SNP Links for Gene (Select 4072) - SNP

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Select item 14915802191.

rs1491580219 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 2:47376255 (GRCh38)
2:47603395 (GRCh37)
Canonical SPDI:: NC_000002.12:47376255::C
Gene:: EPCAM (Varview), MIR559 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.001265/15 (ALFA)
C=0.002053/210 (GnomAD)
HGVS:: NC_000002.12:g.47376255_47376256insC, NC_000002.11:g.47603394_47603395insC, NG_012352.2:g.36093_36094insC

Select item 14915301992.

rs1491530199 has merged into rs777057814 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:47373218 (GRCh38)
2:47600357 (GRCh37)
Canonical SPDI:: NC_000002.12:47373205:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:47373205:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:47373205:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:47373205:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:47373205:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:47373205:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:47373205:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:47373205:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:47373205:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:47373205:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:47373205:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:47373205:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:47373205:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:47373205:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:47373205:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:47373205:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:47373205:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:47373205:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:47373205:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:47373205:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:47373205:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:47373205:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:47373205:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:47373205:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:47373205:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:47373205:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:47373205:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:47373205:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:47373205:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:47373205:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:47373205:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:47373205:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:47373205:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:47373205:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: EPCAM (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
AAA=0.15/6 (GENOME_DK)
HGVS:: NC_000002.12:g.47373218_47373235del, NC_000002.12:g.47373219_47373235del, NC_000002.12:g.47373220_47373235del, NC_000002.12:g.47373221_47373235del, NC_000002.12:g.47373222_47373235del, NC_000002.12:g.47373223_47373235del, NC_000002.12:g.47373224_47373235del, NC_000002.12:g.47373225_47373235del, NC_000002.12:g.47373226_47373235del, NC_000002.12:g.47373227_47373235del, NC_000002.12:g.47373228_47373235del, NC_000002.12:g.47373229_47373235del, NC_000002.12:g.47373230_47373235del, NC_000002.12:g.47373231_47373235del, NC_000002.12:g.47373232_47373235del, NC_000002.12:g.47373233_47373235del, NC_000002.12:g.47373234_47373235del, NC_000002.12:g.47373235del, NC_000002.12:g.47373235dup, NC_000002.12:g.47373234_47373235dup, NC_000002.12:g.47373233_47373235dup, NC_000002.12:g.47373232_47373235dup, NC_000002.12:g.47373231_47373235dup, NC_000002.12:g.47373230_47373235dup, NC_000002.12:g.47373229_47373235dup, NC_000002.12:g.47373228_47373235dup, NC_000002.12:g.47373227_47373235dup, NC_000002.12:g.47373226_47373235dup, NC_000002.12:g.47373224_47373235dup, NC_000002.12:g.47373222_47373235dup, NC_000002.12:g.47373219_47373235dup, NC_000002.12:g.47373208_47373235dup, NC_000002.12:g.47373235_47373236insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.47373206_47373235A[35]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000002.11:g.47600357_47600374del, NC_000002.11:g.47600358_47600374del, NC_000002.11:g.47600359_47600374del, NC_000002.11:g.47600360_47600374del, NC_000002.11:g.47600361_47600374del, NC_000002.11:g.47600362_47600374del, NC_000002.11:g.47600363_47600374del, NC_000002.11:g.47600364_47600374del, NC_000002.11:g.47600365_47600374del, NC_000002.11:g.47600366_47600374del, NC_000002.11:g.47600367_47600374del, NC_000002.11:g.47600368_47600374del, NC_000002.11:g.47600369_47600374del, NC_000002.11:g.47600370_47600374del, NC_000002.11:g.47600371_47600374del, NC_000002.11:g.47600372_47600374del, NC_000002.11:g.47600373_47600374del, NC_000002.11:g.47600374del, NC_000002.11:g.47600374dup, NC_000002.11:g.47600373_47600374dup, NC_000002.11:g.47600372_47600374dup, NC_000002.11:g.47600371_47600374dup, NC_000002.11:g.47600370_47600374dup, NC_000002.11:g.47600369_47600374dup, NC_000002.11:g.47600368_47600374dup, NC_000002.11:g.47600367_47600374dup, NC_000002.11:g.47600366_47600374dup, NC_000002.11:g.47600365_47600374dup, NC_000002.11:g.47600363_47600374dup, NC_000002.11:g.47600361_47600374dup, NC_000002.11:g.47600358_47600374dup, NC_000002.11:g.47600347_47600374dup, NC_000002.11:g.47600374_47600375insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.47600345_47600374A[35]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_012352.2:g.33056_33073del, NG_012352.2:g.33057_33073del, NG_012352.2:g.33058_33073del, NG_012352.2:g.33059_33073del, NG_012352.2:g.33060_33073del, NG_012352.2:g.33061_33073del, NG_012352.2:g.33062_33073del, NG_012352.2:g.33063_33073del, NG_012352.2:g.33064_33073del, NG_012352.2:g.33065_33073del, NG_012352.2:g.33066_33073del, NG_012352.2:g.33067_33073del, NG_012352.2:g.33068_33073del, NG_012352.2:g.33069_33073del, NG_012352.2:g.33070_33073del, NG_012352.2:g.33071_33073del, NG_012352.2:g.33072_33073del, NG_012352.2:g.33073del, NG_012352.2:g.33073dup, NG_012352.2:g.33072_33073dup, NG_012352.2:g.33071_33073dup, NG_012352.2:g.33070_33073dup, NG_012352.2:g.33069_33073dup, NG_012352.2:g.33068_33073dup, NG_012352.2:g.33067_33073dup, NG_012352.2:g.33066_33073dup, NG_012352.2:g.33065_33073dup, NG_012352.2:g.33064_33073dup, NG_012352.2:g.33062_33073dup, NG_012352.2:g.33060_33073dup, NG_012352.2:g.33057_33073dup, NG_012352.2:g.33046_33073dup, NG_012352.2:g.33073_33074insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_012352.2:g.33044_33073A[35]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]

