SNP Links for Gene (Select 64708) - SNP

Select item 14915879131.

rs1491587913 has merged into rs1031515713 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTTT [Show Flanks]
Chromosome:: 2:231805437 (GRCh38)
2:232670147 (GRCh37)
Canonical SPDI:: NC_000002.12:231805431:TTTTTTTTT:TTTTT,NC_000002.12:231805431:TTTTTTTTT:TTTTTT,NC_000002.12:231805431:TTTTTTTTT:TTTTTTT,NC_000002.12:231805431:TTTTTTTTT:TTTTTTTT,NC_000002.12:231805431:TTTTTTTTT:TTTTTTTTTT,NC_000002.12:231805431:TTTTTTTTT:TTTTTTTTTTT,NC_000002.12:231805431:TTTTTTTTT:TTTTTTTTTTTTT
Gene:: COPS7B (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.069083/122 (Korea1K)
HGVS:: NC_000002.12:g.231805437_231805440del, NC_000002.12:g.231805438_231805440del, NC_000002.12:g.231805439_231805440del, NC_000002.12:g.231805440del, NC_000002.12:g.231805440dup, NC_000002.12:g.231805439_231805440dup, NC_000002.12:g.231805437_231805440dup, NC_000002.11:g.232670147_232670150del, NC_000002.11:g.232670148_232670150del, NC_000002.11:g.232670149_232670150del, NC_000002.11:g.232670150del, NC_000002.11:g.232670150dup, NC_000002.11:g.232670149_232670150dup, NC_000002.11:g.232670147_232670150dup

Select item 14915601082.

rs1491560108 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AT [Show Flanks]
Chromosome:: 2:231805444 (GRCh38)
2:232670155 (GRCh37)
Canonical SPDI:: NC_000002.12:231805444:T:TAT
Gene:: COPS7B (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TAT=0.00624/74 (ALFA)
HGVS:: NC_000002.12:g.231805445_231805446insAT, NC_000002.11:g.232670155_232670156insAT

Select item 14915189353.

rs1491518935 has merged into rs993169995 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTTT [Show Flanks]
Chromosome:: 2:231805446 (GRCh38)
2:232670156 (GRCh37)
Canonical SPDI:: NC_000002.12:231805443:TTTT:TT,NC_000002.12:231805443:TTTT:TTT,NC_000002.12:231805443:TTTT:TTTTTT
Gene:: COPS7B (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTT=0./0 (ALFA)
-=0.00004/1 (TOMMO)
HGVS:: NC_000002.12:g.231805446_231805447del, NC_000002.12:g.231805447del, NC_000002.12:g.231805446_231805447dup, NC_000002.11:g.232670156_232670157del, NC_000002.11:g.232670157del, NC_000002.11:g.232670156_232670157dup

Select item 14914402634.

rs1491440263 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATATT,ATATTT,ATT,ATTT [Show Flanks]
Chromosome:: 2:231805431 (GRCh38)
2:232670142 (GRCh37)
Canonical SPDI:: NC_000002.12:231805431:T:TATATT,NC_000002.12:231805431:T:TATATTT,NC_000002.12:231805431:T:TATT,NC_000002.12:231805431:T:TATTT
Gene:: COPS7B (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATTT=0./0 (ALFA)
HGVS:: NC_000002.12:g.231805432TA[2]TT[1], NC_000002.12:g.231805432TA[2]TTT[1], NC_000002.12:g.231805432_231805433insATT, NC_000002.12:g.231805432_231805433insATTT, NC_000002.11:g.232670142TA[2]TT[1], NC_000002.11:g.232670142TA[2]TTT[1], NC_000002.11:g.232670142_232670143insATT, NC_000002.11:g.232670142_232670143insATTT

Select item 14913175895.

