SNP Links for Nucleotide (Select 544710467) - SNP - NCBI

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Links from Nucleotide

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Select item 14902653101.

rs1490265310 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 10:45616210 (GRCh38)
10:46111658 (GRCh37)
Canonical SPDI:: NC_000010.11:45616209:T:G
Gene:: ZFAND4 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.45616210T>G, NC_000010.10:g.46111658T>G, NM_174890.4:c.*226A>C, NM_174890.3:c.*226A>C, NM_174890.2:c.*226A>C, XM_011540366.3:c.*226A>C, XM_011540366.2:c.*226A>C, XM_011540366.1:c.*226A>C, XM_017016933.3:c.*226A>C, XM_017016933.2:c.*226A>C, XM_017016933.1:c.*226A>C, XM_017016939.3:c.*226A>C, XM_017016939.2:c.*226A>C, XM_017016939.1:c.*226A>C, XM_017016940.3:c.*226A>C, XM_017016940.2:c.*226A>C, XM_017016940.1:c.*226A>C, NM_001128324.2:c.*226A>C, NM_001128324.1:c.*226A>C, XM_017016931.2:c.*226A>C, XM_017016931.1:c.*226A>C, XM_011540368.2:c.*226A>C, XM_011540368.1:c.*226A>C, XM_047426008.1:c.*226A>C, XM_047426009.1:c.*226A>C, XM_047426010.1:c.*226A>C, XM_047426011.1:c.*226A>C, NM_001282905.1:c.*226A>C, XM_047426012.1:c.*226A>C, XM_047426014.1:c.*226A>C, NM_001282906.1:c.*226A>C, XM_047426017.1:c.*226A>C, XM_047426016.1:c.*226A>C

Select item 14898152322.

rs1489815232 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 10:45624598 (GRCh38)
10:46120046 (GRCh37)
Canonical SPDI:: NC_000010.11:45624597:C:A,NC_000010.11:45624597:C:T
Gene:: ZFAND4 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.45624598C>A, NC_000010.11:g.45624598C>T, NC_000010.10:g.46120046C>A, NC_000010.10:g.46120046C>T, NM_174890.4:c.1912G>T, NM_174890.4:c.1912G>A, NM_174890.3:c.1912G>T, NM_174890.3:c.1912G>A, NM_174890.2:c.1912G>T, NM_174890.2:c.1912G>A, XM_011540366.3:c.1936G>T, XM_011540366.3:c.1936G>A, XM_011540366.2:c.1936G>T, XM_011540366.2:c.1936G>A, XM_011540366.1:c.1936G>T, XM_011540366.1:c.1936G>A, XM_017016933.3:c.1930G>T, XM_017016933.3:c.1930G>A, XM_017016933.2:c.1930G>T, XM_017016933.2:c.1930G>A, XM_017016933.1:c.1930G>T, XM_017016933.1:c.1930G>A, XM_017016939.3:c.1768G>T, XM_017016939.3:c.1768G>A, XM_017016939.2:c.1768G>T, XM_017016939.2:c.1768G>A, XM_017016939.1:c.1768G>T, XM_017016939.1:c.1768G>A, XM_017016940.3:c.1708G>T, XM_017016940.3:c.1708G>A, XM_017016940.2:c.1708G>T, XM_017016940.2:c.1708G>A, XM_017016940.1:c.1708G>T, XM_017016940.1:c.1708G>A, NM_001128324.2:c.1912G>T, NM_001128324.2:c.1912G>A, NM_001128324.1:c.1912G>T, NM_001128324.1:c.1912G>A, XM_017016931.2:c.1954G>T, XM_017016931.2:c.1954G>A, XM_017016931.1:c.1954G>T, XM_017016931.1:c.1954G>A, XR_001747259.2:n.2808G>T, XR_001747259.2:n.2808G>A, XR_001747259.1:n.1944G>T, XR_001747259.1:n.1944G>A, XM_011540368.2:c.1396G>T, XM_011540368.2:c.1396G>A, XM_011540368.1:c.1396G>T, XM_011540368.1:c.1396G>A, XM_047426008.1:c.2098G>T, XM_047426008.1:c.2098G>A, XM_047426009.1:c.2080G>T, XM_047426009.1:c.2080G>A, XM_047426010.1:c.1930G>T, XM_047426010.1:c.1930G>A, XM_047426011.1:c.1930G>T, XM_047426011.1:c.1930G>A, NM_001282905.1:c.1690G>T, NM_001282905.1:c.1690G>A, XM_047426012.1:c.1930G>T, XM_047426012.1:c.1930G>A, XM_047426014.1:c.1768G>T, XM_047426014.1:c.1768G>A, NM_001282906.1:c.1690G>T, NM_001282906.1:c.1690G>A, XM_047426017.1:c.1930G>T, XM_047426017.1:c.1930G>A, XM_047426016.1:c.1633G>T, XM_047426016.1:c.1633G>A, NP_777550.2:p.Ala638Ser, NP_777550.2:p.Ala638Thr, XP_011538668.1:p.Ala646Ser, XP_011538668.1:p.Ala646Thr, XP_016872422.1:p.Ala644Ser, XP_016872422.1:p.Ala644Thr, XP_016872428.1:p.Ala590Ser, XP_016872428.1:p.Ala590Thr, XP_016872429.1:p.Ala570Ser, XP_016872429.1:p.Ala570Thr, NP_001121796.1:p.Ala638Ser, NP_001121796.1:p.Ala638Thr, XP_016872420.1:p.Ala652Ser, XP_016872420.1:p.Ala652Thr, XP_011538670.1:p.Ala466Ser, XP_011538670.1:p.Ala466Thr, XP_047281964.1:p.Ala700Ser, XP_047281964.1:p.Ala700Thr, XP_047281965.1:p.Ala694Ser, XP_047281965.1:p.Ala694Thr, XP_047281966.1:p.Ala644Ser, XP_047281966.1:p.Ala644Thr, XP_047281967.1:p.Ala644Ser, XP_047281967.1:p.Ala644Thr, NP_001269834.1:p.Ala564Ser, NP_001269834.1:p.Ala564Thr, XP_047281968.1:p.Ala644Ser, XP_047281968.1:p.Ala644Thr, XP_047281970.1:p.Ala590Ser, XP_047281970.1:p.Ala590Thr, NP_001269835.1:p.Ala564Ser, NP_001269835.1:p.Ala564Thr, XP_047281973.1:p.Ala644Ser, XP_047281973.1:p.Ala644Thr, XP_047281972.1:p.Ala545Ser, XP_047281972.1:p.Ala545Thr