Select item 14914779783.

rs1491477978 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:47381392 (GRCh38)
2:47608531 (GRCh37)
Canonical SPDI:: NC_000002.12:47381391:CA:
Gene:: EPCAM (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00017/2 (ALFA)
HGVS:: NC_000002.12:g.47381392_47381393del, NC_000002.11:g.47608531_47608532del, NG_012352.2:g.41230_41231del

Select item 14914490784.

rs1491449078 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 2:47376254 (GRCh38)
2:47603393 (GRCh37)
Canonical SPDI:: NC_000002.12:47376253:CT:
Gene:: EPCAM (Varview), MIR559 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000008/1 (GnomAD)
HGVS:: NC_000002.12:g.47376254_47376255del, NC_000002.11:g.47603393_47603394del, NG_012352.2:g.36092_36093del

Select item 14914032255.

rs1491403225 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TAA [Show Flanks]
Chromosome:: 2:47373206 (GRCh38)
2:47600346 (GRCh37)
Canonical SPDI:: NC_000002.12:47373206:AA:AATAA
Gene:: EPCAM (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AATAA=0./0 (ALFA)
HGVS:: NC_000002.12:g.47373208_47373209insTAA, NC_000002.11:g.47600347_47600348insTAA, NG_012352.2:g.33046_33047insTAA

Select item 14913958736.

