SNP Links for Nucleotide (Select 1043261405) - SNP

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Select item 14915681361.

rs1491568136 [Homo sapiens]

Variant type:: DEL
Alleles:: CC>- [Show Flanks]
Chromosome:: 3:155125443 (GRCh38)
3:154843232 (GRCh37)
Canonical SPDI:: NC_000003.12:155125442:CC:
Gene:: MME (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000003.12:g.155125443_155125444del, NC_000003.11:g.154843232_154843233del, NG_051105.1:g.106320_106321del

Select item 14915581892.

rs1491558189 has merged into rs71624557 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTTT [Show Flanks]
Chromosome:: 3:155087262 (GRCh38)
3:154805051 (GRCh37)
Canonical SPDI:: NC_000003.12:155087249:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:155087249:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:155087249:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:155087249:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:155087249:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:155087249:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
Gene:: MME (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000003.12:g.155087262_155087264del, NC_000003.12:g.155087263_155087264del, NC_000003.12:g.155087264del, NC_000003.12:g.155087264dup, NC_000003.12:g.155087263_155087264dup, NC_000003.12:g.155087261_155087264dup, NC_000003.11:g.154805051_154805053del, NC_000003.11:g.154805052_154805053del, NC_000003.11:g.154805053del, NC_000003.11:g.154805053dup, NC_000003.11:g.154805052_154805053dup, NC_000003.11:g.154805050_154805053dup, NG_051105.1:g.68139_68141del, NG_051105.1:g.68140_68141del, NG_051105.1:g.68141del, NG_051105.1:g.68141dup, NG_051105.1:g.68140_68141dup, NG_051105.1:g.68138_68141dup

Select item 14915580993.

rs1491558099 has merged into rs35653282 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTT>-,T,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 3:155140421 (GRCh38)
3:154858210 (GRCh37)
Canonical SPDI:: NC_000003.12:155140410:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000003.12:155140410:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:155140410:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:155140410:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:155140410:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:155140410:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:155140410:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:155140410:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:155140410:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:155140410:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:155140410:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:155140410:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:155140410:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:155140410:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:155140410:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:155140410:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:155140410:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:155140410:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:155140410:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:155140410:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:155140410:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:155140410:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:155140410:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:155140410:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:155140410:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:155140410:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: MME (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
-=0.4986/2497 (1000Genomes)
HGVS:: NC_000003.12:g.155140421_155140434del, NC_000003.12:g.155140422_155140434del, NC_000003.12:g.155140426_155140434del, NC_000003.12:g.155140427_155140434del, NC_000003.12:g.155140428_155140434del, NC_000003.12:g.155140429_155140434del, NC_000003.12:g.155140430_155140434del, NC_000003.12:g.155140431_155140434del, NC_000003.12:g.155140432_155140434del, NC_000003.12:g.155140433_155140434del, NC_000003.12:g.155140434del, NC_000003.12:g.155140434dup, NC_000003.12:g.155140433_155140434dup, NC_000003.12:g.155140432_155140434dup, NC_000003.12:g.155140431_155140434dup, NC_000003.12:g.155140430_155140434dup, NC_000003.12:g.155140429_155140434dup, NC_000003.12:g.155140428_155140434dup, NC_000003.12:g.155140427_155140434dup, NC_000003.12:g.155140426_155140434dup, NC_000003.12:g.155140425_155140434dup, NC_000003.12:g.155140422_155140434dup, NC_000003.12:g.155140418_155140434dup, NC_000003.12:g.155140416_155140434dup, NC_000003.12:g.155140411_155140434dup, NC_000003.12:g.155140434_155140435insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.154858210_154858223del, NC_000003.11:g.154858211_154858223del, NC_000003.11:g.154858215_154858223del, NC_000003.11:g.154858216_154858223del, NC_000003.11:g.154858217_154858223del, NC_000003.11:g.154858218_154858223del, NC_000003.11:g.154858219_154858223del, NC_000003.11:g.154858220_154858223del, NC_000003.11:g.154858221_154858223del, NC_000003.11:g.154858222_154858223del, NC_000003.11:g.154858223del, NC_000003.11:g.154858223dup, NC_000003.11:g.154858222_154858223dup, NC_000003.11:g.154858221_154858223dup, NC_000003.11:g.154858220_154858223dup, NC_000003.11:g.154858219_154858223dup, NC_000003.11:g.154858218_154858223dup, NC_000003.11:g.154858217_154858223dup, NC_000003.11:g.154858216_154858223dup, NC_000003.11:g.154858215_154858223dup, NC_000003.11:g.154858214_154858223dup, NC_000003.11:g.154858211_154858223dup, NC_000003.11:g.154858207_154858223dup, NC_000003.11:g.154858205_154858223dup, NC_000003.11:g.154858200_154858223dup, NC_000003.11:g.154858223_154858224insTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_051105.1:g.121298_121311del, NG_051105.1:g.121299_121311del, NG_051105.1:g.121303_121311del, NG_051105.1:g.121304_121311del, NG_051105.1:g.121305_121311del, NG_051105.1:g.121306_121311del, NG_051105.1:g.121307_121311del, NG_051105.1:g.121308_121311del, NG_051105.1:g.121309_121311del, NG_051105.1:g.121310_121311del, NG_051105.1:g.121311del, NG_051105.1:g.121311dup, NG_051105.1:g.121310_121311dup, NG_051105.1:g.121309_121311dup, NG_051105.1:g.121308_121311dup, NG_051105.1:g.121307_121311dup, NG_051105.1:g.121306_121311dup, NG_051105.1:g.121305_121311dup, NG_051105.1:g.121304_121311dup, NG_051105.1:g.121303_121311dup, NG_051105.1:g.121302_121311dup, NG_051105.1:g.121299_121311dup, NG_051105.1:g.121295_121311dup, NG_051105.1:g.121293_121311dup, NG_051105.1:g.121288_121311dup, NG_051105.1:g.121311_121312insTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14915508944.