Select item 14890619443.

rs1489061944 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 10:45672592 (GRCh38)
10:46168040 (GRCh37)
Canonical SPDI:: NC_000010.11:45672591:C:A,NC_000010.11:45672591:C:T
Gene:: ZFAND4 (Varview)
Functional Consequence:: 5_prime_UTR_variant,non_coding_transcript_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000010.11:g.45672592C>A, NC_000010.11:g.45672592C>T, NC_000010.10:g.46168040C>A, NC_000010.10:g.46168040C>T, NM_174890.4:c.-460G>T, NM_174890.4:c.-460G>A, NM_174890.3:c.-460G>T, NM_174890.3:c.-460G>A, NM_174890.2:c.-460G>T, NM_174890.2:c.-460G>A, XM_011540366.3:c.-530G>T, XM_011540366.3:c.-530G>A, XR_001747259.2:n.181G>T, XR_001747259.2:n.181G>A, XM_017016935.2:c.-530G>T, XM_017016935.2:c.-530G>A, XM_047426008.1:c.-530G>T, XM_047426008.1:c.-530G>A, XM_047426009.1:c.-530G>T, XM_047426009.1:c.-530G>A, XM_047426010.1:c.-527G>T, XM_047426010.1:c.-527G>A, XM_047426011.1:c.-505G>T, XM_047426011.1:c.-505G>A, NM_001282905.1:c.-784G>T, NM_001282905.1:c.-784G>A, XM_047426012.1:c.-312G>T, XM_047426012.1:c.-312G>A, XM_047426014.1:c.-438G>T, XM_047426014.1:c.-438G>A, XM_047426013.1:c.-530G>T, XM_047426013.1:c.-530G>A

Select item 14889914284.

rs1488991428 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 10:45616554 (GRCh38)
10:46112002 (GRCh37)
Canonical SPDI:: NC_000010.11:45616553:C:A
Gene:: ZFAND4 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.45616554C>A, NC_000010.10:g.46112002C>A, NM_174890.4:c.2066G>T, NM_174890.3:c.2066G>T, NM_174890.2:c.2066G>T, XM_011540366.3:c.2090G>T, XM_011540366.2:c.2090G>T, XM_011540366.1:c.2090G>T, XM_017016933.3:c.2084G>T, XM_017016933.2:c.2084G>T, XM_017016933.1:c.2084G>T, XM_017016939.3:c.1922G>T, XM_017016939.2:c.1922G>T, XM_017016939.1:c.1922G>T, XM_017016940.3:c.1862G>T, XM_017016940.2:c.1862G>T, XM_017016940.1:c.1862G>T, NM_001128324.2:c.2066G>T, NM_001128324.1:c.2066G>T, XM_017016931.2:c.2108G>T, XM_017016931.1:c.2108G>T, XM_011540368.2:c.1550G>T, XM_011540368.1:c.1550G>T, XM_047426008.1:c.2252G>T, XM_047426009.1:c.2234G>T, XM_047426010.1:c.2084G>T, XM_047426011.1:c.2084G>T, NM_001282905.1:c.1844G>T, XM_047426012.1:c.2084G>T, XM_047426014.1:c.1922G>T, NM_001282906.1:c.1844G>T, XM_047426017.1:c.2084G>T, XM_047426016.1:c.1787G>T, NP_777550.2:p.Cys689Phe, XP_011538668.1:p.Cys697Phe, XP_016872422.1:p.Cys695Phe, XP_016872428.1:p.Cys641Phe, XP_016872429.1:p.Cys621Phe, NP_001121796.1:p.Cys689Phe, XP_016872420.1:p.Cys703Phe, XP_011538670.1:p.Cys517Phe, XP_047281964.1:p.Cys751Phe, XP_047281965.1:p.Cys745Phe, XP_047281966.1:p.Cys695Phe, XP_047281967.1:p.Cys695Phe, NP_001269834.1:p.Cys615Phe, XP_047281968.1:p.Cys695Phe, XP_047281970.1:p.Cys641Phe, NP_001269835.1:p.Cys615Phe, XP_047281973.1:p.Cys695Phe, XP_047281972.1:p.Cys596Phe

