SNP Links for Nucleotide (Select 432134279) - SNP - NCBI

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Links from Nucleotide

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Select item 14885136551.

rs1488513655 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 18:12662160 (GRCh38)
18:12662159 (GRCh37)
Canonical SPDI:: NC_000018.10:12662159:G:T
Gene:: SPIRE1 (Varview), PSMG2 (Varview), CEP76 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,missense_variant,2KB_upstream_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
HGVS:: NC_000018.10:g.12662160G>T, NC_000018.9:g.12662159G>T, XM_005258149.6:c.1967C>A, XM_005258149.5:c.1967C>A, XM_005258149.4:c.1967C>A, XM_005258149.3:c.1967C>A, XM_005258149.2:c.1967C>A, XM_005258149.1:c.1967C>A, NR_073537.1:n.2191C>A, XM_047437808.1:c.1838C>A, XP_005258206.1:p.Ala656Asp, XP_047293764.1:p.Ala613Asp

Select item 14883559492.

rs1488355949 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:12702668 (GRCh38)
18:12702667 (GRCh37)
Canonical SPDI:: NC_000018.10:12702667:T:C
Gene:: PSMG2 (Varview), CEP76 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000132/2 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000446/2 (Estonian)
HGVS:: NC_000018.10:g.12702668T>C, NC_000018.9:g.12702667T>C, XM_005258149.6:c.-120A>G, XM_005258149.5:c.-120A>G, XM_005258149.4:c.-120A>G, XM_005258149.3:c.-120A>G, XM_005258149.2:c.-120A>G, XM_005258149.1:c.-120A>G, NM_024899.4:c.-120A>G, NM_024899.3:c.-120A>G, XM_017025983.3:c.-120A>G, XM_017025983.2:c.-120A>G, XM_017025983.1:c.-120A>G, NM_001271989.2:c.-120A>G, NM_001271989.1:c.-120A>G, XM_017025981.2:c.-120A>G, XM_017025981.1:c.-120A>G, NR_073537.1:n.110A>G, XM_047437808.1:c.-120A>G

Select item 14863516033.

rs1486351603 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:12662140 (GRCh38)
18:12662139 (GRCh37)
Canonical SPDI:: NC_000018.10:12662139:T:C
Gene:: SPIRE1 (Varview), PSMG2 (Varview), CEP76 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
HGVS:: NC_000018.10:g.12662140T>C, NC_000018.9:g.12662139T>C, XM_005258149.6:c.*13A>G, XM_005258149.5:c.*13A>G, XM_005258149.4:c.*13A>G, XM_005258149.3:c.*13A>G, XM_005258149.2:c.*13A>G, XM_005258149.1:c.*13A>G, NR_073537.1:n.2211A>G, XM_047437808.1:c.*13A>G

Select item 14859334024.

rs1485933402 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 18:12702544 (GRCh38)
18:12702543 (GRCh37)
Canonical SPDI:: NC_000018.10:12702543:G:C,NC_000018.10:12702543:G:T
Gene:: PSMG2 (Varview), CEP76 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,stop_gained,intron_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000018.10:g.12702544G>C, NC_000018.10:g.12702544G>T, NC_000018.9:g.12702543G>C, NC_000018.9:g.12702543G>T, XM_005258149.6:c.5C>G, XM_005258149.6:c.5C>A, XM_005258149.5:c.5C>G, XM_005258149.5:c.5C>A, XM_005258149.4:c.5C>G, XM_005258149.4:c.5C>A, XM_005258149.3:c.5C>G, XM_005258149.3:c.5C>A, XM_005258149.2:c.5C>G, XM_005258149.2:c.5C>A, XM_005258149.1:c.5C>G, XM_005258149.1:c.5C>A, NM_024899.4:c.5C>G, NM_024899.4:c.5C>A, NM_024899.3:c.5C>G, NM_024899.3:c.5C>A, XM_017025983.3:c.5C>G, XM_017025983.3:c.5C>A, XM_017025983.2:c.5C>G, XM_017025983.2:c.5C>A, XM_017025983.1:c.5C>G, XM_017025983.1:c.5C>A, NM_001271989.2:c.5C>G, NM_001271989.2:c.5C>A, NM_001271989.1:c.5C>G, NM_001271989.1:c.5C>A, XM_017025981.2:c.5C>G, XM_017025981.2:c.5C>A, XM_017025981.1:c.5C>G, XM_017025981.1:c.5C>A, NR_073537.1:n.234C>G, NR_073537.1:n.234C>A, XM_047437808.1:c.5C>G, XM_047437808.1:c.5C>A, XP_005258206.1:p.Ser2Trp, XP_005258206.1:p.Ser2Ter, NP_079175.2:p.Ser2Trp, NP_079175.2:p.Ser2Ter, XP_016881472.1:p.Ser2Trp, XP_016881472.1:p.Ser2Ter, NP_001258918.1:p.Ser2Trp, NP_001258918.1:p.Ser2Ter, XP_016881470.1:p.Ser2Trp, XP_016881470.1:p.Ser2Ter, XP_047293764.1:p.Ser2Trp, XP_047293764.1:p.Ser2Ter

