SNP Links for Nucleotide (Select 224493979) - SNP

Links from Nucleotide

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Select item 14892365711.

rs1489236571 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:15113252 (GRCh38)
1:15439748 (GRCh37)
Canonical SPDI:: NC_000001.11:15113251:G:A,NC_000001.11:15113251:G:T
Gene:: KAZN (Varview), TMEM51-AS1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.15113252G>A, NC_000001.11:g.15113252G>T, NC_000001.10:g.15439748G>A, NC_000001.10:g.15439748G>T, NG_029844.2:g.1224867G>A, NG_029844.2:g.1224867G>T, XM_011541074.4:c.*228G>A, XM_011541074.4:c.*228G>T, XM_011541074.3:c.*228G>A, XM_011541074.3:c.*228G>T, XM_011541074.2:c.*228G>A, XM_011541074.2:c.*228G>T, XM_011541074.1:c.*228G>A, XM_011541074.1:c.*228G>T, XM_011541075.3:c.*228G>A, XM_011541075.3:c.*228G>T, XM_011541075.2:c.*228G>A, XM_011541075.2:c.*228G>T, XM_011541075.1:c.*228G>A, XM_011541075.1:c.*228G>T, XM_011541076.3:c.*228G>A, XM_011541076.3:c.*228G>T, XM_011541076.2:c.*228G>A, XM_011541076.2:c.*228G>T, XM_011541076.1:c.*228G>A, XM_011541076.1:c.*228G>T, XM_011541077.3:c.*228G>A, XM_011541077.3:c.*228G>T, XM_011541077.2:c.*228G>A, XM_011541077.2:c.*228G>T, XM_011541077.1:c.*228G>A, XM_011541077.1:c.*228G>T, XM_047415858.1:c.*228G>A, XM_047415858.1:c.*228G>T, XM_047415845.1:c.*228G>A, XM_047415845.1:c.*228G>T, NR_027136.1:n.5542C>T, NR_027136.1:n.5542C>A, XM_047415868.1:c.*228G>A, XM_047415868.1:c.*228G>T

Select item 14885410082.

rs1488541008 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:15118845 (GRCh38)
1:15445341 (GRCh37)
Canonical SPDI:: NC_000001.11:15118844:T:C
Gene:: TMEM51-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000026/7 (TOPMED)
C=0.000036/5 (GnomAD)
HGVS:: NC_000001.11:g.15118845T>C, NC_000001.10:g.15445341T>C, NG_029844.2:g.1230460T>C, NR_027136.1:n.468A>G, NM_182534.1:c.*175A>G

Select item 14879809503.

rs1487980950 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:15116858 (GRCh38)
1:15443354 (GRCh37)
Canonical SPDI:: NC_000001.11:15116857:T:C
Gene:: KAZN (Varview), TMEM51-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.15116858T>C, NC_000001.10:g.15443354T>C, NG_029844.2:g.1228473T>C, NM_201628.3:c.*2223T>C, NM_201628.2:c.*2223T>C, XM_005245795.6:c.*2223T>C, XM_005245795.5:c.*2223T>C, XM_005245795.4:c.*2223T>C, XM_005245795.3:c.*2223T>C, XM_005245795.2:c.*2223T>C, XM_005245795.1:c.*2223T>C, XM_011541074.4:c.*3834T>C, XM_011541074.3:c.*3834T>C, XM_011541074.2:c.*3834T>C, XM_011541075.3:c.*3834T>C, XM_011541075.2:c.*3834T>C, XM_011541076.3:c.*3834T>C, XM_011541076.2:c.*3834T>C, XM_011541077.3:c.*3834T>C, XM_011541077.2:c.*3834T>C, XM_047415858.1:c.*3834T>C, XM_047415845.1:c.*3834T>C, NR_027136.1:n.1936A>G, XM_047415868.1:c.*3834T>C, NM_182534.1:c.*1643A>G

