SNP Links for Nucleotide (Select 327478415) - SNP

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Select item 14913584991.

rs1491358499 has merged into rs373178468 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 5:69555249 (GRCh38)
5:68851076 (GRCh37)
Canonical SPDI:: NC_000005.10:69555236:GTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGT,NC_000005.10:69555236:GTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGT,NC_000005.10:69555236:GTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGT,NC_000005.10:69555236:GTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGT,NC_000005.10:69555236:GTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT,NC_000005.10:69555236:GTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:69555236:GTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:69555236:GTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:69555236:GTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:69555236:GTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:69555236:GTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: OCLN (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGTGT=0./0 (ALFA)
-=0.4668/253 (NorthernSweden)
HGVS:: NC_000005.10:g.69555237GT[6], NC_000005.10:g.69555237GT[7], NC_000005.10:g.69555237GT[8], NC_000005.10:g.69555237GT[9], NC_000005.10:g.69555237GT[10], NC_000005.10:g.69555237GT[11], NC_000005.10:g.69555237GT[13], NC_000005.10:g.69555237GT[14], NC_000005.10:g.69555237GT[15], NC_000005.10:g.69555237GT[16], NC_000005.10:g.69555237GT[17], NC_000005.9:g.68851064GT[6], NC_000005.9:g.68851064GT[7], NC_000005.9:g.68851064GT[8], NC_000005.9:g.68851064GT[9], NC_000005.9:g.68851064GT[10], NC_000005.9:g.68851064GT[11], NC_000005.9:g.68851064GT[13], NC_000005.9:g.68851064GT[14], NC_000005.9:g.68851064GT[15], NC_000005.9:g.68851064GT[16], NC_000005.9:g.68851064GT[17], NG_028291.1:g.67946GT[6], NG_028291.1:g.67946GT[7], NG_028291.1:g.67946GT[8], NG_028291.1:g.67946GT[9], NG_028291.1:g.67946GT[10], NG_028291.1:g.67946GT[11], NG_028291.1:g.67946GT[13], NG_028291.1:g.67946GT[14], NG_028291.1:g.67946GT[15], NG_028291.1:g.67946GT[16], NG_028291.1:g.67946GT[17], NM_002538.4:c.*1566GT[6], NM_002538.4:c.*1566GT[7], NM_002538.4:c.*1566GT[8], NM_002538.4:c.*1566GT[9], NM_002538.4:c.*1566GT[10], NM_002538.4:c.*1566GT[11], NM_002538.4:c.*1566GT[13], NM_002538.4:c.*1566GT[14], NM_002538.4:c.*1566GT[15], NM_002538.4:c.*1566GT[16], NM_002538.4:c.*1566GT[17], NM_002538.3:c.*1566GT[6], NM_002538.3:c.*1566GT[7], NM_002538.3:c.*1566GT[8], NM_002538.3:c.*1566GT[9], NM_002538.3:c.*1566GT[10], NM_002538.3:c.*1566GT[11], NM_002538.3:c.*1566GT[13], NM_002538.3:c.*1566GT[14], NM_002538.3:c.*1566GT[15], NM_002538.3:c.*1566GT[16], NM_002538.3:c.*1566GT[17], NM_001205254.2:c.*1566GT[6], NM_001205254.2:c.*1566GT[7], NM_001205254.2:c.*1566GT[8], NM_001205254.2:c.*1566GT[9], NM_001205254.2:c.*1566GT[10], NM_001205254.2:c.*1566GT[11], NM_001205254.2:c.*1566GT[13], NM_001205254.2:c.*1566GT[14], NM_001205254.2:c.*1566GT[15], NM_001205254.2:c.*1566GT[16], NM_001205254.2:c.*1566GT[17], NM_001205254.1:c.*1566GT[6], NM_001205254.1:c.*1566GT[7], NM_001205254.1:c.*1566GT[8], NM_001205254.1:c.