Select item 14878970505.

rs1487897050 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGCGCCCGCGCC>- [Show Flanks]
Chromosome:: 10:45672551 (GRCh38)
10:46167999 (GRCh37)
Canonical SPDI:: NC_000010.11:45672545:GCGCCGAGCGCCCGCGCC:GCGCC
Gene:: ZFAND4 (Varview)
Functional Consequence:: 5_prime_UTR_variant,non_coding_transcript_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GCGCC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.45672551_45672563del, NC_000010.10:g.46167999_46168011del, NM_174890.4:c.-426_-414del, NM_174890.3:c.-426_-414del, NM_174890.2:c.-426_-414del, XM_011540366.3:c.-496_-484del, XR_001747259.2:n.215_227del, XM_017016935.2:c.-496_-484del, XM_047426008.1:c.-496_-484del, XM_047426009.1:c.-496_-484del, XM_047426010.1:c.-493_-481del, XM_047426011.1:c.-471_-459del, NM_001282905.1:c.-750_-738del, XM_047426012.1:c.-278_-266del, XM_047426014.1:c.-404_-392del, XM_047426013.1:c.-496_-484del

Select item 14877237976.

rs1487723797 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:45672525 (GRCh38)
10:46167973 (GRCh37)
Canonical SPDI:: NC_000010.11:45672524:A:G
Gene:: ZFAND4 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.45672525A>G, NC_000010.10:g.46167973A>G, NM_174890.4:c.-393T>C, NM_174890.3:c.-393T>C, NM_174890.2:c.-393T>C, XM_011540366.3:c.-463T>C, XR_001747259.2:n.248T>C, XM_017016935.2:c.-463T>C, XM_047426008.1:c.-463T>C, XM_047426009.1:c.-463T>C, XM_047426010.1:c.-460T>C, XM_047426011.1:c.-438T>C, NM_001282905.1:c.-717T>C, XM_047426012.1:c.-245T>C, XM_047426014.1:c.-371T>C, XM_047426013.1:c.-463T>C

Select item 14874259527.

rs1487425952 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:45626530 (GRCh38)
10:46121978 (GRCh37)
Canonical SPDI:: NC_000010.11:45626529:A:G
Gene:: ZFAND4 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.45626530A>G, NC_000010.10:g.46121978A>G, NM_174890.4:c.1293T>C, NM_174890.3:c.1293T>C, NM_174890.2:c.1293T>C, XM_011540366.3:c.1317T>C, XM_011540366.2:c.1317T>C, XM_011540366.1:c.1317T>C, XM_017016933.3:c.1311T>C, XM_017016933.2:c.1311T>C, XM_017016933.1:c.1311T>C, XM_017016939.3:c.1149T>C, XM_017016939.2:c.1149T>C, XM_017016939.1:c.1149T>C, XM_017016940.3:c.1089T>C, XM_017016940.2:c.1089T>C, XM_017016940.1:c.1089T>C, NM_001128324.2:c.1293T>C, NM_001128324.1:c.1293T>C, XM_017016931.2:c.1335T>C, XM_017016931.1:c.1335T>C, XR_001747259.2:n.2189T>C, XR_001747259.1:n.1325T>C, XM_017016935.2:c.1479T>C, XM_017016935.1:c.1311T>C, XM_011540368.2:c.777T>C, XM_011540368.1:c.777T>C, XM_047426008.1:c.1479T>C, XM_047426009.1:c.1461T>C, XM_047426010.1:c.1311T>C, XM_047426011.1:c.1311T>C, NM_001282905.1:c.1071T>C, XM_047426012.1:c.1311T>C, XM_047426014.1:c.1149T>C, NM_001282906.1:c.1071T>C, XM_047426017.1:c.1311T>C, XM_047426016.1:c.1014T>C, XM_047426013.1:c.1461T>C, XM_047426015.1:c.1293T>C

Select item 14871636858.

rs1487163685 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:45615795 (GRCh38)
10:46111243 (GRCh37)
Canonical SPDI:: NC_000010.11:45615794:C:T
Gene:: ZFAND4 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000010.11:g.45615795C>T, NC_000010.10:g.46111243C>T, NM_174890.4:c.*641G>A, NM_174890.3:c.*641G>A, NM_174890.2:c.*641G>A, XM_011540366.3:c.*641G>A, XM_011540366.2:c.*641G>A, XM_011540366.1:c.*641G>A, XM_017016933.3:c.*641G>A, XM_017016933.2:c.*641G>A, XM_017016933.1:c.*641G>A, XM_017016939.3:c.*641G>A, XM_017016939.2:c.*641G>A, XM_017016939.1:c.*641G>A, XM_017016940.3:c.*641G>A, XM_017016940.2:c.*641G>A, XM_017016940.1:c.*641G>A, NM_001128324.2:c.*641G>A, NM_001128324.1:c.*641G>A, XM_017016931.2:c.*641G>A, XM_017016931.1:c.*641G>A, XM_011540368.2:c.*641G>A, XM_011540368.1:c.*641G>A, XM_047426008.1:c.*641G>A, XM_047426009.1:c.*641G>A, XM_047426010.1:c.*641G>A, XM_047426011.1:c.*641G>A, NM_001282905.1:c.*641G>A, XM_047426012.1:c.*641G>A, XM_047426014.1:c.*641G>A, NM_001282906.1:c.*641G>A, XM_047426017.1:c.*641G>A, XM_047426016.1:c.*641G>A

