SNP Links for Nucleotide (Select 390517028) - SNP

Links from Nucleotide

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Select item 14915823231.

rs1491582323 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 16:1512193 (GRCh38)
16:1562194 (GRCh37)
Canonical SPDI:: NC_000016.10:1512192:CA:
Gene:: IFT140 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: -=0.000085/9 (GnomAD)
HGVS:: NC_000016.10:g.1512193_1512194del, NC_000016.9:g.1562194_1562195del, NG_032783.1:g.104915_104916del, NG_050910.1:g.23850_23851del

Select item 14915193562.

rs1491519356 has merged into rs4017983 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACA>-,CA,CACACA,CACACACA,CACACATTCACATGCATGCACACACACACA,CACACGCACACACACACA [Show Flanks]
Chromosome:: 16:1528440 (GRCh38)
16:1578441 (GRCh37)
Canonical SPDI:: NC_000016.10:1528433:CACACACACA:CACACA,NC_000016.10:1528433:CACACACACA:CACACACA,NC_000016.10:1528433:CACACACACA:CACACACACACA,NC_000016.10:1528433:CACACACACA:CACACACACACACA,NC_000016.10:1528433:CACACACACA:CACACACACACATTCACATGCATGCACACACACACA,NC_000016.10:1528433:CACACACACA:CACACACACACGCACACACACACA
Gene:: IFT140 (Varview), TMEM204 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,genic_downstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACACA=0./0 (ALFA)
CA=0.34068/340 (GoNL)
CA=0.36242/216 (NorthernSweden)
-=0.41891/6994 (TOMMO)
-=0.44888/2248 (1000Genomes)
HGVS:: NC_000016.10:g.1528434CA[3], NC_000016.10:g.1528434CA[4], NC_000016.10:g.1528434CA[6], NC_000016.10:g.1528434CA[7], NC_000016.10:g.1528434_1528443CA[6]TTCACATGCATGCACACACACACA[1], NC_000016.10:g.1528434_1528443CA[5]CGCACACACACACA[1], NC_000016.9:g.1578435CA[3], NC_000016.9:g.1578435CA[4], NC_000016.9:g.1578435CA[6], NC_000016.9:g.1578435CA[7], NC_000016.9:g.1578435_1578444CA[6]TTCACATGCATGCACACACACACA[1], NC_000016.9:g.1578435_1578444CA[5]CGCACACACACACA[1], NG_032783.1:g.88666TG[3], NG_032783.1:g.88666TG[4], NG_032783.1:g.88666TG[6], NG_032783.1:g.88666TG[7], NG_032783.1:g.88666_88675TG[6]CATG[2]TGAATGTGTGTGTGTG[1], NG_032783.1:g.88666_88675TG[6]CGTGTGTGTGTG[1]

Select item 14915090283.

rs1491509028 has merged into rs965825314 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA [Show Flanks]
Chromosome:: 16:1601275 (GRCh38)
16:1651276 (GRCh37)
Canonical SPDI:: NC_000016.10:1601263:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000016.10:1601263:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000016.10:1601263:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000016.10:1601263:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000016.10:1601263:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000016.10:1601263:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000016.10:1601263:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000016.10:1601263:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000016.10:1601263:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
Gene:: IFT140 (Varview), LOC105371046 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.001307/346 (TOPMED)
HGVS:: NC_000016.10:g.1601275_1601279del, NC_000016.10:g.1601276_1601279del, NC_000016.10:g.1601277_1601279del, NC_000016.10:g.1601278_1601279del, NC_000016.10:g.1601279del, NC_000016.10:g.1601279dup, NC_000016.10:g.1601278_1601279dup, NC_000016.10:g.1601277_1601279dup, NC_000016.10:g.1601275_1601279dup, NC_000016.9:g.1651276_1651280del, NC_000016.9:g.1651277_1651280del, NC_000016.9:g.1651278_1651280del, NC_000016.9:g.1651279_1651280del, NC_000016.9:g.1651280del, NC_000016.9:g.1651280dup, NC_000016.9:g.1651279_1651280dup, NC_000016.9:g.1651278_1651280dup, NC_000016.9:g.1651276_1651280dup, NG_032783.1:g.15841_15845del, NG_032783.1:g.15842_15845del, NG_032783.1:g.15843_15845del, NG_032783.1:g.15844_15845del, NG_032783.1:g.15845del, NG_032783.1:g.15845dup, NG_032783.1:g.15844_15845dup, NG_032783.1:g.15843_15845dup, NG_032783.1:g.15841_15845dup

