SNP Links for Nucleotide (Select 1024336771) - SNP

Links from Nucleotide

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Select item 14915442971.

rs1491544297 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 1:237884063 (GRCh38)
1:238047363 (GRCh37)
Canonical SPDI:: NC_000001.11:237884061:AAA:A
Gene:: ZP4 (Varview), LOC100130331 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000253/3 (ALFA)
-=0.000965/125 (GnomAD)
HGVS:: NC_000001.11:g.237884063_237884064del, NC_000001.10:g.238047363_238047364del, NG_046920.1:g.11860_11861del

Select item 14915242612.

rs1491524261 has merged into rs34256371 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,AA,AAA,AAAAA,AAAAAA [Show Flanks]
Chromosome:: 1:237881844 (GRCh38)
1:238045144 (GRCh37)
Canonical SPDI:: NC_000001.11:237881835:AAAAAAAAAAAA:AAAAAAAA,NC_000001.11:237881835:AAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:237881835:AAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:237881835:AAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:237881835:AAAAAAAAAAAA:AAAAAAAAAAAAAA
Gene:: LOC100130331 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
-=0.204163/54040 (TOPMED)
-=0.208333/125 (NorthernSweden)
-=0.209133/806 (ALSPAC)
-=0.21521/798 (TWINSUK)
-=0.254193/1273 (1000Genomes)
HGVS:: NC_000001.11:g.237881844_237881847del, NC_000001.11:g.237881846_237881847del, NC_000001.11:g.237881847del, NC_000001.11:g.237881847dup, NC_000001.11:g.237881846_237881847dup, NC_000001.10:g.238045144_238045147del, NC_000001.10:g.238045146_238045147del, NC_000001.10:g.238045147del, NC_000001.10:g.238045147dup, NC_000001.10:g.238045146_238045147dup, NG_046920.1:g.14084_14087del, NG_046920.1:g.14086_14087del, NG_046920.1:g.14087del, NG_046920.1:g.14087dup, NG_046920.1:g.14086_14087dup

Select item 14914843113.

rs1491484311 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 1:237884032 (GRCh38)
1:238047333 (GRCh37)
Canonical SPDI:: NC_000001.11:237884032::C
Gene:: ZP4 (Varview), LOC100130331 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: C=0.00029/24 (GnomAD)
C=0.0016/43 (TOMMO)
HGVS:: NC_000001.11:g.237884032_237884033insC, NC_000001.10:g.238047332_238047333insC, NG_046920.1:g.11890_11891insG

Select item 14914005084.

rs1491400508 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TA [Show Flanks]
Chromosome:: 1:237881836 (GRCh38)
1:238045137 (GRCh37)
Canonical SPDI:: NC_000001.11:237881836:A:ATA
Gene:: LOC100130331 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATA=0.000356/5 (ALFA)
AT=0.000431/114 (TOPMED)
AT=0.000768/65 (GnomAD)
HGVS:: NC_000001.11:g.237881837_237881838insTA, NC_000001.10:g.238045137_238045138insTA, NG_046920.1:g.14086_14087insAT

Select item 14912693465.

rs1491269346 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTT [Show Flanks]
Chromosome:: 1:237892059 (GRCh38)
1:238055360 (GRCh37)
Canonical SPDI:: NC_000001.11:237892059:TCTT:TCTTCTT
Gene:: ZP4 (Varview), LOC100130331 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: TCTTCTT=0./0 (ALFA)
TCT=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.237892061_237892063dup, NC_000001.10:g.238055361_238055363dup, NG_046920.1:g.3861_3863dup

Select item 14912428496.

rs1491242849 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 1:237892061 (GRCh38)
1:238055361 (GRCh37)
Canonical SPDI:: NC_000001.11:237892058:CTCT:CT
Gene:: ZP4 (Varview), LOC100130331 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCT=0./0 (ALFA)
-=0.000029/4 (GnomAD)
-=0.000042/11 (TOPMED)
-=0.009346/2 (Vietnamese)
HGVS:: NC_000001.11:g.237892059CT[1], NC_000001.10:g.238055359CT[1], NG_046920.1:g.3861AG[1]

Select item 14912426767.

rs1491242676 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 1:237884052 (GRCh38)
1:238047353 (GRCh37)
Canonical SPDI:: NC_000001.11:237884052::C
Gene:: ZP4 (Varview), LOC100130331 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: C=0.000169/21 (GnomAD)
HGVS:: NC_000001.11:g.237884052_237884053insC, NC_000001.10:g.238047352_238047353insC, NG_046920.1:g.11870_11871insG

Select item 14912419448.