rs1491550894 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T [Show Flanks]
Chromosome:: 3:155063551 (GRCh38)
3:154781340 (GRCh37)
Canonical SPDI:: NC_000003.12:155063549:TTT:T,NC_000003.12:155063549:TTT:TT
Gene:: MME (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTT=0./0 (ALFA)
-=0.000028/3 (GnomAD)
-=0.000239/4 (TOMMO)
HGVS:: NC_000003.12:g.155063551_155063552del, NC_000003.12:g.155063552del, NC_000003.11:g.154781340_154781341del, NC_000003.11:g.154781341del, NG_051105.1:g.44428_44429del, NG_051105.1:g.44429del

Select item 14915404475.

rs1491540447 [Homo sapiens]

Variant type:: DEL
Alleles:: GG>- [Show Flanks]
Chromosome:: 3:155045539 (GRCh38)
3:154763328 (GRCh37)
Canonical SPDI:: NC_000003.12:155045538:GG:
Gene:: MME (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.0128/57 (ALFA)
HGVS:: NC_000003.12:g.155045539_155045540del, NC_000003.11:g.154763328_154763329del, NG_051105.1:g.26416_26417del

Select item 14915221686.

rs1491522168 [Homo sapiens]

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

Select item 14915124167.

rs1491512416 [Homo sapiens]

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

Select item 14914082008.

rs1491408200 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 3:155087249 (GRCh38)
3:154805038 (GRCh37)
Canonical SPDI:: NC_000003.12:155087248:GT:
Gene:: MME (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00011/3 (TOMMO)
-=0.00076/47 (GnomAD)
HGVS:: NC_000003.12:g.155087249_155087250del, NC_000003.11:g.154805038_154805039del, NG_051105.1:g.68126_68127del

Select item 14914033889.

rs1491403388 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 3:155029619 (GRCh38)
3:154747408 (GRCh37)
Canonical SPDI:: NC_000003.12:155029617:TCT:T
Gene:: MME (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: -=0.002362/331 (GnomAD)
-=0.002498/16 (1000Genomes)
HGVS:: NC_000003.12:g.155029619_155029620del, NC_000003.11:g.154747408_154747409del, NG_051105.1:g.10496_10497del

Select item 149139909510.

rs1491399095 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 3:155105778 (GRCh38)
3:154823567 (GRCh37)
Canonical SPDI:: NC_000003.12:155105777:TA:
Gene:: MME (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000015/4 (TOPMED)
-=0.000021/3 (GnomAD)
HGVS:: NC_000003.12:g.155105778_155105779del, NC_000003.11:g.154823567_154823568del, NG_051105.1:g.86655_86656del