*1566GT[9], NM_001205254.1:c.*1566GT[10], NM_001205254.1:c.*1566GT[11], NM_001205254.1:c.*1566GT[13], NM_001205254.1:c.*1566GT[14], NM_001205254.1:c.*1566GT[15], NM_001205254.1:c.*1566GT[16], NM_001205254.1:c.*1566GT[17], NM_001205255.1:c.*1566GT[6], NM_001205255.1:c.*1566GT[7], NM_001205255.1:c.*1566GT[8], NM_001205255.1:c.*1566GT[9], NM_001205255.1:c.*1566GT[10], NM_001205255.1:c.*1566GT[11], NM_001205255.1:c.*1566GT[13], NM_001205255.1:c.*1566GT[14], NM_001205255.1:c.*1566GT[15], NM_001205255.1:c.*1566GT[16], NM_001205255.1:c.*1566GT[17], NW_003315917.2:g.338180GT[6], NW_003315917.2:g.338180GT[7], NW_003315917.2:g.338180GT[8], NW_003315917.2:g.338180GT[9], NW_003315917.2:g.338180GT[10], NW_003315917.2:g.338180GT[11], NW_003315917.2:g.338180GT[13], NW_003315917.2:g.338180GT[14], NW_003315917.2:g.338180GT[15], NW_003315917.2:g.338180GT[16], NW_003315917.2:g.338180GT[17], NW_025791777.1:g.221953GT[12], NW_025791777.1:g.221953GT[6], NW_025791777.1:g.221953GT[7], NW_025791777.1:g.221953GT[8], NW_025791777.1:g.221953GT[9], NW_025791777.1:g.221953GT[10], NW_025791777.1:g.221953GT[13], NW_025791777.1:g.221953GT[14], NW_025791777.1:g.221953GT[15], NW_025791777.1:g.221953GT[16], NW_025791777.1:g.221953GT[17], XM_017008914.3:c.*1566GT[6], XM_017008914.3:c.*1566GT[7], XM_017008914.3:c.*1566GT[8], XM_017008914.3:c.*1566GT[9], XM_017008914.3:c.*1566GT[10], XM_017008914.3:c.*1566GT[11], XM_017008914.3:c.*1566GT[13], XM_017008914.3:c.*1566GT[14], XM_017008914.3:c.*1566GT[15], XM_017008914.3:c.*1566GT[16], XM_017008914.3:c.*1566GT[17], XM_017008913.3:c.*1566GT[6], XM_017008913.3:c.*1566GT[7], XM_017008913.3:c.*1566GT[8], XM_017008913.3:c.*1566GT[9], XM_017008913.3:c.*1566GT[10], XM_017008913.3:c.*1566GT[11], XM_017008913.3:c.*1566GT[13], XM_017008913.3:c.*1566GT[14], XM_017008913.3:c.*1566GT[15], XM_017008913.3:c.*1566GT[16], XM_017008913.3:c.*1566GT[17], XM_017008913.1:c.*1566GT[6], XM_017008913.1:c.*1566GT[7], XM_017008913.1:c.*1566GT[8], XM_017008913.1:c.*1566GT[9], XM_017008913.1:c.*1566GT[10], XM_017008913.1:c.*1566GT[11], XM_017008913.1:c.*1566GT[13], XM_017008913.1:c.*1566GT[14], XM_017008913.1:c.*1566GT[15], XM_017008913.1:c.*1566GT[16], XM_017008913.1:c.*1566GT[17], XM_047416594.1:c.*1566GT[6], XM_047416594.1:c.*1566GT[7], XM_047416594.1:c.*1566GT[8], XM_047416594.1:c.*1566GT[9], XM_047416594.1:c.*1566GT[10], XM_047416594.1:c.*1566GT[11], XM_047416594.1:c.*1566GT[13], XM_047416594.1:c.*1566GT[14], XM_047416594.1:c.*1566GT[15], XM_047416594.1:c.*1566GT[16], XM_047416594.1:c.*1566GT[17], XM_047416593.1:c.*1566GT[6], XM_047416593.1:c.*1566GT[7], XM_047416593.1:c.*1566GT[8], XM_047416593.1:c.*1566GT[9], XM_047416593.1:c.*1566GT[10], XM_047416593.1:c.*1566GT[11], XM_047416593.1:c.*1566GT[13], XM_047416593.1:c.*1566GT[14], XM_047416593.1:c.*1566GT[15], XM_047416593.1:c.*1566GT[16], XM_047416593.1:c.*1566GT[17], NM_001410743.1:c.*1566GT[6], NM_001410743.1:c.*1566GT[7], NM_001410743.1:c.*1566GT[8], NM_001410743.1:c.*1566GT[9], NM_001410743.1:c.*1566GT[10], NM_001410743.1:c.*1566GT[11], NM_001410743.1:c.*1566GT[13], NM_001410743.1:c.*1566GT[14], NM_001410743.1:c.*1566GT[15], NM_001410743.1:c.*1566GT[16], NM_001410743.1:c.*1566GT[17]

