SNP Links for Gene (Select 64866) - SNP

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Select item 14915701601.

rs1491570160 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 3:45132591 (GRCh38)
3:45174083 (GRCh37)
Canonical SPDI:: NC_000003.12:45132590:CT:
Gene:: CDCP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.0415/154 (TWINSUK)
-=0.0433/167 (ALSPAC)
HGVS:: NC_000003.12:g.45132591_45132592del, NC_000003.11:g.45174083_45174084del

Select item 14915554292.

rs1491555429 has merged into rs57366030 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTTC,CTTCCTTC,CTTCTTTCCTTC,CTTCTTTCTTTCCTTC,CTTCTTTCTTTCTTTCCTTC [Show Flanks]
Chromosome:: 3:45126115 (GRCh38)
3:45167608 (GRCh37)
Canonical SPDI:: NC_000003.12:45126115:TTC:TTCCTTC,NC_000003.12:45126115:TTC:TTCCTTCCTTC,NC_000003.12:45126115:TTC:TTCCTTCTTTCCTTC,NC_000003.12:45126115:TTC:TTCCTTCTTTCTTTCCTTC,NC_000003.12:45126115:TTC:TTCCTTCTTTCTTTCTTTCCTTC
Gene:: CDCP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTCCTTCCTTC=0./0 (ALFA)
TTCCTTCTTTCC=0.000004/1 (TOPMED)
TTCC=0.080268/48 (NorthernSweden)
TTCC=0.219606/401 (Korea1K)
TCCT=0.3452/1280 (TWINSUK)
TCCT=0.358588/1382 (ALSPAC)
HGVS:: NC_000003.12:g.45126118_45126119insCTTC, NC_000003.12:g.45126118_45126119insCTTCCTTC, NC_000003.12:g.45126118_45126119insCTTCTTTCCTTC, NC_000003.12:g.45126118_45126119insCTTCTTTCTTTCCTTC, NC_000003.12:g.45126118_45126119insCTTCTTTCTTTCTTTCCTTC, NC_000003.11:g.45167610_45167611insCTTC, NC_000003.11:g.45167610_45167611insCTTCCTTC, NC_000003.11:g.45167610_45167611insCTTCTTTCCTTC, NC_000003.11:g.45167610_45167611insCTTCTTTCTTTCCTTC, NC_000003.11:g.45167610_45167611insCTTCTTTCTTTCTTTCCTTC

Select item 14915371913.

rs1491537191 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 3:45116303 (GRCh38)
3:45157795 (GRCh37)
Canonical SPDI:: NC_000003.12:45116297:TCTCTCT:TCTCT
Gene:: CDCP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TCTCT=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.45116299CT[2], NC_000003.11:g.45157791CT[2]

Select item 14915146644.

rs1491514664 has merged into rs1326852876 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,TTT,TTTT [Show Flanks]
Chromosome:: 3:45126116 (GRCh38)
3:45167608 (GRCh37)
Canonical SPDI:: NC_000003.12:45126114:TTT:T,NC_000003.12:45126114:TTT:TTTT,NC_000003.12:45126114:TTT:TTTTT
Gene:: CDCP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTTT=0./0 (ALFA)
-=0.00017/16 (GnomAD)
HGVS:: NC_000003.12:g.45126116_45126117del, NC_000003.12:g.45126117dup, NC_000003.12:g.45126116_45126117dup, NC_000003.11:g.45167608_45167609del, NC_000003.11:g.45167609dup, NC_000003.11:g.45167608_45167609dup

Select item 14915048035.

rs1491504803 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 3:45116298 (GRCh38)
3:45157791 (GRCh37)
Canonical SPDI:: NC_000003.12:45116298:C:CC
Gene:: CDCP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
HGVS:: NC_000003.12:g.45116299dup, NC_000003.11:g.45157791dup

Select item 14914485596.

rs1491448559 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 3:45126126 (GRCh38)
3:45167618 (GRCh37)
Canonical SPDI:: NC_000003.12:45126124:TCT:T
Gene:: CDCP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000003.12:g.45126126_45126127del, NC_000003.11:g.45167618_45167619del

Select item 14914449327.

rs1491444932 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CATA [Show Flanks]
Chromosome:: 3:45108830 (GRCh38)
3:45150323 (GRCh37)
Canonical SPDI:: NC_000003.12:45108830:ATA:ATACATA
Gene:: CDCP1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: ATACATA=0.00042/5 (ALFA)
HGVS:: NC_000003.12:g.45108833_45108834insCATA, NC_000003.11:g.45150325_45150326insCATA

Select item 14913937648.

rs1491393764 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CATA [Show Flanks]
Chromosome:: 3:45108794 (GRCh38)
3:45150287 (GRCh37)
Canonical SPDI:: NC_000003.12:45108794:ATA:ATACATA
Gene:: CDCP1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: ATACATA=0.00017/2 (ALFA)
HGVS:: NC_000003.12:g.45108797_45108798insCATA, NC_000003.11:g.45150289_45150290insCATA

Select item 14913856609.