Select item 149139895711.

rs1491398957 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 3:155063330 (GRCh38)
3:154781119 (GRCh37)
Canonical SPDI:: NC_000003.12:155063322:ATATATATA:ATATATA
Gene:: MME (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATA=0.001096/13 (ALFA)
-=0.001549/155 (GnomAD)
-=0.002498/16 (1000Genomes)
-=0.003455/57 (TOMMO)
HGVS:: NC_000003.12:g.155063324TA[3], NC_000003.11:g.154781113TA[3], NG_051105.1:g.44201TA[3]

Select item 149134710712.

rs1491347107 has merged into rs57585504 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATATATATATATAT>-,AT,ATATATAT,ATATATATAT,ATATATATATAT,ATATATATATATATAT,ATATATATATATATATAT,ATATATATATATATATATAT,ATATATATATATATATATATAT,ATATATATATATATATATATATAT,ATATATATATATATATATATATATAT,ATATATATATATATATATATATATGTATATATATATATATATATATAT,ATATATATATATATATATATGTATATATATATATATATATATAT,ATATATATATATATATATGTATATATATATATATATATATAT,ATATATATATATATATGTATATATATATATATATATAT,ATATATATATATATATGTATATATATATATATATATATAT,ATATATATATATATGTATATATATATATATATATAT,ATATATATATATATGTATATATATATATATATATATAT,ATATATATATATATGTATATATATATATATATATATATAT,ATATATATATATATGTATATATATATATATATATGTATATATATATATATATATATAT [Show Flanks]
Chromosome:: 3:155042946 (GRCh38)
3:154760735 (GRCh37)
Canonical SPDI:: NC_000003.12:155042940:TATATATATATATATATAT:TATAT,NC_000003.12:155042940:TATATATATATATATATAT:TATATAT,NC_000003.12:155042940:TATATATATATATATATAT:TATATATATATAT,NC_000003.12:155042940:TATATATATATATATATAT:TATATATATATATAT,NC_000003.12:155042940:TATATATATATATATATAT:TATATATATATATATAT,NC_000003.12:155042940:TATATATATATATATATAT:TATATATATATATATATATAT,NC_000003.12:155042940:TATATATATATATATATAT:TATATATATATATATATATATAT,NC_000003.12:155042940:TATATATATATATATATAT:TATATATATATATATATATATATAT,NC_000003.12:155042940:TATATATATATATATATAT:TATATATATATATATATATATATATAT,NC_000003.12:155042940:TATATATATATATATATAT:TATATATATATATATATATATATATATAT,NC_000003.12:155042940:TATATATATATATATATAT:TATATATATATATATATATATATATATATAT,NC_000003.12:155042940:TATATATATATATATATAT:TATATATATATATATATATATATATATATGTATATATATATATATATATATAT,NC_000003.12:155042940:TATATATATATATATATAT:TATATATATATATATATATATATATGTATATATATATATATATATATAT,NC_000003.12:155042940:TATATATATATATATATAT:TATATATATATATATATATATATGTATATATATATATATATATATAT,NC_000003.12:155042940:TATATATATATATATATAT:TATATATATATATATATATATGTATATATATATATATATATAT,NC_000003.12:155042940:TATATATATATATATATAT:TATATATATATATATATATATGTATATATATATATATATATATAT,NC_000003.12:155042940:TATATATATATATATATAT:TATATATATATATATATATGTATATATATATATATATATAT,NC_000003.12:155042940:TATATATATATATATATAT:TATATATATATATATATATGTATATATATATATATATATATAT,NC_000003.12:155042940:TATATATATATATATATAT:TATATATATATATATATATGTATATATATATATATATATATATAT,NC_000003.12:155042940:TATATATATATATATATAT:TATATATATATATATATATGTATATATATATATATATATGTATATATATATATATATATATAT
Gene:: MME (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATATATAT=0./0 (ALFA)