Select item 14869535454.

rs1486953545 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:15113105 (GRCh38)
1:15439601 (GRCh37)
Canonical SPDI:: NC_000001.11:15113104:A:G
Gene:: KAZN (Varview), TMEM51-AS1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000106/2 (TOMMO)
HGVS:: NC_000001.11:g.15113105A>G, NC_000001.10:g.15439601A>G, NG_029844.2:g.1224720A>G, XM_011541074.4:c.*81A>G, XM_011541074.3:c.*81A>G, XM_011541074.2:c.*81A>G, XM_011541074.1:c.*81A>G, XM_011541075.3:c.*81A>G, XM_011541075.2:c.*81A>G, XM_011541075.1:c.*81A>G, XM_011541076.3:c.*81A>G, XM_011541076.2:c.*81A>G, XM_011541076.1:c.*81A>G, XM_011541077.3:c.*81A>G, XM_011541077.2:c.*81A>G, XM_011541077.1:c.*81A>G, XM_047415858.1:c.*81A>G, XM_047415845.1:c.*81A>G, NR_027136.1:n.5689T>C, XM_047415868.1:c.*81A>G

Select item 14869233145.

rs1486923314 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:15112263 (GRCh38)
1:15438759 (GRCh37)
Canonical SPDI:: NC_000001.11:15112262:G:A
Gene:: KAZN (Varview), TMEM51-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.15112263G>A, NC_000001.10:g.15438759G>A, NG_029844.2:g.1223878G>A, NR_027136.1:n.6531C>T

Select item 14853789226.

rs1485378922 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:15111870 (GRCh38)
1:15438366 (GRCh37)
Canonical SPDI:: NC_000001.11:15111869:C:A,NC_000001.11:15111869:C:T
Gene:: KAZN (Varview), TMEM51-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.15111870C>A, NC_000001.11:g.15111870C>T, NC_000001.10:g.15438366C>A, NC_000001.10:g.15438366C>T, NG_029844.2:g.1223485C>A, NG_029844.2:g.1223485C>T, NR_027136.1:n.6924G>T, NR_027136.1:n.6924G>A

Select item 14851596307.

rs1485159630 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:15112979 (GRCh38)
1:15439475 (GRCh37)
Canonical SPDI:: NC_000001.11:15112978:C:A
Gene:: KAZN (Varview), TMEM51-AS1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.15112979C>A, NC_000001.10:g.15439475C>A, NG_029844.2:g.1224594C>A, XM_011541074.4:c.2895C>A, XM_011541074.3:c.2895C>A, XM_011541074.2:c.2895C>A, XM_011541074.1:c.2895C>A, XM_011541075.3:c.2583C>A, XM_011541075.2:c.2583C>A, XM_011541075.1:c.2583C>A, XM_011541076.3:c.2319C>A, XM_011541076.2:c.2319C>A, XM_011541076.1:c.2319C>A, XM_011541077.3:c.2319C>A, XM_011541077.2:c.2319C>A, XM_011541077.1:c.2319C>A, XM_047415858.1:c.2574C>A, XM_047415845.1:c.2601C>A, NR_027136.1:n.5815G>T, XM_047415868.1:c.1524C>A

Select item 14845478138.