Select item 14911540702.

rs1491154070 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 5:69555236 (GRCh38)
5:68851063 (GRCh37)
Canonical SPDI:: NC_000005.10:69555235:AG:
Gene:: OCLN (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00072/12 (TOMMO)
HGVS:: NC_000005.10:g.69555236_69555237del, NC_000005.9:g.68851063_68851064del, NG_028291.1:g.67945_67946del, NM_002538.4:c.*1565_*1566del, NM_002538.3:c.*1565_*1566del, NM_001205254.2:c.*1565_*1566del, NM_001205254.1:c.*1565_*1566del, NM_001205255.1:c.*1565_*1566del, NW_003315917.2:g.338179_338180del, NW_025791777.1:g.221953dup, NW_025791777.1:g.221952del, XM_017008914.3:c.*1565_*1566del, XM_017008913.3:c.*1565_*1566del, XM_017008913.1:c.*1565_*1566del, XM_047416594.1:c.*1565_*1566del, XM_047416593.1:c.*1565_*1566del, NM_001410743.1:c.*1565_*1566del

Select item 14908773643.

rs1490877364 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 5:69555697 (GRCh38)
5:68851524 (GRCh37)
Canonical SPDI:: NC_000005.10:69555696:G:A,NC_000005.10:69555696:G:T
Gene:: OCLN (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000005.10:g.69555697G>A, NC_000005.10:g.69555697G>T, NC_000005.9:g.68851524G>A, NC_000005.9:g.68851524G>T, NG_028291.1:g.68406G>A, NG_028291.1:g.68406G>T, NM_002538.4:c.*2026G>A, NM_002538.4:c.*2026G>T, NM_002538.3:c.*2026G>A, NM_002538.3:c.*2026G>T, NM_001205254.2:c.*2026G>A, NM_001205254.2:c.*2026G>T, NM_001205254.1:c.*2026G>A, NM_001205254.1:c.*2026G>T, NM_001205255.1:c.*2026G>A, NM_001205255.1:c.*2026G>T, NW_003315917.2:g.338644G>A, NW_003315917.2:g.338644G>T, NW_025791777.1:g.222411G>A, NW_025791777.1:g.222411G>T, XM_017008914.3:c.*2026G>A, XM_017008914.3:c.*2026G>T, XM_017008913.3:c.*2026G>A, XM_017008913.3:c.*2026G>T, XM_017008913.1:c.*2026G>A, XM_017008913.1:c.*2026G>T, XM_047416594.1:c.*2026G>A, XM_047416594.1:c.*2026G>T, XM_047416593.1:c.*2026G>A, XM_047416593.1:c.*2026G>T, NM_001410743.1:c.*2026G>A, NM_001410743.1:c.*2026G>T

Select item 14906470804.

rs1490647080 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 5:69548024 (GRCh38)
5:68843851 (GRCh37)
Canonical SPDI:: NC_000005.10:69548023:C:A,NC_000005.10:69548023:C:T
Gene:: OCLN (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000005.10:g.69548024C>A, NC_000005.10:g.69548024C>T, NC_000005.9:g.68843851C>A, NC_000005.9:g.68843851C>T, NG_028291.1:g.60733C>A, NG_028291.1:g.60733C>T, NM_002538.4:c.1348C>A, NM_002538.4:c.1348C>T, NM_002538.3:c.1348C>A, NM_002538.3:c.1348C>T, NM_001205254.2:c.1348C>A, NM_001205254.2:c.1348C>T, NM_001205254.1:c.1348C>A, NM_001205254.1:c.1348C>T, NM_001205255.1:c.595C>A, NM_001205255.1:c.595C>T, NW_003315917.2:g.330966C>A, NW_003315917.2:g.330966C>T, NW_025791777.1:g.214737C>A, NW_025791777.1:g.214737C>T, XM_017008914.3:c.1186C>A, XM_017008914.3:c.1186C>T, XM_017008913.3:c.1186C>A, XM_017008913.3:c.1186C>T, XM_017008913.2:c.1186C>A, XM_017008913.2:c.1186C>T, XM_017008913.1:c.1186C>A, XM_017008913.1:c.1186C>T, XM_047416594.1:c.1348C>A, XM_047416594.1:c.1348C>T, XM_047416593.1:c.1348C>A, XM_047416593.1:c.1348C>T, NM_001410743.1:c.1186C>A, NM_001410743.1:c.1186C>T, NR_026578.1:n.335C>A, NR_026578.1:n.335C>T, NP_002529.1:p.Leu450Ile, NP_002529.1:p.Leu450Phe, NP_001192183.1:p.Leu450Ile, NP_001192183.1:p.Leu450Phe, NP_001192184.1:p.Leu199Ile, NP_001192184.1:p.Leu199Phe, XP_016864403.1:p.Leu396Ile, XP_016864403.1:p.Leu396Phe, XP_016864402.1:p.Leu396Ile, XP_016864402.1:p.Leu396Phe, XP_047272550.1:p.Leu450Ile, XP_047272550.1:p.Leu450Phe, XP_047272549.1:p.Leu450Ile, XP_047272549.1:p.Leu450Phe

Select item 14899135285.