rs1491395873 has merged into rs1225205639 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:47368425 (GRCh38)
2:47595564 (GRCh37)
Canonical SPDI:: NC_000002.12:47368413:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:47368413:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:47368413:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:47368413:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:47368413:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:47368413:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:47368413:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:47368413:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:47368413:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:47368413:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47368413:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47368413:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47368413:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47368413:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47368413:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47368413:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47368413:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47368413:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47368413:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47368413:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47368413:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47368413:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47368413:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47368413:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47368413:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47368413:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47368413:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47368413:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47368413:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47368413:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47368413:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47368413:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47368413:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47368413:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47368413:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47368413:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47368413:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47368413:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47368413:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: EPCAM (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000002.12:g.47368425_47368428del, NC_000002.12:g.47368426_47368428del, NC_000002.12:g.47368427_47368428del, NC_000002.12:g.47368428del, NC_000002.12:g.47368428dup, NC_000002.12:g.47368427_47368428dup, NC_000002.12:g.47368426_47368428dup, NC_000002.12:g.47368425_47368428dup, NC_000002.12:g.47368424_47368428dup, NC_000002.12:g.47368423_47368428dup, NC_000002.12:g.47368422_47368428dup, NC_000002.12:g.47368421_47368428dup, NC_000002.12:g.47368420_47368428dup, NC_000002.12:g.47368419_47368428dup, NC_000002.12:g.47368418_47368428dup, NC_000002.12:g.47368417_47368428dup, NC_000002.12:g.47368416_47368428dup, NC_000002.12:g.47368415_47368428dup, NC_000002.12:g.47368414_47368428dup, NC_000002.12:g.47368428_47368429insTTTTTTTTTTTTTTTT, NC_000002.12:g.47368428_47368429insTTTTTTTTTTTTTTTTT, NC_000002.12:g.47368428_47368429insTTTTTTTTTTTTTTTTTT, NC_000002.12:g.47368428_47368429insTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.47368428_47368429insTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.47368428_47368429insTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.47368428_47368429insTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.47368428_47368429insTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.47368428_47368429insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.47368428_47368429insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.47368428_47368429insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.47368428_47368429insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.47368428_47368429insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.47368428_47368429insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.47368428_47368429insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.47368428_47368429insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.47368428_47368429insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.47368428_47368429insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.47368428_47368429insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.47368428_47368429insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.47595564_47595567del, NC_000002.11:g.47595565_47595567del, NC_000002.11:g.47595566_47595567del, NC_000002.11:g.47595567del, NC_000002.11:g.47595567dup, NC_000002.11:g.47595566_47595567dup, NC_000002.11:g.47595565_47595567dup, NC_000002.11:g.47595564_47595567dup, NC_000002.11:g.47595563_47595567dup, NC_000002.11:g.47595562_47595567dup, NC_000002.11:g.47595561_47595567dup, NC_000002.11:g.47595560_47595567dup, NC_000002.11:g.47595559_47595567dup, NC_000002.11:g.47595558_47595567dup, NC_000002.11:g.47595557_47595567dup, NC_000002.11:g.47595556_47595567dup, NC_000002.11:g.47595555_47595567dup, NC_000002.11:g.47595554_47595567dup, NC_000002.11:g.47595553_47595567dup, NC_000002.11:g.47595567_47595568insTTTTTTTTTTTTTTTT, NC_000002.11:g.47595567_47595568insTTTTTTTTTTTTTTTTT, NC_000002.11:g.47595567_47595568insTTTTTTTTTTTTTTTTTT, NC_000002.11:g.47595567_47595568insTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.47595567_47595568insTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.47595567_47595568insTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.47595567_47595568insTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.47595567_47595568insTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.47595567_47595568insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.47595567_47595568insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.47595567_47595568insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.47595567_47595568insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.47595567_47595568insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.47595567_47595568insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.47595567_47595568insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.47595567_47595568insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.47595567_47595568insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.47595567_47595568insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.47595567_47595568insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.47595567_47595568insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_012352.2:g.28263_28266del, NG_012352.2:g.28264_28266del, NG_012352.2:g.28265_28266del, NG_012352.2:g.28266del, NG_012352.2:g.28266dup, NG_012352.2:g.28265_28266dup, NG_012352.2:g.28264_28266dup, NG_012352.2:g.28263_28266dup, NG_012352.2:g.28262_28266dup, NG_012352.2:g.28261_28266dup, NG_012352.2:g.28260_28266dup, NG_012352.2:g.28259_28266dup, NG_012352.2:g.28258_28266dup, NG_012352.2:g.28257_28266dup, NG_012352.2:g.28256_28266dup, NG_012352.2:g.28255_28266dup, NG_012352.2:g.28254_28266dup, NG_012352.2:g.28253_28266dup, NG_012352.2:g.28252_28266dup, NG_012352.2:g.28266_28267insTTTTTTTTTTTTTTTT, NG_012352.2:g.28266_28267insTTTTTTTTTTTTTTTTT, NG_012352.2:g.28266_28267insTTTTTTTTTTTTTTTTTT, NG_012352.2:g.28266_28267insTTTTTTTTTTTTTTTTTTT, NG_012352.2:g.28266_28267insTTTTTTTTTTTTTTTTTTTT, NG_012352.2:g.28266_28267insTTTTTTTTTTTTTTTTTTTTT, NG_012352.2:g.28266_28267insTTTTTTTTTTTTTTTTTTTTTT, NG_012352.2:g.28266_28267insTTTTTTTTTTTTTTTTTTTTTTT, NG_012352.2:g.28266_28267insTTTTTTTTTTTTTTTTTTTTTTTT, NG_012352.2:g.28266_28267insTTTTTTTTTTTTTTTTTTTTTTTTT, NG_012352.2:g.28266_28267insTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_012352.2:g.28266_28267insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_012352.2:g.28266_28267insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_012352.2:g.28266_28267insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_012352.2:g.28266_28267insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_012352.2:g.28266_28267insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_012352.2:g.28266_28267insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_012352.2:g.28266_28267insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_012352.2:g.28266_28267insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_012352.2:g.28266_28267insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14912338507.