Select item 14857335149.

rs1485733514 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:45626022 (GRCh38)
10:46121470 (GRCh37)
Canonical SPDI:: NC_000010.11:45626021:T:C
Gene:: ZFAND4 (Varview)
Functional Consequence:: intron_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.45626022T>C, NC_000010.10:g.46121470T>C, NM_174890.4:c.1801A>G, NM_174890.3:c.1801A>G, NM_174890.2:c.1801A>G, XM_011540366.3:c.1825A>G, XM_011540366.2:c.1825A>G, XM_011540366.1:c.1825A>G, XM_017016933.3:c.1819A>G, XM_017016933.2:c.1819A>G, XM_017016933.1:c.1819A>G, XM_017016939.3:c.1657A>G, XM_017016939.2:c.1657A>G, XM_017016939.1:c.1657A>G, XM_017016940.3:c.1597A>G, XM_017016940.2:c.1597A>G, XM_017016940.1:c.1597A>G, NM_001128324.2:c.1801A>G, NM_001128324.1:c.1801A>G, XM_017016931.2:c.1843A>G, XM_017016931.1:c.1843A>G, XR_001747259.2:n.2697A>G, XR_001747259.1:n.1833A>G, XM_017016935.2:c.1987A>G, XM_017016935.1:c.1819A>G, XM_011540368.2:c.1285A>G, XM_011540368.1:c.1285A>G, XM_047426008.1:c.1987A>G, XM_047426009.1:c.1969A>G, XM_047426010.1:c.1819A>G, XM_047426011.1:c.1819A>G, NM_001282905.1:c.1579A>G, XM_047426012.1:c.1819A>G, XM_047426014.1:c.1657A>G, NM_001282906.1:c.1579A>G, XM_047426017.1:c.1819A>G, XM_047426016.1:c.1522A>G, XM_047426013.1:c.1969A>G, XM_047426015.1:c.1801A>G, NP_777550.2:p.Asn601Asp, XP_011538668.1:p.Asn609Asp, XP_016872422.1:p.Asn607Asp, XP_016872428.1:p.Asn553Asp, XP_016872429.1:p.Asn533Asp, NP_001121796.1:p.Asn601Asp, XP_016872420.1:p.Asn615Asp, XP_016872424.2:p.Asn663Asp, XP_011538670.1:p.Asn429Asp, XP_047281964.1:p.Asn663Asp, XP_047281965.1:p.Asn657Asp, XP_047281966.1:p.Asn607Asp, XP_047281967.1:p.Asn607Asp, NP_001269834.1:p.Asn527Asp, XP_047281968.1:p.Asn607Asp, XP_047281970.1:p.Asn553Asp, NP_001269835.1:p.Asn527Asp, XP_047281973.1:p.Asn607Asp, XP_047281972.1:p.Asn508Asp, XP_047281969.1:p.Asn657Asp, XP_047281971.1:p.Asn601Asp

Select item 148529010710.

rs1485290107 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:45663563 (GRCh38)
10:46159011 (GRCh37)
Canonical SPDI:: NC_000010.11:45663562:C:T
Gene:: ZFAND4 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.45663563C>T, NC_000010.10:g.46159011C>T, NM_174890.4:c.163G>A, NM_174890.3:c.163G>A, NM_174890.2:c.163G>A, XM_011540366.3:c.331G>A, XM_011540366.2:c.331G>A, XM_011540366.1:c.331G>A, XM_017016933.3:c.163G>A, XM_017016933.2:c.163G>A, XM_017016933.1:c.163G>A, XM_017016939.3:c.163G>A, XM_017016939.2:c.163G>A, XM_017016939.1:c.163G>A, XM_017016940.3:c.-162G>A, XM_017016940.2:c.-162G>A, XM_017016940.1:c.-162G>A, NM_001128324.2:c.163G>A, NM_001128324.1:c.163G>A, XM_017016931.2:c.331G>A, XM_017016931.1:c.331G>A, XR_001747259.2:n.1041G>A, XR_001747259.1:n.177G>A, XM_017016935.2:c.331G>A, XM_017016935.1:c.163G>A, NR_104256.2:n.374G>A, NR_104256.1:n.415G>A, XM_047426008.1:c.331G>A, XM_047426009.1:c.331G>A, XM_047426010.1:c.163G>A, XM_047426011.1:c.163G>A, NM_001282905.1:c.-162G>A, XM_047426012.1:c.163G>A, XM_047426014.1:c.163G>A, NM_001282906.1:c.-162G>A, XM_047426017.1:c.163G>A, XM_047426016.1:c.-59G>A, XM_047426013.1:c.331G>A, XM_047426015.1:c.163G>A, XM_047426018.1:c.163G>A, NP_777550.2:p.Ala55Thr, XP_011538668.1:p.Ala111Thr, XP_016872422.1:p.Ala55Thr, XP_016872428.1:p.Ala55Thr, NP_001121796.1:p.Ala55Thr, XP_016872420.1:p.Ala111Thr, XP_016872424.2:p.Ala111Thr, XP_047281964.1:p.Ala111Thr, XP_047281965.1:p.Ala111Thr, XP_047281966.1:p.Ala55Thr, XP_047281967.1:p.Ala55Thr, XP_047281968.1:p.Ala55Thr, XP_047281970.1:p.Ala55Thr, XP_047281973.1:p.Ala55Thr, XP_047281969.1:p.Ala111Thr, XP_047281971.1:p.Ala55Thr, XP_047281974.1:p.Ala55Thr

