SNP Links for Gene (Select 643037) - SNP

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Select item 14913243771.

rs1491324377 [Homo sapiens]

Variant type:: DEL
Alleles:: GG>- [Show Flanks]
Chromosome:: 11:94514250 (GRCh38)
11:94247416 (GRCh37)
Canonical SPDI:: NC_000011.10:94514249:GG:
Gene:: MRE11 (Varview), C11orf97 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.012714/49 (ALSPAC)
-=0.014563/54 (TWINSUK)
HGVS:: NC_000011.10:g.94514250_94514251del, NC_000011.9:g.94247416_94247417del

Select item 14913019592.

rs1491301959 has merged into rs35944099 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAACAAAC>-,AAAC,AAACAAACAAAC,AAACAAACAAACAAAC,AAACAAACAAACAAACAAAC [Show Flanks]
Chromosome:: 11:94531455 (GRCh38)
11:94264621 (GRCh37)
Canonical SPDI:: NC_000011.10:94531437:CAAACAAACAAACAAACAAACAAAC:CAAACAAACAAACAAAC,NC_000011.10:94531437:CAAACAAACAAACAAACAAACAAAC:CAAACAAACAAACAAACAAAC,NC_000011.10:94531437:CAAACAAACAAACAAACAAACAAAC:CAAACAAACAAACAAACAAACAAACAAAC,NC_000011.10:94531437:CAAACAAACAAACAAACAAACAAAC:CAAACAAACAAACAAACAAACAAACAAACAAAC,NC_000011.10:94531437:CAAACAAACAAACAAACAAACAAAC:CAAACAAACAAACAAACAAACAAACAAACAAACAAAC
Gene:: C11orf97 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CAAACAAACAAACAAACAAACAAACAAACAAAC=0.0005/3 (ALFA)
-=0.0132/66 (1000Genomes)
HGVS:: NC_000011.10:g.94531439AAAC[4], NC_000011.10:g.94531439AAAC[5], NC_000011.10:g.94531439AAAC[7], NC_000011.10:g.94531439AAAC[8], NC_000011.10:g.94531439AAAC[9], NC_000011.9:g.94264605AAAC[4], NC_000011.9:g.94264605AAAC[5], NC_000011.9:g.94264605AAAC[7], NC_000011.9:g.94264605AAAC[8], NC_000011.9:g.94264605AAAC[9]

Select item 14912975813.

rs1491297581 has merged into rs10562282 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 11:94514650 (GRCh38)
11:94247816 (GRCh37)
Canonical SPDI:: NC_000011.10:94514640:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000011.10:94514640:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000011.10:94514640:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000011.10:94514640:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000011.10:94514640:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000011.10:94514640:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000011.10:94514640:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000011.10:94514640:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000011.10:94514640:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000011.10:94514640:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000011.10:94514640:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000011.10:94514640:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:94514640:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:94514640:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:94514640:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:94514640:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:94514640:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:94514640:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:94514640:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:94514640:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:94514640:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:94514640:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:94514640:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:94514640:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:94514640:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: C11orf97 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000011.10:g.94514650_94514663del, NC_000011.10:g.94514651_94514663del, NC_000011.10:g.94514652_94514663del, NC_000011.10:g.94514653_94514663del, NC_000011.10:g.94514654_94514663del, NC_000011.10:g.94514656_94514663del, NC_000011.10:g.94514658_94514663del, NC_000011.10:g.94514659_94514663del, NC_000011.10:g.94514660_94514663del, NC_000011.10:g.94514661_94514663del, NC_000011.10:g.94514662_94514663del, NC_000011.10:g.94514663del, NC_000011.10:g.94514663dup, NC_000011.10:g.94514662_94514663dup, NC_000011.10:g.94514661_94514663dup, NC_000011.10:g.94514660_94514663dup, NC_000011.10:g.94514659_94514663dup, NC_000011.10:g.94514657_94514663dup, NC_000011.10:g.94514643_94514663dup, NC_000011.10:g.94514641_94514663dup, NC_000011.10:g.94514663_94514664insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.10:g.94514663_94514664insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.10:g.94514663_94514664insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.10:g.94514663_94514664insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.10:g.94514663_94514664insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.94247816_94247829del, NC_000011.9:g.94247817_94247829del, NC_000011.9:g.94247818_94247829del, NC_000011.9:g.94247819_94247829del, NC_000011.9:g.94247820_94247829del, NC_000011.9:g.94247822_94247829del, NC_000011.9:g.94247824_94247829del, NC_000011.9:g.94247825_94247829del, NC_000011.9:g.94247826_94247829del, NC_000011.9:g.94247827_94247829del, NC_000011.9:g.94247828_94247829del, NC_000011.9:g.94247829del, NC_000011.9:g.94247829dup, NC_000011.9:g.94247828_94247829dup, NC_000011.9:g.94247827_94247829dup, NC_000011.9:g.94247826_94247829dup, NC_000011.9:g.94247825_94247829dup, NC_000011.9:g.94247823_94247829dup, NC_000011.9:g.94247809_94247829dup, NC_000011.9:g.94247807_94247829dup, NC_000011.9:g.94247829_94247830insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.94247829_94247830insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.94247829_94247830insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.94247829_94247830insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.94247829_94247830insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14912539654.

