SNP Links for Nucleotide (Select 1004170595) - SNP

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Links from Nucleotide

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Select item 14905918571.

rs1490591857 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:5111945 (GRCh38)
17:5015240 (GRCh37)
Canonical SPDI:: NC_000017.11:5111944:G:C
Gene:: ZNF232 (Varview), ZNF232-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000017.11:g.5111945G>C, NC_000017.10:g.5015240G>C, NM_014519.5:c.-123C>G, NM_014519.4:c.-123C>G, NM_014519.3:c.-123C>G, NM_001320953.2:c.-348C>G, NM_001320953.1:c.-348C>G, NM_001320954.2:c.-348C>G, NM_001320954.1:c.-348C>G, NM_014519.2:c.-123C>G, XM_047436669.1:c.-123C>G, XM_047436668.1:c.-123C>G, XM_047436670.1:c.-123C>G, XM_047436674.1:c.-167C>G, NM_001320952.1:c.-123C>G, NM_001320955.1:c.-123C>G, XM_047436672.1:c.-167C>G, XM_047436673.1:c.-167C>G, NR_135657.1:n.11G>C, NR_135658.1:n.11G>C

Select item 14894275782.

rs1489427578 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:5105907 (GRCh38)
17:5009202 (GRCh37)
Canonical SPDI:: NC_000017.11:5105906:T:C
Gene:: ZNF232 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0.000047/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.5105907T>C, NC_000017.10:g.5009202T>C, NM_014519.6:c.1252A>G, NM_014519.5:c.1252A>G, NM_014519.4:c.1252A>G, NM_014519.3:c.1252A>G, NM_014519.2:c.1252A>G, XM_011524006.4:c.1108A>G, XM_011524006.3:c.1108A>G, XM_011524006.2:c.1108A>G, XM_011524006.1:c.1108A>G, NM_001320953.2:c.1171A>G, NM_001320953.1:c.1171A>G, NM_001320954.2:c.1171A>G, NM_001320954.1:c.1171A>G, XM_047436669.1:c.1252A>G, XM_047436668.1:c.1252A>G, XM_047436670.1:c.1252A>G, XM_047436674.1:c.1024A>G, NM_001320952.1:c.1225A>G, NM_001320955.1:c.1168A>G, XM_047436672.1:c.1108A>G, XM_047436673.1:c.1081A>G, NM_001395551.1:c.1144A>G, XM_047436671.1:c.1171A>G, NM_001395552.1:c.1024A>G, NM_001395550.1:c.997A>G, NP_055334.2:p.Lys418Glu, XP_011522308.1:p.Lys370Glu, NP_001307882.1:p.Lys391Glu, NP_001307883.1:p.Lys391Glu, XP_047292625.1:p.Lys418Glu, XP_047292624.1:p.Lys418Glu, XP_047292626.1:p.Lys418Glu, XP_047292630.1:p.Lys342Glu, NP_001307881.1:p.Lys409Glu, NP_001307884.1:p.Lys390Glu, XP_047292628.1:p.Lys370Glu, XP_047292629.1:p.Lys361Glu, NP_001382480.1:p.Lys382Glu, XP_047292627.1:p.Lys391Glu, NP_001382481.1:p.Lys342Glu, NP_001382479.1:p.Lys333Glu

Select item 14886346033.