rs1484547813 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:15117400 (GRCh38)
1:15443896 (GRCh37)
Canonical SPDI:: NC_000001.11:15117399:G:A,NC_000001.11:15117399:G:T
Gene:: KAZN (Varview), TMEM51-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000071/2 (TOMMO)
HGVS:: NC_000001.11:g.15117400G>A, NC_000001.11:g.15117400G>T, NC_000001.10:g.15443896G>A, NC_000001.10:g.15443896G>T, NG_029844.2:g.1229015G>A, NG_029844.2:g.1229015G>T, NM_201628.3:c.*2765G>A, NM_201628.3:c.*2765G>T, NM_201628.2:c.*2765G>A, NM_201628.2:c.*2765G>T, XM_005245795.6:c.*2765G>A, XM_005245795.6:c.*2765G>T, XM_005245795.5:c.*2765G>A, XM_005245795.5:c.*2765G>T, XM_005245795.4:c.*2765G>A, XM_005245795.4:c.*2765G>T, XM_005245795.3:c.*2765G>A, XM_005245795.3:c.*2765G>T, XM_005245795.2:c.*2765G>A, XM_005245795.2:c.*2765G>T, XM_005245795.1:c.*2765G>A, XM_005245795.1:c.*2765G>T, XM_011541074.4:c.*4376G>A, XM_011541074.4:c.*4376G>T, XM_011541074.3:c.*4376G>A, XM_011541074.3:c.*4376G>T, XM_011541074.2:c.*4376G>A, XM_011541074.2:c.*4376G>T, XM_011541075.3:c.*4376G>A, XM_011541075.3:c.*4376G>T, XM_011541075.2:c.*4376G>A, XM_011541075.2:c.*4376G>T, XM_011541076.3:c.*4376G>A, XM_011541076.3:c.*4376G>T, XM_011541076.2:c.*4376G>A, XM_011541076.2:c.*4376G>T, XM_011541077.3:c.*4376G>A, XM_011541077.3:c.*4376G>T, XM_011541077.2:c.*4376G>A, XM_011541077.2:c.*4376G>T, XM_047415858.1:c.*4376G>A, XM_047415858.1:c.*4376G>T, XM_047415845.1:c.*4376G>A, XM_047415845.1:c.*4376G>T, NR_027136.1:n.1394C>T, NR_027136.1:n.1394C>A, XM_047415868.1:c.*4376G>A, XM_047415868.1:c.*4376G>T, NM_182534.1:c.*1101C>T, NM_182534.1:c.*1101C>A

Select item 14836783689.