rs1491253965 has merged into rs1214688261 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>-,TATA,TATATA [Show Flanks]
Chromosome:: 11:94511192 (GRCh38)
11:94244358 (GRCh37)
Canonical SPDI:: NC_000011.10:94511183:TATATATATA:TATATATA,NC_000011.10:94511183:TATATATATA:TATATATATATA,NC_000011.10:94511183:TATATATATA:TATATATATATATA
Gene:: MRE11 (Varview), C11orf97 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATA=0./0 (ALFA)
TATA=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.94511184TA[4], NC_000011.10:g.94511184TA[6], NC_000011.10:g.94511184TA[7], NC_000011.9:g.94244350TA[4], NC_000011.9:g.94244350TA[6], NC_000011.9:g.94244350TA[7]

Select item 14910072085.

rs1491007208 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AT [Show Flanks]
Chromosome:: 11:94512966 (GRCh38)
11:94246133 (GRCh37)
Canonical SPDI:: NC_000011.10:94512966:AT:ATAT
Gene:: MRE11 (Varview), C11orf97 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: ATAT=0.000084/1 (ALFA)
AT=0.000039/5 (GnomAD)
HGVS:: NC_000011.10:g.94512967_94512968dup, NC_000011.9:g.94246133_94246134dup

Select item 14909852766.

rs1490985276 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:94515445 (GRCh38)
11:94248611 (GRCh37)
Canonical SPDI:: NC_000011.10:94515444:T:G
Gene:: C11orf97 (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_000011.10:g.94515445T>G, NC_000011.9:g.94248611T>G

Select item 14909470437.

rs1490947043 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:94532582 (GRCh38)
11:94265748 (GRCh37)
Canonical SPDI:: NC_000011.10:94532581:C:G
Gene:: C11orf97 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.94532582C>G, NC_000011.9:g.94265748C>G

Select item 14908709058.

rs1490870905 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:94529177 (GRCh38)
11:94262343 (GRCh37)
Canonical SPDI:: NC_000011.10:94529176:C:G
Gene:: C11orf97 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.94529177C>G, NC_000011.9:g.94262343C>G

Select item 14907362559.

rs1490736255 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:94522924 (GRCh38)
11:94256090 (GRCh37)
Canonical SPDI:: NC_000011.10:94522923:C:T
Gene:: C11orf97 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.94522924C>T, NC_000011.9:g.94256090C>T

Select item 149058796910.

rs1490587969 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:94523454 (GRCh38)
11:94256620 (GRCh37)
Canonical SPDI:: NC_000011.10:94523453:A:C
Gene:: C11orf97 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000019/5 (TOPMED)
HGVS:: NC_000011.10:g.94523454A>C, NC_000011.9:g.94256620A>C

Select item 148981814111.