rs1488634603 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:5106031 (GRCh38)
17:5009326 (GRCh37)
Canonical SPDI:: NC_000017.11:5106030:C:A
Gene:: ZNF232 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.5106031C>A, NC_000017.10:g.5009326C>A, NM_014519.6:c.1128G>T, NM_014519.5:c.1128G>T, NM_014519.4:c.1128G>T, NM_014519.3:c.1128G>T, NM_014519.2:c.1128G>T, XM_011524006.4:c.984G>T, XM_011524006.3:c.984G>T, XM_011524006.2:c.984G>T, XM_011524006.1:c.984G>T, NM_001320953.2:c.1047G>T, NM_001320953.1:c.1047G>T, NM_001320954.2:c.1047G>T, NM_001320954.1:c.1047G>T, XM_047436669.1:c.1128G>T, XM_047436668.1:c.1128G>T, XM_047436670.1:c.1128G>T, XM_047436674.1:c.900G>T, NM_001320952.1:c.1101G>T, NM_001320955.1:c.1044G>T, XM_047436672.1:c.984G>T, XM_047436673.1:c.957G>T, NM_001395551.1:c.1020G>T, XM_047436671.1:c.1047G>T, NM_001395552.1:c.900G>T, NM_001395550.1:c.873G>T, NP_055334.2:p.Gln376His, XP_011522308.1:p.Gln328His, NP_001307882.1:p.Gln349His, NP_001307883.1:p.Gln349His, XP_047292625.1:p.Gln376His, XP_047292624.1:p.Gln376His, XP_047292626.1:p.Gln376His, XP_047292630.1:p.Gln300His, NP_001307881.1:p.Gln367His, NP_001307884.1:p.Gln348His, XP_047292628.1:p.Gln328His, XP_047292629.1:p.Gln319His, NP_001382480.1:p.Gln340His, XP_047292627.1:p.Gln349His, NP_001382481.1:p.Gln300His, NP_001382479.1:p.Gln291His

Select item 14852675444.

rs1485267544 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:5105877 (GRCh38)
17:5009172 (GRCh37)
Canonical SPDI:: NC_000017.11:5105876:A:G
Gene:: ZNF232 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000017.11:g.5105877A>G, NC_000017.10:g.5009172A>G, NM_014519.6:c.1282T>C, NM_014519.5:c.1282T>C, NM_014519.4:c.1282T>C, NM_014519.3:c.1282T>C, NM_014519.2:c.1282T>C, XM_011524006.4:c.1138T>C, XM_011524006.3:c.1138T>C, XM_011524006.2:c.1138T>C, XM_011524006.1:c.1138T>C, NM_001320953.2:c.1201T>C, NM_001320953.1:c.1201T>C, NM_001320954.2:c.1201T>C, NM_001320954.1:c.1201T>C, XM_047436669.1:c.1282T>C, XM_047436668.1:c.1282T>C, XM_047436670.1:c.1282T>C, XM_047436674.1:c.1054T>C, NM_001320952.1:c.1255T>C, NM_001320955.1:c.1198T>C, XM_047436672.1:c.1138T>C, XM_047436673.1:c.1111T>C, NM_001395551.1:c.1174T>C, XM_047436671.1:c.1201T>C, NM_001395552.1:c.1054T>C, NM_001395550.1:c.1027T>C, NP_055334.2:p.Ser428Pro, XP_011522308.1:p.Ser380Pro, NP_001307882.1:p.Ser401Pro, NP_001307883.1:p.Ser401Pro, XP_047292625.1:p.Ser428Pro, XP_047292624.1:p.Ser428Pro, XP_047292626.1:p.Ser428Pro, XP_047292630.1:p.Ser352Pro, NP_001307881.1:p.Ser419Pro, NP_001307884.1:p.Ser400Pro, XP_047292628.1:p.Ser380Pro, XP_047292629.1:p.Ser371Pro, NP_001382480.1:p.Ser392Pro, XP_047292627.1:p.Ser401Pro, NP_001382481.1:p.Ser352Pro, NP_001382479.1:p.Ser343Pro

Select item 14848815055.

