SNP Links for Nucleotide (Select 537544576) - SNP

Links from Nucleotide

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Select item 14907691881.

rs1490769188 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:23556864 (GRCh38)
14:24026073 (GRCh37)
Canonical SPDI:: NC_000014.9:23556863:G:A
Gene:: THTPA (Varview), ZFHX2 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,coding_sequence_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.23556864G>A, NC_000014.8:g.24026073G>A, NM_024328.6:c.107G>A, NM_024328.5:c.107G>A, NM_024328.4:c.107G>A, NM_001126339.3:c.107G>A, NM_001126339.2:c.107G>A, NM_001256062.2:c.107G>A, NM_001256062.1:c.107G>A, NM_001256322.2:c.107G>A, NM_001256322.1:c.107G>A, NM_001256321.2:c.107G>A, NM_001256321.1:c.107G>A, NM_001256323.2:c.107G>A, NM_001256323.1:c.107G>A, NP_077304.1:p.Arg36Gln, NP_001119811.1:p.Arg36Gln, NP_001242991.1:p.Arg36Gln, NP_001243251.1:p.Arg36Gln, NP_001243250.1:p.Arg36Gln, NP_001243252.1:p.Arg36Gln

Select item 14839300112.

rs1483930011 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:23558793 (GRCh38)
14:24028002 (GRCh37)
Canonical SPDI:: NC_000014.9:23558792:A:G
Gene:: THTPA (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant,3_prime_UTR_variant
HGVS:: NC_000014.9:g.23558793A>G, NC_000014.8:g.24028002A>G, NG_011937.1:g.14278T>C, NM_024328.6:c.646A>G, NM_024328.5:c.646A>G, NM_024328.4:c.646A>G, NR_023314.4:n.461A>G, NR_023314.3:n.454A>G, NM_001126339.3:c.646A>G, NM_001126339.2:c.646A>G, NM_001256062.2:c.*63A>G, NM_001256062.1:c.*63A>G, NM_001256322.2:c.376A>G, NM_001256322.1:c.376A>G, NM_001256321.2:c.*63A>G, NM_001256321.1:c.*63A>G, NM_001256323.2:c.376A>G, NM_001256323.1:c.376A>G, NR_046051.1:n.564A>G, NR_046052.1:n.344A>G, NP_077304.1:p.Arg216Gly, NP_001119811.1:p.Arg216Gly, NP_001243251.1:p.Arg126Gly, NP_001243252.1:p.Arg126Gly

Select item 14833096843.

rs1483309684 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 14:23559164 (GRCh38)
14:24028373 (GRCh37)
Canonical SPDI:: NC_000014.9:23559163:C:G
Gene:: AP1G2 (Varview), THTPA (Varview), AP1G2-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,3_prime_UTR_variant,500B_downstream_variant,upstream_transcript_variant,non_coding_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.23559164C>G, NC_000014.8:g.24028373C>G, NG_011937.1:g.13907G>C, NM_024328.6:c.*324C>G, NM_024328.5:c.*324C>G, NM_024328.4:c.*324C>G, NR_023314.4:n.832C>G, NR_023314.3:n.825C>G, NM_001126339.3:c.*324C>G, NM_001126339.2:c.*324C>G, NM_001256062.2:c.*434C>G, NM_001256062.1:c.*434C>G, NM_001256322.2:c.*324C>G, NM_001256322.1:c.*324C>G, NM_001256321.2:c.*434C>G, NM_001256321.1:c.*434C>G, NM_001256323.2:c.*324C>G, NM_001256323.1:c.*324C>G, NR_046051.1:n.935C>G, NR_046052.1:n.715C>G

Select item 14823406194.

rs1482340619 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 14:23559106 (GRCh38)
14:24028315 (GRCh37)
Canonical SPDI:: NC_000014.9:23559105:T:G
Gene:: AP1G2 (Varview), THTPA (Varview), AP1G2-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,3_prime_UTR_variant,500B_downstream_variant,upstream_transcript_variant,non_coding_transcript_variant,downstream_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_000014.9:g.23559106T>G, NC_000014.8:g.24028315T>G, NG_011937.1:g.13965A>C, NM_024328.6:c.*266T>G, NM_024328.5:c.*266T>G, NM_024328.4:c.*266T>G, NR_023314.4:n.774T>G, NR_023314.3:n.767T>G, NM_001126339.3:c.*266T>G, NM_001126339.2:c.*266T>G, NM_001256062.2:c.*376T>G, NM_001256062.1:c.*376T>G, NM_001256322.2:c.*266T>G, NM_001256322.1:c.*266T>G, NM_001256321.2:c.*376T>G, NM_001256321.1:c.*376T>G, NM_001256323.2:c.*266T>G, NM_001256323.1:c.*266T>G, NR_046051.1:n.877T>G, NR_046052.1:n.657T>G