HGVS:: NC_000003.12:g.155042942AT[2], NC_000003.12:g.155042942AT[3], NC_000003.12:g.155042942AT[6], NC_000003.12:g.155042942AT[7], NC_000003.12:g.155042942AT[8], NC_000003.12:g.155042942AT[10], NC_000003.12:g.155042942AT[11], NC_000003.12:g.155042942AT[12], NC_000003.12:g.155042942AT[13], NC_000003.12:g.155042942AT[14], NC_000003.12:g.155042942AT[15], NC_000003.12:g.155042941_155042959TA[14]TGTATATATATATATATATATATAT[1], NC_000003.12:g.155042941_155042959TA[12]TGTATATATATATATATATATATAT[1], NC_000003.12:g.155042941_155042959TA[11]TGTATATATATATATATATATATAT[1], NC_000003.12:g.155042941_155042959TA[10]TGTATATATATATATATATATAT[1], NC_000003.12:g.155042941_155042959TA[10]TGTATATATATATATATATATATAT[1], NC_000003.12:g.155042941_155042959TA[9]TGTATATATATATATATATATAT[1], NC_000003.12:g.155042941_155042959TA[9]TGTATATATATATATATATATATAT[1], NC_000003.12:g.155042941_155042959TA[9]TGTATATATATATATATATATATATAT[1], NC_000003.12:g.155042941_155042959TATATATATATATATATATG[2]TA[11]T[1], NC_000003.11:g.154760731AT[2], NC_000003.11:g.154760731AT[3], NC_000003.11:g.154760731AT[6], NC_000003.11:g.154760731AT[7], NC_000003.11:g.154760731AT[8], NC_000003.11:g.154760731AT[10], NC_000003.11:g.154760731AT[11], NC_000003.11:g.154760731AT[12], NC_000003.11:g.154760731AT[13], NC_000003.11:g.154760731AT[14], NC_000003.11:g.154760731AT[15], NC_000003.11:g.154760730_154760748TA[14]TGTATATATATATATATATATATAT[1], NC_000003.11:g.154760730_154760748TA[12]TGTATATATATATATATATATATAT[1], NC_000003.11:g.154760730_154760748TA[11]TGTATATATATATATATATATATAT[1], NC_000003.11:g.154760730_154760748TA[10]TGTATATATATATATATATATAT[1], NC_000003.11:g.154760730_154760748TA[10]TGTATATATATATATATATATATAT[1], NC_000003.11:g.154760730_154760748TA[9]TGTATATATATATATATATATAT[1], NC_000003.11:g.154760730_154760748TA[9]TGTATATATATATATATATATATAT[1], NC_000003.11:g.154760730_154760748TA[9]TGTATATATATATATATATATATATAT[1], NC_000003.11:g.154760730_154760748TATATATATATATATATATG[2]TA[11]T[1], NG_051105.1:g.23819AT[2], NG_051105.1:g.23819AT[3], NG_051105.1:g.23819AT[6], NG_051105.1:g.23819AT[7], NG_051105.1:g.23819AT[8], NG_051105.1:g.23819AT[10], NG_051105.1:g.23819AT[11], NG_051105.1:g.23819AT[12], NG_051105.1:g.23819AT[13], NG_051105.1:g.23819AT[14], NG_051105.1:g.23819AT[15], NG_051105.1:g.23818_23836TA[14]TGTATATATATATATATATATATAT[1], NG_051105.1:g.23818_23836TA[12]TGTATATATATATATATATATATAT[1], NG_051105.1:g.23818_23836TA[11]TGTATATATATATATATATATATAT[1], NG_051105.1:g.23818_23836TA[10]TGTATATATATATATATATATAT[1], NG_051105.1:g.23818_23836TA[10]TGTATATATATATATATATATATAT[1], NG_051105.1:g.23818_23836TA[9]TGTATATATATATATATATATAT[1], NG_051105.1:g.23818_23836TA[9]TGTATATATATATATATATATATAT[1], NG_051105.1:g.23818_23836TA[9]TGTATATATATATATATATATATATAT[1], NG_051105.1:g.23818_23836TATATATATATATATATATG[2]TA[11]T[1]

Select item 149128966713.

rs1491289667 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 3:155105778 (GRCh38)
3:154823568 (GRCh37)
Canonical SPDI:: NC_000003.12:155105778:AAAAAA:AAAAAAA
Gene:: MME (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AAAAAAA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.155105784dup, NC_000003.11:g.154823573dup, NG_051105.1:g.86661dup

Select item 149127355314.