rs1489913528 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 5:69555498 (GRCh38)
5:68851325 (GRCh37)
Canonical SPDI:: NC_000005.10:69555497:A:T
Gene:: OCLN (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000031/4 (GnomAD)
HGVS:: NC_000005.10:g.69555498A>T, NC_000005.9:g.68851325A>T, NG_028291.1:g.68207A>T, NM_002538.4:c.*1827A>T, NM_002538.3:c.*1827A>T, NM_001205254.2:c.*1827A>T, NM_001205254.1:c.*1827A>T, NM_001205255.1:c.*1827A>T, NW_003315917.2:g.338445A>T, NW_025791777.1:g.222212A>T, XM_017008914.3:c.*1827A>T, XM_017008913.3:c.*1827A>T, XM_017008913.1:c.*1827A>T, XM_047416594.1:c.*1827A>T, XM_047416593.1:c.*1827A>T, NM_001410743.1:c.*1827A>T

Select item 14885933966.

rs1488593396 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:69557661 (GRCh38)
5:68853488 (GRCh37)
Canonical SPDI:: NC_000005.10:69557660:T:C
Gene:: OCLN (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000005.10:g.69557661T>C, NC_000005.9:g.68853488T>C, NG_028291.1:g.70370T>C, NM_002538.4:c.*3990T>C, NM_002538.3:c.*3990T>C, NM_001205254.2:c.*3990T>C, NM_001205254.1:c.*3990T>C, NM_001205255.1:c.*3990T>C, NW_003315917.2:g.340609T>C, NW_025791777.1:g.224376T>C, XM_017008914.3:c.*3990T>C, XM_017008913.3:c.*3990T>C, XM_017008913.1:c.*3990T>C, XM_047416594.1:c.*3990T>C, XM_047416593.1:c.*3990T>C, NM_001410743.1:c.*3990T>C

Select item 14877707957.

rs1487770795 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:69553616 (GRCh38)
5:68849443 (GRCh37)
Canonical SPDI:: NC_000005.10:69553615:G:A
Gene:: OCLN (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.69553616G>A, NC_000005.9:g.68849443G>A, NG_028291.1:g.66325G>A, NM_002538.4:c.1514G>A, NM_002538.3:c.1514G>A, NM_001205254.2:c.1514G>A, NM_001205254.1:c.1514G>A, NM_001205255.1:c.761G>A, NW_003315917.2:g.336561G>A, NW_025791777.1:g.220331G>A, XM_017008914.3:c.1352G>A, XM_017008913.3:c.1352G>A, XM_017008913.2:c.1352G>A, XM_017008913.1:c.1352G>A, XM_047416594.1:c.1514G>A, XM_047416593.1:c.1514G>A, NM_001410743.1:c.1352G>A, NR_026578.1:n.501G>A, NP_002529.1:p.Ser505Asn, NP_001192183.1:p.Ser505Asn, NP_001192184.1:p.Ser254Asn, XP_016864403.1:p.Ser451Asn, XP_016864402.1:p.Ser451Asn, XP_047272550.1:p.Ser505Asn, XP_047272549.1:p.Ser505Asn

Select item 14875848138.

rs1487584813 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 5:69554428 (GRCh38)
5:68850255 (GRCh37)
Canonical SPDI:: NC_000005.10:69554427:A:T
Gene:: OCLN (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.00012/2 (TOMMO)
HGVS:: NC_000005.10:g.69554428A>T, NC_000005.9:g.68850255A>T, NG_028291.1:g.67137A>T, NM_002538.4:c.*757A>T, NM_002538.3:c.*757A>T, NM_001205254.2:c.*757A>T, NM_001205254.1:c.*757A>T, NM_001205255.1:c.*757A>T, NW_003315917.2:g.337371T>A, NW_025791777.1:g.221143A>T, XM_017008914.3:c.*757A>T, XM_017008913.3:c.*757A>T, XM_017008913.2:c.*757A>T, XM_017008913.1:c.*757A>T, XM_047416593.1:c.*757A>T, NM_001410743.1:c.*757A>T, XM_047416594.1:c.*757A>T

Select item 14870210409.

rs1487021040 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:69554636 (GRCh38)
5:68850463 (GRCh37)
Canonical SPDI:: NC_000005.10:69554635:T:C
Gene:: OCLN (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000054/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
C=0.000672/11 (TOMMO)
HGVS:: NC_000005.10:g.69554636T>C, NC_000005.9:g.68850463T>C, NG_028291.1:g.67345T>C, NM_002538.4:c.*965T>C, NM_002538.3:c.*965T>C, NM_001205254.2:c.*965T>C, NM_001205254.1:c.*965T>C, NM_001205255.1:c.*965T>C, NW_003315917.2:g.337579T>C, NW_025791777.1:g.221351T>C, XM_017008914.3:c.*965T>C, XM_017008913.3:c.*965T>C, XM_017008913.1:c.*965T>C, XM_047416594.1:c.*965T>C, XM_047416593.1:c.*965T>C, NM_001410743.1:c.*965T>C

Select item 148700375310.