Select item 14849421475.

rs1484942147 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:12699121 (GRCh38)
18:12699120 (GRCh37)
Canonical SPDI:: NC_000018.10:12699120:C:T
Gene:: PSMG2 (Varview), CEP76 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.12699121C>T, NC_000018.9:g.12699120C>T, XM_005258149.6:c.378G>A, XM_005258149.5:c.378G>A, XM_005258149.4:c.378G>A, XM_005258149.3:c.378G>A, XM_005258149.2:c.378G>A, XM_005258149.1:c.378G>A, NM_024899.4:c.378G>A, NM_024899.3:c.378G>A, XM_017025983.3:c.378G>A, XM_017025983.2:c.378G>A, XM_017025983.1:c.378G>A, XM_017025982.2:c.315G>A, XM_017025982.1:c.315G>A, XM_017025981.2:c.378G>A, XM_017025981.1:c.378G>A, NR_073537.1:n.602G>A, XM_047437808.1:c.378G>A

Select item 14828465006.

rs1482846500 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:12686274 (GRCh38)
18:12686273 (GRCh37)
Canonical SPDI:: NC_000018.10:12686273:G:A
Gene:: PSMG2 (Varview), CEP76 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.12686274G>A, NC_000018.9:g.12686273G>A, XM_005258149.6:c.1110C>T, XM_005258149.5:c.1110C>T, XM_005258149.4:c.1110C>T, XM_005258149.3:c.1110C>T, XM_005258149.2:c.1110C>T, XM_005258149.1:c.1110C>T, NM_024899.4:c.1110C>T, NM_024899.3:c.1110C>T, XM_017025983.3:c.981C>T, XM_017025983.2:c.981C>T, XM_017025983.1:c.981C>T, XM_017025982.2:c.1047C>T, XM_017025982.1:c.1047C>T, NM_001271989.2:c.885C>T, NM_001271989.1:c.885C>T, XM_017025981.2:c.1110C>T, XM_017025981.1:c.1110C>T, NR_073537.1:n.1334C>T, XM_047437808.1:c.981C>T

Select item 14822015847.

rs1482201584 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 18:12674604 (GRCh38)
18:12674603 (GRCh37)
Canonical SPDI:: NC_000018.10:12674603:G:A,NC_000018.10:12674603:G:T
Gene:: PSMG2 (Varview), CEP76 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,missense_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000018.10:g.12674604G>A, NC_000018.10:g.12674604G>T, NC_000018.9:g.12674603G>A, NC_000018.9:g.12674603G>T, XM_005258149.6:c.1773C>T, XM_005258149.6:c.1773C>A, XM_005258149.5:c.1773C>T, XM_005258149.5:c.1773C>A, XM_005258149.4:c.1773C>T, XM_005258149.4:c.1773C>A, XM_005258149.3:c.1773C>T, XM_005258149.3:c.1773C>A, XM_005258149.2:c.1773C>T, XM_005258149.2:c.1773C>A, XM_005258149.1:c.1773C>T, XM_005258149.1:c.1773C>A, NM_024899.4:c.1773C>T, NM_024899.4:c.1773C>A, NM_024899.3:c.1773C>T, NM_024899.3:c.1773C>A, XM_017025983.3:c.1644C>T, XM_017025983.3:c.1644C>A, XM_017025983.2:c.1644C>T, XM_017025983.2:c.1644C>A, XM_017025983.1:c.1644C>T, XM_017025983.1:c.1644C>A, XM_017025982.2:c.1710C>T, XM_017025982.2:c.1710C>A, XM_017025982.1:c.1710C>T, XM_017025982.1:c.1710C>A, NM_001271989.2:c.1548C>T, NM_001271989.2:c.1548C>A, NM_001271989.1:c.1548C>T, NM_001271989.1:c.1548C>A, XM_017025981.2:c.1773C>T, XM_017025981.2:c.1773C>A, XM_017025981.1:c.1773C>T, XM_017025981.1:c.1773C>A, NR_073537.1:n.1997C>T, NR_073537.1:n.1997C>A, XM_047437808.1:c.1644C>T, XM_047437808.1:c.1644C>A, XP_005258206.1:p.His591Gln, NP_079175.2:p.His591Gln, XP_016881472.1:p.His548Gln, XP_016881471.1:p.His570Gln, NP_001258918.1:p.His516Gln, XP_016881470.1:p.His591Gln, XP_047293764.1:p.His548Gln

