SNP Links for Gene (Select 10193) - SNP

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 12:56219199 (GRCh38)
12:56612983 (GRCh37)
Canonical SPDI:: NC_000012.12:56219197:TAT:T
Gene:: RNF41 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.000022/3 (GnomAD)
HGVS:: NC_000012.12:g.56219199_56219200del, NC_000012.11:g.56612983_56612984del

Select item 14911370947.

rs1491137094 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G,GG,GGG [Show Flanks]
Chromosome:: 12:56205567 (GRCh38)
12:56599352 (GRCh37)
Canonical SPDI:: NC_000012.12:56205567:G:GG,NC_000012.12:56205567:G:GGG,NC_000012.12:56205567:G:GGGG
Gene:: RNF41 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGG=0./0 (ALFA)
GGG=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.56205568dup, NC_000012.12:g.56205568_56205569insGG, NC_000012.12:g.56205568_56205569insGGG, NC_000012.11:g.56599352dup, NC_000012.11:g.56599352_56599353insGG, NC_000012.11:g.56599352_56599353insGGG, NM_005785.4:c.*879dup, NM_005785.4:c.*879_*880insCC, NM_005785.4:c.*879_*880insCCC, NM_005785.3:c.*879dup, NM_005785.3:c.*879_*880insCC, NM_005785.3:c.*879_*880insCCC, NM_194358.3:c.*879dup, NM_194358.3:c.*879_*880insCC, NM_194358.3:c.*879_*880insCCC, NM_194358.2:c.*879dup, NM_194358.2:c.*879_*880insCC, NM_194358.2:c.*879_*880insCCC, NR_040053.2:n.2490dup, NR_040053.2:n.2490_2491insCC, NR_040053.2:n.2490_2491insCCC, NR_040053.1:n.2499dup, NR_040053.1:n.2499_2500insCC, NR_040053.1:n.2499_2500insCCC, NM_001242826.2:c.*879dup, NM_001242826.2:c.*879_*880insCC, NM_001242826.2:c.*879_*880insCCC, NM_001242826.1:c.*879dup, NM_001242826.1:c.*879_*880insCC, NM_001242826.1:c.*879_*880insCCC, NM_194359.2:c.*879dup, NM_194359.2:c.*879_*880insCC, NM_194359.2:c.*879_*880insCCC

Select item 14911314458.

rs1491131445 has merged into rs60851148 [Homo sapiens]

Variant type:: DELINS
Alleles:: AATAAATAAATAAATA>-,AATA,AATAAATA,AATAAATAAATA,AATAAATAAATAAATAAATA,AATAAATAAATAAATAAATAAATA,AATAAATAAATAAATAAATAAATAAATA,AATAAATAAATAAATAAATAAATAAATAAATA,AATAAATAAATAAATAAATAAATAAATAAATAAATA [Show Flanks]
Chromosome:: 12:56220044 (GRCh38)
12:56613828 (GRCh37)
Canonical SPDI:: NC_000012.12:56220018:AAATAAATAAATAAATAAATAAATAAATAAATAAATAAATA:AAATAAATAAATAAATAAATAAATA,NC_000012.12:56220018:AAATAAATAAATAAATAAATAAATAAATAAATAAATAAATA:AAATAAATAAATAAATAAATAAATAAATA,NC_000012.12:56220018:AAATAAATAAATAAATAAATAAATAAATAAATAAATAAATA:AAATAAATAAATAAATAAATAAATAAATAAATA,NC_000012.12:56220018:AAATAAATAAATAAATAAATAAATAAATAAATAAATAAATA:AAATAAATAAATAAATAAATAAATAAATAAATAAATA,NC_000012.12:56220018:AAATAAATAAATAAATAAATAAATAAATAAATAAATAAATA:AAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATA,NC_000012.12:56220018:AAATAAATAAATAAATAAATAAATAAATAAATAAATAAATA:AAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATA,NC_000012.12:56220018:AAATAAATAAATAAATAAATAAATAAATAAATAAATAAATA:AAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATA,NC_000012.12:56220018:AAATAAATAAATAAATAAATAAATAAATAAATAAATAAATA:AAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATA,NC_000012.12:56220018:AAATAAATAAATAAATAAATAAATAAATAAATAAATAAATA:AAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATA
Gene:: RNF41 (Varview), NABP2 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATA=0./0 (ALFA)
-=0.3417/1711 (1000Genomes)
HGVS:: NC_000012.12:g.56220020AATA[6], NC_000012.12:g.56220020AATA[7], NC_000012.12:g.56220020AATA[8], NC_000012.12:g.56220020AATA[9], NC_000012.12:g.56220020AATA[11], NC_000012.12:g.56220020AATA[12], NC_000012.12:g.56220020AATA[13], NC_000012.12:g.56220020AATA[14], NC_000012.12:g.56220020AATA[15], NC_000012.11:g.56613804AATA[6], NC_000012.11:g.56613804AATA[7], NC_000012.11:g.56613804AATA[8], NC_000012.11:g.56613804AATA[9], NC_000012.11:g.56613804AATA[11], NC_000012.11:g.56613804AATA[12], NC_000012.11:g.56613804AATA[13], NC_000012.11:g.56613804AATA[14], NC_000012.11:g.56613804AATA[15]