rs1487003753 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 5:69547937 (GRCh38)
5:68843764 (GRCh37)
Canonical SPDI:: NC_000005.10:69547936:C:A
Gene:: OCLN (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.69547937C>A, NC_000005.9:g.68843764C>A, NG_028291.1:g.60646C>A, NM_002538.4:c.1261C>A, NM_002538.3:c.1261C>A, NM_001205254.2:c.1261C>A, NM_001205254.1:c.1261C>A, NM_001205255.1:c.508C>A, NW_003315917.2:g.330879C>A, NW_025791777.1:g.214650C>A, XM_017008914.3:c.1099C>A, XM_017008913.3:c.1099C>A, XM_017008913.2:c.1099C>A, XM_017008913.1:c.1099C>A, XM_047416594.1:c.1261C>A, XM_047416593.1:c.1261C>A, NM_001410743.1:c.1099C>A, NR_026578.1:n.248C>A, NP_002529.1:p.Pro421Thr, NP_001192183.1:p.Pro421Thr, NP_001192184.1:p.Pro170Thr, XP_016864403.1:p.Pro367Thr, XP_016864402.1:p.Pro367Thr, XP_047272550.1:p.Pro421Thr, XP_047272549.1:p.Pro421Thr

Select item 148661316211.

rs1486613162 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:69555383 (GRCh38)
5:68851210 (GRCh37)
Canonical SPDI:: NC_000005.10:69555382:C:T
Gene:: OCLN (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000022/3 (GnomAD)
HGVS:: NC_000005.10:g.69555383C>T, NC_000005.9:g.68851210C>T, NG_028291.1:g.68092C>T, NM_002538.4:c.*1712C>T, NM_002538.3:c.*1712C>T, NM_001205254.2:c.*1712C>T, NM_001205254.1:c.*1712C>T, NM_001205255.1:c.*1712C>T, NW_003315917.2:g.338331C>T, NW_025791777.1:g.222097C>T, XM_017008914.3:c.*1712C>T, XM_017008913.3:c.*1712C>T, XM_017008913.1:c.*1712C>T, XM_047416594.1:c.*1712C>T, XM_047416593.1:c.*1712C>T, NM_001410743.1:c.*1712C>T

Select item 148469095512.