Select item 14813074885.

rs1481307488 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:23556806 (GRCh38)
14:24026015 (GRCh37)
Canonical SPDI:: NC_000014.9:23556805:G:A
Gene:: THTPA (Varview), ZFHX2 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,coding_sequence_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.23556806G>A, NC_000014.8:g.24026015G>A, NM_024328.6:c.49G>A, NM_024328.5:c.49G>A, NM_024328.4:c.49G>A, NM_001126339.3:c.49G>A, NM_001126339.2:c.49G>A, NM_001256062.2:c.49G>A, NM_001256062.1:c.49G>A, NM_001256322.2:c.49G>A, NM_001256322.1:c.49G>A, NM_001256321.2:c.49G>A, NM_001256321.1:c.49G>A, NM_001256323.2:c.49G>A, NM_001256323.1:c.49G>A, NP_077304.1:p.Gly17Ser, NP_001119811.1:p.Gly17Ser, NP_001242991.1:p.Gly17Ser, NP_001243251.1:p.Gly17Ser, NP_001243250.1:p.Gly17Ser, NP_001243252.1:p.Gly17Ser

Select item 14795220526.

rs1479522052 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 14:23558832 (GRCh38)
14:24028041 (GRCh37)
Canonical SPDI:: NC_000014.9:23558831:C:G
Gene:: THTPA (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000014.9:g.23558832C>G, NC_000014.8:g.24028041C>G, NG_011937.1:g.14239G>C, NM_024328.6:c.685C>G, NM_024328.5:c.685C>G, NM_024328.4:c.685C>G, NR_023314.4:n.500C>G, NR_023314.3:n.493C>G, NM_001126339.3:c.685C>G, NM_001126339.2:c.685C>G, NM_001256062.2:c.*102C>G, NM_001256062.1:c.*102C>G, NM_001256322.2:c.415C>G, NM_001256322.1:c.415C>G, NM_001256321.2:c.*102C>G, NM_001256321.1:c.*102C>G, NM_001256323.2:c.415C>G, NM_001256323.1:c.415C>G, NR_046051.1:n.603C>G, NR_046052.1:n.383C>G, NP_077304.1:p.Leu229Val, NP_001119811.1:p.Leu229Val, NP_001243251.1:p.Leu139Val, NP_001243252.1:p.Leu139Val

Select item 14747826577.

rs1474782657 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:23556940 (GRCh38)
14:24026149 (GRCh37)
Canonical SPDI:: NC_000014.9:23556939:A:G
Gene:: THTPA (Varview), ZFHX2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000014.9:g.23556940A>G, NC_000014.8:g.24026149A>G, NM_024328.6:c.183A>G, NM_024328.5:c.183A>G, NM_024328.4:c.183A>G, NM_001126339.3:c.183A>G, NM_001126339.2:c.183A>G, NM_001256062.2:c.183A>G, NM_001256062.1:c.183A>G, NM_001256322.2:c.183A>G, NM_001256322.1:c.183A>G, NM_001256321.2:c.183A>G, NM_001256321.1:c.183A>G, NM_001256323.2:c.183A>G, NM_001256323.1:c.183A>G

Select item 14727254058.

rs1472725405 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 14:23556626 (GRCh38)
14:24025835 (GRCh37)
Canonical SPDI:: NC_000014.9:23556625:T:A
Gene:: THTPA (Varview), ZFHX2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.0002/1 (ALFA)
A=0.0002/1 (Estonian)
HGVS:: NC_000014.9:g.23556626T>A, NC_000014.8:g.24025835T>A, NM_024328.6:c.-132T>A, NM_024328.5:c.-132T>A, NM_024328.4:c.-132T>A, NM_001256062.2:c.-132T>A, NM_001256062.1:c.-132T>A, NM_001256322.2:c.-132T>A, NM_001256322.1:c.-132T>A

Select item 14721693119.