rs1491317589 has merged into rs146155668 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGG>-,G,GG,GGGG,GGGGG [Show Flanks]
Chromosome:: 2:231808797 (GRCh38)
2:232673507 (GRCh37)
Canonical SPDI:: NC_000002.12:231808795:GGGG:G,NC_000002.12:231808795:GGGG:GG,NC_000002.12:231808795:GGGG:GGG,NC_000002.12:231808795:GGGG:GGGGG,NC_000002.12:231808795:GGGG:GGGGGG
Gene:: COPS7B (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
-=0.03083/457 (TOMMO)
-=0.04795/77 (Korea1K)
HGVS:: NC_000002.12:g.231808797_231808799del, NC_000002.12:g.231808798_231808799del, NC_000002.12:g.231808799del, NC_000002.12:g.231808799dup, NC_000002.12:g.231808798_231808799dup, NC_000002.11:g.232673507_232673509del, NC_000002.11:g.232673508_232673509del, NC_000002.11:g.232673509del, NC_000002.11:g.232673509dup, NC_000002.11:g.232673508_232673509dup, NM_022730.4:c.*1152_*1154del, NM_022730.4:c.*1153_*1154del, NM_022730.4:c.*1154del, NM_022730.4:c.*1154dup, NM_022730.4:c.*1153_*1154dup, NM_022730.3:c.*1152_*1154del, NM_022730.3:c.*1153_*1154del, NM_022730.3:c.*1154del, NM_022730.3:c.*1154dup, NM_022730.3:c.*1153_*1154dup, NM_022730.2:c.*1152_*1154del, NM_022730.2:c.*1153_*1154del, NM_022730.2:c.*1154del, NM_022730.2:c.*1154dup, NM_022730.2:c.*1153_*1154dup, XM_011511638.3:c.*1178_*1180del, XM_011511638.3:c.*1179_*1180del, XM_011511638.3:c.*1180del, XM_011511638.3:c.*1180dup, XM_011511638.3:c.*1179_*1180dup, XM_011511638.2:c.*1178_*1180del, XM_011511638.2:c.*1179_*1180del, XM_011511638.2:c.*1180del, XM_011511638.2:c.*1180dup, XM_011511638.2:c.*1179_*1180dup, XM_011511638.1:c.*1178_*1180del, XM_011511638.1:c.*1179_*1180del, XM_011511638.1:c.*1180del, XM_011511638.1:c.*1180dup, XM_011511638.1:c.*1179_*1180dup, XR_001738900.3:n.2244_2246del, XR_001738900.3:n.2245_2246del, XR_001738900.3:n.2246del, XR_001738900.3:n.2246dup, XR_001738900.3:n.2245_2246dup, XR_001738900.1:n.2253_2255del, XR_001738900.1:n.2254_2255del, XR_001738900.1:n.2255del, XR_001738900.1:n.2255dup, XR_001738900.1:n.2254_2255dup, XM_006712693.3:c.*1178_*1180del, XM_006712693.3:c.*1179_*1180del, XM_006712693.3:c.*1180del, XM_006712693.3:c.*1180dup, XM_006712693.3:c.*1179_*1180dup, XM_006712693.2:c.*1178_*1180del, XM_006712693.2:c.*1179_*1180del, XM_006712693.2:c.*1180del, XM_006712693.2:c.*1180dup, XM_006712693.2:c.*1179_*1180dup, XM_006712693.1:c.*1178_*1180del, XM_006712693.1:c.*1179_*1180del, XM_006712693.1:c.*1180del, XM_006712693.1:c.*1180dup, XM_006712693.1:c.*1179_*1180dup, NM_001282950.3:c.*1178_*1180del, NM_001282950.3:c.*1179_*1180del, NM_001282950.3:c.