Select item 14750863448.

rs1475086344 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:12702696 (GRCh38)
18:12702695 (GRCh37)
Canonical SPDI:: NC_000018.10:12702695:G:A
Gene:: PSMG2 (Varview), CEP76 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000018.10:g.12702696G>A, NC_000018.9:g.12702695G>A, XM_005258149.6:c.-148C>T, XM_005258149.5:c.-148C>T, XM_005258149.4:c.-148C>T, XM_005258149.3:c.-148C>T, XM_005258149.2:c.-148C>T, XM_005258149.1:c.-148C>T, NM_024899.4:c.-148C>T, NM_024899.3:c.-148C>T, XM_017025983.3:c.-148C>T, XM_017025983.2:c.-148C>T, XM_017025983.1:c.-148C>T, NM_001271989.2:c.-148C>T, NM_001271989.1:c.-148C>T, XM_017025981.2:c.-148C>T, XM_017025981.1:c.-148C>T, NR_073537.1:n.82C>T, XM_047437808.1:c.-148C>T

Select item 14744072709.

rs1474407270 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:12700987 (GRCh38)
18:12700986 (GRCh37)
Canonical SPDI:: NC_000018.10:12700986:C:T
Gene:: PSMG2 (Varview), CEP76 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.12700987C>T, NC_000018.9:g.12700986C>T, XM_005258149.6:c.190G>A, XM_005258149.5:c.190G>A, XM_005258149.4:c.190G>A, XM_005258149.3:c.190G>A, XM_005258149.2:c.190G>A, XM_005258149.1:c.190G>A, NM_024899.4:c.190G>A, NM_024899.3:c.190G>A, XM_017025983.3:c.190G>A, XM_017025983.2:c.190G>A, XM_017025983.1:c.190G>A, XM_017025982.2:c.127G>A, XM_017025982.1:c.127G>A, NM_001271989.2:c.190G>A, NM_001271989.1:c.190G>A, XM_017025981.2:c.190G>A, XM_017025981.1:c.190G>A, NR_073537.1:n.419G>A, XM_047437808.1:c.190G>A, XP_005258206.1:p.Asp64Asn, NP_079175.2:p.Asp64Asn, XP_016881472.1:p.Asp64Asn, XP_016881471.1:p.Asp43Asn, NP_001258918.1:p.Asp64Asn, XP_016881470.1:p.Asp64Asn, XP_047293764.1:p.Asp64Asn

Select item 147385891210.

rs1473858912 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:12699111 (GRCh38)
18:12699110 (GRCh37)
Canonical SPDI:: NC_000018.10:12699110:C:T
Gene:: PSMG2 (Varview), CEP76 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.12699111C>T, NC_000018.9:g.12699110C>T, XM_005258149.6:c.388G>A, XM_005258149.5:c.388G>A, XM_005258149.4:c.388G>A, XM_005258149.3:c.388G>A, XM_005258149.2:c.388G>A, XM_005258149.1:c.388G>A, NM_024899.4:c.388G>A, NM_024899.3:c.388G>A, XM_017025983.3:c.388G>A, XM_017025983.2:c.388G>A, XM_017025983.1:c.388G>A, XM_017025982.2:c.325G>A, XM_017025982.1:c.325G>A, XM_017025981.2:c.388G>A, XM_017025981.1:c.388G>A, NR_073537.1:n.612G>A, XM_047437808.1:c.388G>A, XP_005258206.1:p.Gly130Arg, NP_079175.2:p.Gly130Arg, XP_016881472.1:p.Gly130Arg, XP_016881471.1:p.Gly109Arg, XP_016881470.1:p.Gly130Arg, XP_047293764.1:p.Gly130Arg

