289120.1:c.*430G>C, NM_001289120.1:c.*430G>T, XM_017015197.2:c.*430G>C, XM_017015197.2:c.*430G>T, XM_017015197.1:c.*430G>C, XM_017015197.1:c.*430G>T, NM_001289119.2:c.*430G>C, NM_001289119.2:c.*430G>T, NM_001289119.1:c.*430G>C, NM_001289119.1:c.*430G>T, XM_024447691.2:c.*430G>C, XM_024447691.2:c.*430G>T, XM_024447691.1:c.*430G>C, XM_024447691.1:c.*430G>T, XM_047423958.1:c.*430G>C, XM_047423958.1:c.*430G>T, XM_047423960.1:c.*430G>C, XM_047423960.1:c.*430G>T, XM_047423959.1:c.*430G>C, XM_047423959.1:c.*430G>T, XM_047423957.1:c.*430G>C, XM_047423957.1:c.*430G>T, NR_110317.1:n.1604G>C, NR_110317.1:n.1604G>T, XM_047423962.1:c.*430G>C, XM_047423962.1:c.*430G>T

Select item 14870428625.

rs1487042862 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:37304262 (GRCh38)
9:37304259 (GRCh37)
Canonical SPDI:: NC_000009.12:37304261:T:C
Gene:: ZCCHC7 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000015/4 (TOPMED)
HGVS:: NC_000009.12:g.37304262T>C, NC_000009.11:g.37304259T>C, XM_005251608.5:c.729T>C, XM_005251608.4:c.729T>C, XM_005251608.3:c.729T>C, XM_005251608.2:c.729T>C, XM_005251608.1:c.729T>C, XM_005251612.4:c.729T>C, XM_005251612.3:c.729T>C, XM_005251612.2:c.729T>C, XM_005251612.1:c.729T>C, XM_011518051.3:c.147T>C, XM_011518051.2:c.147T>C, XM_011518051.1:c.147T>C, XM_017015199.3:c.135T>C, XM_017015199.2:c.135T>C, XM_017015199.1:c.135T>C, XM_011518050.3:c.729T>C, XM_011518050.2:c.729T>C, XM_011518050.1:c.729T>C, NM_032226.3:c.729T>C, NM_032226.2:c.729T>C, XM_017015198.2:c.729T>C, XM_017015198.1:c.729T>C, NM_001289121.2:c.729T>C, NM_001289121.1:c.729T>C, XM_017015200.2:c.135T>C, XM_017015200.1:c.135T>C, NM_001289120.2:c.729T>C, NM_001289120.1:c.729T>C, XM_017015197.2:c.729T>C, XM_017015197.1:c.729T>C, NM_001289119.2:c.729T>C, NM_001289119.1:c.729T>C, XM_024447691.2:c.135T>C, XM_024447691.1:c.135T>C, XM_047423958.1:c.729T>C, XM_047423960.1:c.135T>C, XM_047423959.1:c.135T>C, XM_047423957.1:c.729T>C, NR_110317.1:n.271T>C, XM_047423962.1:c.-142T>C

Select item 14837031296.

rs1483703129 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:37357200 (GRCh38)
9:37357197 (GRCh37)
Canonical SPDI:: NC_000009.12:37357199:G:A
Gene:: ZCCHC7 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000009.12:g.37357200G>A, NC_000009.11:g.37357197G>A, XM_005251608.5:c.1564G>A, XM_005251608.4:c.1564G>A, XM_005251608.3:c.1564G>A, XM_005251608.2:c.1564G>A, XM_005251608.1:c.1564G>A, XM_005251612.4:c.1564G>A, XM_005251612.3:c.1564G>A, XM_005251612.2:c.1564G>A, XM_005251612.1:c.1564G>A, XM_011518051.3:c.982G>A, XM_011518051.2:c.982G>A, XM_011518051.1:c.982G>A, XM_017015199.3:c.970G>A, XM_017015199.2:c.970G>A, XM_017015199.1:c.970G>A, XM_011518050.3:c.1468G>A, XM_011518050.2:c.1468G>A, XM_011518050.1:c.1468G>A, NM_032226.3:c.1564G>A, NM_032226.2:c.1564G>A, XM_017015198.2:c.1468G>A, XM_017015198.1:c.1468G>A, NM_001289121.2:c.1564G>A, NM_001289121.1:c.1564G>A, XM_017015200.2:c.970G>A, XM_017015200.1:c.970G>A, NM_001289120.2:c.1564G>A, NM_001289120.1:c.1564G>A, XM_017015197.2:c.1468G>A, XM_017015197.1:c.1468G>A, NM_001289119.2:c.1564G>A, NM_001289119.1:c.1564G>A, XM_024447691.2:c.970G>A, XM_024447691.1:c.970G>A, XM_047423958.1:c.1468G>A, XM_047423960.1:c.970G>A, XM_047423959.1:c.970G>A, XM_047423957.1:c.1468G>A, NR_110317.1:n.1106G>A, XM_047423962.1:c.694G>A, XP_005251665.1:p.Glu522Lys, XP_005251669.1:p.Glu522Lys, XP_011516353.1:p.Glu328Lys, XP_016870688.1:p.Glu324Lys, XP_011516352.1:p.Glu490Lys, NP_115602.2:p.Glu522Lys, XP_016870687.1:p.Glu490Lys, NP_001276050.1:p.Glu522Lys, XP_016870689.1:p.Glu324Lys, NP_001276049.1:p.Glu522Lys, XP_016870686.1:p.Glu490Lys, NP_001276048.1:p.Glu522Lys, XP_024303459.1:p.Glu324Lys, XP_047279914.1:p.Glu490Lys, XP_047279916.1:p.Glu324Lys, XP_047279915.1:p.Glu324Lys, XP_047279913.1:p.Glu490Lys, XP_047279918.1:p.Glu232Lys

