SNP Links for Gene (Select 221687) - SNP

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Select item 14915011751.

rs1491501175 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 6:13946141 (GRCh38)
6:13946372 (GRCh37)
Canonical SPDI:: NC_000006.12:13946140:AT:
Gene:: RNF182 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000006.12:g.13946141_13946142del, NC_000006.11:g.13946372_13946373del

Select item 14914771562.

rs1491477156 has merged into rs59699777 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT [Show Flanks]
Chromosome:: 6:13926798 (GRCh38)
6:13927029 (GRCh37)
Canonical SPDI:: NC_000006.12:13926791:TTTTTTTTTTTTT:TTTTTT,NC_000006.12:13926791:TTTTTTTTTTTTT:TTTTTTTTTT,NC_000006.12:13926791:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000006.12:13926791:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:13926791:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:13926791:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:13926791:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:13926791:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT
Gene:: RNF182 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
T=0.15/6 (GENOME_DK)
T=0.16047/95 (NorthernSweden)
HGVS:: NC_000006.12:g.13926798_13926804del, NC_000006.12:g.13926802_13926804del, NC_000006.12:g.13926803_13926804del, NC_000006.12:g.13926804del, NC_000006.12:g.13926804dup, NC_000006.12:g.13926803_13926804dup, NC_000006.12:g.13926802_13926804dup, NC_000006.12:g.13926801_13926804dup, NC_000006.11:g.13927029_13927035del, NC_000006.11:g.13927033_13927035del, NC_000006.11:g.13927034_13927035del, NC_000006.11:g.13927035del, NC_000006.11:g.13927035dup, NC_000006.11:g.13927034_13927035dup, NC_000006.11:g.13927033_13927035dup, NC_000006.11:g.13927032_13927035dup

Select item 14914508743.

rs1491450874 has merged into rs1311622318 [Homo sapiens]

Variant type:: DELINS
Alleles:: CG>-,CGCACGCGCGCGCG,CGCG,CGCGCG,CGCGCGCG,CGCGCGCGCG,CGCGCGCGCGCG [Show Flanks]
Chromosome:: 6:13960698 (GRCh38)
6:13960929 (GRCh37)
Canonical SPDI:: NC_000006.12:13960692:GCGCGCG:GCGCG,NC_000006.12:13960692:GCGCGCG:GCGCGCGCACGCGCGCGCG,NC_000006.12:13960692:GCGCGCG:GCGCGCGCG,NC_000006.12:13960692:GCGCGCG:GCGCGCGCGCG,NC_000006.12:13960692:GCGCGCG:GCGCGCGCGCGCG,NC_000006.12:13960692:GCGCGCG:GCGCGCGCGCGCGCG,NC_000006.12:13960692:GCGCGCG:GCGCGCGCGCGCGCGCG
Gene:: RNF182 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GCGCGCGCACGCGCGCGCG=0./0 (ALFA)
GCGCGC=0.00329/6 (Korea1K)
GCGCGC=0.00334/2 (NorthernSweden)
HGVS:: NC_000006.12:g.13960694CG[2], NC_000006.12:g.13960693_13960699GC[4]ACGCGCGCGCG[1], NC_000006.12:g.13960694CG[4], NC_000006.12:g.13960694CG[5], NC_000006.12:g.13960694CG[6], NC_000006.12:g.13960694CG[7], NC_000006.12:g.13960694CG[8], NC_000006.11:g.13960925CG[2], NC_000006.11:g.13960924_13960930GC[4]ACGCGCGCGCG[1], NC_000006.11:g.13960925CG[4], NC_000006.11:g.13960925CG[5], NC_000006.11:g.13960925CG[6], NC_000006.11:g.13960925CG[7], NC_000006.11:g.13960925CG[8]

Select item 14914106184.

rs1491410618 has merged into rs1554127193 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGTGT>-,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 6:13966840 (GRCh38)
6:13967071 (GRCh37)
Canonical SPDI:: NC_000006.12:13966831:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGT,NC_000006.12:13966831:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGT,NC_000006.12:13966831:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGT,NC_000006.12:13966831:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGT,NC_000006.12:13966831:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT,NC_000006.12:13966831:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:13966831:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: RNF182 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
GT=0.292423/1127 (ALSPAC)
GT=0.304746/1130 (TWINSUK)
HGVS:: NC_000006.12:g.13966832GT[4], NC_000006.12:g.13966832GT[7], NC_000006.12:g.13966832GT[8], NC_000006.12:g.13966832GT[9], NC_000006.12:g.13966832GT[10], NC_000006.12:g.13966832GT[12], NC_000006.12:g.13966832GT[13], NC_000006.11:g.13967063GT[4], NC_000006.11:g.13967063GT[7], NC_000006.11:g.13967063GT[8], NC_000006.11:g.13967063GT[9], NC_000006.11:g.13967063GT[10], NC_000006.11:g.13967063GT[12], NC_000006.11:g.13967063GT[13]