rs1484881505 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:5105995 (GRCh38)
17:5009290 (GRCh37)
Canonical SPDI:: NC_000017.11:5105994:C:T
Gene:: ZNF232 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_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_000017.11:g.5105995C>T, NC_000017.10:g.5009290C>T, NM_014519.6:c.1164G>A, NM_014519.5:c.1164G>A, NM_014519.4:c.1164G>A, NM_014519.3:c.1164G>A, NM_014519.2:c.1164G>A, XM_011524006.4:c.1020G>A, XM_011524006.3:c.1020G>A, XM_011524006.2:c.1020G>A, XM_011524006.1:c.1020G>A, NM_001320953.2:c.1083G>A, NM_001320953.1:c.1083G>A, NM_001320954.2:c.1083G>A, NM_001320954.1:c.1083G>A, XM_047436669.1:c.1164G>A, XM_047436668.1:c.1164G>A, XM_047436670.1:c.1164G>A, XM_047436674.1:c.936G>A, NM_001320952.1:c.1137G>A, NM_001320955.1:c.1080G>A, XM_047436672.1:c.1020G>A, XM_047436673.1:c.993G>A, NM_001395551.1:c.1056G>A, XM_047436671.1:c.1083G>A, NM_001395552.1:c.936G>A, NM_001395550.1:c.909G>A

Select item 14834844946.

rs1483484494 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGTCT>- [Show Flanks]
Chromosome:: 17:5109697 (GRCh38)
17:5012992 (GRCh37)
Canonical SPDI:: NC_000017.11:5109694:CTGGTCT:CT
Gene:: ZNF232 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: CT=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.5109697_5109701del, NC_000017.10:g.5012992_5012996del, NM_014519.6:c.193_197del, NM_014519.5:c.193_197del, NM_014519.4:c.193_197del, NM_014519.3:c.193_197del, NM_014519.2:c.193_197del, XM_011524006.4:c.49_53del, XM_011524006.3:c.49_53del, XM_011524006.2:c.49_53del, XM_011524006.1:c.49_53del, NM_001320953.2:c.112_116del, NM_001320953.1:c.112_116del, NM_001320954.2:c.112_116del, NM_001320954.1:c.112_116del, XM_047436669.1:c.193_197del, XM_047436668.1:c.193_197del, XM_047436670.1:c.193_197del, XM_047436674.1:c.49_53del, NM_001320952.1:c.193_197del, NM_001320955.1:c.193_197del, XM_047436672.1:c.49_53del, XM_047436673.1:c.49_53del, NM_001395551.1:c.112_116del, XM_047436671.1:c.112_116del, NM_001395552.1:c.49_53del, NM_001395550.1:c.49_53del, NP_055334.2:p.Thr65fs, XP_011522308.1:p.Thr17fs, NP_001307882.1:p.Thr38fs, NP_001307883.1:p.Thr38fs, XP_047292625.1:p.Thr65fs, XP_047292624.1:p.Thr65fs, XP_047292626.1:p.Thr65fs, XP_047292630.1:p.Thr17fs, NP_001307881.1:p.Thr65fs, NP_001307884.1:p.Thr65fs, XP_047292628.1:p.Thr17fs, XP_047292629.1:p.Thr17fs, NP_001382480.1:p.Thr38fs, XP_047292627.1:p.Thr38fs, NP_001382481.1:p.Thr17fs, NP_001382479.1:p.Thr17fs

Select item 14816786077.

rs1481678607 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:5112073 (GRCh38)
17:5015368 (GRCh37)
Canonical SPDI:: NC_000017.11:5112072:G:A
Gene:: ZNF232 (Varview), ZNF232-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.5112073G>A, NC_000017.10:g.5015368G>A, NM_014519.5:c.-251C>T, NM_014519.4:c.-251C>T, NM_014519.3:c.-251C>T, NM_001320953.2:c.-476C>T, NM_001320953.1:c.-476C>T, NM_001320954.2:c.-476C>T, NM_001320954.1:c.-476C>T, NM_014519.2:c.-251C>T, XM_047436669.1:c.-251C>T, XM_047436668.1:c.-251C>T, XM_047436670.1:c.-251C>T, XM_047436674.1:c.-295C>T, NM_001320952.1:c.-251C>T, NM_001320955.1:c.-251C>T, XM_047436672.1:c.-295C>T, XM_047436673.1:c.-295C>T, NR_135657.1:n.139G>A, NR_135658.1:n.139G>A

Select item 14807306438.