rs1491233850 has merged into rs57201109 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTT>-,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:47376264 (GRCh38)
2:47603403 (GRCh37)
Canonical SPDI:: NC_000002.12:47376254:TTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000002.12:47376254:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:47376254:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:47376254:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:47376254:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:47376254:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:47376254:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:47376254:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:47376254:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47376254:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47376254:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47376254:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47376254:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTT
Gene:: EPCAM (Varview), MIR559 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.47376264_47376272del, NC_000002.12:g.47376268_47376272del, NC_000002.12:g.47376269_47376272del, NC_000002.12:g.47376270_47376272del, NC_000002.12:g.47376271_47376272del, NC_000002.12:g.47376272del, NC_000002.12:g.47376272dup, NC_000002.12:g.47376271_47376272dup, NC_000002.12:g.47376270_47376272dup, NC_000002.12:g.47376269_47376272dup, NC_000002.12:g.47376268_47376272dup, NC_000002.12:g.47376267_47376272dup, NC_000002.12:g.47376255_47376272T[44]CTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.47603403_47603411del, NC_000002.11:g.47603407_47603411del, NC_000002.11:g.47603408_47603411del, NC_000002.11:g.47603409_47603411del, NC_000002.11:g.47603410_47603411del, NC_000002.11:g.47603411del, NC_000002.11:g.47603411dup, NC_000002.11:g.47603410_47603411dup, NC_000002.11:g.47603409_47603411dup, NC_000002.11:g.47603408_47603411dup, NC_000002.11:g.47603407_47603411dup, NC_000002.11:g.47603406_47603411dup, NC_000002.11:g.47603394_47603411T[44]CTTTTTTTTTTTTTTTTTTT[1], NG_012352.2:g.36102_36110del, NG_012352.2:g.36106_36110del, NG_012352.2:g.36107_36110del, NG_012352.2:g.36108_36110del, NG_012352.2:g.36109_36110del, NG_012352.2:g.36110del, NG_012352.2:g.36110dup, NG_012352.2:g.36109_36110dup, NG_012352.2:g.36108_36110dup, NG_012352.2:g.36107_36110dup, NG_012352.2:g.36106_36110dup, NG_012352.2:g.36105_36110dup, NG_012352.2:g.36093_36110T[44]CTTTTTTTTTTTTTTTTTTT[1]

Select item 14909049668.

rs1490904966 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:47380999 (GRCh38)
2:47608138 (GRCh37)
Canonical SPDI:: NC_000002.12:47380998:T:C
Gene:: EPCAM (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000032/4 (GnomAD)
C=0.000035/1 (TOMMO)
HGVS:: NC_000002.12:g.47380999T>C, NC_000002.11:g.47608138T>C, NG_012352.2:g.40837T>C