rs1472169311 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 14:23558778 (GRCh38)
14:24027987 (GRCh37)
Canonical SPDI:: NC_000014.9:23558777:G:
Gene:: THTPA (Varview)
Functional Consequence:: frameshift_variant,non_coding_transcript_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.23558778del, NC_000014.8:g.24027987del, NG_011937.1:g.14293del, NM_024328.6:c.631del, NM_024328.5:c.631del, NM_024328.4:c.631del, NR_023314.4:n.446del, NR_023314.3:n.439del, NM_001126339.3:c.631del, NM_001126339.2:c.631del, NM_001256062.2:c.*48del, NM_001256062.1:c.*48del, NM_001256322.2:c.361del, NM_001256322.1:c.361del, NM_001256321.2:c.*48del, NM_001256321.1:c.*48del, NM_001256323.2:c.361del, NM_001256323.1:c.361del, NR_046051.1:n.549del, NR_046052.1:n.329del, NP_077304.1:p.Glu211fs, NP_001119811.1:p.Glu211fs, NP_001243251.1:p.Glu121fs, NP_001243252.1:p.Glu121fs

Select item 147134180710.

rs1471341807 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:23558909 (GRCh38)
14:24028118 (GRCh37)
Canonical SPDI:: NC_000014.9:23558908:C:T
Gene:: THTPA (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.23558909C>T, NC_000014.8:g.24028118C>T, NG_011937.1:g.14162G>A, NM_024328.6:c.*69C>T, NM_024328.5:c.*69C>T, NM_024328.4:c.*69C>T, NR_023314.4:n.577C>T, NR_023314.3:n.570C>T, NM_001126339.3:c.*69C>T, NM_001126339.2:c.*69C>T, NM_001256062.2:c.*179C>T, NM_001256062.1:c.*179C>T, NM_001256322.2:c.*69C>T, NM_001256322.1:c.*69C>T, NM_001256321.2:c.*179C>T, NM_001256321.1:c.*179C>T, NM_001256323.2:c.*69C>T, NM_001256323.1:c.*69C>T, NR_046051.1:n.680C>T, NR_046052.1:n.460C>T

Select item 147083685711.

rs1470836857 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 14:23556992 (GRCh38)
14:24026202 (GRCh37)
Canonical SPDI:: NC_000014.9:23556992:A:AA
Gene:: THTPA (Varview), ZFHX2 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.23556993dup, NC_000014.8:g.24026202dup, NM_024328.6:c.236dup, NM_024328.5:c.236dup, NM_024328.4:c.236dup, NM_001126339.3:c.236dup, NM_001126339.2:c.236dup, NM_001256062.2:c.236dup, NM_001256062.1:c.236dup, NM_001256322.2:c.236dup, NM_001256322.1:c.236dup, NM_001256321.2:c.236dup, NM_001256321.1:c.236dup, NM_001256323.2:c.236dup, NM_001256323.1:c.236dup, NP_077304.1:p.Tyr79Ter, NP_001119811.1:p.Tyr79Ter, NP_001242991.1:p.Tyr79Ter, NP_001243251.1:p.Tyr79Ter, NP_001243250.1:p.Tyr79Ter, NP_001243252.1:p.Tyr79Ter

Select item 147066094612.

rs1470660946 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 14:23558781 (GRCh38)
14:24027990 (GRCh37)
Canonical SPDI:: NC_000014.9:23558780:G:C
Gene:: THTPA (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.23558781G>C, NC_000014.8:g.24027990G>C, NG_011937.1:g.14290C>G, NM_024328.6:c.634G>C, NM_024328.5:c.634G>C, NM_024328.4:c.634G>C, NR_023314.4:n.449G>C, NR_023314.3:n.442G>C, NM_001126339.3:c.634G>C, NM_001126339.2:c.634G>C, NM_001256062.2:c.*51G>C, NM_001256062.1:c.*51G>C, NM_001256322.2:c.364G>C, NM_001256322.1:c.364G>C, NM_001256321.2:c.*51G>C, NM_001256321.1:c.*51G>C, NM_001256323.2:c.364G>C, NM_001256323.1:c.364G>C, NR_046051.1:n.552G>C, NR_046052.1:n.332G>C, NP_077304.1:p.Val212Leu, NP_001119811.1:p.Val212Leu, NP_001243251.1:p.Val122Leu, NP_001243252.1:p.Val122Leu

Select item 146987764913.