rs1480730643 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:5111863 (GRCh38)
17:5015158 (GRCh37)
Canonical SPDI:: NC_000017.11:5111862:C:T
Gene:: ZNF232 (Varview), ZNF232-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant
HGVS:: NC_000017.11:g.5111863C>T, NC_000017.10:g.5015158C>T, NM_014519.6:c.-41G>A, NM_014519.5:c.-41G>A, NM_014519.4:c.-41G>A, NM_014519.3:c.-41G>A, NM_014519.2:c.-41G>A, NM_001320953.2:c.-266G>A, NM_001320953.1:c.-266G>A, NM_001320954.2:c.-266G>A, NM_001320954.1:c.-266G>A, XM_047436669.1:c.-41G>A, XM_047436668.1:c.-41G>A, XM_047436670.1:c.-41G>A, XM_047436674.1:c.-85G>A, NM_001320952.1:c.-41G>A, NM_001320955.1:c.-41G>A, XM_047436672.1:c.-85G>A, XM_047436673.1:c.-85G>A, NM_001395551.1:c.-266G>A, NM_001395552.1:c.-229G>A, NM_001395550.1:c.-229G>A

Select item 14804659729.

rs1480465972 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:5109487 (GRCh38)
17:5012782 (GRCh37)
Canonical SPDI:: NC_000017.11:5109486:G:A
Gene:: ZNF232 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.5109487G>A, NC_000017.10:g.5012782G>A, NM_014519.6:c.405C>T, NM_014519.5:c.405C>T, NM_014519.4:c.405C>T, NM_014519.3:c.405C>T, NM_014519.2:c.405C>T, XM_011524006.4:c.261C>T, XM_011524006.3:c.261C>T, XM_011524006.2:c.261C>T, XM_011524006.1:c.261C>T, NM_001320953.2:c.324C>T, NM_001320953.1:c.324C>T, NM_001320954.2:c.324C>T, NM_001320954.1:c.324C>T, XM_047436669.1:c.405C>T, XM_047436668.1:c.405C>T, XM_047436670.1:c.405C>T, XM_047436674.1:c.261C>T, NM_001320952.1:c.405C>T, NM_001320955.1:c.405C>T, XM_047436672.1:c.261C>T, XM_047436673.1:c.261C>T, NM_001395551.1:c.324C>T, XM_047436671.1:c.324C>T, NM_001395552.1:c.261C>T, NM_001395550.1:c.261C>T

Select item 148010825010.

rs1480108250 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:5105799 (GRCh38)
17:5009094 (GRCh37)
Canonical SPDI:: NC_000017.11:5105798:G:C
Gene:: ZNF232 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000005/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.5105799G>C, NC_000017.10:g.5009094G>C, NM_014519.6:c.*25C>G, NM_014519.5:c.*25C>G, NM_014519.4:c.*25C>G, NM_014519.3:c.*25C>G, NM_014519.2:c.*25C>G, XM_011524006.4:c.*25C>G, XM_011524006.3:c.*25C>G, XM_011524006.2:c.*25C>G, XM_011524006.1:c.*25C>G, NM_001320953.2:c.*25C>G, NM_001320953.1:c.*25C>G, NM_001320954.2:c.*25C>G, NM_001320954.1:c.*25C>G, XM_047436669.1:c.*25C>G, XM_047436668.1:c.*25C>G, XM_047436670.1:c.*25C>G, XM_047436674.1:c.*25C>G, NM_001320952.1:c.*25C>G, NM_001320955.1:c.*25C>G, XM_047436672.1:c.*25C>G, XM_047436673.1:c.*25C>G, NM_001395551.1:c.*25C>G, XM_047436671.1:c.*25C>G, NM_001395552.1:c.*25C>G, NM_001395550.1:c.*25C>G

Select item 147890304311.