Select item 14815799987.

rs1481579998 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 9:37357257 (GRCh38)
9:37357254 (GRCh37)
Canonical SPDI:: NC_000009.12:37357256:A:G,NC_000009.12:37357256:A:T
Gene:: ZCCHC7 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.37357257A>G, NC_000009.12:g.37357257A>T, NC_000009.11:g.37357254A>G, NC_000009.11:g.37357254A>T, XM_005251608.5:c.1621A>G, XM_005251608.5:c.1621A>T, XM_005251608.4:c.1621A>G, XM_005251608.4:c.1621A>T, XM_005251608.3:c.1621A>G, XM_005251608.3:c.1621A>T, XM_005251608.2:c.1621A>G, XM_005251608.2:c.1621A>T, XM_005251608.1:c.1621A>G, XM_005251608.1:c.1621A>T, XM_005251612.4:c.1621A>G, XM_005251612.4:c.1621A>T, XM_005251612.3:c.1621A>G, XM_005251612.3:c.1621A>T, XM_005251612.2:c.1621A>G, XM_005251612.2:c.1621A>T, XM_005251612.1:c.1621A>G, XM_005251612.1:c.1621A>T, XM_011518051.3:c.1039A>G, XM_011518051.3:c.1039A>T, XM_011518051.2:c.1039A>G, XM_011518051.2:c.1039A>T, XM_011518051.1:c.1039A>G, XM_011518051.1:c.1039A>T, XM_017015199.3:c.1027A>G, XM_017015199.3:c.1027A>T, XM_017015199.2:c.1027A>G, XM_017015199.2:c.1027A>T, XM_017015199.1:c.1027A>G, XM_017015199.1:c.1027A>T, XM_011518050.3:c.1525A>G, XM_011518050.3:c.1525A>T, XM_011518050.2:c.1525A>G, XM_011518050.2:c.1525A>T, XM_011518050.1:c.1525A>G, XM_011518050.1:c.1525A>T, NM_032226.3:c.1621A>G, NM_032226.3:c.1621A>T, NM_032226.2:c.1621A>G, NM_032226.2:c.1621A>T, XM_017015198.2:c.1525A>G, XM_017015198.2:c.1525A>T, XM_017015198.1:c.1525A>G, XM_017015198.1:c.1525A>T, NM_001289121.2:c.1621A>G, NM_001289121.2:c.1621A>T, NM_001289121.1:c.1621A>G, NM_001289121.1:c.1621A>T, XM_017015200.2:c.1027A>G, XM_017015200.2:c.1027A>T, XM_017015200.1:c.1027A>G, XM_017015200.1:c.1027A>T, NM_001289120.2:c.1621A>G, NM_001289120.2:c.1621A>T, NM_001289120.1:c.1621A>G, NM_001289120.1:c.1621A>T, XM_017015197.2:c.1525A>G, XM_017015197.2:c.1525A>T, XM_017015197.1:c.1525A>G, XM_017015197.1:c.1525A>T, NM_001289119.2:c.1621A>G, NM_001289119.2:c.1621A>T, NM_001289119.1:c.1621A>G, NM_001289119.1:c.1621A>T, XM_024447691.2:c.1027A>G, XM_024447691.2:c.1027A>T, XM_024447691.1:c.1027A>G, XM_024447691.1:c.1027A>T, XM_047423958.1:c.1525A>G, XM_047423958.1:c.1525A>T, XM_047423960.1:c.1027A>G, XM_047423960.1:c.1027A>T, XM_047423959.1:c.1027A>G, XM_047423959.1:c.1027A>T, XM_047423957.1:c.1525A>G, XM_047423957.1:c.1525A>T, NR_110317.1:n.1163A>G, NR_110317.1:n.1163A>T, XM_047423962.1:c.751A>G, XM_047423962.1:c.751A>T, XP_005251665.1:p.Lys541Glu, XP_005251665.1:p.Lys541Ter, XP_005251669.1:p.Lys541Glu, XP_005251669.1:p.Lys541Ter, XP_011516353.1:p.Lys347Glu, XP_011516353.1:p.Lys347Ter, XP_016870688.1:p.Lys343Glu, XP_016870688.1:p.Lys343Ter, XP_011516352.1:p.Lys509Glu, XP_011516352.1:p.Lys509Ter, NP_115602.2:p.Lys541Glu, NP_115602.2:p.Lys541Ter, XP_016870687.1:p.Lys509Glu, XP_016870687.1:p.Lys509Ter, NP_001276050.1:p.Lys541Glu, NP_001276050.1:p.Lys541Ter, XP_016870689.1:p.Lys343Glu, XP_016870689.1:p.Lys343Ter, NP_001276049.1:p.Lys541Glu, NP_001276049.1:p.Lys541Ter, XP_016870686.1:p.Lys509Glu, XP_016870686.1:p.Lys509Ter, NP_001276048.1:p.Lys541Glu, NP_001276048.1:p.Lys541Ter, XP_024303459.1:p.Lys343Glu, XP_024303459.1:p.Lys343Ter, XP_047279914.1:p.Lys509Glu, XP_047279914.1:p.Lys509Ter, XP_047279916.1:p.Lys343Glu, XP_047279916.1:p.Lys343Ter, XP_047279915.1:p.Lys343Glu, XP_047279915.1:p.Lys343Ter, XP_047279913.1:p.Lys509Glu, XP_047279913.1:p.Lys509Ter, XP_047279918.1:p.Lys251Glu, XP_047279918.1:p.Lys251Ter