rs1469877649 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:23556798 (GRCh38)
14:24026007 (GRCh37)
Canonical SPDI:: NC_000014.9:23556797:C:T
Gene:: THTPA (Varview), ZFHX2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (GnomAD_exomes)
T=0.000019/5 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000014.9:g.23556798C>T, NC_000014.8:g.24026007C>T, NM_024328.6:c.41C>T, NM_024328.5:c.41C>T, NM_024328.4:c.41C>T, NM_001126339.3:c.41C>T, NM_001126339.2:c.41C>T, NM_001256062.2:c.41C>T, NM_001256062.1:c.41C>T, NM_001256322.2:c.41C>T, NM_001256322.1:c.41C>T, NM_001256321.2:c.41C>T, NM_001256321.1:c.41C>T, NM_001256323.2:c.41C>T, NM_001256323.1:c.41C>T, NP_077304.1:p.Pro14Leu, NP_001119811.1:p.Pro14Leu, NP_001242991.1:p.Pro14Leu, NP_001243251.1:p.Pro14Leu, NP_001243250.1:p.Pro14Leu, NP_001243252.1:p.Pro14Leu

Select item 146961980914.

rs1469619809 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 14:23556516 (GRCh38)
14:24025725 (GRCh37)
Canonical SPDI:: NC_000014.9:23556515:G:C
Gene:: THTPA (Varview), ZFHX2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000023/6 (TOPMED)
HGVS:: NC_000014.9:g.23556516G>C, NC_000014.8:g.24025725G>C, NM_024328.6:c.-242G>C, NM_024328.5:c.-242G>C, NM_024328.4:c.-242G>C, NM_001256062.2:c.-242G>C, NM_001256062.1:c.-242G>C, NM_001256322.2:c.-242G>C, NM_001256322.1:c.-242G>C

Select item 146951029515.

rs1469510295 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 14:23559358 (GRCh38)
14:24028567 (GRCh37)
Canonical SPDI:: NC_000014.9:23559357:C:G
Gene:: AP1G2 (Varview), THTPA (Varview), AP1G2-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.23559358C>G, NC_000014.8:g.24028567C>G, NG_011937.1:g.13713G>C, NM_024328.6:c.*518C>G, NM_024328.5:c.*518C>G, NM_024328.4:c.*518C>G, NR_023314.4:n.1026C>G, NR_023314.3:n.1019C>G, NM_001126339.3:c.*518C>G, NM_001126339.2:c.*518C>G, NM_001256062.2:c.*628C>G, NM_001256062.1:c.*628C>G, NM_001256322.2:c.*518C>G, NM_001256322.1:c.*518C>G, NM_001256321.2:c.*628C>G, NM_001256321.1:c.*628C>G, NM_001256323.2:c.*518C>G, NM_001256323.1:c.*518C>G, NR_046051.1:n.1129C>G, NR_046052.1:n.909C>G

Select item 146715600016.

rs1467156000 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:23559079 (GRCh38)
14:24028288 (GRCh37)
Canonical SPDI:: NC_000014.9:23559078:C:T
Gene:: AP1G2 (Varview), THTPA (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000014.9:g.23559079C>T, NC_000014.8:g.24028288C>T, NG_011937.1:g.13992G>A, NM_024328.6:c.*239C>T, NM_024328.5:c.*239C>T, NM_024328.4:c.*239C>T, NR_023314.4:n.747C>T, NR_023314.3:n.740C>T, NM_001126339.3:c.*239C>T, NM_001126339.2:c.*239C>T, NM_001256062.2:c.*349C>T, NM_001256062.1:c.*349C>T, NM_001256322.2:c.*239C>T, NM_001256322.1:c.*239C>T, NM_001256321.2:c.*349C>T, NM_001256321.1:c.*349C>T, NM_001256323.2:c.*239C>T, NM_001256323.1:c.*239C>T, NR_046051.1:n.850C>T, NR_046052.1:n.630C>T

Select item 146566782917.

rs1465667829 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 14:23556818 (GRCh38)
14:24026027 (GRCh37)
Canonical SPDI:: NC_000014.9:23556817:C:G
Gene:: THTPA (Varview), ZFHX2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant
HGVS:: NC_000014.9:g.23556818C>G, NC_000014.8:g.24026027C>G, NM_024328.6:c.61C>G, NM_024328.5:c.61C>G, NM_024328.4:c.61C>G, NM_001126339.3:c.61C>G, NM_001126339.2:c.61C>G, NM_001256062.2:c.61C>G, NM_001256062.1:c.61C>G, NM_001256322.2:c.61C>G, NM_001256322.1:c.61C>G, NM_001256321.2:c.61C>G, NM_001256321.1:c.61C>G, NM_001256323.2:c.61C>G, NM_001256323.1:c.61C>G, NP_077304.1:p.Arg21Gly, NP_001119811.1:p.Arg21Gly, NP_001242991.1:p.Arg21Gly, NP_001243251.1:p.Arg21Gly, NP_001243250.1:p.Arg21Gly, NP_001243252.1:p.Arg21Gly

