SNP Links for Nucleotide (Select 224028252) - SNP

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Select item 14915193551.

rs1491519355 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GCAC,GCACAC,GCACACAC,GCACACACAC,GCACACACACAC,GCACACACACACAC,GCACACACACACACAC,GCGCAC,GCGCACAC [Show Flanks]
Chromosome:: 13:102895809 (GRCh38)
13:103548160 (GRCh37)
Canonical SPDI:: NC_000013.11:102895809:C:CGCAC,NC_000013.11:102895809:C:CGCACAC,NC_000013.11:102895809:C:CGCACACAC,NC_000013.11:102895809:C:CGCACACACAC,NC_000013.11:102895809:C:CGCACACACACAC,NC_000013.11:102895809:C:CGCACACACACACAC,NC_000013.11:102895809:C:CGCACACACACACACAC,NC_000013.11:102895809:C:CGCGCAC,NC_000013.11:102895809:C:CGCGCACAC
Gene:: METTL21EP (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CGCACAC=0./0 (ALFA)
CGCACACACACACACA=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.102895810_102895811insGCAC, NC_000013.11:g.102895810_102895811insGCACAC, NC_000013.11:g.102895810_102895811insGCACACAC, NC_000013.11:g.102895810_102895811insGCACACACAC, NC_000013.11:g.102895810_102895811insGCACACACACAC, NC_000013.11:g.102895810_102895811insGCACACACACACAC, NC_000013.11:g.102895810_102895811insGCACACACACACACAC, NC_000013.11:g.102895810CG[2]CAC[1], NC_000013.11:g.102895810CG[2]CA[2]C[1], NC_000013.10:g.103548160_103548161insGCAC, NC_000013.10:g.103548160_103548161insGCACAC, NC_000013.10:g.103548160_103548161insGCACACAC, NC_000013.10:g.103548160_103548161insGCACACACAC, NC_000013.10:g.103548160_103548161insGCACACACACAC, NC_000013.10:g.103548160_103548161insGCACACACACACAC, NC_000013.10:g.103548160_103548161insGCACACACACACACAC, NC_000013.10:g.103548160CG[2]CAC[1], NC_000013.10:g.103548160CG[2]CA[2]C[1], NR_026965.1:n.2089_2090insGCAC, NR_026965.1:n.2089_2090insGCACAC, NR_026965.1:n.2089_2090insGCACACAC, NR_026965.1:n.2089_2090insGCACACACAC, NR_026965.1:n.2089_2090insGCACACACACAC, NR_026965.1:n.2089_2090insGCACACACACACAC, NR_026965.1:n.2089_2090insGCACACACACACACAC, NR_026965.1:n.2089CG[2]CAC[1], NR_026965.1:n.2089CG[2]CA[2]C[1]

Select item 14914267202.

rs1491426720 [Homo sapiens]

Variant type:: INS
Alleles:: ->TC [Show Flanks]
Chromosome:: 13:102892569 (GRCh38)
13:103544920 (GRCh37)
Canonical SPDI:: NC_000013.11:102892569::TC
Gene:: METTL21EP (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: TC=0./0 (ALFA)
HGVS:: NC_000013.11:g.102892569_102892570insTC, NC_000013.10:g.103544919_103544920insTC, NR_026965.1:n.1428_1429insTC

Select item 14914101763.

rs1491410176 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 13:102895802 (GRCh38)
13:103548152 (GRCh37)
Canonical SPDI:: NC_000013.11:102895801:TG:
Gene:: METTL21EP (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000013.11:g.102895802_102895803del, NC_000013.10:g.103548152_103548153del, NR_026965.1:n.2081_2082del

Select item 14913328484.

rs1491332848 has merged into rs71131029 [Homo sapiens]