rs1491241944 has merged into rs142077564 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACACA>-,CA,CACA,CACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACAAACACACACACACA,CACACACACACACACACACAAACACACACACACAAACACACACACACACACA,CACACACACACACACACACAAACACACACACACAAACACACACACACACACAAACACACACACACA,CACACACACACACACACACAAACACACACACACAAACACACACACACACACAAACACACACACACAAACACACACACACA [Show Flanks]
Chromosome:: 1:237883959 (GRCh38)
1:238047259 (GRCh37)
Canonical SPDI:: NC_000001.11:237883956:CACACACACA:CA,NC_000001.11:237883956:CACACACACA:CACA,NC_000001.11:237883956:CACACACACA:CACACA,NC_000001.11:237883956:CACACACACA:CACACACA,NC_000001.11:237883956:CACACACACA:CACACACACACA,NC_000001.11:237883956:CACACACACA:CACACACACACACA,NC_000001.11:237883956:CACACACACA:CACACACACACACACA,NC_000001.11:237883956:CACACACACA:CACACACACACACACACACACA,NC_000001.11:237883956:CACACACACA:CACACACACACACACACACACAAACACACACACACA,NC_000001.11:237883956:CACACACACA:CACACACACACACACACACACAAACACACACACACAAACACACACACACACACA,NC_000001.11:237883956:CACACACACA:CACACACACACACACACACACAAACACACACACACAAACACACACACACACACAAACACACACACACA,NC_000001.11:237883956:CACACACACA:CACACACACACACACACACACAAACACACACACACAAACACACACACACACACAAACACACACACACAAACACACACACACA
Gene:: ZP4 (Varview), LOC100130331 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CA=0./0 (ALFA)
CA=0.02833/17 (NorthernSweden)
CA=0.075/3 (GENOME_DK)
CA=0.09419/363 (ALSPAC)
CA=0.0952/353 (TWINSUK)
HGVS:: NC_000001.11:g.237883957CA[1], NC_000001.11:g.237883957CA[2], NC_000001.11:g.237883957CA[3], NC_000001.11:g.237883957CA[4], NC_000001.11:g.237883957CA[6], NC_000001.11:g.237883957CA[7], NC_000001.11:g.237883957CA[8], NC_000001.11:g.237883957CA[11], NC_000001.11:g.237883957_237883966CA[11]AACACACACACACA[1], NC_000001.11:g.237883957_237883966CA[11]AACACACACACACA[2]CA[2], NC_000001.11:g.237883957_237883966CA[11]AACACACACACACA[2]CA[2]AACACACACACACA[1], NC_000001.11:g.237883957_237883966CA[11]AACACACACACACA[2]CACAAACACACACA[2]CA[2], NC_000001.10:g.238047257CA[1], NC_000001.10:g.238047257CA[2], NC_000001.10:g.238047257CA[3], NC_000001.10:g.238047257CA[4], NC_000001.10:g.238047257CA[6], NC_000001.10:g.238047257CA[7], NC_000001.10:g.238047257CA[8], NC_000001.10:g.238047257CA[11], NC_000001.10:g.238047257_238047266CA[11]AACACACACACACA[1], NC_000001.10:g.238047257_238047266CA[11]AACACACACACACA[2]CA[2], NC_000001.10:g.238047257_238047266CA[11]AACACACACACACA[2]CA[2]AACACACACACACA[1], NC_000001.10:g.238047257_238047266CA[11]AACACACACACACA[2]CACAAACACACACA[2]CA[2], NG_046920.1:g.11957TG[1], NG_046920.1:g.11957TG[2], NG_046920.1:g.11957TG[3], NG_046920.1:g.11957TG[4], NG_046920.1:g.11957TG[6], NG_046920.1:g.11957TG[7], NG_046920.1:g.11957TG[8], NG_046920.1:g.11957TG[11], NG_046920.1:g.11957_11966TG[6]TTTGTGTGTGTGTGTGTGTGTGTG[1], NG_046920.1:g.11957_11966TG[8]TTTGTGTGTGTGTG[2]TG[5], NG_046920.1:g.11957_11966TGTGTGTGTGTGTTTGTG[2]TG[4]TTTGTGTGTGTGTGTGTGTGTGTG[1], NG_046920.1:g.11957_11966TGTGTGTGTGTGTTTGTGTGTGTGTGTTTGTG[2]TG[9]

Select item 14912382839.

rs1491238283 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,AAA [Show Flanks]
Chromosome:: 1:237884053 (GRCh38)
1:238047353 (GRCh37)
Canonical SPDI:: NC_000001.11:237884051:AAA:A,NC_000001.11:237884051:AAA:AAAA
Gene:: ZP4 (Varview), LOC100130331 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000084/1 (ALFA)
-=0.000071/1 (TOMMO)
-=0.003543/440 (GnomAD)
HGVS:: NC_000001.11:g.237884053_237884054del, NC_000001.11:g.237884054dup, NC_000001.10:g.238047353_238047354del, NC_000001.10:g.238047354dup, NG_046920.1:g.11870_11871del, NG_046920.1:g.11871dup