rs1478903043 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:5106104 (GRCh38)
17:5009399 (GRCh37)
Canonical SPDI:: NC_000017.11:5106103:A:G
Gene:: ZNF232 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000017.11:g.5106104A>G, NC_000017.10:g.5009399A>G, NM_014519.6:c.1055T>C, NM_014519.5:c.1055T>C, NM_014519.4:c.1055T>C, NM_014519.3:c.1055T>C, NM_014519.2:c.1055T>C, XM_011524006.4:c.911T>C, XM_011524006.3:c.911T>C, XM_011524006.2:c.911T>C, XM_011524006.1:c.911T>C, NM_001320953.2:c.974T>C, NM_001320953.1:c.974T>C, NM_001320954.2:c.974T>C, NM_001320954.1:c.974T>C, XM_047436669.1:c.1055T>C, XM_047436668.1:c.1055T>C, XM_047436670.1:c.1055T>C, XM_047436674.1:c.827T>C, NM_001320952.1:c.1028T>C, NM_001320955.1:c.971T>C, XM_047436672.1:c.911T>C, XM_047436673.1:c.884T>C, NM_001395551.1:c.947T>C, XM_047436671.1:c.974T>C, NM_001395552.1:c.827T>C, NM_001395550.1:c.800T>C, NP_055334.2:p.Ile352Thr, XP_011522308.1:p.Ile304Thr, NP_001307882.1:p.Ile325Thr, NP_001307883.1:p.Ile325Thr, XP_047292625.1:p.Ile352Thr, XP_047292624.1:p.Ile352Thr, XP_047292626.1:p.Ile352Thr, XP_047292630.1:p.Ile276Thr, NP_001307881.1:p.Ile343Thr, NP_001307884.1:p.Ile324Thr, XP_047292628.1:p.Ile304Thr, XP_047292629.1:p.Ile295Thr, NP_001382480.1:p.Ile316Thr, XP_047292627.1:p.Ile325Thr, NP_001382481.1:p.Ile276Thr, NP_001382479.1:p.Ile267Thr

Select item 147851936612.

rs1478519366 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:5109454 (GRCh38)
17:5012749 (GRCh37)
Canonical SPDI:: NC_000017.11:5109453:A:G
Gene:: ZNF232 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
HGVS:: NC_000017.11:g.5109454A>G, NC_000017.10:g.5012749A>G, NM_014519.6:c.438T>C, NM_014519.5:c.438T>C, NM_014519.4:c.438T>C, NM_014519.3:c.438T>C, NM_014519.2:c.438T>C, XM_011524006.4:c.294T>C, XM_011524006.3:c.294T>C, XM_011524006.2:c.294T>C, XM_011524006.1:c.294T>C, NM_001320953.2:c.357T>C, NM_001320953.1:c.357T>C, NM_001320954.2:c.357T>C, NM_001320954.1:c.357T>C, XM_047436669.1:c.438T>C, XM_047436668.1:c.438T>C, XM_047436670.1:c.438T>C, NM_001320952.1:c.438T>C, XM_047436672.1:c.294T>C, XM_047436673.1:c.294T>C, NM_001395551.1:c.357T>C, XM_047436671.1:c.357T>C

Select item 147850839813.

rs1478508398 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:5106394 (GRCh38)
17:5009689 (GRCh37)
Canonical SPDI:: NC_000017.11:5106393:T:C
Gene:: ZNF232 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000017.11:g.5106394T>C, NC_000017.10:g.5009689T>C, NM_014519.6:c.765A>G, NM_014519.5:c.765A>G, NM_014519.4:c.765A>G, NM_014519.3:c.765A>G, NM_014519.2:c.765A>G, XM_011524006.4:c.621A>G, XM_011524006.3:c.621A>G, XM_011524006.2:c.621A>G, XM_011524006.1:c.621A>G, NM_001320953.2:c.684A>G, NM_001320953.1:c.684A>G, NM_001320954.2:c.684A>G, NM_001320954.1:c.684A>G, XM_047436669.1:c.765A>G, XM_047436668.1:c.765A>G, XM_047436670.1:c.765A>G, XM_047436674.1:c.537A>G, NM_001320952.1:c.738A>G, NM_001320955.1:c.681A>G, XM_047436672.1:c.621A>G, XM_047436673.1:c.594A>G, NM_001395551.1:c.657A>G, XM_047436671.1:c.684A>G, NM_001395552.1:c.537A>G, NM_001395550.1:c.510A>G