Select item 148454858311.

rs1484548583 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 10:45672432 (GRCh38)
10:46167880 (GRCh37)
Canonical SPDI:: NC_000010.11:45672431:C:A,NC_000010.11:45672431:C:T
Gene:: ZFAND4 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000021/3 (GnomAD)
T=0.000023/6 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000010.11:g.45672432C>A, NC_000010.11:g.45672432C>T, NC_000010.10:g.46167880C>A, NC_000010.10:g.46167880C>T, NM_174890.4:c.-300G>T, NM_174890.4:c.-300G>A, NM_174890.3:c.-300G>T, NM_174890.3:c.-300G>A, NM_174890.2:c.-300G>T, NM_174890.2:c.-300G>A, XM_011540366.3:c.-370G>T, XM_011540366.3:c.-370G>A, XR_001747259.2:n.341G>T, XR_001747259.2:n.341G>A, XM_017016935.2:c.-370G>T, XM_017016935.2:c.-370G>A, XM_047426008.1:c.-370G>T, XM_047426008.1:c.-370G>A, XM_047426009.1:c.-370G>T, XM_047426009.1:c.-370G>A, XM_047426010.1:c.-367G>T, XM_047426010.1:c.-367G>A, XM_047426011.1:c.-345G>T, XM_047426011.1:c.-345G>A, NM_001282905.1:c.-624G>T, NM_001282905.1:c.-624G>A, XM_047426012.1:c.-152G>T, XM_047426012.1:c.-152G>A, XM_047426014.1:c.-278G>T, XM_047426014.1:c.-278G>A, XM_047426013.1:c.-370G>T, XM_047426013.1:c.-370G>A

Select item 148447137712.

rs1484471377 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:45653051 (GRCh38)
10:46148499 (GRCh37)
Canonical SPDI:: NC_000010.11:45653050:T:C
Gene:: ZFAND4 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.45653051T>C, NC_000010.10:g.46148499T>C, NM_174890.4:c.193A>G, NM_174890.3:c.193A>G, NM_174890.2:c.193A>G, XM_017016933.3:c.193A>G, XM_017016933.2:c.193A>G, XM_017016933.1:c.193A>G, XM_017016940.3:c.-30A>G, XM_017016940.2:c.-30A>G, XM_017016940.1:c.-30A>G, NM_001128324.2:c.193A>G, NM_001128324.1:c.193A>G, XR_001747259.2:n.1071A>G, XR_001747259.1:n.207A>G, XM_017016935.2:c.361A>G, XM_017016935.1:c.193A>G, NR_104256.2:n.404A>G, NR_104256.1:n.445A>G, XM_047426008.1:c.361A>G, XM_047426009.1:c.361A>G, XM_047426010.1:c.193A>G, XM_047426011.1:c.193A>G, NM_001282905.1:c.-30A>G, XM_047426012.1:c.193A>G, NM_001282906.1:c.-30A>G, XM_047426017.1:c.193A>G, XM_047426013.1:c.361A>G, XM_047426015.1:c.193A>G, XM_047426018.1:c.193A>G, NP_777550.2:p.Ile65Val, XP_016872422.1:p.Ile65Val, NP_001121796.1:p.Ile65Val, XP_016872424.2:p.Ile121Val, XP_047281964.1:p.Ile121Val, XP_047281965.1:p.Ile121Val, XP_047281966.1:p.Ile65Val, XP_047281967.1:p.Ile65Val, XP_047281968.1:p.Ile65Val, XP_047281973.1:p.Ile65Val, XP_047281969.1:p.Ile121Val, XP_047281971.1:p.Ile65Val, XP_047281974.1:p.Ile65Val

Select item 148106300213.