Select item 14812509888.

rs1481250988 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:37327815 (GRCh38)
9:37327812 (GRCh37)
Canonical SPDI:: NC_000009.12:37327814:G:A
Gene:: ZCCHC7 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.37327815G>A, NC_000009.11:g.37327812G>A, XM_005251608.5:c.968G>A, XM_005251608.4:c.968G>A, XM_005251608.3:c.968G>A, XM_005251608.2:c.968G>A, XM_005251608.1:c.968G>A, XM_005251612.4:c.968G>A, XM_005251612.3:c.968G>A, XM_005251612.2:c.968G>A, XM_005251612.1:c.968G>A, XM_011518051.3:c.386G>A, XM_011518051.2:c.386G>A, XM_011518051.1:c.386G>A, XM_017015199.3:c.374G>A, XM_017015199.2:c.374G>A, XM_017015199.1:c.374G>A, XM_011518050.3:c.968G>A, XM_011518050.2:c.968G>A, XM_011518050.1:c.968G>A, NM_032226.3:c.968G>A, NM_032226.2:c.968G>A, XM_017015198.2:c.968G>A, XM_017015198.1:c.968G>A, NM_001289121.2:c.968G>A, NM_001289121.1:c.968G>A, XM_017015200.2:c.374G>A, XM_017015200.1:c.374G>A, NM_001289120.2:c.968G>A, NM_001289120.1:c.968G>A, XM_017015197.2:c.968G>A, XM_017015197.1:c.968G>A, NM_001289119.2:c.968G>A, NM_001289119.1:c.968G>A, XM_024447691.2:c.374G>A, XM_024447691.1:c.374G>A, XM_047423958.1:c.968G>A, XM_047423960.1:c.374G>A, XM_047423959.1:c.374G>A, XM_047423957.1:c.968G>A, NR_110317.1:n.510G>A, XM_047423962.1:c.98G>A, XP_005251665.1:p.Trp323Ter, XP_005251669.1:p.Trp323Ter, XP_011516353.1:p.Trp129Ter, XP_016870688.1:p.Trp125Ter, XP_011516352.1:p.Trp323Ter, NP_115602.2:p.Trp323Ter, XP_016870687.1:p.Trp323Ter, NP_001276050.1:p.Trp323Ter, XP_016870689.1:p.Trp125Ter, NP_001276049.1:p.Trp323Ter, XP_016870686.1:p.Trp323Ter, NP_001276048.1:p.Trp323Ter, XP_024303459.1:p.Trp125Ter, XP_047279914.1:p.Trp323Ter, XP_047279916.1:p.Trp125Ter, XP_047279915.1:p.Trp125Ter, XP_047279913.1:p.Trp323Ter, XP_047279918.1:p.Trp33Ter

Select item 14798945169.

rs1479894516 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 9:37349451 (GRCh38)
9:37349448 (GRCh37)
Canonical SPDI:: NC_000009.12:37349450:A:C
Gene:: ZCCHC7 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.37349451A>C, NC_000009.11:g.37349448A>C, XM_005251608.5:c.1082A>C, XM_005251608.4:c.1082A>C, XM_005251608.3:c.1082A>C, XM_005251608.2:c.1082A>C, XM_005251608.1:c.1082A>C, XM_005251612.4:c.1082A>C, XM_005251612.3:c.1082A>C, XM_005251612.2:c.1082A>C, XM_005251612.1:c.1082A>C, XM_011518051.3:c.500A>C, XM_011518051.2:c.500A>C, XM_011518051.1:c.500A>C, XM_017015199.3:c.488A>C, XM_017015199.2:c.488A>C, XM_017015199.1:c.488A>C, NM_032226.3:c.1082A>C, NM_032226.2:c.1082A>C, NM_001289121.2:c.1082A>C, NM_001289121.1:c.1082A>C, XM_017015200.2:c.488A>C, XM_017015200.1:c.488A>C, NM_001289120.2:c.1082A>C, NM_001289120.1:c.1082A>C, NM_001289119.2:c.1082A>C, NM_001289119.1:c.1082A>C, XM_024447691.2:c.488A>C, XM_024447691.1:c.488A>C, XM_047423960.1:c.488A>C, XM_047423959.1:c.488A>C, NR_110317.1:n.624A>C, XM_047423962.1:c.212A>C, XP_005251665.1:p.His361Pro, XP_005251669.1:p.His361Pro, XP_011516353.1:p.His167Pro, XP_016870688.1:p.His163Pro, NP_115602.2:p.His361Pro, NP_001276050.1:p.His361Pro, XP_016870689.1:p.His163Pro, NP_001276049.1:p.His361Pro, NP_001276048.1:p.His361Pro, XP_024303459.1:p.His163Pro, XP_047279916.1:p.His163Pro, XP_047279915.1:p.His163Pro, XP_047279918.1:p.His71Pro

Select item 147956892310.