Select item 147345315711.

rs1473453157 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:12673497 (GRCh38)
18:12673496 (GRCh37)
Canonical SPDI:: NC_000018.10:12673496:A:G
Gene:: PSMG2 (Varview), CEP76 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.12673497A>G, NC_000018.9:g.12673496A>G, XM_005258149.6:c.1848T>C, XM_005258149.5:c.1848T>C, XM_005258149.4:c.1848T>C, XM_005258149.3:c.1848T>C, XM_005258149.2:c.1848T>C, XM_005258149.1:c.1848T>C, NM_024899.4:c.1848T>C, NM_024899.3:c.1848T>C, XM_017025983.3:c.1719T>C, XM_017025983.2:c.1719T>C, XM_017025983.1:c.1719T>C, XM_017025982.2:c.1785T>C, XM_017025982.1:c.1785T>C, NM_001271989.2:c.1623T>C, NM_001271989.1:c.1623T>C, XM_017025981.2:c.1848T>C, XM_017025981.1:c.1848T>C, NR_073537.1:n.2072T>C, XM_047437808.1:c.1719T>C

Select item 147179909412.

rs1471799094 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 18:12680805 (GRCh38)
18:12680804 (GRCh37)
Canonical SPDI:: NC_000018.10:12680804:G:A,NC_000018.10:12680804:G:C
Gene:: PSMG2 (Varview), CEP76 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,missense_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000018.10:g.12680805G>A, NC_000018.10:g.12680805G>C, NC_000018.9:g.12680804G>A, NC_000018.9:g.12680804G>C, XM_005258149.6:c.1146C>T, XM_005258149.6:c.1146C>G, XM_005258149.5:c.1146C>T, XM_005258149.5:c.1146C>G, XM_005258149.4:c.1146C>T, XM_005258149.4:c.1146C>G, XM_005258149.3:c.1146C>T, XM_005258149.3:c.1146C>G, XM_005258149.2:c.1146C>T, XM_005258149.2:c.1146C>G, XM_005258149.1:c.1146C>T, XM_005258149.1:c.1146C>G, NM_024899.4:c.1146C>T, NM_024899.4:c.1146C>G, NM_024899.3:c.1146C>T, NM_024899.3:c.1146C>G, XM_017025983.3:c.1017C>T, XM_017025983.3:c.1017C>G, XM_017025983.2:c.1017C>T, XM_017025983.2:c.1017C>G, XM_017025983.1:c.1017C>T, XM_017025983.1:c.1017C>G, XM_017025982.2:c.1083C>T, XM_017025982.2:c.1083C>G, XM_017025982.1:c.1083C>T, XM_017025982.1:c.1083C>G, NM_001271989.2:c.921C>T, NM_001271989.2:c.921C>G, NM_001271989.1:c.921C>T, NM_001271989.1:c.921C>G, XM_017025981.2:c.1146C>T, XM_017025981.2:c.1146C>G, XM_017025981.1:c.1146C>T, XM_017025981.1:c.1146C>G, NR_073537.1:n.1370C>T, NR_073537.1:n.1370C>G, XM_047437808.1:c.1017C>T, XM_047437808.1:c.1017C>G, XP_005258206.1:p.Asn382Lys, NP_079175.2:p.Asn382Lys, XP_016881472.1:p.Asn339Lys, XP_016881471.1:p.Asn361Lys, NP_001258918.1:p.Asn307Lys, XP_016881470.1:p.Asn382Lys, XP_047293764.1:p.Asn339Lys

Select item 147141704913.