rs1481063002 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:45626799 (GRCh38)
10:46122247 (GRCh37)
Canonical SPDI:: NC_000010.11:45626798:G:A
Gene:: ZFAND4 (Varview)
Functional Consequence:: intron_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
HGVS:: NC_000010.11:g.45626799G>A, NC_000010.10:g.46122247G>A, NM_174890.4:c.1024C>T, NM_174890.3:c.1024C>T, NM_174890.2:c.1024C>T, XM_011540366.3:c.1048C>T, XM_011540366.2:c.1048C>T, XM_011540366.1:c.1048C>T, XM_017016933.3:c.1042C>T, XM_017016933.2:c.1042C>T, XM_017016933.1:c.1042C>T, XM_017016939.3:c.880C>T, XM_017016939.2:c.880C>T, XM_017016939.1:c.880C>T, XM_017016940.3:c.820C>T, XM_017016940.2:c.820C>T, XM_017016940.1:c.820C>T, NM_001128324.2:c.1024C>T, NM_001128324.1:c.1024C>T, XM_017016931.2:c.1066C>T, XM_017016931.1:c.1066C>T, XR_001747259.2:n.1920C>T, XR_001747259.1:n.1056C>T, XM_017016935.2:c.1210C>T, XM_017016935.1:c.1042C>T, XM_011540368.2:c.508C>T, XM_011540368.1:c.508C>T, XM_047426008.1:c.1210C>T, XM_047426009.1:c.1192C>T, XM_047426010.1:c.1042C>T, XM_047426011.1:c.1042C>T, NM_001282905.1:c.802C>T, XM_047426012.1:c.1042C>T, XM_047426014.1:c.880C>T, NM_001282906.1:c.802C>T, XM_047426017.1:c.1042C>T, XM_047426016.1:c.745C>T, XM_047426013.1:c.1192C>T, XM_047426015.1:c.1024C>T, NP_777550.2:p.Pro342Ser, XP_011538668.1:p.Pro350Ser, XP_016872422.1:p.Pro348Ser, XP_016872428.1:p.Pro294Ser, XP_016872429.1:p.Pro274Ser, NP_001121796.1:p.Pro342Ser, XP_016872420.1:p.Pro356Ser, XP_016872424.2:p.Pro404Ser, XP_011538670.1:p.Pro170Ser, XP_047281964.1:p.Pro404Ser, XP_047281965.1:p.Pro398Ser, XP_047281966.1:p.Pro348Ser, XP_047281967.1:p.Pro348Ser, NP_001269834.1:p.Pro268Ser, XP_047281968.1:p.Pro348Ser, XP_047281970.1:p.Pro294Ser, NP_001269835.1:p.Pro268Ser, XP_047281973.1:p.Pro348Ser, XP_047281972.1:p.Pro249Ser, XP_047281969.1:p.Pro398Ser, XP_047281971.1:p.Pro342Ser

Select item 148091499814.

rs1480914998 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTCCCATG>- [Show Flanks]
Chromosome:: 10:45663677 (GRCh38)
10:46159125 (GRCh37)
Canonical SPDI:: NC_000010.11:45663673:ATGGTCCCATG:ATG
Gene:: ZFAND4 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,frameshift_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATG=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.45663677_45663684del, NC_000010.10:g.46159125_46159132del, NM_174890.4:c.45_52del, NM_174890.3:c.45_52del, NM_174890.2:c.45_52del, XM_011540366.3:c.213_220del, XM_011540366.2:c.213_220del, XM_011540366.1:c.213_220del, XM_017016933.3:c.45_52del, XM_017016933.2:c.45_52del, XM_017016933.1:c.45_52del, XM_017016939.3:c.45_52del, XM_017016939.2:c.45_52del, XM_017016939.1:c.45_52del, NM_001128324.2:c.45_52del, NM_001128324.1:c.45_52del, XM_017016931.2:c.213_220del, XM_017016931.1:c.213_220del, XR_001747259.2:n.923_930del, XR_001747259.1:n.59_66del, XM_017016935.2:c.213_220del, XM_017016935.1:c.45_52del, NR_104256.2:n.256_263del, NR_104256.1:n.297_304del, XM_047426008.1:c.213_220del, XM_047426009.1:c.213_220del, XM_047426010.1:c.45_52del, XM_047426011.1:c.45_52del, NM_001282905.1:c.-280_-273del, XM_047426012.1:c.45_52del, XM_047426014.1:c.45_52del, NM_001282906.1:c.-280_-273del, XM_047426017.1:c.45_52del, XM_047426013.1:c.213_220del, XM_047426015.1:c.45_52del, XM_047426018.1:c.45_52del, NP_777550.2:p.Met15fs, XP_011538668.1:p.Met71fs, XP_016872422.1:p.Met15fs, XP_016872428.1:p.Met15fs, NP_001121796.1:p.Met15fs, XP_016872420.1:p.Met71fs, XP_016872424.2:p.Met71fs, XP_047281964.1:p.Met71fs, XP_047281965.1:p.Met71fs, XP_047281966.1:p.Met15fs, XP_047281967.1:p.Met15fs, XP_047281968.1:p.Met15fs, XP_047281970.1:p.Met15fs, XP_047281973.1:p.Met15fs, XP_047281969.1:p.Met71fs, XP_047281971.1:p.Met15fs, XP_047281974.1:p.Met15fs

Select item 147975390015.