Select item 14912980595.

rs1491298059 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTTATTATT,GTTATTATT [Show Flanks]
Chromosome:: 6:13946141 (GRCh38)
6:13946373 (GRCh37)
Canonical SPDI:: NC_000006.12:13946141:TTATTATT:TTATTATTCTTATTATT,NC_000006.12:13946141:TTATTATT:TTATTATTGTTATTATT
Gene:: RNF182 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTATTATTGTTATTATT=0.00008/1 (ALFA)
TTATTATTG=0.00134/1 (GnomAD)
HGVS:: NC_000006.12:g.13946142_13946149TTA[2]TTCTTATTATT[1], NC_000006.12:g.13946142_13946149TTA[2]TTGTTATTATT[1], NC_000006.11:g.13946373_13946380TTA[2]TTCTTATTATT[1], NC_000006.11:g.13946373_13946380TTA[2]TTGTTATTATT[1]

Select item 14912492646.

rs1491249264 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 6:13946154 (GRCh38)
6:13946385 (GRCh37)
Canonical SPDI:: NC_000006.12:13946153:TT:
Gene:: RNF182 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.00006/16 (TOPMED)
-=0.001249/8 (1000Genomes)
HGVS:: NC_000006.12:g.13946154_13946155del, NC_000006.11:g.13946385_13946386del

Select item 14912377847.

rs1491237784 has merged into rs34765708 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 6:13950511 (GRCh38)
6:13950742 (GRCh37)
Canonical SPDI:: NC_000006.12:13950498:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:13950498:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:13950498:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:13950498:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:13950498:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:13950498:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:13950498:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000006.12:13950498:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000006.12:13950498:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:13950498:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:13950498:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:13950498:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:13950498:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:13950498:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: RNF182 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
-=0.4002/2004 (1000Genomes)
HGVS:: NC_000006.12:g.13950511_13950517del, NC_000006.12:g.13950512_13950517del, NC_000006.12:g.13950513_13950517del, NC_000006.12:g.13950515_13950517del, NC_000006.12:g.13950516_13950517del, NC_000006.12:g.13950517del, NC_000006.12:g.13950517dup, NC_000006.12:g.13950516_13950517dup, NC_000006.12:g.13950515_13950517dup, NC_000006.12:g.13950514_13950517dup, NC_000006.12:g.13950513_13950517dup, NC_000006.12:g.13950512_13950517dup, NC_000006.12:g.13950511_13950517dup, NC_000006.12:g.13950509_13950517dup, NC_000006.11:g.13950742_13950748del, NC_000006.11:g.13950743_13950748del, NC_000006.11:g.13950744_13950748del, NC_000006.11:g.13950746_13950748del, NC_000006.11:g.13950747_13950748del, NC_000006.11:g.13950748del, NC_000006.11:g.13950748dup, NC_000006.11:g.13950747_13950748dup, NC_000006.11:g.13950746_13950748dup, NC_000006.11:g.13950745_13950748dup, NC_000006.11:g.13950744_13950748dup, NC_000006.11:g.13950743_13950748dup, NC_000006.11:g.13950742_13950748dup, NC_000006.11:g.13950740_13950748dup

Select item 14912208438.

rs1491220843 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 6:13960645 (GRCh38)
6:13960877 (GRCh37)
Canonical SPDI:: NC_000006.12:13960645::A
Gene:: RNF182 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: A=0.00249/11 (Estonian)
A=0.02988/2592 (GnomAD)
A=0.08819/1455 (TOMMO)
A=0.10549/192 (Korea1K)
HGVS:: NC_000006.12:g.13960645_13960646insA, NC_000006.11:g.13960876_13960877insA

Select item 14912096339.