Select item 147750620714.

rs1477506207 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:5109413 (GRCh38)
17:5012708 (GRCh37)
Canonical SPDI:: NC_000017.11:5109412:C:A
Gene:: ZNF232 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.5109413C>A, NC_000017.10:g.5012708C>A, NM_014519.6:c.479G>T, NM_014519.5:c.479G>T, NM_014519.4:c.479G>T, NM_014519.3:c.479G>T, NM_014519.2:c.479G>T, XM_011524006.4:c.335G>T, XM_011524006.3:c.335G>T, XM_011524006.2:c.335G>T, XM_011524006.1:c.335G>T, NM_001320953.2:c.398G>T, NM_001320953.1:c.398G>T, NM_001320954.2:c.398G>T, NM_001320954.1:c.398G>T, XM_047436669.1:c.479G>T, XM_047436668.1:c.479G>T, XM_047436670.1:c.479G>T, NM_001320952.1:c.479G>T, XM_047436672.1:c.335G>T, XM_047436673.1:c.335G>T, NM_001395551.1:c.398G>T, XM_047436671.1:c.398G>T, NP_055334.2:p.Gly160Val, XP_011522308.1:p.Gly112Val, NP_001307882.1:p.Gly133Val, NP_001307883.1:p.Gly133Val, XP_047292625.1:p.Gly160Val, XP_047292624.1:p.Gly160Val, XP_047292626.1:p.Gly160Val, NP_001307881.1:p.Gly160Val, XP_047292628.1:p.Gly112Val, XP_047292629.1:p.Gly112Val, NP_001382480.1:p.Gly133Val, XP_047292627.1:p.Gly133Val

Select item 147745531915.

rs1477455319 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:5106145 (GRCh38)
17:5009440 (GRCh37)
Canonical SPDI:: NC_000017.11:5106144:T:C
Gene:: ZNF232 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.5106145T>C, NC_000017.10:g.5009440T>C, NM_014519.6:c.1014A>G, NM_014519.5:c.1014A>G, NM_014519.4:c.1014A>G, NM_014519.3:c.1014A>G, NM_014519.2:c.1014A>G, XM_011524006.4:c.870A>G, XM_011524006.3:c.870A>G, XM_011524006.2:c.870A>G, XM_011524006.1:c.870A>G, NM_001320953.2:c.933A>G, NM_001320953.1:c.933A>G, NM_001320954.2:c.933A>G, NM_001320954.1:c.933A>G, XM_047436669.1:c.1014A>G, XM_047436668.1:c.1014A>G, XM_047436670.1:c.1014A>G, XM_047436674.1:c.786A>G, NM_001320952.1:c.987A>G, NM_001320955.1:c.930A>G, XM_047436672.1:c.870A>G, XM_047436673.1:c.843A>G, NM_001395551.1:c.906A>G, XM_047436671.1:c.933A>G, NM_001395552.1:c.786A>G, NM_001395550.1:c.759A>G

Select item 147698881116.