rs1484690955 has merged into rs373178468 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 5:69555249 (GRCh38)
5:68851076 (GRCh37)
Canonical SPDI:: NC_000005.10:69555236:GTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGT,NC_000005.10:69555236:GTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGT,NC_000005.10:69555236:GTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGT,NC_000005.10:69555236:GTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGT,NC_000005.10:69555236:GTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT,NC_000005.10:69555236:GTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:69555236:GTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:69555236:GTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:69555236:GTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:69555236:GTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:69555236:GTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: OCLN (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGTGT=0./0 (ALFA)
-=0.4668/253 (NorthernSweden)
HGVS:: NC_000005.10:g.69555237GT[6], NC_000005.10:g.69555237GT[7], NC_000005.10:g.69555237GT[8], NC_000005.10:g.69555237GT[9], NC_000005.10:g.69555237GT[10], NC_000005.10:g.69555237GT[11], NC_000005.10:g.69555237GT[13], NC_000005.10:g.69555237GT[14], NC_000005.10:g.69555237GT[15], NC_000005.10:g.69555237GT[16], NC_000005.10:g.69555237GT[17], NC_000005.9:g.68851064GT[6], NC_000005.9:g.68851064GT[7], NC_000005.9:g.68851064GT[8], NC_000005.9:g.68851064GT[9], NC_000005.9:g.68851064GT[10], NC_000005.9:g.68851064GT[11], NC_000005.9:g.68851064GT[13], NC_000005.9:g.68851064GT[14], NC_000005.9:g.68851064GT[15], NC_000005.9:g.68851064GT[16], NC_000005.9:g.68851064GT[17], NG_028291.1:g.67946GT[6], NG_028291.1:g.67946GT[7], NG_028291.1:g.67946GT[8], NG_028291.1:g.67946GT[9], NG_028291.1:g.67946GT[10], NG_028291.1:g.67946GT[11], NG_028291.1:g.67946GT[13], NG_028291.1:g.67946GT[14], NG_028291.1:g.67946GT[15], NG_028291.1:g.67946GT[16], NG_028291.1:g.67946GT[17], NM_002538.4:c.*1566GT[6], NM_002538.4:c.*1566GT[7], NM_002538.4:c.*1566GT[8], NM_002538.4:c.*1566GT[9], NM_002538.4:c.*1566GT[10], NM_002538.4:c.*1566GT[11], NM_002538.4:c.*1566GT[13], NM_002538.4:c.*1566GT[14], NM_002538.4:c.*1566GT[15], NM_002538.4:c.*1566GT[16], NM_002538.4:c.*1566GT[17], NM_002538.3:c.*1566GT[6], NM_002538.3:c.*1566GT[7], NM_002538.3:c.*1566GT[8], NM_002538.3:c.*1566GT[9], NM_002538.3:c.*1566GT[10], NM_002538.3:c.*1566GT[11], NM_002538.3:c.*1566GT[13], NM_002538.3:c.*1566GT[14], NM_002538.3:c.*1566GT[15], NM_002538.3:c.*1566GT[16], NM_002538.3:c.*1566GT[17], NM_001205254.2:c.*1566GT[6], NM_001205254.2:c.*1566GT[7], NM_001205254.2:c.*1566GT[8], NM_001205254.2:c.*1566GT[9], NM_001205254.2:c.*1566GT[10], NM_001205254.2:c.*1566GT[11], NM_001205254.2:c.*1566GT[13], NM_001205254.2:c.*1566GT[14], NM_001205254.2:c.*1566GT[15], NM_001205254.2:c.*1566GT[16], NM_001205254.2:c.*1566GT[17], NM_001205254.1:c.*1566GT[6], NM_001205254.1:c.*1566GT[7], NM_001205254.1:c.*1566GT[8], NM_001205254.1:c.*1566GT[9], NM_001205254.1:c.*1566GT[10], NM_001205254.1:c.*1566GT[11], NM_001205254.1:c.*1566GT[13], NM_001205254.1:c.*1566GT[14], NM_001205254.1:c.*1566GT[15], NM_001205254.1:c.*1566GT[16], NM_001205254.1:c.*1566GT[17], NM_001205255.1:c.*1566GT[6], NM_001205255.1:c.*1566GT[7], NM_001205255.1:c.*1566GT[8], NM_001205255.1:c.*1566GT[9], NM_001205255.1:c.*1566GT[10], NM_001205255.1:c.*1566GT[11], NM_001205255.1:c.*1566GT[13], NM_001205255.1:c.*1566GT[14], NM_001205255.1:c.*1566GT[15], NM_001205255.1:c.*1566GT[16], NM_001205255.1:c.*1566GT[17], NW_003315917.2:g.338180GT[6], NW_003315917.2:g.338180GT[7], NW_003315917.2:g.338180GT[8], NW_003315917.2:g.338180GT[9], NW_003315917.2:g.338180GT[10], NW_003315917.2:g.338180GT[11], NW_003315917.2:g.338180GT[13], NW_003315917.2:g.338180GT[14], NW_003315917.2:g.338180GT[15], NW_003315917.2:g.338180GT[16], NW_003315917.2:g.338180GT[17], NW_025791777.1:g.221953GT[12], NW_025791777.1:g.221953GT[6], NW_025791777.1:g.221953GT[7], NW_025791777.1:g.221953GT[8], NW_025791777.1:g.221953GT[9], NW_025791777.1:g.221953GT[10], NW_025791777.1:g.221953GT[13], NW_025791777.1:g.221953GT[14], NW_025791777.1:g.221953GT[15], NW_025791777.1:g.221953GT[16], NW_025791777.1:g.221953GT[17], XM_017008914.3:c.*1566GT[6], XM_017008914.3:c.*1566GT[7], XM_017008914.3:c.*1566GT[8], XM_017008914.3:c.*1566GT[9], XM_017008914.3:c.*1566GT[10], XM_017008914.3:c.*1566GT[11], XM_017008914.3:c.*1566GT[13], XM_017008914.3:c.*1566GT[14], XM_017008914.3:c.*1566GT[15], XM_017008914.3:c.*1566GT[16], XM_017008914.3:c.*1566GT[17], XM_017008913.3:c.*1566GT[6], XM_017008913.3:c.*1566GT[7], XM_017008913.3:c.*1566GT[8], XM_017008913.3:c.*1566GT[9], XM_017008913.3:c.*1566GT[10], XM_017008913.3:c.*1566GT[11], XM_017008913.3:c.*1566GT[13], XM_017008913.3:c.*1566GT[14], XM_017008913.3:c.*1566GT[15], XM_017008913.3:c.*1566GT[16], XM_017008913.3:c.*1566GT[17], XM_017008913.1:c.*1566GT[6], XM_017008913.1:c.*1566GT[7], XM_017008913.1:c.*1566GT[8], XM_017008913.1:c.*1566GT[9], XM_017008913.1:c.*1566GT[10], XM_017008913.1:c.*1566GT[11], XM_017008913.1:c.*1566GT[13], XM_017008913.1:c.*1566GT[14], XM_017008913.1:c.*1566GT[15], XM_017008913.1:c.*1566GT[16], XM_017008913.1:c.*1566GT[17], XM_047416594.1:c.*1566GT[6], XM_047416594.1:c.*1566GT[7], XM_047416594.1:c.*1566GT[8], XM_047416594.1:c.*1566GT[9], XM_047416594.1:c.*1566GT[10], XM_047416594.1:c.*1566GT[11], XM_047416594.1:c.*1566GT[13], XM_047416594.1:c.*1566GT[14], XM_047416594.1:c.*1566GT[15], XM_047416594.1:c.*1566GT[16], XM_047416594.1:c.*1566GT[17], XM_047416593.1:c.*1566GT[6], XM_047416593.1:c.*1566GT[7], XM_047416593.1:c.*1566GT[8], XM_047416593.1:c.*1566GT[9], XM_047416593.1:c.*1566GT[10], XM_047416593.1:c.*1566GT[11], XM_047416593.1:c.*1566GT[13], XM_047416593.1:c.*1566GT[14], XM_047416593.1:c.*1566GT[15], XM_047416593.1:c.*1566GT[16], XM_047416593.1:c.*1566GT[17], NM_001410743.1:c.*1566GT[6], NM_001410743.1:c.*1566GT[7], NM_001410743.1:c.*1566GT[8], NM_001410743.1:c.*1566GT[9], NM_001410743.1:c.*1566GT[10], NM_001410743.1:c.*1566GT[11], NM_001410743.1:c.*1566GT[13], NM_001410743.1:c.*1566GT[14], NM_001410743.1:c.*1566GT[15], NM_001410743.1:c.*1566GT[16], NM_001410743.1:c.*1566GT[17]