rs1479568923 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:37356934 (GRCh38)
9:37356931 (GRCh37)
Canonical SPDI:: NC_000009.12:37356933:C:T
Gene:: ZCCHC7 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.37356934C>T, NC_000009.11:g.37356931C>T, XM_005251608.5:c.1298C>T, XM_005251608.4:c.1298C>T, XM_005251608.3:c.1298C>T, XM_005251608.2:c.1298C>T, XM_005251608.1:c.1298C>T, XM_005251612.4:c.1298C>T, XM_005251612.3:c.1298C>T, XM_005251612.2:c.1298C>T, XM_005251612.1:c.1298C>T, XM_011518051.3:c.716C>T, XM_011518051.2:c.716C>T, XM_011518051.1:c.716C>T, XM_017015199.3:c.704C>T, XM_017015199.2:c.704C>T, XM_017015199.1:c.704C>T, XM_011518050.3:c.1202C>T, XM_011518050.2:c.1202C>T, XM_011518050.1:c.1202C>T, NM_032226.3:c.1298C>T, NM_032226.2:c.1298C>T, XM_017015198.2:c.1202C>T, XM_017015198.1:c.1202C>T, NM_001289121.2:c.1298C>T, NM_001289121.1:c.1298C>T, XM_017015200.2:c.704C>T, XM_017015200.1:c.704C>T, NM_001289120.2:c.1298C>T, NM_001289120.1:c.1298C>T, XM_017015197.2:c.1202C>T, XM_017015197.1:c.1202C>T, NM_001289119.2:c.1298C>T, NM_001289119.1:c.1298C>T, XM_024447691.2:c.704C>T, XM_024447691.1:c.704C>T, XM_047423958.1:c.1202C>T, XM_047423960.1:c.704C>T, XM_047423959.1:c.704C>T, XM_047423957.1:c.1202C>T, NR_110317.1:n.840C>T, XM_047423962.1:c.428C>T, XP_005251665.1:p.Ser433Leu, XP_005251669.1:p.Ser433Leu, XP_011516353.1:p.Ser239Leu, XP_016870688.1:p.Ser235Leu, XP_011516352.1:p.Ser401Leu, NP_115602.2:p.Ser433Leu, XP_016870687.1:p.Ser401Leu, NP_001276050.1:p.Ser433Leu, XP_016870689.1:p.Ser235Leu, NP_001276049.1:p.Ser433Leu, XP_016870686.1:p.Ser401Leu, NP_001276048.1:p.Ser433Leu, XP_024303459.1:p.Ser235Leu, XP_047279914.1:p.Ser401Leu, XP_047279916.1:p.Ser235Leu, XP_047279915.1:p.Ser235Leu, XP_047279913.1:p.Ser401Leu, XP_047279918.1:p.Ser143Leu

Select item 147754686811.

rs1477546868 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 9:37357807 (GRCh38)
9:37357804 (GRCh37)
Canonical SPDI:: NC_000009.12:37357806:C:A
Gene:: ZCCHC7 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.37357807C>A, NC_000009.11:g.37357804C>A, XM_005251608.5:c.*539C>A, XM_005251608.4:c.*539C>A, XM_005251608.3:c.*539C>A, XM_005251608.2:c.*539C>A, XM_005251608.1:c.*539C>A, XM_005251612.4:c.*539C>A, XM_005251612.3:c.*539C>A, XM_005251612.2:c.*539C>A, XM_005251612.1:c.*539C>A, XM_011518051.3:c.*539C>A, XM_011518051.2:c.*539C>A, XM_011518051.1:c.*539C>A, XM_017015199.3:c.*539C>A, XM_017015199.2:c.*539C>A, XM_017015199.1:c.*539C>A, XM_011518050.3:c.*539C>A, XM_011518050.2:c.*539C>A, XM_011518050.1:c.*539C>A, NM_032226.3:c.*539C>A, NM_032226.2:c.*539C>A, XM_017015198.2:c.*539C>A, XM_017015198.1:c.*539C>A, NM_001289121.2:c.*539C>A, NM_001289121.1:c.*539C>A, XM_017015200.2:c.*539C>A, XM_017015200.1:c.*539C>A, NM_001289120.2:c.*539C>A, NM_001289120.1:c.*539C>A, XM_017015197.2:c.*539C>A, XM_017015197.1:c.*539C>A, NM_001289119.2:c.*539C>A, NM_001289119.1:c.*539C>A, XM_024447691.2:c.*539C>A, XM_024447691.1:c.*539C>A, XM_047423958.1:c.*539C>A, XM_047423960.1:c.*539C>A, XM_047423959.1:c.*539C>A, XM_047423957.1:c.*539C>A, NR_110317.1:n.1713C>A, XM_047423962.1:c.*539C>A

Select item 147644989712.