rs1483678368 has merged into rs58658629 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 1:15112343 (GRCh38)
1:15438839 (GRCh37)
Canonical SPDI:: NC_000001.11:15112329:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGT,NC_000001.11:15112329:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000001.11:15112329:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000001.11:15112329:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000001.11:15112329:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000001.11:15112329:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:15112329:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:15112329:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:15112329:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:15112329:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:15112329:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:15112329:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:15112329:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:15112329:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:15112329:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:15112329:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:15112329:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:15112329:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:15112329:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:15112329:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:15112329:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:15112329:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:15112329:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:15112329:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:15112329:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: KAZN (Varview), TMEM51-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGT=0./0 (ALFA)
TGTG=0.2678/1341 (1000Genomes)
TGTGTGTGTGTGTG=0.4663/1797 (ALSPAC)
TGTGTGTGTGTGTG=0.5/20 (GENOME_DK)
HGVS:: NC_000001.11:g.15112331GT[6], NC_000001.11:g.15112331GT[7], NC_000001.11:g.15112331GT[8], NC_000001.11:g.15112331GT[9], NC_000001.11:g.15112331GT[10], NC_000001.11:g.15112331GT[11], NC_000001.11:g.15112331GT[12], NC_000001.11:g.15112331GT[13], NC_000001.11:g.15112331GT[14], NC_000001.11:g.15112331GT[15], NC_000001.11:g.15112331GT[16], NC_000001.11:g.15112331GT[17], NC_000001.11:g.15112331GT[18], NC_000001.11:g.15112331GT[19], NC_000001.11:g.15112331GT[20], NC_000001.11:g.15112331GT[21], NC_000001.11:g.15112331GT[23], NC_000001.11:g.15112331GT[24], NC_000001.11:g.15112331GT[25], NC_000001.11:g.15112331GT[26], NC_000001.11:g.15112331GT[27], NC_000001.11:g.15112331GT[28], NC_000001.11:g.15112331GT[29], NC_000001.11:g.15112331GT[30], NC_000001.11:g.15112331GT[31], NC_000001.10:g.15438827GT[6], NC_000001.10:g.15438827GT[7], NC_000001.10:g.15438827GT[8], NC_000001.10:g.15438827GT[9], NC_000001.10:g.15438827GT[10], NC_000001.10:g.15438827GT[11], NC_000001.10:g.15438827GT[12], NC_000001.10:g.15438827GT[13], NC_000001.10:g.15438827GT[14], NC_000001.10:g.15438827GT[15], NC_000001.10:g.15438827GT[16], NC_000001.10:g.15438827GT[17], NC_000001.10:g.15438827GT[18], NC_000001.10:g.15438827GT[19], NC_000001.10:g.15438827GT[20], NC_000001.10:g.15438827GT[21], NC_000001.10:g.15438827GT[23], NC_000001.10:g.15438827GT[24], NC_000001.10:g.15438827GT[25], NC_000001.10:g.15438827GT[26], NC_000001.10:g.15438827GT[27], NC_000001.10:g.15438827GT[28], NC_000001.10:g.15438827GT[29], NC_000001.10:g.15438827GT[30], NC_000001.10:g.15438827GT[31], NG_029844.2:g.1223946GT[6], NG_029844.2:g.1223946GT[7], NG_029844.2:g.1223946GT[8], NG_029844.2:g.1223946GT[9], NG_029844.2:g.1223946GT[10], NG_029844.2:g.1223946GT[11], NG_029844.2:g.1223946GT[12], NG_029844.2:g.1223946GT[13], NG_029844.2:g.1223946GT[14], NG_029844.2:g.1223946GT[15], NG_029844.2:g.1223946GT[16], NG_029844.2:g.1223946GT[17], NG_029844.2:g.1223946GT[18], NG_029844.2:g.1223946GT[19], NG_029844.2:g.1223946GT[20], NG_029844.2:g.1223946GT[21], NG_029844.2:g.1223946GT[23], NG_029844.2:g.1223946GT[24], NG_029844.2:g.1223946GT[25], NG_029844.2:g.1223946GT[26], NG_029844.2:g.1223946GT[27], NG_029844.2:g.1223946GT[28], NG_029844.2:g.1223946GT[29], NG_029844.2:g.1223946GT[30], NG_029844.2:g.1223946GT[31], NR_027136.1:n.6421CA[6], NR_027136.1:n.6421CA[7], NR_027136.1:n.6421CA[8], NR_027136.1:n.6421CA[9], NR_027136.1:n.6421CA[10], NR_027136.1:n.6421CA[11], NR_027136.1:n.6421CA[12], NR_027136.1:n.6421CA[13], NR_027136.1:n.6421CA[14], NR_027136.1:n.6421CA[15], NR_027136.1:n.6421CA[16], NR_027136.1:n.6421CA[17], NR_027136.1:n.6421CA[18], NR_027136.1:n.6421CA[19], NR_027136.1:n.6421CA[20], NR_027136.1:n.6421CA[21], NR_027136.1:n.6421CA[23], NR_027136.1:n.6421CA[24], NR_027136.1:n.6421CA[25], NR_027136.1:n.6421CA[26], NR_027136.1:n.6421CA[27], NR_027136.1:n.6421CA[28], NR_027136.1:n.6421CA[29], NR_027136.1:n.6421CA[30], NR_027136.1:n.6421CA[31]

Select item 148272589210.