rs1476988811 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GCAGGTGGAGAGTGAGCCCTTGT [Show Flanks]
Chromosome:: 17:5112097 (GRCh38)
17:5015393 (GRCh37)
Canonical SPDI:: NC_000017.11:5112097:GCAGGTGGAGAGTGAGCCCTTGT:GCAGGTGGAGAGTGAGCCCTTGTGCAGGTGGAGAGTGAGCCCTTGT
Gene:: ZNF232 (Varview), ZNF232-AS1 (Varview)
Functional Consequence:: splice_donor_variant,non_coding_transcript_variant,intron_variant,5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GCAGGTGGAGAGTGAGCCCTTGTGCAGGTGGAGAGTGAGCCCTTGT=0./0 (ALFA)
GCAGGTGGAGAGTGAGCCCTTGT=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.5112098_5112120dup, NC_000017.10:g.5015393_5015415dup, NM_014519.5:c.-298_-276dup, NM_014519.4:c.-298_-276dup, NM_014519.3:c.-298_-276dup, NM_001320953.2:c.-523_-501dup, NM_001320953.1:c.-523_-501dup, NM_001320954.2:c.-523_-501dup, NM_001320954.1:c.-523_-501dup, NM_014519.2:c.-298_-276dup, XM_047436669.1:c.-298_-276dup, XM_047436668.1:c.-298_-276dup, XM_047436670.1:c.-298_-276dup, XM_047436674.1:c.-342_-320dup, NM_001320952.1:c.-298_-276dup, NM_001320955.1:c.-298_-276dup, XM_047436672.1:c.-342_-320dup, XM_047436673.1:c.-342_-320dup

Select item 147052107517.

rs1470521075 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:5111877 (GRCh38)
17:5015172 (GRCh37)
Canonical SPDI:: NC_000017.11:5111876:G:A
Gene:: ZNF232 (Varview), ZNF232-AS1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.00003/8 (TOPMED)
HGVS:: NC_000017.11:g.5111877G>A, NC_000017.10:g.5015172G>A, NM_014519.6:c.-55C>T, NM_014519.5:c.-55C>T, NM_014519.4:c.-55C>T, NM_014519.3:c.-55C>T, NM_014519.2:c.-55C>T, NM_001320953.2:c.-280C>T, NM_001320953.1:c.-280C>T, NM_001320954.2:c.-280C>T, NM_001320954.1:c.-280C>T, XM_047436669.1:c.-55C>T, XM_047436668.1:c.-55C>T, XM_047436670.1:c.-55C>T, XM_047436674.1:c.-99C>T, NM_001320952.1:c.-55C>T, NM_001320955.1:c.-55C>T, XM_047436672.1:c.-99C>T, XM_047436673.1:c.-99C>T, NM_001395551.1:c.-280C>T, NM_001395552.1:c.-243C>T, NM_001395550.1:c.-243C>T

Select item 146889444118.

rs1468894441 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 17:5111823 (GRCh38)
17:5015118 (GRCh37)
Canonical SPDI:: NC_000017.11:5111822:C:A,NC_000017.11:5111822:C:T
Gene:: ZNF232 (Varview), ZNF232-AS1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.5111823C>A, NC_000017.11:g.5111823C>T, NC_000017.10:g.5015118C>A, NC_000017.10:g.5015118C>T, NM_014519.6:c.-1G>T, NM_014519.6:c.-1G>A, NM_014519.5:c.-1G>T, NM_014519.5:c.-1G>A, NM_014519.4:c.-1G>T, NM_014519.4:c.-1G>A, NM_014519.3:c.-1G>T, NM_014519.3:c.-1G>A, NM_014519.2:c.-1G>T, NM_014519.2:c.-1G>A, NM_001320953.2:c.-226G>T, NM_001320953.2:c.-226G>A, NM_001320953.1:c.-226G>T, NM_001320953.1:c.-226G>A, NM_001320954.2:c.-226G>T, NM_001320954.2:c.-226G>A, NM_001320954.1:c.-226G>T, NM_001320954.1:c.-226G>A, XM_047436669.1:c.-1G>T, XM_047436669.1:c.-1G>A, XM_047436668.1:c.-1G>T, XM_047436668.1:c.-1G>A, XM_047436670.1:c.-1G>T, XM_047436670.1:c.-1G>A, XM_047436674.1:c.-45G>T, XM_047436674.1:c.-45G>A, NM_001320952.1:c.-1G>T, NM_001320952.1:c.-1G>A, NM_001320955.1:c.-1G>T, NM_001320955.1:c.-1G>A, XM_047436672.1:c.-45G>T, XM_047436672.1:c.-45G>A, XM_047436673.1:c.-45G>T, XM_047436673.1:c.-45G>A, NM_001395551.1:c.-226G>T, NM_001395551.1:c.-226G>A, NM_001395552.1:c.-189G>T, NM_001395552.1:c.-189G>A, NM_001395550.1:c.-189G>T, NM_001395550.1:c.-189G>A