*1180del, NM_001282950.3:c.*1180dup, NM_001282950.3:c.*1179_*1180dup, NM_001282950.2:c.*1178_*1180del, NM_001282950.2:c.*1179_*1180del, NM_001282950.2:c.*1180del, NM_001282950.2:c.*1180dup, NM_001282950.2:c.*1179_*1180dup, NM_001282950.1:c.*1178_*1180del, NM_001282950.1:c.*1179_*1180del, NM_001282950.1:c.*1180del, NM_001282950.1:c.*1180dup, NM_001282950.1:c.*1179_*1180dup, NM_001282952.3:c.*1152_*1154del, NM_001282952.3:c.*1153_*1154del, NM_001282952.3:c.*1154del, NM_001282952.3:c.*1154dup, NM_001282952.3:c.*1153_*1154dup, NM_001282952.2:c.*1152_*1154del, NM_001282952.2:c.*1153_*1154del, NM_001282952.2:c.*1154del, NM_001282952.2:c.*1154dup, NM_001282952.2:c.*1153_*1154dup, NM_001282952.1:c.*1152_*1154del, NM_001282952.1:c.*1153_*1154del, NM_001282952.1:c.*1154del, NM_001282952.1:c.*1154dup, NM_001282952.1:c.*1153_*1154dup, NM_001282951.3:c.*1152_*1154del, NM_001282951.3:c.*1153_*1154del, NM_001282951.3:c.*1154del, NM_001282951.3:c.*1154dup, NM_001282951.3:c.*1153_*1154dup, NM_001282951.2:c.*1152_*1154del, NM_001282951.2:c.*1153_*1154del, NM_001282951.2:c.*1154del, NM_001282951.2:c.*1154dup, NM_001282951.2:c.*1153_*1154dup, NM_001282951.1:c.*1152_*1154del, NM_001282951.1:c.*1153_*1154del, NM_001282951.1:c.*1154del, NM_001282951.1:c.*1154dup, NM_001282951.1:c.*1153_*1154dup, NM_001282949.3:c.*1152_*1154del, NM_001282949.3:c.*1153_*1154del, NM_001282949.3:c.*1154del, NM_001282949.3:c.*1154dup, NM_001282949.3:c.*1153_*1154dup, NM_001282949.2:c.*1152_*1154del, NM_001282949.2:c.*1153_*1154del, NM_001282949.2:c.*1154del, NM_001282949.2:c.*1154dup, NM_001282949.2:c.*1153_*1154dup, NM_001282949.1:c.*1152_*1154del, NM_001282949.1:c.*1153_*1154del, NM_001282949.1:c.*1154del, NM_001282949.1:c.*1154dup, NM_001282949.1:c.*1153_*1154dup, NM_001308381.2:c.*1178_*1180del, NM_001308381.2:c.*1179_*1180del, NM_001308381.2:c.*1180del, NM_001308381.2:c.*1180dup, NM_001308381.2:c.*1179_*1180dup, NM_001308381.1:c.*1178_*1180del, NM_001308381.1:c.*1179_*1180del, NM_001308381.1:c.*1180del, NM_001308381.1:c.*1180dup, NM_001308381.1:c.*1179_*1180dup, XR_007080108.1:n.2229_2231del, XR_007080108.1:n.2230_2231del, XR_007080108.1:n.2231del, XR_007080108.1:n.2231dup, XR_007080108.1:n.2230_2231dup, NM_001369483.1:c.*1152_*1154del, NM_001369483.1:c.*1153_*1154del, NM_001369483.1:c.*1154del, NM_001369483.1:c.*1154dup, NM_001369483.1:c.*1153_*1154dup, XM_047445434.1:c.*1178_*1180del, XM_047445434.1:c.*1179_*1180del, XM_047445434.1:c.*1180del, XM_047445434.1:c.*1180dup, XM_047445434.1:c.*1179_*1180dup