rs1482725892 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:15117389 (GRCh38)
1:15443885 (GRCh37)
Canonical SPDI:: NC_000001.11:15117388:C:T
Gene:: KAZN (Varview), TMEM51-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.15117389C>T, NC_000001.10:g.15443885C>T, NG_029844.2:g.1229004C>T, NM_201628.3:c.*2754C>T, NM_201628.2:c.*2754C>T, XM_005245795.6:c.*2754C>T, XM_005245795.5:c.*2754C>T, XM_005245795.4:c.*2754C>T, XM_005245795.3:c.*2754C>T, XM_005245795.2:c.*2754C>T, XM_005245795.1:c.*2754C>T, XM_011541074.4:c.*4365C>T, XM_011541074.3:c.*4365C>T, XM_011541074.2:c.*4365C>T, XM_011541075.3:c.*4365C>T, XM_011541075.2:c.*4365C>T, XM_011541076.3:c.*4365C>T, XM_011541076.2:c.*4365C>T, XM_011541077.3:c.*4365C>T, XM_011541077.2:c.*4365C>T, XM_047415858.1:c.*4365C>T, XM_047415845.1:c.*4365C>T, NR_027136.1:n.1405G>A, XM_047415868.1:c.*4365C>T, NM_182534.1:c.*1112G>A

Select item 148194440511.

rs1481944405 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:15118354 (GRCh38)
1:15444850 (GRCh37)
Canonical SPDI:: NC_000001.11:15118353:A:G
Gene:: KAZN (Varview), TMEM51-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.15118354A>G, NC_000001.10:g.15444850A>G, NG_029844.2:g.1229969A>G, NR_027136.1:n.959T>C, NM_182534.1:c.*666T>C

Select item 148064091512.

rs1480640915 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:15114596 (GRCh38)
1:15441092 (GRCh37)
Canonical SPDI:: NC_000001.11:15114595:T:C
Gene:: KAZN (Varview), TMEM51-AS1 (Varview)
Functional Consequence:: synonymous_variant,3_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
HGVS:: NC_000001.11:g.15114596T>C, NC_000001.10:g.15441092T>C, NG_029844.2:g.1226211T>C, NM_201628.3:c.2289T>C, NM_201628.2:c.2289T>C, XM_005245795.6:c.2583T>C, XM_005245795.5:c.2583T>C, XM_005245795.4:c.2583T>C, XM_005245795.3:c.2583T>C, XM_005245795.2:c.2583T>C, XM_005245795.1:c.2583T>C, XM_011541074.4:c.*1572T>C, XM_011541074.3:c.*1572T>C, XM_011541074.2:c.*1572T>C, XM_011541075.3:c.*1572T>C, XM_011541075.2:c.*1572T>C, XM_011541076.3:c.*1572T>C, XM_011541076.2:c.*1572T>C, XM_011541077.3:c.*1572T>C, XM_011541077.2:c.*1572T>C, XM_047415858.1:c.*1572T>C, XM_047415845.1:c.*1572T>C, NR_027136.1:n.4198A>G, XM_047415868.1:c.*1572T>C

Select item 147993052313.

rs1479930523 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:15112483 (GRCh38)
1:15438979 (GRCh37)
Canonical SPDI:: NC_000001.11:15112482:G:A
Gene:: KAZN (Varview), TMEM51-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
HGVS:: NC_000001.11:g.15112483G>A, NC_000001.10:g.15438979G>A, NG_029844.2:g.1224098G>A, NM_201628.3:c.2105G>A, NM_201628.2:c.2105G>A, XM_005245795.6:c.2399G>A, XM_005245795.5:c.2399G>A, XM_005245795.4:c.2399G>A, XM_005245795.3:c.2399G>A, XM_005245795.2:c.2399G>A, XM_005245795.1:c.2399G>A, XM_011541074.4:c.2399G>A, XM_011541074.3:c.2399G>A, XM_011541074.2:c.2399G>A, XM_011541074.1:c.2399G>A, XM_011541075.3:c.2087G>A, XM_011541075.2:c.2087G>A, XM_011541075.1:c.2087G>A, XM_011541076.3:c.1823G>A, XM_011541076.2:c.1823G>A, XM_011541076.1:c.1823G>A, XM_011541077.3:c.1823G>A, XM_011541077.2:c.1823G>A, XM_011541077.1:c.1823G>A, XM_047415858.1:c.2078G>A, XM_047415845.1:c.2105G>A, NR_027136.1:n.6311C>T, XM_047415868.1:c.1028G>A, NP_963922.2:p.Ser702Asn, XP_005245852.1:p.Ser800Asn, XP_011539376.1:p.Ser800Asn, XP_011539377.1:p.Ser696Asn, XP_011539378.1:p.Ser608Asn, XP_011539379.1:p.Ser608Asn, XP_047271814.1:p.Ser693Asn, XP_047271801.1:p.Ser702Asn, XP_047271824.1:p.Ser343Asn