rs1479753900 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:45624605 (GRCh38)
10:46120053 (GRCh37)
Canonical SPDI:: NC_000010.11:45624604:A:G
Gene:: ZFAND4 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.45624605A>G, NC_000010.10:g.46120053A>G, NM_174890.4:c.1905T>C, NM_174890.3:c.1905T>C, NM_174890.2:c.1905T>C, XM_011540366.3:c.1929T>C, XM_011540366.2:c.1929T>C, XM_011540366.1:c.1929T>C, XM_017016933.3:c.1923T>C, XM_017016933.2:c.1923T>C, XM_017016933.1:c.1923T>C, XM_017016939.3:c.1761T>C, XM_017016939.2:c.1761T>C, XM_017016939.1:c.1761T>C, XM_017016940.3:c.1701T>C, XM_017016940.2:c.1701T>C, XM_017016940.1:c.1701T>C, NM_001128324.2:c.1905T>C, NM_001128324.1:c.1905T>C, XM_017016931.2:c.1947T>C, XM_017016931.1:c.1947T>C, XR_001747259.2:n.2801T>C, XR_001747259.1:n.1937T>C, XM_011540368.2:c.1389T>C, XM_011540368.1:c.1389T>C, XM_047426008.1:c.2091T>C, XM_047426009.1:c.2073T>C, XM_047426010.1:c.1923T>C, XM_047426011.1:c.1923T>C, NM_001282905.1:c.1683T>C, XM_047426012.1:c.1923T>C, XM_047426014.1:c.1761T>C, NM_001282906.1:c.1683T>C, XM_047426017.1:c.1923T>C, XM_047426016.1:c.1626T>C

Select item 147952663816.

rs1479526638 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 10:45648466 (GRCh38)
10:46143914 (GRCh37)
Canonical SPDI:: NC_000010.11:45648465:T:G
Gene:: ZFAND4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.45648466T>G, NC_000010.10:g.46143914T>G, NM_174890.4:c.397A>C, NM_174890.3:c.397A>C, NM_174890.2:c.397A>C, XM_011540366.3:c.421A>C, XM_011540366.2:c.421A>C, XM_011540366.1:c.421A>C, XM_017016933.3:c.397A>C, XM_017016933.2:c.397A>C, XM_017016933.1:c.397A>C, XM_017016939.3:c.253A>C, XM_017016939.2:c.253A>C, XM_017016939.1:c.253A>C, XM_017016940.3:c.175A>C, XM_017016940.2:c.175A>C, XM_017016940.1:c.175A>C, NM_001128324.2:c.397A>C, NM_001128324.1:c.397A>C, XM_017016931.2:c.421A>C, XM_017016931.1:c.421A>C, XR_001747259.2:n.1275A>C, XR_001747259.1:n.411A>C, XM_017016935.2:c.565A>C, XM_017016935.1:c.397A>C, NR_104256.2:n.608A>C, NR_104256.1:n.649A>C, XM_047426008.1:c.565A>C, XM_047426009.1:c.565A>C, XM_047426010.1:c.397A>C, XM_047426011.1:c.397A>C, NM_001282905.1:c.175A>C, XM_047426012.1:c.397A>C, XM_047426014.1:c.253A>C, NM_001282906.1:c.175A>C, XM_047426017.1:c.397A>C, XM_047426016.1:c.100A>C, XM_047426013.1:c.565A>C, XM_047426015.1:c.397A>C, XM_047426018.1:c.397A>C, NP_777550.2:p.Lys133Gln, XP_011538668.1:p.Lys141Gln, XP_016872422.1:p.Lys133Gln, XP_016872428.1:p.Lys85Gln, XP_016872429.1:p.Lys59Gln, NP_001121796.1:p.Lys133Gln, XP_016872420.1:p.Lys141Gln, XP_016872424.2:p.Lys189Gln, XP_047281964.1:p.Lys189Gln, XP_047281965.1:p.Lys189Gln, XP_047281966.1:p.Lys133Gln, XP_047281967.1:p.Lys133Gln, NP_001269834.1:p.Lys59Gln, XP_047281968.1:p.Lys133Gln, XP_047281970.1:p.Lys85Gln, NP_001269835.1:p.Lys59Gln, XP_047281973.1:p.Lys133Gln, XP_047281972.1:p.Lys34Gln, XP_047281969.1:p.Lys189Gln, XP_047281971.1:p.Lys133Gln, XP_047281974.1:p.Lys133Gln

Select item 147924539417.

rs1479245394 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:45672632 (GRCh38)
10:46168080 (GRCh37)
Canonical SPDI:: NC_000010.11:45672631:G:A
Gene:: ZFAND4 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000010.11:g.45672632G>A, NC_000010.10:g.46168080G>A, NM_174890.4:c.-500C>T, NM_174890.3:c.-500C>T, NM_174890.2:c.-500C>T, XM_011540366.3:c.-570C>T, XR_001747259.2:n.141C>T, XM_017016935.2:c.-570C>T, XM_047426008.1:c.-570C>T, XM_047426009.1:c.-570C>T, XM_047426010.1:c.-567C>T, XM_047426011.1:c.-545C>T, NM_001282905.1:c.-824C>T, XM_047426012.1:c.-352C>T, XM_047426014.1:c.-478C>T, XM_047426013.1:c.-570C>T

Select item 147691117018.