rs1491273553 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 3:155116607 (GRCh38)
3:154834396 (GRCh37)
Canonical SPDI:: NC_000003.12:155116606:TT:
Gene:: MME (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000035/1 (TOMMO)
-=0.000037/4 (ExAC)
HGVS:: NC_000003.12:g.155116607_155116608del, NC_000003.11:g.154834396_154834397del, NG_051105.1:g.97484_97485del

Select item 149126909415.

rs1491269094 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATTATATAATGTATATTATATTTATATATATTTATATATAAATATATA [Show Flanks]
Chromosome:: 3:155063323 (GRCh38)
3:154781113 (GRCh37)
Canonical SPDI:: NC_000003.12:155063323:TATATATAAATATATAATTATATAATGTATATTATATTTATATATATTTATATATAAATATATA:TATATATAAATATATAATTATATAATGTATATTATATTTATATATATTTATATATAAATATATAATTATATAATGTATATTATATTTATATATATTTATATATAAATATATA
Gene:: MME (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: TATATATAAATATATAATTATATAATGTATATTATATTTATATATATT=0.000107/11 (GnomAD)
HGVS:: NC_000003.12:g.155063340_155063387dup, NC_000003.11:g.154781129_154781176dup, NG_051105.1:g.44217_44264dup

Select item 149125990216.

rs1491259902 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 3:155087006 (GRCh38)
3:154804796 (GRCh37)
Canonical SPDI:: NC_000003.12:155087006::G
Gene:: MME (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00152/18 (ALFA)
G=0.00175/29 (TOMMO)
G=0.00301/215 (GnomAD)
HGVS:: NC_000003.12:g.155087006_155087007insG, NC_000003.11:g.154804795_154804796insG, NG_051105.1:g.67883_67884insG

Select item 149125666617.

rs1491256666 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 3:155049663 (GRCh38)
3:154767452 (GRCh37)
Canonical SPDI:: NC_000003.12:155049661:TCT:T
Gene:: MME (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000612/10 (ALFA)
-=0.001239/173 (GnomAD)
HGVS:: NC_000003.12:g.155049663_155049664del, NC_000003.11:g.154767452_154767453del, NG_051105.1:g.30540_30541del

Select item 149123327918.

rs1491233279 has merged into rs35653282 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTT>-,T,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 3:155140421 (GRCh38)
3:154858210 (GRCh37)
Canonical SPDI:: NC_000003.12:155140410:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000003.12:155140410:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:155140410:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:155140410:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:155140410:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:155140410:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:155140410:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:155140410:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:155140410:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:155140410:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:155140410:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:155140410:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:155140410:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:155140410:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:155140410:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:155140410:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:155140410:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:155140410:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:155140410:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:155140410:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:155140410:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:155140410:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:155140410:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:155140410:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:155140410:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:155140410:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: MME (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
-=0.4986/2497 (1000Genomes)
HGVS:: NC_000003.12:g.155140421_155140434del, NC_000003.12:g.155140422_155140434del, NC_000003.12:g.155140426_155140434del, NC_000003.12:g.155140427_155140434del, NC_000003.12:g.155140428_155140434del, NC_000003.12:g.155140429_155140434del, NC_000003.12:g.155140430_155140434del, NC_000003.12:g.155140431_155140434del, NC_000003.12:g.155140432_155140434del, NC_000003.12:g.155140433_155140434del, NC_000003.12:g.155140434del, NC_000003.12:g.155140434dup, NC_000003.12:g.155140433_155140434dup, NC_000003.12:g.155140432_155140434dup, NC_000003.12:g.155140431_155140434dup, NC_000003.12:g.155140430_155140434dup, NC_000003.12:g.155140429_155140434dup, NC_000003.12:g.155140428_155140434dup, NC_000003.12:g.155140427_155140434dup, NC_000003.12:g.155140426_155140434dup, NC_000003.12:g.155140425_155140434dup, NC_000003.12:g.155140422_155140434dup, NC_000003.12:g.155140418_155140434dup, NC_000003.12:g.155140416_155140434dup, NC_000003.12:g.155140411_155140434dup, NC_000003.12:g.155140434_155140435insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.154858210_154858223del, NC_000003.11:g.154858211_154858223del, NC_000003.11:g.154858215_154858223del, NC_000003.11:g.154858216_154858223del, NC_000003.11:g.154858217_154858223del, NC_000003.11:g.154858218_154858223del, NC_000003.11:g.154858219_154858223del, NC_000003.11:g.154858220_154858223del, NC_000003.11:g.154858221_154858223del, NC_000003.11:g.154858222_154858223del, NC_000003.11:g.154858223del, NC_000003.11:g.154858223dup, NC_000003.11:g.154858222_154858223dup, NC_000003.11:g.154858221_154858223dup, NC_000003.11:g.154858220_154858223dup, NC_000003.11:g.154858219_154858223dup, NC_000003.11:g.154858218_154858223dup, NC_000003.11:g.154858217_154858223dup, NC_000003.11:g.154858216_154858223dup, NC_000003.11:g.154858215_154858223dup, NC_000003.11:g.154858214_154858223dup, NC_000003.11:g.154858211_154858223dup, NC_000003.11:g.154858207_154858223dup, NC_000003.11:g.154858205_154858223dup, NC_000003.11:g.154858200_154858223dup, NC_000003.11:g.154858223_154858224insTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_051105.1:g.121298_121311del, NG_051105.1:g.121299_121311del, NG_051105.1:g.121303_121311del, NG_051105.1:g.121304_121311del, NG_051105.1:g.121305_121311del, NG_051105.1:g.121306_121311del, NG_051105.1:g.121307_121311del, NG_051105.1:g.121308_121311del, NG_051105.1:g.121309_121311del, NG_051105.1:g.121310_121311del, NG_051105.1:g.121311del, NG_051105.1:g.121311dup, NG_051105.1:g.121310_121311dup, NG_051105.1:g.121309_121311dup, NG_051105.1:g.121308_121311dup, NG_051105.1:g.121307_121311dup, NG_051105.1:g.121306_121311dup, NG_051105.1:g.121305_121311dup, NG_051105.1:g.121304_121311dup, NG_051105.1:g.121303_121311dup, NG_051105.1:g.121302_121311dup, NG_051105.1:g.121299_121311dup, NG_051105.1:g.121295_121311dup, NG_051105.1:g.121293_121311dup, NG_051105.1:g.121288_121311dup, NG_051105.1:g.121311_121312insTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149122371619.

