SNP Links for Nucleotide (Select 699045670) - SNP

Links from Nucleotide

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Select item 14915211471.

rs1491521147 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 10:110898158 (GRCh38)
10:112657916 (GRCh37)
Canonical SPDI:: NC_000010.11:110898157:GT:
Gene:: PDCD4 (Varview), MIR4680 (Varview)
Functional Consequence:: 500B_downstream_variant,3_prime_UTR_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00001/1 (GnomAD)
-=0.00029/12 (GnomAD_exomes)
-=0.00054/16 (ExAC)
HGVS:: NC_000010.11:g.110898158_110898159del, NC_000010.10:g.112657916_112657917del, NG_041778.1:g.26208_26209del, NM_014456.5:c.*70_*71del, NM_014456.4:c.*70_*71del, NM_145341.4:c.*70_*71del, NM_145341.3:c.*70_*71del, NM_001199492.2:c.*70_*71del, NM_001199492.1:c.*70_*71del

Select item 14915015912.

rs1491501591 has merged into rs138241725 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,TTT,TTTTT,TTTTTT [Show Flanks]
Chromosome:: 10:110904255 (GRCh38)
10:112664013 (GRCh37)
Canonical SPDI:: NC_000010.11:110904251:TTTTTTT:TTT,NC_000010.11:110904251:TTTTTTT:TTTTTT,NC_000010.11:110904251:TTTTTTT:TTTTTTTT,NC_000010.11:110904251:TTTTTTT:TTTTTTTTT
Gene:: BBIP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
-=0.08104/377 (1000Genomes)
HGVS:: NC_000010.11:g.110904255_110904258del, NC_000010.11:g.110904258del, NC_000010.11:g.110904258dup, NC_000010.11:g.110904257_110904258dup, NC_000010.10:g.112664013_112664016del, NC_000010.10:g.112664016del, NC_000010.10:g.112664016dup, NC_000010.10:g.112664015_112664016dup, NG_041778.1:g.20112_20115del, NG_041778.1:g.20115del, NG_041778.1:g.20115dup, NG_041778.1:g.20114_20115dup

Select item 14914667273.

rs1491466727 has merged into rs1201996103 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT [Show Flanks]
Chromosome:: 10:110909214 (GRCh38)
10:112668972 (GRCh37)
Canonical SPDI:: NC_000010.11:110909204:TTTTTTTTTTTT:TTTTTTTTT,NC_000010.11:110909204:TTTTTTTTTTTT:TTTTTTTTTT,NC_000010.11:110909204:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000010.11:110909204:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000010.11:110909204:TTTTTTTTTTTT:TTTTTTTTTTTTTT
Gene:: BBIP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
TT=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.110909214_110909216del, NC_000010.11:g.110909215_110909216del, NC_000010.11:g.110909216del, NC_000010.11:g.110909216dup, NC_000010.11:g.110909215_110909216dup, NC_000010.10:g.112668972_112668974del, NC_000010.10:g.112668973_112668974del, NC_000010.10:g.112668974del, NC_000010.10:g.112668974dup, NC_000010.10:g.112668973_112668974dup, NG_041778.1:g.15160_15162del, NG_041778.1:g.15161_15162del, NG_041778.1:g.15162del, NG_041778.1:g.15162dup, NG_041778.1:g.15161_15162dup

Select item 14914342774.

rs1491434277 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 10:110909204 (GRCh38)
10:112668962 (GRCh37)
Canonical SPDI:: NC_000010.11:110909203:CT:
Gene:: BBIP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000927/11 (ALFA)
-=0.000029/4 (GnomAD)
HGVS:: NC_000010.11:g.110909204_110909205del, NC_000010.10:g.112668962_112668963del, NG_041778.1:g.15162_15163del

Select item 14913335485.

rs1491333548 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 10:110899796 (GRCh38)
10:112659554 (GRCh37)
Canonical SPDI:: NC_000010.11:110899795:CA:
Gene:: PDCD4 (Varview), BBIP1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by cluster
MAF:: -=0.0021/8 (ALSPAC)
-=0.003/11 (TWINSUK)
HGVS:: NC_000010.11:g.110899796_110899797del, NC_000010.10:g.112659554_112659555del, NG_041778.1:g.24570_24571del, NM_001195305.3:c.*563_*564del, NM_001195305.2:c.*563_*564del, NM_001195305.1:c.*563_*564del, NM_001243783.3:c.*563_*564del, NM_001243783.2:c.*563_*564del, NM_001243783.1:c.*563_*564del, NM_001195306.2:c.*563_*564del, NM_001195306.1:c.*563_*564del, NM_001195304.2:c.*687_*688del, NM_001195304.1:c.*687_*688del, NM_001195307.2:c.*563_*564del, NM_001195307.1:c.*563_*564del, NM_014456.5:c.*1708_*1709del, NM_014456.4:c.*1708_*1709del, NM_145341.4:c.*1708_*1709del, NM_145341.3:c.*1708_*1709del, NM_001199492.2:c.*1708_*1709del, NM_001199492.1:c.*1708_*1709del, NR_024140.1:n.1301_1302del, XM_047426004.1:c.*563_*564del, NR_015402.1:n.1144_1145del, NR_024142.1:n.1069_1070del, NR_024141.1:n.1051_1052del, XM_047426005.1:c.*563_*564del, NR_024143.1:n.990_991del