Select item 14912641686.

rs1491264168 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TG,TGTG,TGTGTG,TGTGTGTG,TGTGTGTGTG,TGTGTGTGTGTGTG [Show Flanks]
Chromosome:: 2:231808796 (GRCh38)
2:232673507 (GRCh37)
Canonical SPDI:: NC_000002.12:231808796:G:GTG,NC_000002.12:231808796:G:GTGTG,NC_000002.12:231808796:G:GTGTGTG,NC_000002.12:231808796:G:GTGTGTGTG,NC_000002.12:231808796:G:GTGTGTGTGTG,NC_000002.12:231808796:G:GTGTGTGTGTGTGTG
Gene:: COPS7B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: GTGTG=0./0 (ALFA)
GTGTGTGTGT=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.231808797_231808798insTG, NC_000002.12:g.231808797_231808798insTGTG, NC_000002.12:g.231808798TG[3], NC_000002.12:g.231808798TG[4], NC_000002.12:g.231808798TG[5], NC_000002.12:g.231808798TG[7], NC_000002.11:g.232673507_232673508insTG, NC_000002.11:g.232673507_232673508insTGTG, NC_000002.11:g.232673508TG[3], NC_000002.11:g.232673508TG[4], NC_000002.11:g.232673508TG[5], NC_000002.11:g.232673508TG[7], NM_022730.4:c.*1152_*1153insTG, NM_022730.4:c.*1152_*1153insTGTG, NM_022730.4:c.*1153TG[3], NM_022730.4:c.*1153TG[4], NM_022730.4:c.*1153TG[5], NM_022730.4:c.*1153TG[7], NM_022730.3:c.*1152_*1153insTG, NM_022730.3:c.*1152_*1153insTGTG, NM_022730.3:c.*1153TG[3], NM_022730.3:c.*1153TG[4], NM_022730.3:c.*1153TG[5], NM_022730.3:c.*1153TG[7], NM_022730.2:c.*1152_*1153insTG, NM_022730.2:c.*1152_*1153insTGTG, NM_022730.2:c.*1153TG[3], NM_022730.2:c.*1153TG[4], NM_022730.2:c.*1153TG[5], NM_022730.2:c.*1153TG[7], XM_011511638.3:c.*1178_*1179insTG, XM_011511638.3:c.*1178_*1179insTGTG, XM_011511638.3:c.*1179TG[3], XM_011511638.3:c.*1179TG[4], XM_011511638.3:c.*1179TG[5], XM_011511638.3:c.*1179TG[7], XM_011511638.2:c.*1178_*1179insTG, XM_011511638.2:c.*1178_*1179insTGTG, XM_011511638.2:c.*1179TG[3], XM_011511638.2:c.*1179TG[4], XM_011511638.2:c.*1179TG[5], XM_011511638.2:c.*1179TG[7], XM_011511638.1:c.*1178_*1179insTG, XM_011511638.1:c.*1178_*1179insTGTG, XM_011511638.1:c.*1179TG[3], XM_011511638.1:c.*1179TG[4], XM_011511638.1:c.*1179TG[5], XM_011511638.1:c.*1179TG[7], XR_001738900.3:n.2244_2245insTG, XR_001738900.3:n.2244_2245insTGTG, XR_001738900.3:n.2245TG[3], XR_001738900.3:n.2245TG[4], XR_001738900.3:n.2245TG[5], XR_001738900.3:n.2245TG[7], XR_001738900.1:n.2253_2254insTG, XR_001738900.1:n.2253_2254insTGTG, XR_001738900.1:n.2254TG[3], XR_001738900.1:n.2254TG[4], XR_001738900.1:n.2254TG[5], XR_001738900.1:n.2254TG[7], XM_006712693.3:c.*1178_*1179insTG, XM_006712693.3:c.*1178_*1179insTGTG, XM_006712693.3:c.*1179TG[3], XM_006712693.3:c.*1179TG[4], XM_006712693.3:c.*1179TG[5], XM_006712693.3:c.*1179TG[7], XM_006712693.2:c.*1178_*1179insTG, XM_006712693.2:c.*1178_*1179insTGTG, XM_006712693.2:c.*1179TG[3], XM_006712693.2:c.*1179TG[4], XM_006712693.2:c.*1179TG[5], XM_006712693.2:c.*1179TG[7], XM_006712693.1:c.*1178_*1179insTG, XM_006712693.1:c.*1178_*1179insTGTG, XM_006712693.1:c.*1179TG[3], XM_006712693.1:c.*1179TG[4], XM_006712693.1:c.*1179TG[5], XM_006712693.1:c.*1179TG[7], NM_001282950.3:c.*1178_*1179insTG, NM_001282950.3:c.*1178_*1179insTGTG, NM_001282950.3:c.