Select item 14907874229.

rs1490787422 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:47369392 (GRCh38)
2:47596531 (GRCh37)
Canonical SPDI:: NC_000002.12:47369391:C:T
Gene:: EPCAM (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.47369392C>T, NC_000002.11:g.47596531C>T, NG_012352.2:g.29230C>T, NM_002354.3:c.-114C>T, NM_002354.2:c.-114C>T

Select item 149072033710.

rs1490720337 [Homo sapiens]

Variant type:: SNV:
Alleles:: G>T
Chromosome:: no mapping
Canonical SPDI:

Select item 149049587411.

rs1490495874 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:47372780 (GRCh38)
2:47599919 (GRCh37)
Canonical SPDI:: NC_000002.12:47372779:A:C
Gene:: EPCAM (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.47372780A>C, NC_000002.11:g.47599919A>C, NG_012352.2:g.32618A>C

Select item 149046842512.

rs1490468425 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAT>- [Show Flanks]
Chromosome:: 2:47382875 (GRCh38)
2:47610014 (GRCh37)
Canonical SPDI:: NC_000002.12:47382870:TGATGAT:TGAT
Gene:: EPCAM (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGAT=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000019/5 (TOPMED)
HGVS:: NC_000002.12:g.47382872GAT[1], NC_000002.11:g.47610011GAT[1], NG_012352.2:g.42710GAT[1]

Select item 149044077613.

rs1490440776 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:47372104 (GRCh38)
2:47599243 (GRCh37)
Canonical SPDI:: NC_000002.12:47372103:A:T
Gene:: EPCAM (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_000002.12:g.47372104A>T, NC_000002.11:g.47599243A>T, NG_012352.2:g.31942A>T

Select item 149036947314.

rs1490369473 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 2:47380135 (GRCh38)
2:47607274 (GRCh37)
Canonical SPDI:: NC_000002.12:47380134:G:A,NC_000002.12:47380134:G:C,NC_000002.12:47380134:G:T
Gene:: EPCAM (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.47380135G>A, NC_000002.12:g.47380135G>C, NC_000002.12:g.47380135G>T, NC_000002.11:g.47607274G>A, NC_000002.11:g.47607274G>C, NC_000002.11:g.47607274G>T, NG_012352.2:g.39973G>A, NG_012352.2:g.39973G>C, NG_012352.2:g.39973G>T

Select item 149005843715.

rs1490058437 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:47384435 (GRCh38)
2:47611574 (GRCh37)
Canonical SPDI:: NC_000002.12:47384434:A:G
Gene:: EPCAM (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.47384435A>G, NC_000002.11:g.47611574A>G, NG_012352.2:g.44273A>G

Select item 149005577116.

rs1490055771 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:47378627 (GRCh38)
2:47605766 (GRCh37)
Canonical SPDI:: NC_000002.12:47378626:A:T
Gene:: EPCAM (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.47378627A>T, NC_000002.11:g.47605766A>T, NG_012352.2:g.38465A>T

Select item 149004098917.

rs1490040989 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:47378486 (GRCh38)
2:47605625 (GRCh37)
Canonical SPDI:: NC_000002.12:47378485:G:A
Gene:: EPCAM (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.47378486G>A, NC_000002.11:g.47605625G>A, NG_012352.2:g.38324G>A

Select item 149000975818.

rs1490009758 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:47373095 (GRCh38)
2:47600234 (GRCh37)
Canonical SPDI:: NC_000002.12:47373094:C:T
Gene:: EPCAM (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000002.12:g.47373095C>T, NC_000002.11:g.47600234C>T, NG_012352.2:g.32933C>T

Select item 148998205919.

rs1489982059 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:47383190 (GRCh38)
2:47610329 (GRCh37)
Canonical SPDI:: NC_000002.12:47383189:C:T
Gene:: EPCAM (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.47383190C>T, NC_000002.11:g.47610329C>T, NG_012352.2:g.43028C>T

Select item 148996851820.

rs1489968518 [Homo sapiens]

Variant type:: SNV:
Alleles:: A>T
Chromosome:: no mapping
Canonical SPDI:

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