rs1489818141 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:94514435 (GRCh38)
11:94247601 (GRCh37)
Canonical SPDI:: NC_000011.10:94514434:T:C
Gene:: C11orf97 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.94514435T>C, NC_000011.9:g.94247601T>C

Select item 148971134612.

rs1489711346 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 11:94512671 (GRCh38)
11:94245837 (GRCh37)
Canonical SPDI:: NC_000011.10:94512670:A:C,NC_000011.10:94512670:A:G
Gene:: MRE11 (Varview), C11orf97 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000026/7 (TOPMED)
G=0.000057/8 (GnomAD)
HGVS:: NC_000011.10:g.94512671A>C, NC_000011.10:g.94512671A>G, NC_000011.9:g.94245837A>C, NC_000011.9:g.94245837A>G, NM_001190462.2:c.143A>C, NM_001190462.2:c.143A>G, NM_001190462.1:c.143A>C, NM_001190462.1:c.143A>G, NP_001177391.1:p.Gln48Pro, NP_001177391.1:p.Gln48Arg

Select item 148934593013.

rs1489345930 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:94521892 (GRCh38)
11:94255058 (GRCh37)
Canonical SPDI:: NC_000011.10:94521891:T:C
Gene:: C11orf97 (Varview)
Functional Consequence:: 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_000011.10:g.94521892T>C, NC_000011.9:g.94255058T>C

Select item 148909991114.

rs1489099911 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:94512516 (GRCh38)
11:94245682 (GRCh37)
Canonical SPDI:: NC_000011.10:94512515:A:G
Gene:: MRE11 (Varview), C11orf97 (Varview)
Functional Consequence:: 5_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.94512516A>G, NC_000011.9:g.94245682A>G, NM_001190462.2:c.-13A>G

Select item 148908139215.

rs1489081392 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:94520280 (GRCh38)
11:94253446 (GRCh37)
Canonical SPDI:: NC_000011.10:94520279:T:G
Gene:: C11orf97 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.94520280T>G, NC_000011.9:g.94253446T>G

Select item 148900279916.

rs1489002799 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:94529523 (GRCh38)
11:94262689 (GRCh37)
Canonical SPDI:: NC_000011.10:94529522:T:G
Gene:: C11orf97 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000342/1 (KOREAN)
G=0.001097/18 (TOMMO)
HGVS:: NC_000011.10:g.94529523T>G, NC_000011.9:g.94262689T>G

Select item 148891963517.

rs1488919635 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:94527434 (GRCh38)
11:94260600 (GRCh37)
Canonical SPDI:: NC_000011.10:94527433:A:G
Gene:: C11orf97 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.94527434A>G, NC_000011.9:g.94260600A>G

Select item 148864613918.

rs1488646139 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:94512950 (GRCh38)
11:94246116 (GRCh37)
Canonical SPDI:: NC_000011.10:94512949:C:T
Gene:: MRE11 (Varview), C11orf97 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.94512950C>T, NC_000011.9:g.94246116C>T

Select item 148840741619.

rs1488407416 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:94528086 (GRCh38)
11:94261252 (GRCh37)
Canonical SPDI:: NC_000011.10:94528085:G:A,NC_000011.10:94528085:G:T
Gene:: C11orf97 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.94528086G>A, NC_000011.10:g.94528086G>T, NC_000011.9:g.94261252G>A, NC_000011.9:g.94261252G>T, NM_001190462.2:c.253G>A, NM_001190462.2:c.253G>T, NM_001190462.1:c.253G>A, NM_001190462.1:c.253G>T, NP_001177391.1:p.Ala85Thr, NP_001177391.1:p.Ala85Ser

Select item 148823406520.

rs1488234065 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:94528383 (GRCh38)
11:94261549 (GRCh37)
Canonical SPDI:: NC_000011.10:94528382:C:T
Gene:: C11orf97 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000546/1 (Korea1K)
T=0.000684/2 (KOREAN)
HGVS:: NC_000011.10:g.94528383C>T, NC_000011.9:g.94261549C>T

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