Select item 148411675313.

rs1484116753 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATT>- [Show Flanks]
Chromosome:: 5:69555261 (GRCh38)
5:68851088 (GRCh37)
Canonical SPDI:: NC_000005.10:69555259:TATT:T
Gene:: OCLN (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0.00008/1 (ALFA)
-=0.00002/1 (GnomAD)
HGVS:: NC_000005.10:g.69555261_69555263del, NC_000005.9:g.68851088_68851090del, NG_028291.1:g.67970_67972del, NM_002538.4:c.*1590_*1592del, NM_002538.3:c.*1590_*1592del, NM_001205254.2:c.*1590_*1592del, NM_001205254.1:c.*1590_*1592del, NM_001205255.1:c.*1590_*1592del, NW_025791777.1:g.221975_221977del, XM_017008914.3:c.*1590_*1592del, XM_017008913.3:c.*1590_*1592del, XM_017008913.1:c.*1590_*1592del, XM_047416594.1:c.*1590_*1592del, XM_047416593.1:c.*1590_*1592del, NM_001410743.1:c.*1590_*1592del

Select item 148391622514.

rs1483916225 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:69545002 (GRCh38)
5:68840829 (GRCh37)
Canonical SPDI:: NC_000005.10:69545001:A:G
Gene:: OCLN (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.69545002A>G, NC_000005.9:g.68840829A>G, NG_028291.1:g.57711A>G, NM_002538.4:c.1136A>G, NM_002538.3:c.1136A>G, NM_001205254.2:c.1136A>G, NM_001205254.1:c.1136A>G, NM_001205255.1:c.383A>G, NW_003315917.2:g.327946A>G, NW_025791777.1:g.211714A>G, XM_017008914.3:c.974A>G, XM_017008913.3:c.974A>G, XM_017008913.2:c.974A>G, XM_017008913.1:c.974A>G, XM_047416594.1:c.1136A>G, XM_047416593.1:c.1136A>G, NM_001410743.1:c.974A>G, NR_026578.1:n.123A>G, NP_002529.1:p.Lys379Arg, NP_001192183.1:p.Lys379Arg, NP_001192184.1:p.Lys128Arg, XP_016864403.1:p.Lys325Arg, XP_016864402.1:p.Lys325Arg, XP_047272550.1:p.Lys379Arg, XP_047272549.1:p.Lys379Arg

Select item 148282552615.

rs1482825526 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:69514014 (GRCh38)
5:68809841 (GRCh37)
Canonical SPDI:: NC_000005.10:69514013:A:G
Gene:: OCLN (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.69514014A>G, NC_000005.9:g.68809841A>G, NG_028291.1:g.26723A>G, NM_002538.4:c.796A>G, NM_002538.3:c.796A>G, NM_001205254.2:c.796A>G, NM_001205254.1:c.796A>G, NM_001205255.1:c.43A>G, NW_003315917.2:g.296914A>G, NW_025791777.1:g.180580A>G, XM_047416594.1:c.796A>G, XM_047416593.1:c.796A>G, NP_002529.1:p.Lys266Glu, NP_001192183.1:p.Lys266Glu, NP_001192184.1:p.Lys15Glu, XP_047272550.1:p.Lys266Glu, XP_047272549.1:p.Lys266Glu

Select item 148203185116.