rs1471417049 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 18:12680813 (GRCh38)
18:12680812 (GRCh37)
Canonical SPDI:: NC_000018.10:12680812:G:C
Gene:: PSMG2 (Varview), CEP76 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.12680813G>C, NC_000018.9:g.12680812G>C, XM_005258149.6:c.1138C>G, XM_005258149.5:c.1138C>G, XM_005258149.4:c.1138C>G, XM_005258149.3:c.1138C>G, XM_005258149.2:c.1138C>G, XM_005258149.1:c.1138C>G, NM_024899.4:c.1138C>G, NM_024899.3:c.1138C>G, XM_017025983.3:c.1009C>G, XM_017025983.2:c.1009C>G, XM_017025983.1:c.1009C>G, XM_017025982.2:c.1075C>G, XM_017025982.1:c.1075C>G, NM_001271989.2:c.913C>G, NM_001271989.1:c.913C>G, XM_017025981.2:c.1138C>G, XM_017025981.1:c.1138C>G, NR_073537.1:n.1362C>G, XM_047437808.1:c.1009C>G, XP_005258206.1:p.His380Asp, NP_079175.2:p.His380Asp, XP_016881472.1:p.His337Asp, XP_016881471.1:p.His359Asp, NP_001258918.1:p.His305Asp, XP_016881470.1:p.His380Asp, XP_047293764.1:p.His337Asp

Select item 147103133114.

rs1471031331 has merged into rs758646330 [Homo sapiens]

Variant type:: DELINS
Alleles:: GCTTCTCCCCGCC>-,GCTTCTCCCCGCCGCTTCTCCCCGCC [Show Flanks]
Chromosome:: 18:12702573 (GRCh38)
18:12702572 (GRCh37)
Canonical SPDI:: NC_000018.10:12702562:TCTCCCCGCCGCTTCTCCCCGCC:TCTCCCCGCC,NC_000018.10:12702562:TCTCCCCGCCGCTTCTCCCCGCC:TCTCCCCGCCGCTTCTCCCCGCCGCTTCTCCCCGCC
Gene:: PSMG2 (Varview), CEP76 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTCCCCGCCGCTTCTCCCCGCCGCTTCTCCCCGCC=0./0 (ALFA)
-=0.000034/9 (TOPMED)
-=0.000047/2 (ExAC)
-=0.000048/8 (GnomAD_exomes)
HGVS:: NC_000018.10:g.12702573_12702585del, NC_000018.10:g.12702573_12702585dup, NC_000018.9:g.12702572_12702584del, NC_000018.9:g.12702572_12702584dup, XM_005258149.6:c.-27_-15del, XM_005258149.6:c.-27_-15dup, XM_005258149.5:c.-27_-15del, XM_005258149.5:c.-27_-15dup, XM_005258149.4:c.-27_-15del, XM_005258149.4:c.-27_-15dup, XM_005258149.3:c.-27_-15del, XM_005258149.3:c.-27_-15dup, XM_005258149.2:c.-27_-15del, XM_005258149.2:c.-27_-15dup, XM_005258149.1:c.-27_-15del, XM_005258149.1:c.-27_-15dup, NM_024899.4:c.-27_-15del, NM_024899.4:c.-27_-15dup, NM_024899.3:c.-27_-15del, NM_024899.3:c.-27_-15dup, XM_017025983.3:c.-27_-15del, XM_017025983.3:c.-27_-15dup, XM_017025983.2:c.-27_-15del, XM_017025983.2:c.-27_-15dup, XM_017025983.1:c.-27_-15del, XM_017025983.1:c.-27_-15dup, NM_001271989.2:c.-27_-15del, NM_001271989.2:c.-27_-15dup, NM_001271989.1:c.-27_-15del, NM_001271989.1:c.-27_-15dup, XM_017025981.2:c.-27_-15del, XM_017025981.2:c.-27_-15dup, XM_017025981.1:c.-27_-15del, XM_017025981.1:c.-27_-15dup, NR_073537.1:n.203_215del, NR_073537.1:n.203_215dup, XM_047437808.1:c.-27_-15del, XM_047437808.1:c.-27_-15dup

Select item 146956289115.

rs1469562891 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AGAAATAAT [Show Flanks]
Chromosome:: 18:12691440 (GRCh38)
18:12691440 (GRCh37)
Canonical SPDI:: NC_000018.10:12691440:AGAAATAAT:AGAAATAATAGAAATAAT
Gene:: PSMG2 (Varview), CEP76 (Varview)
Functional Consequence:: inframe_insertion,genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAAATAATAGAAATAAT=0./0 (ALFA)
AGAAATAAT=0.000004/1 (TOPMED)
AGAAATAAT=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.12691441_12691449dup, NC_000018.9:g.12691440_12691448dup, XM_005258149.6:c.843_851dup, XM_005258149.5:c.843_851dup, XM_005258149.4:c.843_851dup, XM_005258149.3:c.843_851dup, XM_005258149.2:c.843_851dup, XM_005258149.1:c.843_851dup, NM_024899.4:c.843_851dup, NM_024899.3:c.843_851dup, XM_017025982.2:c.780_788dup, XM_017025982.1:c.780_788dup, NM_001271989.2:c.618_626dup, NM_001271989.1:c.618_626dup, XM_017025981.2:c.843_851dup, XM_017025981.1:c.843_851dup, NR_073537.1:n.1067_1075dup, XP_005258206.1:p.Leu282_Leu284dup, NP_079175.2:p.Leu282_Leu284dup, XP_016881471.1:p.Leu261_Leu263dup, NP_001258918.1:p.Leu207_Leu209dup, XP_016881470.1:p.Leu282_Leu284dup