rs1491209633 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AT [Show Flanks]
Chromosome:: 6:13946154 (GRCh38)
6:13946386 (GRCh37)
Canonical SPDI:: NC_000006.12:13946154:TAT:TATAT
Gene:: RNF182 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TATAT=0./0 (ALFA)
HGVS:: NC_000006.12:g.13946156_13946157dup, NC_000006.11:g.13946387_13946388dup

Select item 149101271910.

rs1491012719 [Homo sapiens]

Variant type:: DELINS
Alleles:: AC>- [Show Flanks]
Chromosome:: 6:13966772 (GRCh38)
6:13967003 (GRCh37)
Canonical SPDI:: NC_000006.12:13966770:CAC:C
Gene:: RNF182 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.00008/1 (ALFA)
HGVS:: NC_000006.12:g.13966772_13966773del, NC_000006.11:g.13967003_13967004del

Select item 149094288811.

rs1490942888 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAG>- [Show Flanks]
Chromosome:: 6:13953236 (GRCh38)
6:13953467 (GRCh37)
Canonical SPDI:: NC_000006.12:13953232:AAGAAG:AAG
Gene:: RNF182 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AAGAAG=0./0 (ALFA)
-=0.000015/4 (TOPMED)
HGVS:: NC_000006.12:g.13953233AAG[1], NC_000006.11:g.13953464AAG[1]

Select item 149090868312.

rs1490908683 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:13968602 (GRCh38)
6:13968833 (GRCh37)
Canonical SPDI:: NC_000006.12:13968601:A:G
Gene:: RNF182 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.13968602A>G, NC_000006.11:g.13968833A>G

Select item 149089497313.

rs1490894973 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:13977539 (GRCh38)
6:13977770 (GRCh37)
Canonical SPDI:: NC_000006.12:13977538:C:T
Gene:: RNF182 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000006.12:g.13977539C>T, NC_000006.11:g.13977770C>T, NM_152737.4:c.420C>T, NM_152737.3:c.420C>T, XM_017010450.3:c.420C>T, XM_017010450.2:c.420C>T, XM_017010450.1:c.420C>T, NM_001165032.2:c.420C>T, NM_001165032.1:c.420C>T, NM_001165034.2:c.420C>T, NM_001165034.1:c.420C>T, NM_001165033.2:c.420C>T, NM_001165033.1:c.420C>T, XM_047418370.1:c.420C>T, XM_047418371.1:c.420C>T

Select item 149087795114.

rs1490877951 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:13969492 (GRCh38)
6:13969723 (GRCh37)
Canonical SPDI:: NC_000006.12:13969491:A:G
Gene:: RNF182 (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_000006.12:g.13969492A>G, NC_000006.11:g.13969723A>G

Select item 149084026215.

rs1490840262 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 6:13943542 (GRCh38)
6:13943774 (GRCh37)
Canonical SPDI:: NC_000006.12:13943542:A:AA
Gene:: RNF182 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.00005/7 (GnomAD)
HGVS:: NC_000006.12:g.13943543dup, NC_000006.11:g.13943774dup

Select item 149077364416.

rs1490773644 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:13940980 (GRCh38)
6:13941211 (GRCh37)
Canonical SPDI:: NC_000006.12:13940979:A:G
Gene:: RNF182 (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_000006.12:g.13940980A>G, NC_000006.11:g.13941211A>G

Select item 149069988417.

rs1490699884 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 6:13937228 (GRCh38)
6:13937459 (GRCh37)
Canonical SPDI:: NC_000006.12:13937227:A:G,NC_000006.12:13937227:A:T
Gene:: RNF182 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.13937228A>G, NC_000006.12:g.13937228A>T, NC_000006.11:g.13937459A>G, NC_000006.11:g.13937459A>T

Select item 149054835518.

rs1490548355 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 6:13924179 (GRCh38)
6:13924411 (GRCh37)
Canonical SPDI:: NC_000006.12:13924179:A:AA
Gene:: RNF182 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.13924180dup, NC_000006.11:g.13924411dup

Select item 149053409319.

rs1490534093 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:13923049 (GRCh38)
6:13923280 (GRCh37)
Canonical SPDI:: NC_000006.12:13923048:T:A
Gene:: RNF182 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.13923049T>A, NC_000006.11:g.13923280T>A

Select item 149041604520.

rs1490416045 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:13931414 (GRCh38)
6:13931645 (GRCh37)
Canonical SPDI:: NC_000006.12:13931413:T:C
Gene:: RNF182 (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_000006.12:g.13931414T>C, NC_000006.11:g.13931645T>C

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