Select item 14914573524.

rs1491457352 has merged into rs1331940278 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA [Show Flanks]
Chromosome:: 16:1517364 (GRCh38)
16:1567365 (GRCh37)
Canonical SPDI:: NC_000016.10:1517350:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000016.10:1517350:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000016.10:1517350:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000016.10:1517350:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000016.10:1517350:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000016.10:1517350:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
Gene:: IFT140 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000016.10:g.1517364_1517367del, NC_000016.10:g.1517365_1517367del, NC_000016.10:g.1517366_1517367del, NC_000016.10:g.1517367del, NC_000016.10:g.1517367dup, NC_000016.10:g.1517366_1517367dup, NC_000016.9:g.1567365_1567368del, NC_000016.9:g.1567366_1567368del, NC_000016.9:g.1567367_1567368del, NC_000016.9:g.1567368del, NC_000016.9:g.1567368dup, NC_000016.9:g.1567367_1567368dup, NG_032783.1:g.99755_99758del, NG_032783.1:g.99756_99758del, NG_032783.1:g.99757_99758del, NG_032783.1:g.99758del, NG_032783.1:g.99758dup, NG_032783.1:g.99757_99758dup

Select item 14913035775.

rs1491303577 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 16:1517350 (GRCh38)
16:1567351 (GRCh37)
Canonical SPDI:: NC_000016.10:1517349:CA:
Gene:: IFT140 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00076/9 (ALFA)
HGVS:: NC_000016.10:g.1517350_1517351del, NC_000016.9:g.1567351_1567352del, NG_032783.1:g.99758_99759del

Select item 14912835486.

rs1491283548 [Homo sapiens]

Variant type:: DEL
Alleles:: GG>- [Show Flanks]
Chromosome:: 16:1604317 (GRCh38)
16:1654318 (GRCh37)
Canonical SPDI:: NC_000016.10:1604316:GG:
Gene:: IFT140 (Varview), LOC105371046 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000107/3 (TOMMO)
-=0.000209/24 (GnomAD)
HGVS:: NC_000016.10:g.1604317_1604318del, NC_000016.9:g.1654318_1654319del, NG_032783.1:g.12791_12792del

Select item 14912192327.

rs1491219232 has merged into rs1043234759 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACACACAC>-,ACAC,ACACAC,ACACACACAC,ACACACACACAC [Show Flanks]
Chromosome:: 16:1528363 (GRCh38)
16:1578364 (GRCh37)
Canonical SPDI:: NC_000016.10:1528361:CACACACAC:C,NC_000016.10:1528361:CACACACAC:CACAC,NC_000016.10:1528361:CACACACAC:CACACAC,NC_000016.10:1528361:CACACACAC:CACACACACAC,NC_000016.10:1528361:CACACACAC:CACACACACACAC
Gene:: IFT140 (Varview), TMEM204 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACAC=0./0 (ALFA)
CA=0.00014/2 (TOMMO)
HGVS:: NC_000016.10:g.1528363_1528370del, NC_000016.10:g.1528363AC[2], NC_000016.10:g.1528363AC[3], NC_000016.10:g.1528363AC[5], NC_000016.10:g.1528363AC[6], NC_000016.9:g.1578364_1578371del, NC_000016.9:g.1578364AC[2], NC_000016.9:g.1578364AC[3], NC_000016.9:g.1578364AC[5], NC_000016.9:g.1578364AC[6], NG_032783.1:g.88740_88747del, NG_032783.1:g.88740TG[2], NG_032783.1:g.88740TG[3], NG_032783.1:g.88740TG[5], NG_032783.1:g.88740TG[6]

Select item 14912049588.

rs1491204958 [Homo sapiens]

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

Select item 14912026169.

rs1491202616 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 16:1569022 (GRCh38)
16:1619023 (GRCh37)
Canonical SPDI:: NC_000016.10:1569021:TG:
Gene:: IFT140 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.000843/10 (ALFA)
-=0.000058/8 (GnomAD)
HGVS:: NC_000016.10:g.1569022_1569023del, NC_000016.9:g.1619023_1619024del, NG_032783.1:g.48086_48087del

Select item 149117416710.