Select item 146842672516.

rs1468426725 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 18:12702766 (GRCh38)
18:12702765 (GRCh37)
Canonical SPDI:: NC_000018.10:12702765:C:A,NC_000018.10:12702765:C:T
Gene:: PSMG2 (Varview), CEP76 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000018.10:g.12702766C>A, NC_000018.10:g.12702766C>T, NC_000018.9:g.12702765C>A, NC_000018.9:g.12702765C>T, NM_024899.3:c.-218G>T, NM_024899.3:c.-218G>A, NM_001271989.1:c.-218G>T, NM_001271989.1:c.-218G>A, NR_073537.1:n.12G>T, NR_073537.1:n.12G>A

Select item 146633133717.

rs1466331337 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:12678117 (GRCh38)
18:12678116 (GRCh37)
Canonical SPDI:: NC_000018.10:12678116:G:A
Gene:: PSMG2 (Varview), CEP76 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
A=0.000071/1 (TOMMO)
HGVS:: NC_000018.10:g.12678117G>A, NC_000018.9:g.12678116G>A, XM_005258149.6:c.1615C>T, XM_005258149.5:c.1615C>T, XM_005258149.4:c.1615C>T, XM_005258149.3:c.1615C>T, XM_005258149.2:c.1615C>T, XM_005258149.1:c.1615C>T, NM_024899.4:c.1615C>T, NM_024899.3:c.1615C>T, XM_017025983.3:c.1486C>T, XM_017025983.2:c.1486C>T, XM_017025983.1:c.1486C>T, XM_017025982.2:c.1552C>T, XM_017025982.1:c.1552C>T, NM_001271989.2:c.1390C>T, NM_001271989.1:c.1390C>T, XM_017025981.2:c.1615C>T, XM_017025981.1:c.1615C>T, NR_073537.1:n.1839C>T, XM_047437808.1:c.1486C>T, XP_005258206.1:p.His539Tyr, NP_079175.2:p.His539Tyr, XP_016881472.1:p.His496Tyr, XP_016881471.1:p.His518Tyr, NP_001258918.1:p.His464Tyr, XP_016881470.1:p.His539Tyr, XP_047293764.1:p.His496Tyr

Select item 146467871918.

rs1464678719 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 18:12702559 (GRCh38)
18:12702558 (GRCh37)
Canonical SPDI:: NC_000018.10:12702558:G:A,NC_000018.10:12702558:G:C
Gene:: PSMG2 (Varview), CEP76 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: C=0.0006/1 (Korea1K)
HGVS:: NC_000018.10:g.12702559G>A, NC_000018.10:g.12702559G>C, NC_000018.9:g.12702558G>A, NC_000018.9:g.12702558G>C, XM_005258149.6:c.-11C>T, XM_005258149.6:c.-11C>G, XM_005258149.5:c.-11C>T, XM_005258149.5:c.-11C>G, XM_005258149.4:c.-11C>T, XM_005258149.4:c.-11C>G, XM_005258149.3:c.-11C>T, XM_005258149.3:c.-11C>G, XM_005258149.2:c.-11C>T, XM_005258149.2:c.-11C>G, XM_005258149.1:c.-11C>T, XM_005258149.1:c.-11C>G, NM_024899.4:c.-11C>T, NM_024899.4:c.-11C>G, NM_024899.3:c.-11C>T, NM_024899.3:c.-11C>G, XM_017025983.3:c.-11C>T, XM_017025983.3:c.-11C>G, XM_017025983.2:c.-11C>T, XM_017025983.2:c.-11C>G, XM_017025983.1:c.-11C>T, XM_017025983.1:c.-11C>G, NM_001271989.2:c.-11C>T, NM_001271989.2:c.-11C>G, NM_001271989.1:c.-11C>T, NM_001271989.1:c.-11C>G, XM_017025981.2:c.-11C>T, XM_017025981.2:c.-11C>G, XM_017025981.1:c.-11C>T, XM_017025981.1:c.-11C>G, NR_073537.1:n.219C>T, NR_073537.1:n.219C>G, XM_047437808.1:c.-11C>T, XM_047437808.1:c.-11C>G