Select item 14912109686.

rs1491210968 has merged into rs34559519 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 10:110907522 (GRCh38)
10:112667280 (GRCh37)
Canonical SPDI:: NC_000010.11:110907515:AAAAAAAAAAAAAAA:AAAAAA,NC_000010.11:110907515:AAAAAAAAAAAAAAA:AAAAAAAAA,NC_000010.11:110907515:AAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000010.11:110907515:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000010.11:110907515:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000010.11:110907515:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000010.11:110907515:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:110907515:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000010.11:110907515:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000010.11:110907515:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000010.11:110907515:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000010.11:110907515:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000010.11:110907515:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000010.11:110907515:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:110907515:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:110907515:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: BBIP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAA=0./0 (ALFA)
A=0.3351/1678 (1000Genomes)
HGVS:: NC_000010.11:g.110907522_110907530del, NC_000010.11:g.110907525_110907530del, NC_000010.11:g.110907526_110907530del, NC_000010.11:g.110907527_110907530del, NC_000010.11:g.110907528_110907530del, NC_000010.11:g.110907529_110907530del, NC_000010.11:g.110907530del, NC_000010.11:g.110907530dup, NC_000010.11:g.110907529_110907530dup, NC_000010.11:g.110907528_110907530dup, NC_000010.11:g.110907527_110907530dup, NC_000010.11:g.110907526_110907530dup, NC_000010.11:g.110907525_110907530dup, NC_000010.11:g.110907524_110907530dup, NC_000010.11:g.110907520_110907530dup, NC_000010.11:g.110907519_110907530dup, NC_000010.10:g.112667280_112667288del, NC_000010.10:g.112667283_112667288del, NC_000010.10:g.112667284_112667288del, NC_000010.10:g.112667285_112667288del, NC_000010.10:g.112667286_112667288del, NC_000010.10:g.112667287_112667288del, NC_000010.10:g.112667288del, NC_000010.10:g.112667288dup, NC_000010.10:g.112667287_112667288dup, NC_000010.10:g.112667286_112667288dup, NC_000010.10:g.112667285_112667288dup, NC_000010.10:g.112667284_112667288dup, NC_000010.10:g.112667283_112667288dup, NC_000010.10:g.112667282_112667288dup, NC_000010.10:g.112667278_112667288dup, NC_000010.10:g.112667277_112667288dup, NG_041778.1:g.16843_16851del, NG_041778.1:g.16846_16851del, NG_041778.1:g.16847_16851del, NG_041778.1:g.16848_16851del, NG_041778.1:g.16849_16851del, NG_041778.1:g.16850_16851del, NG_041778.1:g.16851del, NG_041778.1:g.16851dup, NG_041778.1:g.16850_16851dup, NG_041778.1:g.16849_16851dup, NG_041778.1:g.16848_16851dup, NG_041778.1:g.16847_16851dup, NG_041778.1:g.16846_16851dup, NG_041778.1:g.16845_16851dup, NG_041778.1:g.16841_16851dup, NG_041778.1:g.16840_16851dup

Select item 14911550817.

rs1491155081 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->GA
Chromosome:: no mapping
Canonical SPDI:

Select item 14909745558.

rs1490974555 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:110917175 (GRCh38)
10:112676933 (GRCh37)
Canonical SPDI:: NC_000010.11:110917174:A:G
Gene:: BBIP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.110917175A>G, NC_000010.10:g.112676933A>G, NG_028922.1:g.2633A>G, NG_041778.1:g.7192T>C

Select item 14909234489.

rs1490923448 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:110918007 (GRCh38)
10:112677765 (GRCh37)
Canonical SPDI:: NC_000010.11:110918006:A:G
Gene:: SHOC2 (Varview), BBIP1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.110918007A>G, NC_000010.10:g.112677765A>G, NG_028922.1:g.3465A>G, NG_041778.1:g.6360T>C

Select item 149087403910.