Select item 147979972714.

rs1479799727 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:15116814 (GRCh38)
1:15443310 (GRCh37)
Canonical SPDI:: NC_000001.11:15116813:C:G,NC_000001.11:15116813:C:T
Gene:: KAZN (Varview), TMEM51-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.15116814C>G, NC_000001.11:g.15116814C>T, NC_000001.10:g.15443310C>G, NC_000001.10:g.15443310C>T, NG_029844.2:g.1228429C>G, NG_029844.2:g.1228429C>T, NM_201628.3:c.*2179C>G, NM_201628.3:c.*2179C>T, NM_201628.2:c.*2179C>G, NM_201628.2:c.*2179C>T, XM_005245795.6:c.*2179C>G, XM_005245795.6:c.*2179C>T, XM_005245795.5:c.*2179C>G, XM_005245795.5:c.*2179C>T, XM_005245795.4:c.*2179C>G, XM_005245795.4:c.*2179C>T, XM_005245795.3:c.*2179C>G, XM_005245795.3:c.*2179C>T, XM_005245795.2:c.*2179C>G, XM_005245795.2:c.*2179C>T, XM_005245795.1:c.*2179C>G, XM_005245795.1:c.*2179C>T, XM_011541074.4:c.*3790C>G, XM_011541074.4:c.*3790C>T, XM_011541074.3:c.*3790C>G, XM_011541074.3:c.*3790C>T, XM_011541074.2:c.*3790C>G, XM_011541074.2:c.*3790C>T, XM_011541075.3:c.*3790C>G, XM_011541075.3:c.*3790C>T, XM_011541075.2:c.*3790C>G, XM_011541075.2:c.*3790C>T, XM_011541076.3:c.*3790C>G, XM_011541076.3:c.*3790C>T, XM_011541076.2:c.*3790C>G, XM_011541076.2:c.*3790C>T, XM_011541077.3:c.*3790C>G, XM_011541077.3:c.*3790C>T, XM_011541077.2:c.*3790C>G, XM_011541077.2:c.*3790C>T, XM_047415858.1:c.*3790C>G, XM_047415858.1:c.*3790C>T, XM_047415845.1:c.*3790C>G, XM_047415845.1:c.*3790C>T, NR_027136.1:n.1980G>C, NR_027136.1:n.1980G>A, XM_047415868.1:c.*3790C>G, XM_047415868.1:c.*3790C>T, NM_182534.1:c.*1687G>C, NM_182534.1:c.*1687G>A

Select item 147822214415.

rs1478222144 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:15112342 (GRCh38)
1:15438838 (GRCh37)
Canonical SPDI:: NC_000001.11:15112341:T:A
Gene:: KAZN (Varview), TMEM51-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
HGVS:: NC_000001.11:g.15112342T>A, NC_000001.10:g.15438838T>A, NG_029844.2:g.1223957T>A, NR_027136.1:n.6452A>T

Select item 147758879716.

rs1477588797 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 1:15118762 (GRCh38)
1:15445258 (GRCh37)
Canonical SPDI:: NC_000001.11:15118761:GGGGG:GGGG
Gene:: TMEM51-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: GGGG=0.000071/1 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000019/5 (TOPMED)
HGVS:: NC_000001.11:g.15118766del, NC_000001.10:g.15445262del, NG_029844.2:g.1230381del, NR_027136.1:n.551del, NM_182534.1:c.*258del