*1179TG[3], NM_001282950.3:c.*1179TG[4], NM_001282950.3:c.*1179TG[5], NM_001282950.3:c.*1179TG[7], NM_001282950.2:c.*1178_*1179insTG, NM_001282950.2:c.*1178_*1179insTGTG, NM_001282950.2:c.*1179TG[3], NM_001282950.2:c.*1179TG[4], NM_001282950.2:c.*1179TG[5], NM_001282950.2:c.*1179TG[7], NM_001282950.1:c.*1178_*1179insTG, NM_001282950.1:c.*1178_*1179insTGTG, NM_001282950.1:c.*1179TG[3], NM_001282950.1:c.*1179TG[4], NM_001282950.1:c.*1179TG[5], NM_001282950.1:c.*1179TG[7], NM_001282952.3:c.*1152_*1153insTG, NM_001282952.3:c.*1152_*1153insTGTG, NM_001282952.3:c.*1153TG[3], NM_001282952.3:c.*1153TG[4], NM_001282952.3:c.*1153TG[5], NM_001282952.3:c.*1153TG[7], NM_001282952.2:c.*1152_*1153insTG, NM_001282952.2:c.*1152_*1153insTGTG, NM_001282952.2:c.*1153TG[3], NM_001282952.2:c.*1153TG[4], NM_001282952.2:c.*1153TG[5], NM_001282952.2:c.*1153TG[7], NM_001282952.1:c.*1152_*1153insTG, NM_001282952.1:c.*1152_*1153insTGTG, NM_001282952.1:c.*1153TG[3], NM_001282952.1:c.*1153TG[4], NM_001282952.1:c.*1153TG[5], NM_001282952.1:c.*1153TG[7], NM_001282951.3:c.*1152_*1153insTG, NM_001282951.3:c.*1152_*1153insTGTG, NM_001282951.3:c.*1153TG[3], NM_001282951.3:c.*1153TG[4], NM_001282951.3:c.*1153TG[5], NM_001282951.3:c.*1153TG[7], NM_001282951.2:c.*1152_*1153insTG, NM_001282951.2:c.*1152_*1153insTGTG, NM_001282951.2:c.*1153TG[3], NM_001282951.2:c.*1153TG[4], NM_001282951.2:c.*1153TG[5], NM_001282951.2:c.*1153TG[7], NM_001282951.1:c.*1152_*1153insTG, NM_001282951.1:c.*1152_*1153insTGTG, NM_001282951.1:c.*1153TG[3], NM_001282951.1:c.*1153TG[4], NM_001282951.1:c.*1153TG[5], NM_001282951.1:c.*1153TG[7], NM_001282949.3:c.*1152_*1153insTG, NM_001282949.3:c.*1152_*1153insTGTG, NM_001282949.3:c.*1153TG[3], NM_001282949.3:c.*1153TG[4], NM_001282949.3:c.*1153TG[5], NM_001282949.3:c.*1153TG[7], NM_001282949.2:c.*1152_*1153insTG, NM_001282949.2:c.*1152_*1153insTGTG, NM_001282949.2:c.*1153TG[3], NM_001282949.2:c.*1153TG[4], NM_001282949.2:c.*1153TG[5], NM_001282949.2:c.*1153TG[7], NM_001282949.1:c.*1152_*1153insTG, NM_001282949.1:c.*1152_*1153insTGTG, NM_001282949.1:c.*1153TG[3], NM_001282949.1:c.*1153TG[4], NM_001282949.1:c.*1153TG[5], NM_001282949.1:c.*1153TG[7], NM_001308381.2:c.*1178_*1179insTG, NM_001308381.2:c.*1178_*1179insTGTG, NM_001308381.2:c.*1179TG[3], NM_001308381.2:c.*1179TG[4], NM_001308381.2:c.*1179TG[5], NM_001308381.2:c.*1179TG[7], NM_001308381.1:c.*1178_*1179insTG, NM_001308381.1:c.*1178_*1179insTGTG, NM_001308381.1:c.*1179TG[3], NM_001308381.1:c.*1179TG[4], NM_001308381.1:c.*1179TG[5], NM_001308381.1:c.*1179TG[7], XR_007080108.1:n.2229_2230insTG, XR_007080108.1:n.2229_2230insTGTG, XR_007080108.1:n.2230TG[3], XR_007080108.1:n.2230TG[4], XR_007080108.1:n.2230TG[5], XR_007080108.1:n.2230TG[7], NM_001369483.1:c.*1152_*1153insTG, NM_001369483.1:c.*1152_*1153insTGTG, NM_001369483.1:c.*1153TG[3], NM_001369483.1:c.*1153TG[4], NM_001369483.1:c.*1153TG[5], NM_001369483.1:c.*1153TG[7], XM_047445434.1:c.*1178_*1179insTG, XM_047445434.1:c.*1178_*1179insTGTG, XM_047445434.1:c.*1179TG[3], XM_047445434.1:c.*1179TG[4], XM_047445434.1:c.*1179TG[5], XM_047445434.1:c.*1179TG[7]