rs1491385660 has merged into rs35794432 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT [Show Flanks]
Chromosome:: 3:45094242 (GRCh38)
3:45135734 (GRCh37)
Canonical SPDI:: NC_000003.12:45094231:TTTTTTTTTTTT:TTTTTTTTTT,NC_000003.12:45094231:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:45094231:TTTTTTTTTTTT:TTTTTTTTTTTTT
Gene:: CDCP1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
T=0.125/5 (GENOME_DK)
T=0.1561/579 (TWINSUK)
T=0.1681/648 (ALSPAC)
T=0.1867/935 (1000Genomes)
T=0.2023/121 (NorthernSweden)
T=0.2114/211 (GoNL)
HGVS:: NC_000003.12:g.45094242_45094243del, NC_000003.12:g.45094243del, NC_000003.12:g.45094243dup, NC_000003.11:g.45135734_45135735del, NC_000003.11:g.45135735del, NC_000003.11:g.45135735dup

Select item 149132358110.

rs1491323581 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GA [Show Flanks]
Chromosome:: 3:45116240 (GRCh38)
3:45157733 (GRCh37)
Canonical SPDI:: NC_000003.12:45116240:A:AGA
Gene:: CDCP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGA=0.00008/1 (ALFA)
AG=0.00034/30 (GnomAD)
AG=0.01453/26 (Korea1K)
AG=0.01818/298 (TOMMO)
HGVS:: NC_000003.12:g.45116241_45116242insGA, NC_000003.11:g.45157733_45157734insGA

Select item 149130058511.

rs1491300585 has merged into rs1222694717 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATAT>-,AT,ATATAT,ATATATAT [Show Flanks]
Chromosome:: 3:45108803 (GRCh38)
3:45150295 (GRCh37)
Canonical SPDI:: NC_000003.12:45108793:TATATATATATAT:TATATATAT,NC_000003.12:45108793:TATATATATATAT:TATATATATAT,NC_000003.12:45108793:TATATATATATAT:TATATATATATATAT,NC_000003.12:45108793:TATATATATATAT:TATATATATATATATAT
Gene:: CDCP1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATAT=0./0 (ALFA)
-=0.00296/38 (TOMMO)
HGVS:: NC_000003.12:g.45108795AT[4], NC_000003.12:g.45108795AT[5], NC_000003.12:g.45108795AT[7], NC_000003.12:g.45108795AT[8], NC_000003.11:g.45150287AT[4], NC_000003.11:g.45150287AT[5], NC_000003.11:g.45150287AT[7], NC_000003.11:g.45150287AT[8]

Select item 149125894512.

rs1491258945 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,TTATTT [Show Flanks]
Chromosome:: 3:45126112 (GRCh38)
3:45167604 (GRCh37)
Canonical SPDI:: NC_000003.12:45126110:TTT:T,NC_000003.12:45126110:TTT:TTTATTT
Gene:: CDCP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00017/2 (ALFA)
-=0.00008/2 (TOMMO)
HGVS:: NC_000003.12:g.45126112_45126113del, NC_000003.12:g.45126113_45126114insATTT, NC_000003.11:g.45167604_45167605del, NC_000003.11:g.45167605_45167606insATTT

Select item 149124319313.

rs1491243193 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTTCCTTCTTTC,CTTCTTTC,CTTCTTTCCTTCTTTC [Show Flanks]
Chromosome:: 3:45126111 (GRCh38)
3:45167604 (GRCh37)
Canonical SPDI:: NC_000003.12:45126111:TTCTTTC:TTCTTTCCTTCCTTCTTTC,NC_000003.12:45126111:TTCTTTC:TTCTTTCCTTCTTTC,NC_000003.12:45126111:TTCTTTC:TTCTTTCCTTCTTTCCTTCTTTC
Gene:: CDCP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTCTTTCCTTCTTTC=0./0 (ALFA)
TTCTTTCC=0.06316/1042 (TOMMO)
TTCTTTCC=0.13043/78 (NorthernSweden)
HGVS:: NC_000003.12:g.45126118_45126119insCTTCCTTCTTTC, NC_000003.12:g.45126118_45126119insCTTCTTTC, NC_000003.12:g.45126118_45126119insCTTCTTTCCTTCTTTC, NC_000003.11:g.45167610_45167611insCTTCCTTCTTTC, NC_000003.11:g.45167610_45167611insCTTCTTTC, NC_000003.11:g.45167610_45167611insCTTCTTTCCTTCTTTC

Select item 149119252114.

rs1491192521 has merged into rs57174113 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATAT>-,AT,ATATAT [Show Flanks]
Chromosome:: 3:45108875 (GRCh38)
3:45150367 (GRCh37)
Canonical SPDI:: NC_000003.12:45108865:TATATATATATAT:TATATATAT,NC_000003.12:45108865:TATATATATATAT:TATATATATAT,NC_000003.12:45108865:TATATATATATAT:TATATATATATATAT
Gene:: CDCP1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATAT=0./0 (ALFA)
-=0.00035/12 (GnomAD)
TA=0.00123/16 (TOMMO)
HGVS:: NC_000003.12:g.45108867AT[4], NC_000003.12:g.45108867AT[5], NC_000003.12:g.45108867AT[7], NC_000003.11:g.45150359AT[4], NC_000003.11:g.45150359AT[5], NC_000003.11:g.45150359AT[7]