rs1476449897 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 9:37357160 (GRCh38)
9:37357157 (GRCh37)
Canonical SPDI:: NC_000009.12:37357159:G:C
Gene:: ZCCHC7 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.37357160G>C, NC_000009.11:g.37357157G>C, XM_005251608.5:c.1524G>C, XM_005251608.4:c.1524G>C, XM_005251608.3:c.1524G>C, XM_005251608.2:c.1524G>C, XM_005251608.1:c.1524G>C, XM_005251612.4:c.1524G>C, XM_005251612.3:c.1524G>C, XM_005251612.2:c.1524G>C, XM_005251612.1:c.1524G>C, XM_011518051.3:c.942G>C, XM_011518051.2:c.942G>C, XM_011518051.1:c.942G>C, XM_017015199.3:c.930G>C, XM_017015199.2:c.930G>C, XM_017015199.1:c.930G>C, XM_011518050.3:c.1428G>C, XM_011518050.2:c.1428G>C, XM_011518050.1:c.1428G>C, NM_032226.3:c.1524G>C, NM_032226.2:c.1524G>C, XM_017015198.2:c.1428G>C, XM_017015198.1:c.1428G>C, NM_001289121.2:c.1524G>C, NM_001289121.1:c.1524G>C, XM_017015200.2:c.930G>C, XM_017015200.1:c.930G>C, NM_001289120.2:c.1524G>C, NM_001289120.1:c.1524G>C, XM_017015197.2:c.1428G>C, XM_017015197.1:c.1428G>C, NM_001289119.2:c.1524G>C, NM_001289119.1:c.1524G>C, XM_024447691.2:c.930G>C, XM_024447691.1:c.930G>C, XM_047423958.1:c.1428G>C, XM_047423960.1:c.930G>C, XM_047423959.1:c.930G>C, XM_047423957.1:c.1428G>C, NR_110317.1:n.1066G>C, XM_047423962.1:c.654G>C, XP_005251665.1:p.Lys508Asn, XP_005251669.1:p.Lys508Asn, XP_011516353.1:p.Lys314Asn, XP_016870688.1:p.Lys310Asn, XP_011516352.1:p.Lys476Asn, NP_115602.2:p.Lys508Asn, XP_016870687.1:p.Lys476Asn, NP_001276050.1:p.Lys508Asn, XP_016870689.1:p.Lys310Asn, NP_001276049.1:p.Lys508Asn, XP_016870686.1:p.Lys476Asn, NP_001276048.1:p.Lys508Asn, XP_024303459.1:p.Lys310Asn, XP_047279914.1:p.Lys476Asn, XP_047279916.1:p.Lys310Asn, XP_047279915.1:p.Lys310Asn, XP_047279913.1:p.Lys476Asn, XP_047279918.1:p.Lys218Asn

Select item 147593429013.

rs1475934290 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:37120510 (GRCh38)
9:37120507 (GRCh37)
Canonical SPDI:: NC_000009.12:37120509:C:T
Gene:: ZCCHC7 (Varview), LOC105376034 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant,intron_variant,5_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000009.12:g.37120510C>T, NC_000009.11:g.37120507C>T, XM_017015199.3:c.-685C>T, XM_017015199.1:c.-685C>T, XM_011518050.3:c.-135C>T, XM_011518050.1:c.-135C>T, NM_032226.2:c.-135C>T, NM_001289119.1:c.-139C>T, NR_110317.1:n.39C>T

Select item 147358179414.

rs1473581794 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:37304270 (GRCh38)
9:37304267 (GRCh37)
Canonical SPDI:: NC_000009.12:37304269:G:A
Gene:: ZCCHC7 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.37304270G>A, NC_000009.11:g.37304267G>A, XM_005251608.5:c.737G>A, XM_005251608.4:c.737G>A, XM_005251608.3:c.737G>A, XM_005251608.2:c.737G>A, XM_005251608.1:c.737G>A, XM_005251612.4:c.737G>A, XM_005251612.3:c.737G>A, XM_005251612.2:c.737G>A, XM_005251612.1:c.737G>A, XM_011518051.3:c.155G>A, XM_011518051.2:c.155G>A, XM_011518051.1:c.155G>A, XM_017015199.3:c.143G>A, XM_017015199.2:c.143G>A, XM_017015199.1:c.143G>A, XM_011518050.3:c.737G>A, XM_011518050.2:c.737G>A, XM_011518050.1:c.737G>A, NM_032226.3:c.737G>A, NM_032226.2:c.737G>A, XM_017015198.2:c.737G>A, XM_017015198.1:c.737G>A, NM_001289121.2:c.737G>A, NM_001289121.1:c.737G>A, XM_017015200.2:c.143G>A, XM_017015200.1:c.143G>A, NM_001289120.2:c.737G>A, NM_001289120.1:c.737G>A, XM_017015197.2:c.737G>A, XM_017015197.1:c.737G>A, NM_001289119.2:c.737G>A, NM_001289119.1:c.737G>A, XM_024447691.2:c.143G>A, XM_024447691.1:c.143G>A, XM_047423958.1:c.737G>A, XM_047423960.1:c.143G>A, XM_047423959.1:c.143G>A, XM_047423957.1:c.737G>A, NR_110317.1:n.279G>A, XM_047423962.1:c.-134G>A, XP_005251665.1:p.Cys246Tyr, XP_005251669.1:p.Cys246Tyr, XP_011516353.1:p.Cys52Tyr, XP_016870688.1:p.Cys48Tyr, XP_011516352.1:p.Cys246Tyr, NP_115602.2:p.Cys246Tyr, XP_016870687.1:p.Cys246Tyr, NP_001276050.1:p.Cys246Tyr, XP_016870689.1:p.Cys48Tyr, NP_001276049.1:p.Cys246Tyr, XP_016870686.1:p.Cys246Tyr, NP_001276048.1:p.Cys246Tyr, XP_024303459.1:p.Cys48Tyr, XP_047279914.1:p.Cys246Tyr, XP_047279916.1:p.Cys48Tyr, XP_047279915.1:p.Cys48Tyr, XP_047279913.1:p.Cys246Tyr

Select item 147278204115.