rs1491174167 has merged into rs34665250 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA [Show Flanks]
Chromosome:: 16:1600475 (GRCh38)
16:1650476 (GRCh37)
Canonical SPDI:: NC_000016.10:1600463:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000016.10:1600463:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000016.10:1600463:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000016.10:1600463:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000016.10:1600463:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA
Gene:: IFT140 (Varview), LOC105371046 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.369/1848 (1000Genomes)
HGVS:: NC_000016.10:g.1600475_1600477del, NC_000016.10:g.1600476_1600477del, NC_000016.10:g.1600477del, NC_000016.10:g.1600477dup, NC_000016.10:g.1600476_1600477dup, NC_000016.9:g.1650476_1650478del, NC_000016.9:g.1650477_1650478del, NC_000016.9:g.1650478del, NC_000016.9:g.1650478dup, NC_000016.9:g.1650477_1650478dup, NG_032783.1:g.16643_16645del, NG_032783.1:g.16644_16645del, NG_032783.1:g.16645del, NG_032783.1:g.16645dup, NG_032783.1:g.16644_16645dup

Select item 149116405211.

rs1491164052 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 16:1590200 (GRCh38)
16:1640201 (GRCh37)
Canonical SPDI:: NC_000016.10:1590199:CA:
Gene:: IFT140 (Varview), LOC105371046 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00169/20 (ALFA)
HGVS:: NC_000016.10:g.1590200_1590201del, NC_000016.9:g.1640201_1640202del, NG_032783.1:g.26908_26909del

Select item 149112775012.

rs1491127750 [Homo sapiens]

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

Select item 149107831613.

rs1491078316 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 16:1600477 (GRCh38)
16:1650478 (GRCh37)
Canonical SPDI:: NC_000016.10:1600476:AT:
Gene:: IFT140 (Varview), LOC105371046 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.1600477_1600478del, NC_000016.9:g.1650478_1650479del, NG_032783.1:g.16631_16632del

Select item 149099644614.

rs1490996446 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:1594565 (GRCh38)
16:1644566 (GRCh37)
Canonical SPDI:: NC_000016.10:1594564:G:A
Gene:: IFT140 (Varview), LOC105371046 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000016.10:g.1594565G>A, NC_000016.9:g.1644566G>A, NG_032783.1:g.22544C>T

Select item 149095787115.

rs1490957871 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:1582701 (GRCh38)
16:1632702 (GRCh37)
Canonical SPDI:: NC_000016.10:1582700:C:T
Gene:: IFT140 (Varview), LOC105371046 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.1582701C>T, NC_000016.9:g.1632702C>T, NG_032783.1:g.34408G>A

Select item 149095533116.

rs1490955331 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:1526863 (GRCh38)
16:1576864 (GRCh37)
Canonical SPDI:: NC_000016.10:1526862:C:T
Gene:: IFT140 (Varview), TMEM204 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_downstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000016.10:g.1526863C>T, NC_000016.9:g.1576864C>T, NG_032783.1:g.90246G>A

Select item 149094063017.

rs1490940630 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 16:1614864 (GRCh38)
16:1664865 (GRCh37)
Canonical SPDI:: NC_000016.10:1614863:CCCCC:CCCC
Gene:: CRAMP1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
HGVS:: NC_000016.10:g.1614868del, NC_000016.9:g.1664869del, NG_032783.1:g.2245del, NM_020825.4:c.229del, NM_020825.3:c.229del, NP_065876.3:p.Gln77fs

Select item 149094013818.

rs1490940138 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:1595230 (GRCh38)
16:1645231 (GRCh37)
Canonical SPDI:: NC_000016.10:1595229:A:G
Gene:: IFT140 (Varview), LOC105371046 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.1595230A>G, NC_000016.9:g.1645231A>G, NG_032783.1:g.21879T>C

Select item 149092151519.

rs1490921515 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 16:1509348 (GRCh38)
16:1559349 (GRCh37)
Canonical SPDI:: NC_000016.10:1509347:T:A
Gene:: TELO2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000016.10:g.1509348T>A, NC_000016.9:g.1559349T>A, NG_032783.1:g.107761A>T, NG_050910.1:g.21005T>A

Select item 149091851820.

rs1490918518 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:1613993 (GRCh38)
16:1663994 (GRCh37)
Canonical SPDI:: NC_000016.10:1613992:G:A
Gene:: IFT140 (Varview), CRAMP1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.1613993G>A, NC_000016.9:g.1663994G>A, NG_032783.1:g.3116C>T

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