Select item 14911378367.

rs1491137836 [Homo sapiens]

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

Select item 14910924598.

rs1491092459 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: 2:231808843 (GRCh38)
2:232673553 (GRCh37)
Canonical SPDI:: NC_000002.12:231808841:TTT:T
Gene:: COPS7B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.080341/953 (ALFA)
-=0.05/2 (GENOME_DK)
-=0.054155/905 (TOMMO)
-=0.057692/33 (NorthernSweden)
-=0.074317/136 (Korea1K)
-=0.079845/9981 (GnomAD)
-=0.09345/468 (1000Genomes)
HGVS:: NC_000002.12:g.231808843_231808844del, NC_000002.11:g.232673553_232673554del, NM_022730.4:c.*1198_*1199del, NM_022730.3:c.*1198_*1199del, NM_022730.2:c.*1198_*1199del, XM_011511638.3:c.*1224_*1225del, XM_011511638.2:c.*1224_*1225del, XM_011511638.1:c.*1224_*1225del, XR_001738900.3:n.2290_2291del, XR_001738900.1:n.2299_2300del, XM_006712693.3:c.*1224_*1225del, XM_006712693.2:c.*1224_*1225del, XM_006712693.1:c.*1224_*1225del, NM_001282950.3:c.*1224_*1225del, NM_001282950.2:c.*1224_*1225del, NM_001282950.1:c.*1224_*1225del, NM_001282952.3:c.*1198_*1199del, NM_001282952.2:c.*1198_*1199del, NM_001282952.1:c.*1198_*1199del, NM_001282951.3:c.*1198_*1199del, NM_001282951.2:c.*1198_*1199del, NM_001282951.1:c.*1198_*1199del, NM_001282949.3:c.*1198_*1199del, NM_001282949.2:c.*1198_*1199del, NM_001282949.1:c.*1198_*1199del, NM_001308381.2:c.*1224_*1225del, NM_001308381.1:c.*1224_*1225del, XR_007080108.1:n.2275_2276del, NM_001369483.1:c.*1198_*1199del, XM_047445434.1:c.*1224_*1225del

Select item 14907976339.

rs1490797633 [Homo sapiens]

Variant type:: DELINS
Alleles:: TAT>- [Show Flanks]
Chromosome:: 2:231804912 (GRCh38)
2:232669622 (GRCh37)
Canonical SPDI:: NC_000002.12:231804907:TTATTAT:TTAT
Gene:: COPS7B (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTAT=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000602/10 (TOMMO)
HGVS:: NC_000002.12:g.231804909TAT[1], NC_000002.11:g.232669619TAT[1]

Select item 149071715610.