Select item 146046187019.

rs1460461870 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 18:12697243 (GRCh38)
18:12697242 (GRCh37)
Canonical SPDI:: NC_000018.10:12697242:G:A,NC_000018.10:12697242:G:C
Gene:: PSMG2 (Varview), CEP76 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
A=0.00006/1 (TOMMO)
HGVS:: NC_000018.10:g.12697243G>A, NC_000018.10:g.12697243G>C, NC_000018.9:g.12697242G>A, NC_000018.9:g.12697242G>C, XM_005258149.6:c.686C>T, XM_005258149.6:c.686C>G, XM_005258149.5:c.686C>T, XM_005258149.5:c.686C>G, XM_005258149.4:c.686C>T, XM_005258149.4:c.686C>G, XM_005258149.3:c.686C>T, XM_005258149.3:c.686C>G, XM_005258149.2:c.686C>T, XM_005258149.2:c.686C>G, XM_005258149.1:c.686C>T, XM_005258149.1:c.686C>G, NM_024899.4:c.686C>T, NM_024899.4:c.686C>G, NM_024899.3:c.686C>T, NM_024899.3:c.686C>G, XM_017025983.3:c.686C>T, XM_017025983.3:c.686C>G, XM_017025983.2:c.686C>T, XM_017025983.2:c.686C>G, XM_017025983.1:c.686C>T, XM_017025983.1:c.686C>G, XM_017025982.2:c.623C>T, XM_017025982.2:c.623C>G, XM_017025982.1:c.623C>T, XM_017025982.1:c.623C>G, NM_001271989.2:c.461C>T, NM_001271989.2:c.461C>G, NM_001271989.1:c.461C>T, NM_001271989.1:c.461C>G, XM_017025981.2:c.686C>T, XM_017025981.2:c.686C>G, XM_017025981.1:c.686C>T, XM_017025981.1:c.686C>G, NR_073537.1:n.910C>T, NR_073537.1:n.910C>G, XM_047437808.1:c.686C>T, XM_047437808.1:c.686C>G, XP_005258206.1:p.Thr229Ile, XP_005258206.1:p.Thr229Ser, NP_079175.2:p.Thr229Ile, NP_079175.2:p.Thr229Ser, XP_016881472.1:p.Thr229Ile, XP_016881472.1:p.Thr229Ser, XP_016881471.1:p.Thr208Ile, XP_016881471.1:p.Thr208Ser, NP_001258918.1:p.Thr154Ile, NP_001258918.1:p.Thr154Ser, XP_016881470.1:p.Thr229Ile, XP_016881470.1:p.Thr229Ser, XP_047293764.1:p.Thr229Ile, XP_047293764.1:p.Thr229Ser

Select item 145989148620.

rs1459891486 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:12691400 (GRCh38)
18:12691399 (GRCh37)
Canonical SPDI:: NC_000018.10:12691399:G:A
Gene:: PSMG2 (Varview), CEP76 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,stop_gained,intron_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.12691400G>A, NC_000018.9:g.12691399G>A, XM_005258149.6:c.892C>T, XM_005258149.5:c.892C>T, XM_005258149.4:c.892C>T, XM_005258149.3:c.892C>T, XM_005258149.2:c.892C>T, XM_005258149.1:c.892C>T, NM_024899.4:c.892C>T, NM_024899.3:c.892C>T, XM_017025982.2:c.829C>T, XM_017025982.1:c.829C>T, NM_001271989.2:c.667C>T, NM_001271989.1:c.667C>T, XM_017025981.2:c.892C>T, XM_017025981.1:c.892C>T, NR_073537.1:n.1116C>T, XP_005258206.1:p.Arg298Ter, NP_079175.2:p.Arg298Ter, XP_016881471.1:p.Arg277Ter, NP_001258918.1:p.Arg223Ter, XP_016881470.1:p.Arg298Ter

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