rs1472782041 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 9:37358023 (GRCh38)
9:37358020 (GRCh37)
Canonical SPDI:: NC_000009.12:37358022:A:G,NC_000009.12:37358022:A:T
Gene:: ZCCHC7 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.37358023A>G, NC_000009.12:g.37358023A>T, NC_000009.11:g.37358020A>G, NC_000009.11:g.37358020A>T, XM_005251608.5:c.*755A>G, XM_005251608.5:c.*755A>T, XM_005251608.4:c.*755A>G, XM_005251608.4:c.*755A>T, XM_005251608.3:c.*755A>G, XM_005251608.3:c.*755A>T, XM_005251608.2:c.*755A>G, XM_005251608.2:c.*755A>T, XM_005251608.1:c.*755A>G, XM_005251608.1:c.*755A>T, XM_005251612.4:c.*755A>G, XM_005251612.4:c.*755A>T, XM_005251612.3:c.*755A>G, XM_005251612.3:c.*755A>T, XM_005251612.2:c.*755A>G, XM_005251612.2:c.*755A>T, XM_005251612.1:c.*755A>G, XM_005251612.1:c.*755A>T, XM_011518051.3:c.*755A>G, XM_011518051.3:c.*755A>T, XM_011518051.2:c.*755A>G, XM_011518051.2:c.*755A>T, XM_011518051.1:c.*755A>G, XM_011518051.1:c.*755A>T, XM_017015199.3:c.*755A>G, XM_017015199.3:c.*755A>T, XM_017015199.2:c.*755A>G, XM_017015199.2:c.*755A>T, XM_017015199.1:c.*755A>G, XM_017015199.1:c.*755A>T, XM_011518050.3:c.*755A>G, XM_011518050.3:c.*755A>T, XM_011518050.2:c.*755A>G, XM_011518050.2:c.*755A>T, XM_011518050.1:c.*755A>G, XM_011518050.1:c.*755A>T, NM_032226.3:c.*755A>G, NM_032226.3:c.*755A>T, NM_032226.2:c.*755A>G, NM_032226.2:c.*755A>T, XM_017015198.2:c.*755A>G, XM_017015198.2:c.*755A>T, XM_017015198.1:c.*755A>G, XM_017015198.1:c.*755A>T, NM_001289121.2:c.*755A>G, NM_001289121.2:c.*755A>T, NM_001289121.1:c.*755A>G, NM_001289121.1:c.*755A>T, XM_017015200.2:c.*755A>G, XM_017015200.2:c.*755A>T, XM_017015200.1:c.*755A>G, XM_017015200.1:c.*755A>T, NM_001289120.2:c.*755A>G, NM_001289120.2:c.*755A>T, NM_001289120.1:c.*755A>G, NM_001289120.1:c.*755A>T, XM_017015197.2:c.*755A>G, XM_017015197.2:c.*755A>T, XM_017015197.1:c.*755A>G, XM_017015197.1:c.*755A>T, NM_001289119.2:c.*755A>G, NM_001289119.2:c.*755A>T, NM_001289119.1:c.*755A>G, NM_001289119.1:c.*755A>T, XM_024447691.2:c.*755A>G, XM_024447691.2:c.*755A>T, XM_024447691.1:c.*755A>G, XM_024447691.1:c.*755A>T, XM_047423958.1:c.*755A>G, XM_047423958.1:c.*755A>T, XM_047423960.1:c.*755A>G, XM_047423960.1:c.*755A>T, XM_047423959.1:c.*755A>G, XM_047423959.1:c.*755A>T, XM_047423957.1:c.*755A>G, XM_047423957.1:c.*755A>T, NR_110317.1:n.1929A>G, NR_110317.1:n.1929A>T, XM_047423962.1:c.*755A>G, XM_047423962.1:c.*755A>T

Select item 147188838216.

rs1471888382 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 9:37357949 (GRCh38)
9:37357946 (GRCh37)
Canonical SPDI:: NC_000009.12:37357948:TTTTTT:TTTTT
Gene:: ZCCHC7 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTT=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000009.12:g.37357954del, NC_000009.11:g.37357951del, XM_005251608.5:c.*686del, XM_005251608.4:c.*686del, XM_005251608.3:c.*686del, XM_005251608.2:c.*686del, XM_005251608.1:c.*686del, XM_005251612.4:c.*686del, XM_005251612.3:c.*686del, XM_005251612.2:c.*686del, XM_005251612.1:c.*686del, XM_011518051.3:c.*686del, XM_011518051.2:c.*686del, XM_011518051.1:c.*686del, XM_017015199.3:c.*686del, XM_017015199.2:c.*686del, XM_017015199.1:c.*686del, XM_011518050.3:c.*686del, XM_011518050.2:c.*686del, XM_011518050.1:c.*686del, NM_032226.3:c.*686del, NM_032226.2:c.*686del, XM_017015198.2:c.*686del, XM_017015198.1:c.*686del, NM_001289121.2:c.*686del, NM_001289121.1:c.*686del, XM_017015200.2:c.*686del, XM_017015200.1:c.*686del, NM_001289120.2:c.*686del, NM_001289120.1:c.*686del, XM_017015197.2:c.*686del, XM_017015197.1:c.*686del, NM_001289119.2:c.*686del, NM_001289119.1:c.*686del, XM_024447691.2:c.*686del, XM_024447691.1:c.*686del, XM_047423958.1:c.*686del, XM_047423960.1:c.*686del, XM_047423959.1:c.*686del, XM_047423957.1:c.*686del, NR_110317.1:n.1860del, XM_047423962.1:c.*686del

Select item 146955935217.