rs1490717156 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:231790928 (GRCh38)
2:232655638 (GRCh37)
Canonical SPDI:: NC_000002.12:231790927:C:T
Gene:: COPS7B (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.231790928C>T, NC_000002.11:g.232655638C>T, XM_011511638.3:c.-405C>T, XM_011511638.2:c.-405C>T, XM_011511638.1:c.-405C>T

Select item 149068484911.

rs1490684849 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:231805686 (GRCh38)
2:232670396 (GRCh37)
Canonical SPDI:: NC_000002.12:231805685:A:G
Gene:: COPS7B (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.231805686A>G, NC_000002.11:g.232670396A>G

Select item 149062421812.

rs1490624218 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 2:231800349 (GRCh38)
2:232665059 (GRCh37)
Canonical SPDI:: NC_000002.12:231800348:G:C,NC_000002.12:231800348:G:T
Gene:: COPS7B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
C=0.000035/1 (TOMMO)
HGVS:: NC_000002.12:g.231800349G>C, NC_000002.12:g.231800349G>T, NC_000002.11:g.232665059G>C, NC_000002.11:g.232665059G>T

Select item 149052045713.

rs1490520457 [Homo sapiens]

Variant type:: DEL
Alleles:: ATA>- [Show Flanks]
Chromosome:: 2:231805427 (GRCh38)
2:232670137 (GRCh37)
Canonical SPDI:: NC_000002.12:231805426:ATA:
Gene:: COPS7B (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000337/4 (ALFA)
-=0.000252/30 (GnomAD)
HGVS:: NC_000002.12:g.231805427_231805429del, NC_000002.11:g.232670137_232670139del

Select item 149051265314.

rs1490512653 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:231781403 (GRCh38)
2:232646113 (GRCh37)
Canonical SPDI:: NC_000002.12:231781402:C:A
Gene:: PDE6D (Varview), COPS7B (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.231781403C>A, NC_000002.11:g.232646113C>A, NG_034064.1:g.4925G>T

Select item 149046119215.

rs1490461192 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 2:231780756 (GRCh38)
2:232645466 (GRCh37)
Canonical SPDI:: NC_000002.12:231780755:C:A,NC_000002.12:231780755:C:G
Gene:: PDE6D (Varview), COPS7B (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000002.12:g.231780756C>A, NC_000002.12:g.231780756C>G, NC_000002.11:g.232645466C>A, NC_000002.11:g.232645466C>G, NG_034064.1:g.5572G>T, NG_034064.1:g.5572G>C

Select item 149039358316.

rs1490393583 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:231797925 (GRCh38)
2:232662635 (GRCh37)
Canonical SPDI:: NC_000002.12:231797924:T:C
Gene:: COPS7B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.231797925T>C, NC_000002.11:g.232662635T>C

Select item 149019579417.

rs1490195794 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:231806178 (GRCh38)
2:232670888 (GRCh37)
Canonical SPDI:: NC_000002.12:231806177:A:G
Gene:: COPS7B (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_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_000002.12:g.231806178A>G, NC_000002.11:g.232670888A>G

Select item 149018277518.

rs1490182775 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:231782183 (GRCh38)
2:232646893 (GRCh37)
Canonical SPDI:: NC_000002.12:231782182:G:A
Gene:: PDE6D (Varview), COPS7B (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.231782183G>A, NC_000002.11:g.232646893G>A, NG_034064.1:g.4145C>T

Select item 149008811619.

rs1490088116 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:231799816 (GRCh38)
2:232664526 (GRCh37)
Canonical SPDI:: NC_000002.12:231799815:C:A
Gene:: COPS7B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000002.12:g.231799816C>A, NC_000002.11:g.232664526C>A

Select item 149007230420.

rs1490072304 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:231798638 (GRCh38)
2:232663348 (GRCh37)
Canonical SPDI:: NC_000002.12:231798637:A:G
Gene:: COPS7B (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)
G=0.000035/1 (TOMMO)
HGVS:: NC_000002.12:g.231798638A>G, NC_000002.11:g.232663348A>G

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