Variant type:: DELINS
Alleles:: GCGCGC>-,GC,GCGC,GCGCGCGC,GCGCGCGCGC [Show Flanks]
Chromosome:: 13:102895805 (GRCh38)
13:103548155 (GRCh37)
Canonical SPDI:: NC_000013.11:102895802:GCGCGCGC:GC,NC_000013.11:102895802:GCGCGCGC:GCGC,NC_000013.11:102895802:GCGCGCGC:GCGCGC,NC_000013.11:102895802:GCGCGCGC:GCGCGCGCGC,NC_000013.11:102895802:GCGCGCGC:GCGCGCGCGCGC
Gene:: METTL21EP (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GCGCGCGCGC=0./0 (ALFA)
GCGC=0.000004/1 (TOPMED)
-=0.0082/36 (Estonian)
-=0.26959/1039 (ALSPAC)
HGVS:: NC_000013.11:g.102895803GC[1], NC_000013.11:g.102895803GC[2], NC_000013.11:g.102895803GC[3], NC_000013.11:g.102895803GC[5], NC_000013.11:g.102895803GC[6], NC_000013.10:g.103548153GC[1], NC_000013.10:g.103548153GC[2], NC_000013.10:g.103548153GC[3], NC_000013.10:g.103548153GC[5], NC_000013.10:g.103548153GC[6], NR_026965.1:n.2082GC[1], NR_026965.1:n.2082GC[2], NR_026965.1:n.2082GC[3], NR_026965.1:n.2082GC[5], NR_026965.1:n.2082GC[6]

Select item 14912056575.

rs1491205657 has merged into rs71131029 [Homo sapiens]

Variant type:: DELINS
Alleles:: GCGCGC>-,GC,GCGC,GCGCGCGC,GCGCGCGCGC [Show Flanks]
Chromosome:: 13:102895805 (GRCh38)
13:103548155 (GRCh37)
Canonical SPDI:: NC_000013.11:102895802:GCGCGCGC:GC,NC_000013.11:102895802:GCGCGCGC:GCGC,NC_000013.11:102895802:GCGCGCGC:GCGCGC,NC_000013.11:102895802:GCGCGCGC:GCGCGCGCGC,NC_000013.11:102895802:GCGCGCGC:GCGCGCGCGCGC
Gene:: METTL21EP (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GCGCGCGCGC=0./0 (ALFA)
GCGC=0.000004/1 (TOPMED)
-=0.0082/36 (Estonian)
-=0.26959/1039 (ALSPAC)
HGVS:: NC_000013.11:g.102895803GC[1], NC_000013.11:g.102895803GC[2], NC_000013.11:g.102895803GC[3], NC_000013.11:g.102895803GC[5], NC_000013.11:g.102895803GC[6], NC_000013.10:g.103548153GC[1], NC_000013.10:g.103548153GC[2], NC_000013.10:g.103548153GC[3], NC_000013.10:g.103548153GC[5], NC_000013.10:g.103548153GC[6], NR_026965.1:n.2082GC[1], NR_026965.1:n.2082GC[2], NR_026965.1:n.2082GC[3], NR_026965.1:n.2082GC[5], NR_026965.1:n.2082GC[6]

Select item 14906592796.

rs1490659279 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:102895761 (GRCh38)
13:103548111 (GRCh37)
Canonical SPDI:: NC_000013.11:102895760:T:C
Gene:: METTL21EP (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.102895761T>C, NC_000013.10:g.103548111T>C, NR_026965.1:n.2040T>C

Select item 14899167247.

rs1489916724 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:102892632 (GRCh38)
13:103544982 (GRCh37)
Canonical SPDI:: NC_000013.11:102892631:T:C
Gene:: METTL21EP (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000019/5 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000013.11:g.102892632T>C, NC_000013.10:g.103544982T>C, NR_026965.1:n.1491T>C

Select item 14898425648.