rs1491223716 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 3:155160370 (GRCh38)
3:154878159 (GRCh37)
Canonical SPDI:: NC_000003.12:155160367:AGAG:AG
Gene:: MME (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
HGVS:: NC_000003.12:g.155160368AG[1], NC_000003.11:g.154878157AG[1], NG_051105.1:g.141245AG[1]

Select item 149122248720.

rs1491222487 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATATATAAATATATATTTCATATATATTT>-,ATATATAAATATATATTTCATATATATTTATATATAAATATATATTTCATATATATTT,ATATATAAATATATATTTCATATATATTTATATATAAATATATATTTCATATATATTTATATATAAATATATATTTCATATATATTT [Show Flanks]
Chromosome:: 3:155063373 (GRCh38)
3:154781162 (GRCh37)
Canonical SPDI:: NC_000003.12:155063362:ATATATATTTATATATAAATATATATTTCATATATATTT:ATATATATTT,NC_000003.12:155063362:ATATATATTTATATATAAATATATATTTCATATATATTT:ATATATATTTATATATAAATATATATTTCATATATATTTATATATAAATATATATTTCATATATATTT,NC_000003.12:155063362:ATATATATTTATATATAAATATATATTTCATATATATTT:ATATATATTTATATATAAATATATATTTCATATATATTTATATATAAATATATATTTCATATATATTTATATATAAATATATATTTCATATATATTT
Gene:: MME (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATTTATATATAAATATATATTTCATATATATTTATATATAAATATATATTTCATATATATTT=0.00153/25 (ALFA)
ATATATATTTATATATAAATATATATTTC=0.00016/3 (TOMMO)
HGVS:: NC_000003.12:g.155063373_155063401del, NC_000003.12:g.155063373_155063401dup, NC_000003.12:g.155063373ATATATAAATATATATTTCATATATATTT[3], NC_000003.11:g.154781162_154781190del, NC_000003.11:g.154781162_154781190dup, NC_000003.11:g.154781162ATATATAAATATATATTTCATATATATTT[3], NG_051105.1:g.44250_44278del, NG_051105.1:g.44250_44278dup, NG_051105.1:g.44250ATATATAAATATATATTTCATATATATTT[3]

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