rs1469559352 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 9:37357277 (GRCh38)
9:37357274 (GRCh37)
Canonical SPDI:: NC_000009.12:37357276:G:A,NC_000009.12:37357276:G:T
Gene:: ZCCHC7 (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)
HGVS:: NC_000009.12:g.37357277G>A, NC_000009.12:g.37357277G>T, NC_000009.11:g.37357274G>A, NC_000009.11:g.37357274G>T, XM_005251608.5:c.*9G>A, XM_005251608.5:c.*9G>T, XM_005251608.4:c.*9G>A, XM_005251608.4:c.*9G>T, XM_005251608.3:c.*9G>A, XM_005251608.3:c.*9G>T, XM_005251608.2:c.*9G>A, XM_005251608.2:c.*9G>T, XM_005251608.1:c.*9G>A, XM_005251608.1:c.*9G>T, XM_005251612.4:c.*9G>A, XM_005251612.4:c.*9G>T, XM_005251612.3:c.*9G>A, XM_005251612.3:c.*9G>T, XM_005251612.2:c.*9G>A, XM_005251612.2:c.*9G>T, XM_005251612.1:c.*9G>A, XM_005251612.1:c.*9G>T, XM_011518051.3:c.*9G>A, XM_011518051.3:c.*9G>T, XM_011518051.2:c.*9G>A, XM_011518051.2:c.*9G>T, XM_011518051.1:c.*9G>A, XM_011518051.1:c.*9G>T, XM_017015199.3:c.*9G>A, XM_017015199.3:c.*9G>T, XM_017015199.2:c.*9G>A, XM_017015199.2:c.*9G>T, XM_017015199.1:c.*9G>A, XM_017015199.1:c.*9G>T, XM_011518050.3:c.*9G>A, XM_011518050.3:c.*9G>T, XM_011518050.2:c.*9G>A, XM_011518050.2:c.*9G>T, XM_011518050.1:c.*9G>A, XM_011518050.1:c.*9G>T, NM_032226.3:c.*9G>A, NM_032226.3:c.*9G>T, NM_032226.2:c.*9G>A, NM_032226.2:c.*9G>T, XM_017015198.2:c.*9G>A, XM_017015198.2:c.*9G>T, XM_017015198.1:c.*9G>A, XM_017015198.1:c.*9G>T, NM_001289121.2:c.*9G>A, NM_001289121.2:c.*9G>T, NM_001289121.1:c.*9G>A, NM_001289121.1:c.*9G>T, XM_017015200.2:c.*9G>A, XM_017015200.2:c.*9G>T, XM_017015200.1:c.*9G>A, XM_017015200.1:c.*9G>T, NM_001289120.2:c.*9G>A, NM_001289120.2:c.*9G>T, NM_001289120.1:c.*9G>A, NM_001289120.1:c.*9G>T, XM_017015197.2:c.*9G>A, XM_017015197.2:c.*9G>T, XM_017015197.1:c.*9G>A, XM_017015197.1:c.*9G>T, NM_001289119.2:c.*9G>A, NM_001289119.2:c.*9G>T, NM_001289119.1:c.*9G>A, NM_001289119.1:c.*9G>T, XM_024447691.2:c.*9G>A, XM_024447691.2:c.*9G>T, XM_024447691.1:c.*9G>A, XM_024447691.1:c.*9G>T, XM_047423958.1:c.*9G>A, XM_047423958.1:c.*9G>T, XM_047423960.1:c.*9G>A, XM_047423960.1:c.*9G>T, XM_047423959.1:c.*9G>A, XM_047423959.1:c.*9G>T, XM_047423957.1:c.*9G>A, XM_047423957.1:c.*9G>T, NR_110317.1:n.1183G>A, NR_110317.1:n.1183G>T, XM_047423962.1:c.*9G>A, XM_047423962.1:c.*9G>T

Select item 146937908718.

rs1469379087 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:37358041 (GRCh38)
9:37358038 (GRCh37)
Canonical SPDI:: NC_000009.12:37358040:A:G
Gene:: ZCCHC7 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000009.12:g.37358041A>G, NC_000009.11:g.37358038A>G, XM_005251608.5:c.*773A>G, XM_005251608.4:c.*773A>G, XM_005251608.3:c.*773A>G, XM_005251608.2:c.*773A>G, XM_005251608.1:c.*773A>G, XM_005251612.4:c.*773A>G, XM_005251612.3:c.*773A>G, XM_005251612.2:c.*773A>G, XM_005251612.1:c.*773A>G, XM_011518051.3:c.*773A>G, XM_011518051.2:c.*773A>G, XM_011518051.1:c.*773A>G, XM_017015199.3:c.*773A>G, XM_017015199.2:c.*773A>G, XM_017015199.1:c.*773A>G, XM_011518050.3:c.*773A>G, XM_011518050.2:c.*773A>G, XM_011518050.1:c.*773A>G, NM_032226.3:c.*773A>G, NM_032226.2:c.*773A>G, XM_017015198.2:c.*773A>G, XM_017015198.1:c.*773A>G, NM_001289121.2:c.*773A>G, NM_001289121.1:c.*773A>G, XM_017015200.2:c.*773A>G, XM_017015200.1:c.*773A>G, NM_001289120.2:c.*773A>G, NM_001289120.1:c.*773A>G, XM_017015197.2:c.*773A>G, XM_017015197.1:c.*773A>G, NM_001289119.2:c.*773A>G, NM_001289119.1:c.*773A>G, XM_024447691.2:c.*773A>G, XM_024447691.1:c.*773A>G, XM_047423958.1:c.*773A>G, XM_047423960.1:c.*773A>G, XM_047423959.1:c.*773A>G, XM_047423957.1:c.*773A>G, NR_110317.1:n.1947A>G, XM_047423962.1:c.*773A>G