rs1482031851 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTT>- [Show Flanks]
Chromosome:: 5:69554645 (GRCh38)
5:68850472 (GRCh37)
Canonical SPDI:: NC_000005.10:69554637:TGTTGTTGTT:TGTTGTT
Gene:: OCLN (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTTGTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.69554639GTT[2], NC_000005.9:g.68850466GTT[2], NG_028291.1:g.67348GTT[2], NM_002538.4:c.*968GTT[2], NM_002538.3:c.*968GTT[2], NM_001205254.2:c.*968GTT[2], NM_001205254.1:c.*968GTT[2], NM_001205255.1:c.*968GTT[2], NW_003315917.2:g.337582GTT[2], NW_025791777.1:g.221354GTT[2], XM_017008914.3:c.*968GTT[2], XM_017008913.3:c.*968GTT[2], XM_017008913.1:c.*968GTT[2], XM_047416594.1:c.*968GTT[2], XM_047416593.1:c.*968GTT[2], NM_001410743.1:c.*968GTT[2]

Select item 148187405317.

rs1481874053 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:69557150 (GRCh38)
5:68852977 (GRCh37)
Canonical SPDI:: NC_000005.10:69557149:G:T
Gene:: OCLN (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.00003/2 (GnomAD)
HGVS:: NC_000005.10:g.69557150G>T, NC_000005.9:g.68852977G>T, NG_028291.1:g.69859G>T, NM_002538.4:c.*3479G>T, NM_002538.3:c.*3479G>T, NM_001205254.2:c.*3479G>T, NM_001205254.1:c.*3479G>T, NM_001205255.1:c.*3479G>T, NW_003315917.2:g.340097G>T, NW_025791777.1:g.223864G>T, XM_017008914.3:c.*3479G>T, XM_017008913.3:c.*3479G>T, XM_017008913.1:c.*3479G>T, XM_047416594.1:c.*3479G>T, XM_047416593.1:c.*3479G>T, NM_001410743.1:c.*3479G>T

Select item 148184266018.

rs1481842660 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:69544940 (GRCh38)
5:68840767 (GRCh37)
Canonical SPDI:: NC_000005.10:69544939:G:A
Gene:: OCLN (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00006/5 (GnomAD)
HGVS:: NC_000005.10:g.69544940G>A, NC_000005.9:g.68840767G>A, NG_028291.1:g.57649G>A, NM_002538.4:c.1074G>A, NM_002538.3:c.1074G>A, NM_001205254.2:c.1074G>A, NM_001205254.1:c.1074G>A, NM_001205255.1:c.321G>A, NW_003315917.2:g.327884G>A, NW_025791777.1:g.211652G>A, XM_017008914.3:c.912G>A, XM_017008913.3:c.912G>A, XM_017008913.2:c.912G>A, XM_017008913.1:c.912G>A, XM_047416594.1:c.1074G>A, XM_047416593.1:c.1074G>A, NM_001410743.1:c.912G>A, NR_026578.1:n.61G>A

Select item 148181847519.

rs1481818475 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:69554844 (GRCh38)
5:68850671 (GRCh37)
Canonical SPDI:: NC_000005.10:69554843:A:G
Gene:: OCLN (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.69554844A>G, NC_000005.9:g.68850671A>G, NG_028291.1:g.67553A>G, NM_002538.4:c.*1173A>G, NM_002538.3:c.*1173A>G, NM_001205254.2:c.*1173A>G, NM_001205254.1:c.*1173A>G, NM_001205255.1:c.*1173A>G, NW_003315917.2:g.337787A>G, NW_025791777.1:g.221559A>G, XM_017008914.3:c.*1173A>G, XM_017008913.3:c.*1173A>G, XM_017008913.1:c.*1173A>G, XM_047416594.1:c.*1173A>G, XM_047416593.1:c.*1173A>G, NM_001410743.1:c.*1173A>G

Select item 148170688920.

rs1481706889 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:69555530 (GRCh38)
5:68851357 (GRCh37)
Canonical SPDI:: NC_000005.10:69555529:A:G
Gene:: OCLN (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000023/6 (TOPMED)
G=0.000035/1 (TOMMO)
A=0.5/1 (SGDP_PRJ)
HGVS:: NC_000005.10:g.69555530A>G, NC_000005.9:g.68851357A>G, NG_028291.1:g.68239A>G, NM_002538.4:c.*1859A>G, NM_002538.3:c.*1859A>G, NM_001205254.2:c.*1859A>G, NM_001205254.1:c.*1859A>G, NM_001205255.1:c.*1859A>G, NW_003315917.2:g.338477A>G, NW_025791777.1:g.222244A>G, XM_017008914.3:c.*1859A>G, XM_017008913.3:c.*1859A>G, XM_017008913.1:c.*1859A>G, XM_047416594.1:c.*1859A>G, XM_047416593.1:c.*1859A>G, NM_001410743.1:c.*1859A>G

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