rs1476911170 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:45627020 (GRCh38)
10:46122468 (GRCh37)
Canonical SPDI:: NC_000010.11:45627019:A:G
Gene:: ZFAND4 (Varview)
Functional Consequence:: intron_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.45627020A>G, NC_000010.10:g.46122468A>G, NM_174890.4:c.803T>C, NM_174890.3:c.803T>C, NM_174890.2:c.803T>C, XM_011540366.3:c.827T>C, XM_011540366.2:c.827T>C, XM_011540366.1:c.827T>C, XM_017016933.3:c.821T>C, XM_017016933.2:c.821T>C, XM_017016933.1:c.821T>C, XM_017016939.3:c.659T>C, XM_017016939.2:c.659T>C, XM_017016939.1:c.659T>C, XM_017016940.3:c.599T>C, XM_017016940.2:c.599T>C, XM_017016940.1:c.599T>C, NM_001128324.2:c.803T>C, NM_001128324.1:c.803T>C, XM_017016931.2:c.845T>C, XM_017016931.1:c.845T>C, XR_001747259.2:n.1699T>C, XR_001747259.1:n.835T>C, XM_017016935.2:c.989T>C, XM_017016935.1:c.821T>C, XM_011540368.2:c.287T>C, XM_011540368.1:c.287T>C, XM_047426008.1:c.989T>C, XM_047426009.1:c.971T>C, XM_047426010.1:c.821T>C, XM_047426011.1:c.821T>C, NM_001282905.1:c.581T>C, XM_047426012.1:c.821T>C, XM_047426014.1:c.659T>C, NM_001282906.1:c.581T>C, XM_047426017.1:c.821T>C, XM_047426016.1:c.524T>C, XM_047426013.1:c.971T>C, XM_047426015.1:c.803T>C, NP_777550.2:p.Leu268Ser, XP_011538668.1:p.Leu276Ser, XP_016872422.1:p.Leu274Ser, XP_016872428.1:p.Leu220Ser, XP_016872429.1:p.Leu200Ser, NP_001121796.1:p.Leu268Ser, XP_016872420.1:p.Leu282Ser, XP_016872424.2:p.Leu330Ser, XP_011538670.1:p.Leu96Ser, XP_047281964.1:p.Leu330Ser, XP_047281965.1:p.Leu324Ser, XP_047281966.1:p.Leu274Ser, XP_047281967.1:p.Leu274Ser, NP_001269834.1:p.Leu194Ser, XP_047281968.1:p.Leu274Ser, XP_047281970.1:p.Leu220Ser, NP_001269835.1:p.Leu194Ser, XP_047281973.1:p.Leu274Ser, XP_047281972.1:p.Leu175Ser, XP_047281969.1:p.Leu324Ser, XP_047281971.1:p.Leu268Ser

Select item 147672623319.

rs1476726233 [Homo sapiens]

Variant type:: DELINS
Alleles:: CATAATGAAATT>- [Show Flanks]
Chromosome:: 10:45615593 (GRCh38)
10:46111041 (GRCh37)
Canonical SPDI:: NC_000010.11:45615581:ATAATGAAATTCATAATGAAATT:ATAATGAAATT
Gene:: ZFAND4 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATAATGAAATT=0./0 (ALFA)
-=0.000043/6 (GnomAD)
-=0.000049/13 (TOPMED)
HGVS:: NC_000010.11:g.45615593_45615604del, NC_000010.10:g.46111041_46111052del, NM_174890.4:c.*843_*854del, NM_174890.3:c.*843_*854del, NM_174890.2:c.*845_*846insTTTCATTAT, NM_174890.2:c.*843_*845del, XM_011540366.3:c.*843_*854del, XM_011540366.2:c.*843_*854del, XM_011540366.1:c.*843_*854del, XM_017016933.3:c.*843_*854del, XM_017016933.2:c.*843_*854del, XM_017016933.1:c.*843_*854del, XM_017016939.3:c.*843_*854del, XM_017016939.2:c.*843_*854del, XM_017016939.1:c.*843_*854del, XM_017016940.3:c.*843_*854del, XM_017016940.2:c.*843_*854del, XM_017016940.1:c.*843_*854del, NM_001128324.2:c.*843_*854del, NM_001128324.1:c.*845_*846insTTTCATTAT, NM_001128324.1:c.*843_*845del, XM_017016931.2:c.*843_*854del, XM_017016931.1:c.*843_*854del, XM_011540368.2:c.*843_*854del, XM_011540368.1:c.*843_*854del, XM_047426008.1:c.*843_*854del, XM_047426009.1:c.*843_*854del, XM_047426010.1:c.*843_*854del, XM_047426011.1:c.*843_*854del, NM_001282905.1:c.*843_*854del, XM_047426012.1:c.*843_*854del, XM_047426014.1:c.*843_*854del, NM_001282906.1:c.*843_*854del, XM_047426017.1:c.*843_*854del, XM_047426016.1:c.*843_*854del

Select item 147241437220.

rs1472414372 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 10:45662671 (GRCh38)
10:46158119 (GRCh37)
Canonical SPDI:: NC_000010.11:45662670:A:T
Gene:: ZFAND4 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,genic_upstream_transcript_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_000010.11:g.45662671A>T, NC_000010.10:g.46158119A>T, XM_017016940.3:c.-130T>A, XM_017016940.2:c.-130T>A, XM_017016940.1:c.-130T>A, NM_001282905.1:c.-130T>A, NM_001282906.1:c.-130T>A

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