Select item 146845833519.

rs1468458335 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:37305679 (GRCh38)
9:37305676 (GRCh37)
Canonical SPDI:: NC_000009.12:37305678:T:C
Gene:: ZCCHC7 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.37305679T>C, NC_000009.11:g.37305676T>C, XM_005251608.5:c.916T>C, XM_005251608.4:c.916T>C, XM_005251608.3:c.916T>C, XM_005251608.2:c.916T>C, XM_005251608.1:c.916T>C, XM_005251612.4:c.916T>C, XM_005251612.3:c.916T>C, XM_005251612.2:c.916T>C, XM_005251612.1:c.916T>C, XM_011518051.3:c.334T>C, XM_011518051.2:c.334T>C, XM_011518051.1:c.334T>C, XM_017015199.3:c.322T>C, XM_017015199.2:c.322T>C, XM_017015199.1:c.322T>C, XM_011518050.3:c.916T>C, XM_011518050.2:c.916T>C, XM_011518050.1:c.916T>C, NM_032226.3:c.916T>C, NM_032226.2:c.916T>C, XM_017015198.2:c.916T>C, XM_017015198.1:c.916T>C, NM_001289121.2:c.916T>C, NM_001289121.1:c.916T>C, XM_017015200.2:c.322T>C, XM_017015200.1:c.322T>C, NM_001289120.2:c.916T>C, NM_001289120.1:c.916T>C, XM_017015197.2:c.916T>C, XM_017015197.1:c.916T>C, NM_001289119.2:c.916T>C, NM_001289119.1:c.916T>C, XM_024447691.2:c.322T>C, XM_024447691.1:c.322T>C, XM_047423958.1:c.916T>C, XM_047423960.1:c.322T>C, XM_047423959.1:c.322T>C, XM_047423957.1:c.916T>C, NR_110317.1:n.458T>C, XM_047423962.1:c.46T>C, XP_005251665.1:p.Cys306Arg, XP_005251669.1:p.Cys306Arg, XP_011516353.1:p.Cys112Arg, XP_016870688.1:p.Cys108Arg, XP_011516352.1:p.Cys306Arg, NP_115602.2:p.Cys306Arg, XP_016870687.1:p.Cys306Arg, NP_001276050.1:p.Cys306Arg, XP_016870689.1:p.Cys108Arg, NP_001276049.1:p.Cys306Arg, XP_016870686.1:p.Cys306Arg, NP_001276048.1:p.Cys306Arg, XP_024303459.1:p.Cys108Arg, XP_047279914.1:p.Cys306Arg, XP_047279916.1:p.Cys108Arg, XP_047279915.1:p.Cys108Arg, XP_047279913.1:p.Cys306Arg, XP_047279918.1:p.Cys16Arg

Select item 146738184720.

rs1467381847 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 9:37305601 (GRCh38)
9:37305599 (GRCh37)
Canonical SPDI:: NC_000009.12:37305601:CCCCCC:CCCCCCC
Gene:: ZCCHC7 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant,frameshift_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.37305607dup, NC_000009.11:g.37305604dup, XM_005251608.5:c.844dup, XM_005251608.4:c.844dup, XM_005251608.3:c.844dup, XM_005251608.2:c.844dup, XM_005251608.1:c.844dup, XM_005251612.4:c.844dup, XM_005251612.3:c.844dup, XM_005251612.2:c.844dup, XM_005251612.1:c.844dup, XM_011518051.3:c.262dup, XM_011518051.2:c.262dup, XM_011518051.1:c.262dup, XM_017015199.3:c.250dup, XM_017015199.2:c.250dup, XM_017015199.1:c.250dup, XM_011518050.3:c.844dup, XM_011518050.2:c.844dup, XM_011518050.1:c.844dup, NM_032226.3:c.844dup, NM_032226.2:c.844dup, XM_017015198.2:c.844dup, XM_017015198.1:c.844dup, NM_001289121.2:c.844dup, NM_001289121.1:c.844dup, XM_017015200.2:c.250dup, XM_017015200.1:c.250dup, NM_001289120.2:c.844dup, NM_001289120.1:c.844dup, XM_017015197.2:c.844dup, XM_017015197.1:c.844dup, NM_001289119.2:c.844dup, NM_001289119.1:c.844dup, XM_024447691.2:c.250dup, XM_024447691.1:c.250dup, XM_047423958.1:c.844dup, XM_047423960.1:c.250dup, XM_047423959.1:c.250dup, XM_047423957.1:c.844dup, NR_110317.1:n.386dup, XM_047423962.1:c.-27dup, XP_005251665.1:p.Leu282fs, XP_005251669.1:p.Leu282fs, XP_011516353.1:p.Leu88fs, XP_016870688.1:p.Leu84fs, XP_011516352.1:p.Leu282fs, NP_115602.2:p.Leu282fs, XP_016870687.1:p.Leu282fs, NP_001276050.1:p.Leu282fs, XP_016870689.1:p.Leu84fs, NP_001276049.1:p.Leu282fs, XP_016870686.1:p.Leu282fs, NP_001276048.1:p.Leu282fs, XP_024303459.1:p.Leu84fs, XP_047279914.1:p.Leu282fs, XP_047279916.1:p.Leu84fs, XP_047279915.1:p.Leu84fs, XP_047279913.1:p.Leu282fs

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