Select item 146705888619.

rs1467058886 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:5106290 (GRCh38)
17:5009585 (GRCh37)
Canonical SPDI:: NC_000017.11:5106289:A:G
Gene:: ZNF232 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00004/10 (GnomAD_exomes)
G=0.000057/8 (GnomAD)
G=0.000068/18 (TOPMED)
G=0.000177/3 (TOMMO)
HGVS:: NC_000017.11:g.5106290A>G, NC_000017.10:g.5009585A>G, NM_014519.6:c.869T>C, NM_014519.5:c.869T>C, NM_014519.4:c.869T>C, NM_014519.3:c.869T>C, NM_014519.2:c.869T>C, XM_011524006.4:c.725T>C, XM_011524006.3:c.725T>C, XM_011524006.2:c.725T>C, XM_011524006.1:c.725T>C, NM_001320953.2:c.788T>C, NM_001320953.1:c.788T>C, NM_001320954.2:c.788T>C, NM_001320954.1:c.788T>C, XM_047436669.1:c.869T>C, XM_047436668.1:c.869T>C, XM_047436670.1:c.869T>C, XM_047436674.1:c.641T>C, NM_001320952.1:c.842T>C, NM_001320955.1:c.785T>C, XM_047436672.1:c.725T>C, XM_047436673.1:c.698T>C, NM_001395551.1:c.761T>C, XM_047436671.1:c.788T>C, NM_001395552.1:c.641T>C, NM_001395550.1:c.614T>C, NP_055334.2:p.Val290Ala, XP_011522308.1:p.Val242Ala, NP_001307882.1:p.Val263Ala, NP_001307883.1:p.Val263Ala, XP_047292625.1:p.Val290Ala, XP_047292624.1:p.Val290Ala, XP_047292626.1:p.Val290Ala, XP_047292630.1:p.Val214Ala, NP_001307881.1:p.Val281Ala, NP_001307884.1:p.Val262Ala, XP_047292628.1:p.Val242Ala, XP_047292629.1:p.Val233Ala, NP_001382480.1:p.Val254Ala, XP_047292627.1:p.Val263Ala, NP_001382481.1:p.Val214Ala, NP_001382479.1:p.Val205Ala

Select item 146502625220.

rs1465026252 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:5105771 (GRCh38)
17:5009066 (GRCh37)
Canonical SPDI:: NC_000017.11:5105770:A:C
Gene:: ZNF232 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000017.11:g.5105771A>C, NC_000017.10:g.5009066A>C, NM_014519.6:c.*53T>G, NM_014519.5:c.*53T>G, NM_014519.4:c.*53T>G, NM_014519.3:c.*53T>G, NM_014519.2:c.*53T>G, XM_011524006.4:c.*53T>G, XM_011524006.3:c.*53T>G, XM_011524006.2:c.*53T>G, XM_011524006.1:c.*53T>G, NM_001320953.2:c.*53T>G, NM_001320953.1:c.*53T>G, NM_001320954.2:c.*53T>G, NM_001320954.1:c.*53T>G, XM_047436669.1:c.*53T>G, XM_047436668.1:c.*53T>G, XM_047436670.1:c.*53T>G, XM_047436674.1:c.*53T>G, NM_001320952.1:c.*53T>G, NM_001320955.1:c.*53T>G, XM_047436672.1:c.*53T>G, XM_047436673.1:c.*53T>G, NM_001395551.1:c.*53T>G, XM_047436671.1:c.*53T>G, NM_001395552.1:c.*53T>G, NM_001395550.1:c.*53T>G

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