Select item 14908805559.

rs1490880555 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:56211667 (GRCh38)
12:56605451 (GRCh37)
Canonical SPDI:: NC_000012.12:56211666:C:A
Gene:: RNF41 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.56211667C>A, NC_000012.11:g.56605451C>A

Select item 149081631510.

rs1490816315 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:56206509 (GRCh38)
12:56600293 (GRCh37)
Canonical SPDI:: NC_000012.12:56206508:C:T
Gene:: RNF41 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.56206509C>T, NC_000012.11:g.56600293C>T, NM_005785.4:c.892G>A, NM_005785.3:c.892G>A, NM_194358.3:c.679G>A, NM_194358.2:c.679G>A, NR_040053.2:n.1549G>A, NR_040053.1:n.1558G>A, NM_001242826.2:c.892G>A, NM_001242826.1:c.892G>A, NM_194359.2:c.892G>A, NP_005776.1:p.Asp298Asn, NP_919339.1:p.Asp227Asn, NP_001229755.1:p.Asp298Asn, NP_919340.1:p.Asp298Asn

Select item 149077937111.

rs1490779371 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:56205195 (GRCh38)
12:56598979 (GRCh37)
Canonical SPDI:: NC_000012.12:56205194:C:G
Gene:: RNF41 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.56205195C>G, NC_000012.11:g.56598979C>G, NM_005785.4:c.*1252G>C, NM_005785.3:c.*1252G>C, NM_194358.3:c.*1252G>C, NM_194358.2:c.*1252G>C, NR_040053.2:n.2863G>C, NR_040053.1:n.2872G>C, NM_001242826.2:c.*1252G>C, NM_001242826.1:c.*1252G>C, NM_194359.2:c.*1252G>C

Select item 149064972312.

rs1490649723 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:56213156 (GRCh38)
12:56606940 (GRCh37)
Canonical SPDI:: NC_000012.12:56213155:G:C
Gene:: RNF41 (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_000012.12:g.56213156G>C, NC_000012.11:g.56606940G>C

Select item 149054008913.

rs1490540089 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:56206060 (GRCh38)
12:56599844 (GRCh37)
Canonical SPDI:: NC_000012.12:56206059:T:C
Gene:: RNF41 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.56206060T>C, NC_000012.11:g.56599844T>C, NM_005785.4:c.*387A>G, NM_005785.3:c.*387A>G, NM_194358.3:c.*387A>G, NM_194358.2:c.*387A>G, NR_040053.2:n.1998A>G, NR_040053.1:n.2007A>G, NM_001242826.2:c.*387A>G, NM_001242826.1:c.*387A>G, NM_194359.2:c.*387A>G

Select item 149053139314.

rs1490531393 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:56220664 (GRCh38)
12:56614448 (GRCh37)
Canonical SPDI:: NC_000012.12:56220663:G:C
Gene:: RNF41 (Varview), NABP2 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000012.12:g.56220664G>C, NC_000012.11:g.56614448G>C

Select item 149043446715.

rs1490434467 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:56210915 (GRCh38)
12:56604699 (GRCh37)
Canonical SPDI:: NC_000012.12:56210914:A:G
Gene:: RNF41 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000012.12:g.56210915A>G, NC_000012.11:g.56604699A>G

Select item 149006161516.

rs1490061615 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 12:56210632 (GRCh38)
12:56604416 (GRCh37)
Canonical SPDI:: NC_000012.12:56210631:G:
Gene:: RNF41 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: -=0.00006/2 (GnomAD)
HGVS:: NC_000012.12:g.56210632del, NC_000012.11:g.56604416del

Select item 148992815317.

rs1489928153 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:56218390 (GRCh38)
12:56612174 (GRCh37)
Canonical SPDI:: NC_000012.12:56218389:A:G
Gene:: RNF41 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00068/2 (KOREAN)
HGVS:: NC_000012.12:g.56218390A>G, NC_000012.11:g.56612174A>G

Select item 148990935818.

rs1489909358 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:56207425 (GRCh38)
12:56601209 (GRCh37)
Canonical SPDI:: NC_000012.12:56207424:G:T
Gene:: RNF41 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000012.12:g.56207425G>T, NC_000012.11:g.56601209G>T

Select item 148989237519.

rs1489892375 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 12:56209477 (GRCh38)
12:56603261 (GRCh37)
Canonical SPDI:: NC_000012.12:56209476:A:T
Gene:: RNF41 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.0002/3 (ALFA)
HGVS:: NC_000012.12:g.56209477A>T, NC_000012.11:g.56603261A>T

Select item 148956144520.

rs1489561445 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:56203755 (GRCh38)
12:56597539 (GRCh37)
Canonical SPDI:: NC_000012.12:56203754:G:A
Gene:: RNF41 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000008/1 (GnomAD)
HGVS:: NC_000012.12:g.56203755G>A, NC_000012.11:g.56597539G>A, NM_005785.4:c.*2692C>T, NM_005785.3:c.*2692C>T, NM_194358.3:c.*2692C>T, NM_194358.2:c.*2692C>T, NR_040053.2:n.4303C>T, NR_040053.1:n.4312C>T, NM_001242826.2:c.*2692C>T, NM_001242826.1:c.*2692C>T, NM_194359.2:c.*2692C>T

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