Select item 149117738410.

rs1491177384 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 1:237884042 (GRCh38)
1:238047343 (GRCh37)
Canonical SPDI:: NC_000001.11:237884042::C
Gene:: ZP4 (Varview), LOC100130331 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: C=0.006614/710 (GnomAD)
HGVS:: NC_000001.11:g.237884042_237884043insC, NC_000001.10:g.238047342_238047343insC, NG_046920.1:g.11880_11881insG

Select item 149116960611.

rs1491169606 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AACA [Show Flanks]
Chromosome:: 1:237883957 (GRCh38)
1:238047258 (GRCh37)
Canonical SPDI:: NC_000001.11:237883957:ACA:ACAAACA
Gene:: ZP4 (Varview), LOC100130331 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ACAAACA=0./0 (ALFA)
ACAA=0.00001/1 (GnomAD)
HGVS:: NC_000001.11:g.237883960_237883961insAACA, NC_000001.10:g.238047260_238047261insAACA, NG_046920.1:g.11965_11966insTTGT

Select item 149109082912.

rs1491090829 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 1:237884062 (GRCh38)
1:238047363 (GRCh37)
Canonical SPDI:: NC_000001.11:237884062::C
Gene:: ZP4 (Varview), LOC100130331 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: C=0.000229/30 (GnomAD)
HGVS:: NC_000001.11:g.237884062_237884063insC, NC_000001.10:g.238047362_238047363insC, NG_046920.1:g.11860_11861insG

Select item 149098170313.

rs1490981703 [Homo sapiens]

Variant type:: INS
Alleles:: ->AAAAGA [Show Flanks]
Chromosome:: 1:237881375 (GRCh38)
1:238044676 (GRCh37)
Canonical SPDI:: NC_000001.11:237881375::AAAAGA
Gene:: LOC100130331 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000001.11:g.237881375_237881376insAAAAGA, NC_000001.10:g.238044675_238044676insAAAAGA, NG_046920.1:g.14547_14548insTCTTTT

Select item 149091130314.

rs1490911303 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:237884214 (GRCh38)
1:238047514 (GRCh37)
Canonical SPDI:: NC_000001.11:237884213:C:T
Gene:: ZP4 (Varview), LOC100130331 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.237884214C>T, NC_000001.10:g.238047514C>T, NG_046920.1:g.11709G>A

Select item 149088754115.

rs1490887541 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:237882460 (GRCh38)
1:238045760 (GRCh37)
Canonical SPDI:: NC_000001.11:237882459:T:C
Gene:: ZP4 (Varview), LOC100130331 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.237882460T>C, NC_000001.10:g.238045760T>C, NG_046920.1:g.13463A>G, NM_021186.5:c.1585A>G, NM_021186.4:c.1585A>G, NM_021186.3:c.1585A>G, NP_067009.1:p.Lys529Glu

Select item 149084441516.

rs1490844415 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:237883973 (GRCh38)
1:238047273 (GRCh37)
Canonical SPDI:: NC_000001.11:237883972:C:A,NC_000001.11:237883972:C:T
Gene:: ZP4 (Varview), LOC100130331 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.00004/2 (GnomAD)
A=0.03288/96 (KOREAN)
C=0.5/5 (SGDP_PRJ)
HGVS:: NC_000001.11:g.237883973C>A, NC_000001.11:g.237883973C>T, NC_000001.10:g.238047273C>A, NC_000001.10:g.238047273C>T, NG_046920.1:g.11950G>T, NG_046920.1:g.11950G>A

Select item 149072244217.

rs1490722442 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:237878617 (GRCh38)
1:238041917 (GRCh37)
Canonical SPDI:: NC_000001.11:237878616:G:A
Gene:: LOC100130331 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.237878617G>A, NC_000001.10:g.238041917G>A, NG_046920.1:g.17306C>T

Select item 149054145318.

rs1490541453 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:237891025 (GRCh38)
1:238054325 (GRCh37)
Canonical SPDI:: NC_000001.11:237891024:C:T
Gene:: ZP4 (Varview), LOC100130331 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.237891025C>T, NC_000001.10:g.238054325C>T, NG_046920.1:g.4898G>A

Select item 149039811119.

rs1490398111 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:237882849 (GRCh38)
1:238046149 (GRCh37)
Canonical SPDI:: NC_000001.11:237882848:G:T
Gene:: ZP4 (Varview), LOC100130331 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000001.11:g.237882849G>T, NC_000001.10:g.238046149G>T, NG_046920.1:g.13074C>A

Select item 149028309120.

rs1490283091 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:237879829 (GRCh38)
1:238043129 (GRCh37)
Canonical SPDI:: NC_000001.11:237879828:G:A
Gene:: LOC100130331 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.237879829G>A, NC_000001.10:g.238043129G>A, NG_046920.1:g.16094C>T

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