Select item 147701997817.

rs1477019978 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:15114303 (GRCh38)
1:15440799 (GRCh37)
Canonical SPDI:: NC_000001.11:15114302:C:T
Gene:: KAZN (Varview), TMEM51-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,3_prime_UTR_variant,genic_downstream_transcript_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_000001.11:g.15114303C>T, NC_000001.10:g.15440799C>T, NG_029844.2:g.1225918C>T, XM_011541074.4:c.*1279C>T, XM_011541074.3:c.*1279C>T, XM_011541074.2:c.*1279C>T, XM_011541075.3:c.*1279C>T, XM_011541075.2:c.*1279C>T, XM_011541076.3:c.*1279C>T, XM_011541076.2:c.*1279C>T, XM_011541077.3:c.*1279C>T, XM_011541077.2:c.*1279C>T, XM_047415858.1:c.*1279C>T, XM_047415845.1:c.*1279C>T, NR_027136.1:n.4491G>A, XM_047415868.1:c.*1279C>T

Select item 147663070218.

rs1476630702 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:15115021 (GRCh38)
1:15441517 (GRCh37)
Canonical SPDI:: NC_000001.11:15115020:A:G
Gene:: KAZN (Varview), TMEM51-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,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_000001.11:g.15115021A>G, NC_000001.10:g.15441517A>G, NG_029844.2:g.1226636A>G, NM_201628.3:c.*386A>G, NM_201628.2:c.*386A>G, XM_005245795.6:c.*386A>G, XM_005245795.5:c.*386A>G, XM_005245795.4:c.*386A>G, XM_005245795.3:c.*386A>G, XM_005245795.2:c.*386A>G, XM_005245795.1:c.*386A>G, XM_011541074.4:c.*1997A>G, XM_011541074.3:c.*1997A>G, XM_011541074.2:c.*1997A>G, XM_011541075.3:c.*1997A>G, XM_011541075.2:c.*1997A>G, XM_011541076.3:c.*1997A>G, XM_011541076.2:c.*1997A>G, XM_011541077.3:c.*1997A>G, XM_011541077.2:c.*1997A>G, XM_047415858.1:c.*1997A>G, XM_047415845.1:c.*1997A>G, NR_027136.1:n.3773T>C, XM_047415868.1:c.*1997A>G

Select item 147648055819.

rs1476480558 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:15112168 (GRCh38)
1:15438664 (GRCh37)
Canonical SPDI:: NC_000001.11:15112167:G:A
Gene:: KAZN (Varview), TMEM51-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.15112168G>A, NC_000001.10:g.15438664G>A, NG_029844.2:g.1223783G>A, NR_027136.1:n.6626C>T

Select item 147636970020.

rs1476369700 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:15113392 (GRCh38)
1:15439888 (GRCh37)
Canonical SPDI:: NC_000001.11:15113391:G:A
Gene:: KAZN (Varview), TMEM51-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.15113392G>A, NC_000001.10:g.15439888G>A, NG_029844.2:g.1225007G>A, XM_011541074.4:c.*368G>A, XM_011541074.3:c.*368G>A, XM_011541074.2:c.*368G>A, XM_011541074.1:c.*368G>A, XM_011541075.3:c.*368G>A, XM_011541075.2:c.*368G>A, XM_011541075.1:c.*368G>A, XM_011541076.3:c.*368G>A, XM_011541076.2:c.*368G>A, XM_011541076.1:c.*368G>A, XM_011541077.3:c.*368G>A, XM_011541077.2:c.*368G>A, XM_011541077.1:c.*368G>A, XM_047415858.1:c.*368G>A, XM_047415845.1:c.*368G>A, NR_027136.1:n.5402C>T, XM_047415868.1:c.*368G>A

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