Select item 149117649815.

rs1491176498 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CATA [Show Flanks]
Chromosome:: 3:45108866 (GRCh38)
3:45150359 (GRCh37)
Canonical SPDI:: NC_000003.12:45108866:ATA:ATACATA
Gene:: CDCP1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: ATACATA=0.00067/8 (ALFA)
HGVS:: NC_000003.12:g.45108869_45108870insCATA, NC_000003.11:g.45150361_45150362insCATA

Select item 149116698216.

rs1491166982 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TTATTTTATTTTTTTTTTT [Show Flanks]
Chromosome:: 3:45094232 (GRCh38)
3:45135725 (GRCh37)
Canonical SPDI:: NC_000003.12:45094232:TTTTTTTTTTT:TTTTTTTTTTTTTATTTTATTTTTTTTTTT
Gene:: CDCP1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TTTTTTTTTTTTTATTTTATTTTTTTTTTT=0./0 (ALFA)
TTTTTTTTTTTTTATTTTA=0.0001/1 (GnomAD)
HGVS:: NC_000003.12:g.45094233_45094243T[13]ATTTT[2]T[7], NC_000003.11:g.45135725_45135735T[13]ATTTT[2]T[7]

Select item 149112451517.

rs1491124515 has merged into rs58587894 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACA>-,CA,CACACA,CACACACA,CACACACACA [Show Flanks]
Chromosome:: 3:45130044 (GRCh38)
3:45171536 (GRCh37)
Canonical SPDI:: NC_000003.12:45130030:ACACACACACACACACA:ACACACACACACA,NC_000003.12:45130030:ACACACACACACACACA:ACACACACACACACA,NC_000003.12:45130030:ACACACACACACACACA:ACACACACACACACACACA,NC_000003.12:45130030:ACACACACACACACACA:ACACACACACACACACACACA,NC_000003.12:45130030:ACACACACACACACACA:ACACACACACACACACACACACA
Gene:: CDCP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACACA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
AC=0.002004/2 (GoNL)
AC=0.051402/11 (Vietnamese)
AC=0.099193/1662 (TOMMO)
AC=0.114928/576 (1000Genomes)
HGVS:: NC_000003.12:g.45130032CA[6], NC_000003.12:g.45130032CA[7], NC_000003.12:g.45130032CA[9], NC_000003.12:g.45130032CA[10], NC_000003.12:g.45130032CA[11], NC_000003.11:g.45171524CA[6], NC_000003.11:g.45171524CA[7], NC_000003.11:g.45171524CA[9], NC_000003.11:g.45171524CA[10], NC_000003.11:g.45171524CA[11]

Select item 149109934418.

rs1491099344 has merged into rs59177609 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA [Show Flanks]
Chromosome:: 3:45116254 (GRCh38)
3:45157746 (GRCh37)
Canonical SPDI:: NC_000003.12:45116239:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:45116239:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:45116239:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:45116239:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:45116239:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:45116239:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:45116239:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
Gene:: CDCP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000003.12:g.45116254_45116255del, NC_000003.12:g.45116255del, NC_000003.12:g.45116255dup, NC_000003.12:g.45116254_45116255dup, NC_000003.12:g.45116253_45116255dup, NC_000003.12:g.45116252_45116255dup, NC_000003.12:g.45116251_45116255dup, NC_000003.11:g.45157746_45157747del, NC_000003.11:g.45157747del, NC_000003.11:g.45157747dup, NC_000003.11:g.45157746_45157747dup, NC_000003.11:g.45157745_45157747dup, NC_000003.11:g.45157744_45157747dup, NC_000003.11:g.45157743_45157747dup

Select item 149098728719.

rs1490987287 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:45118420 (GRCh38)
3:45159912 (GRCh37)
Canonical SPDI:: NC_000003.12:45118419:T:C
Gene:: CDCP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.45118420T>C, NC_000003.11:g.45159912T>C, NM_022842.5:c.284A>G, NM_022842.4:c.284A>G, NM_178181.3:c.284A>G, NM_178181.2:c.284A>G, XM_011534024.2:c.281A>G, XM_011534024.1:c.281A>G, XM_024453718.2:c.86A>G, XM_024453718.1:c.86A>G, XM_017007070.2:c.284A>G, XM_017007070.1:c.284A>G, XM_047448759.1:c.86A>G, NP_073753.3:p.Lys95Arg, NP_835488.1:p.Lys95Arg, XP_011532326.1:p.Lys94Arg, XP_024309486.1:p.Lys29Arg, XP_016862559.1:p.Lys95Arg, XP_047304715.1:p.Lys29Arg

Select item 149096799920.

rs1490967999 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:45105862 (GRCh38)
3:45147354 (GRCh37)
Canonical SPDI:: NC_000003.12:45105861:G:A
Gene:: CDCP1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000003.12:g.45105862G>A, NC_000003.11:g.45147354G>A

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