Select item 145984475718.

rs1459844757 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 14:23556064 (GRCh38)
14:24025273 (GRCh37)
Canonical SPDI:: NC_000014.9:23556063:G:A,NC_000014.9:23556063:G:C
Gene:: THTPA (Varview), ZFHX2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00033/5 (ALFA)
C=0.000021/3 (GnomAD)
C=0.001116/5 (Estonian)
HGVS:: NC_000014.9:g.23556064G>A, NC_000014.9:g.23556064G>C, NC_000014.8:g.24025273G>A, NC_000014.8:g.24025273G>C, NM_024328.5:c.-694G>A, NM_024328.5:c.-694G>C, NM_024328.4:c.-694G>A, NM_024328.4:c.-694G>C, NR_023314.4:n.83G>A, NR_023314.4:n.83G>C, NR_023314.3:n.76G>A, NR_023314.3:n.76G>C, NM_001126339.3:c.-295G>A, NM_001126339.3:c.-295G>C, NM_001126339.2:c.-295G>A, NM_001126339.2:c.-295G>C, NM_001256062.2:c.-694G>A, NM_001256062.2:c.-694G>C, NM_001256062.1:c.-694G>A, NM_001256062.1:c.-694G>C, NM_001256322.2:c.-694G>A, NM_001256322.2:c.-694G>C, NM_001256322.1:c.-694G>A, NM_001256322.1:c.-694G>C, NM_001256321.2:c.-295G>A, NM_001256321.2:c.-295G>C, NM_001256321.1:c.-295G>A, NM_001256321.1:c.-295G>C, NM_001256323.2:c.-295G>A, NM_001256323.2:c.-295G>C, NM_001256323.1:c.-295G>A, NM_001256323.1:c.-295G>C

Select item 145887233519.

rs1458872335 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 14:23559343 (GRCh38)
14:24028552 (GRCh37)
Canonical SPDI:: NC_000014.9:23559342:G:
Gene:: AP1G2 (Varview), THTPA (Varview), AP1G2-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.23559343del, NC_000014.8:g.24028552del, NG_011937.1:g.13728del, NM_024328.6:c.*503del, NM_024328.5:c.*503del, NM_024328.4:c.*503del, NR_023314.4:n.1011del, NR_023314.3:n.1004del, NM_001126339.3:c.*503del, NM_001126339.2:c.*503del, NM_001256062.2:c.*613del, NM_001256062.1:c.*613del, NM_001256322.2:c.*503del, NM_001256322.1:c.*503del, NM_001256321.2:c.*613del, NM_001256321.1:c.*613del, NM_001256323.2:c.*503del, NM_001256323.1:c.*503del, NR_046051.1:n.1114del, NR_046052.1:n.894del

Select item 145824554520.

rs1458245545 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 14:23556790 (GRCh38)
14:24025999 (GRCh37)
Canonical SPDI:: NC_000014.9:23556789:G:T
Gene:: THTPA (Varview), ZFHX2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant
HGVS:: NC_000014.9:g.23556790G>T, NC_000014.8:g.24025999G>T, NM_024328.6:c.33G>T, NM_024328.5:c.33G>T, NM_024328.4:c.33G>T, NM_001126339.3:c.33G>T, NM_001126339.2:c.33G>T, NM_001256062.2:c.33G>T, NM_001256062.1:c.33G>T, NM_001256322.2:c.33G>T, NM_001256322.1:c.33G>T, NM_001256321.2:c.33G>T, NM_001256321.1:c.33G>T, NM_001256323.2:c.33G>T, NM_001256323.1:c.33G>T, NP_077304.1:p.Lys11Asn, NP_001119811.1:p.Lys11Asn, NP_001242991.1:p.Lys11Asn, NP_001243251.1:p.Lys11Asn, NP_001243250.1:p.Lys11Asn, NP_001243252.1:p.Lys11Asn

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