rs1490874039 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:110901603 (GRCh38)
10:112661361 (GRCh37)
Canonical SPDI:: NC_000010.11:110901602:G:C
Gene:: BBIP1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,coding_sequence_variant,intron_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_000010.11:g.110901603G>C, NC_000010.10:g.112661361G>C, NG_041778.1:g.22764C>G, NM_001195305.3:c.47C>G, NM_001195305.2:c.47C>G, NM_001195305.1:c.47C>G, NM_001243783.3:c.-20C>G, NM_001243783.2:c.-20C>G, NM_001243783.1:c.-20C>G, NM_001195306.2:c.47C>G, NM_001195306.1:c.47C>G, NM_001195304.2:c.204C>G, NM_001195304.1:c.204C>G, NR_024140.1:n.506C>G, XM_047426004.1:c.47C>G, NR_015402.1:n.349C>G, NR_024141.1:n.256C>G, XM_047426005.1:c.-20C>G, NR_024143.1:n.195C>G, NP_001182234.1:p.Thr16Ser, NP_001182235.1:p.Thr16Ser, NP_001182233.1:p.His68Gln, XP_047281960.1:p.Thr16Ser

Select item 149078087711.

rs1490780877 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 10:110908431 (GRCh38)
10:112668189 (GRCh37)
Canonical SPDI:: NC_000010.11:110908430:A:C
Gene:: BBIP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.110908431A>C, NC_000010.10:g.112668189A>C, NG_041778.1:g.15936T>G

Select item 149049277012.

rs1490492770 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:110917546 (GRCh38)
10:112677304 (GRCh37)
Canonical SPDI:: NC_000010.11:110917545:A:G
Gene:: SHOC2 (Varview), BBIP1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.110917546A>G, NC_000010.10:g.112677304A>G, NG_028922.1:g.3004A>G, NG_041778.1:g.6821T>C

Select item 149028994713.

rs1490289947 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:110908953 (GRCh38)
10:112668711 (GRCh37)
Canonical SPDI:: NC_000010.11:110908952:G:A
Gene:: BBIP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000142/2 (ALFA)
A=0.00003/8 (TOPMED)
HGVS:: NC_000010.11:g.110908953G>A, NC_000010.10:g.112668711G>A, NG_041778.1:g.15414C>T

Select item 149027781914.

rs1490277819 [Homo sapiens]

Variant type:: SNV:
Alleles:: TGCTT>-
Chromosome:: no mapping
Canonical SPDI:

Select item 149000201415.

rs1490002014 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 10:110917966 (GRCh38)
10:112677724 (GRCh37)
Canonical SPDI:: NC_000010.11:110917965:G:T
Gene:: SHOC2 (Varview), BBIP1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.110917966G>T, NC_000010.10:g.112677724G>T, NG_028922.1:g.3424G>T, NG_041778.1:g.6401C>A

Select item 148999283616.

rs1489992836 [Homo sapiens]

Variant type:: DEL
Alleles:: AAGCAC>- [Show Flanks]
Chromosome:: 10:110898179 (GRCh38)
10:112657937 (GRCh37)
Canonical SPDI:: NC_000010.11:110898178:AAGCAC:
Gene:: PDCD4 (Varview), MIR4680 (Varview)
Functional Consequence:: 500B_downstream_variant,3_prime_UTR_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.0043/19 (ALFA)
HGVS:: NC_000010.11:g.110898179_110898184del, NC_000010.10:g.112657937_112657942del, NG_041778.1:g.26183_26188del, NM_014456.5:c.*91_*96del, NM_014456.4:c.*91_*96del, NM_145341.4:c.*91_*96del, NM_145341.3:c.*91_*96del, NM_001199492.2:c.*91_*96del, NM_001199492.1:c.*91_*96del

Select item 148995160117.

rs1489951601 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:110918690 (GRCh38)
10:112678448 (GRCh37)
Canonical SPDI:: NC_000010.11:110918689:G:A
Gene:: SHOC2 (Varview), BBIP1 (Varview)
Functional Consequence:: 2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.110918690G>A, NC_000010.10:g.112678448G>A, NG_028922.1:g.4148G>A, NG_041778.1:g.5677C>T, XM_047426004.1:c.-211C>T

Select item 148977154218.

rs1489771542 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:110909925 (GRCh38)
10:112669683 (GRCh37)
Canonical SPDI:: NC_000010.11:110909924:C:T
Gene:: BBIP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.110909925C>T, NC_000010.10:g.112669683C>T, NG_041778.1:g.14442G>A

Select item 148946998219.

rs1489469982 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 10:110903618 (GRCh38)
10:112663376 (GRCh37)
Canonical SPDI:: NC_000010.11:110903617:G:A,NC_000010.11:110903617:G:T
Gene:: BBIP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000021/3 (GnomAD)
T=0.000023/6 (TOPMED)
HGVS:: NC_000010.11:g.110903618G>A, NC_000010.11:g.110903618G>T, NC_000010.10:g.112663376G>A, NC_000010.10:g.112663376G>T, NG_041778.1:g.20749C>T, NG_041778.1:g.20749C>A

Select item 148937141020.

rs1489371410 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:110910582 (GRCh38)
10:112670340 (GRCh37)
Canonical SPDI:: NC_000010.11:110910581:A:G
Gene:: BBIP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.110910582A>G, NC_000010.10:g.112670340A>G, NG_041778.1:g.13785T>C

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