rs1489842564 has merged into rs61453742 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACACACACACACACACACACACACA>-,CACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACA [Show Flanks]
Chromosome:: 13:102895824 (GRCh38)
13:103548174 (GRCh37)
Canonical SPDI:: NC_000013.11:102895809:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACA,NC_000013.11:102895809:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACA,NC_000013.11:102895809:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACA,NC_000013.11:102895809:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACA,NC_000013.11:102895809:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACA,NC_000013.11:102895809:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACA,NC_000013.11:102895809:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACA,NC_000013.11:102895809:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACA,NC_000013.11:102895809:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACA,NC_000013.11:102895809:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACA,NC_000013.11:102895809:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACA,NC_000013.11:102895809:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACA,NC_000013.11:102895809:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACA,NC_000013.11:102895809:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACA,NC_000013.11:102895809:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACA,NC_000013.11:102895809:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000013.11:102895809:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000013.11:102895809:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000013.11:102895809:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000013.11:102895809:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000013.11:102895809:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000013.11:102895809:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA
Gene:: METTL21EP (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACACACACACA=0./0 (ALFA)
HGVS:: NC_000013.11:g.102895810CA[7], NC_000013.11:g.102895810CA[9], NC_000013.11:g.102895810CA[11], NC_000013.11:g.102895810CA[12], NC_000013.11:g.102895810CA[13], NC_000013.11:g.102895810CA[14], NC_000013.11:g.102895810CA[15], NC_000013.11:g.102895810CA[16], NC_000013.11:g.102895810CA[17], NC_000013.11:g.102895810CA[18], NC_000013.11:g.102895810CA[19], NC_000013.11:g.102895810CA[20], NC_000013.11:g.102895810CA[22], NC_000013.11:g.102895810CA[23], NC_000013.11:g.102895810CA[24], NC_000013.11:g.102895810CA[25], NC_000013.11:g.102895810CA[26], NC_000013.11:g.102895810CA[27], NC_000013.11:g.102895810CA[28], NC_000013.11:g.102895810CA[29], NC_000013.11:g.102895810CA[30], NC_000013.11:g.102895810CA[31], NC_000013.10:g.103548160CA[7], NC_000013.10:g.103548160CA[9], NC_000013.10:g.103548160CA[11], NC_000013.10:g.103548160CA[12], NC_000013.10:g.103548160CA[13], NC_000013.10:g.103548160CA[14], NC_000013.10:g.103548160CA[15], NC_000013.10:g.103548160CA[16], NC_000013.10:g.103548160CA[17], NC_000013.10:g.103548160CA[18], NC_000013.10:g.103548160CA[19], NC_000013.10:g.103548160CA[20], NC_000013.10:g.103548160CA[22], NC_000013.10:g.103548160CA[23], NC_000013.10:g.103548160CA[24], NC_000013.10:g.103548160CA[25], NC_000013.10:g.103548160CA[26], NC_000013.10:g.103548160CA[27], NC_000013.10:g.103548160CA[28], NC_000013.10:g.103548160CA[29], NC_000013.10:g.103548160CA[30], NC_000013.10:g.103548160CA[31], NR_026965.1:n.2089CA[7], NR_026965.1:n.2089CA[9], NR_026965.1:n.2089CA[11], NR_026965.1:n.2089CA[12], NR_026965.1:n.2089CA[13], NR_026965.1:n.2089CA[14], NR_026965.1:n.2089CA[15], NR_026965.1:n.2089CA[16], NR_026965.1:n.2089CA[17], NR_026965.1:n.2089CA[18], NR_026965.1:n.2089CA[19], NR_026965.1:n.2089CA[20], NR_026965.1:n.2089CA[22], NR_026965.1:n.2089CA[23], NR_026965.1:n.2089CA[24], NR_026965.1:n.2089CA[25], NR_026965.1:n.2089CA[26], NR_026965.1:n.2089CA[27], NR_026965.1:n.2089CA[28], NR_026965.1:n.2089CA[29], NR_026965.1:n.2089CA[30], NR_026965.1:n.2089CA[31]

Select item 14876969079.

rs1487696907 has merged into rs61453742 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACACACACACACACACACACACACA>-,CACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACA [Show Flanks]
Chromosome:: 13:102895824 (GRCh38)
13:103548174 (GRCh37)
Canonical SPDI:: NC_000013.11:102895809:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACA,NC_000013.11:102895809:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACA,NC_000013.11:102895809:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACA,NC_000013.11:102895809:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACA,NC_000013.11:102895809:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACA,NC_000013.11:102895809:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACA,NC_000013.11:102895809:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACA,NC_000013.11:102895809:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACA,NC_000013.11:102895809:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACA,NC_000013.11:102895809:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACA,NC_000013.11:102895809:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACA,NC_000013.11:102895809:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACA,NC_000013.11:102895809:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACA,NC_000013.11:102895809:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACA,NC_000013.11:102895809:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACA,NC_000013.11:102895809:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000013.11:102895809:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000013.11:102895809:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000013.11:102895809:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000013.11:102895809:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000013.11:102895809:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000013.11:102895809:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA
Gene:: METTL21EP (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACACACACACA=0./0 (ALFA)
HGVS:: NC_000013.11:g.102895810CA[7], NC_000013.11:g.102895810CA[9], NC_000013.11:g.102895810CA[11], NC_000013.11:g.102895810CA[12], NC_000013.11:g.102895810CA[13], NC_000013.11:g.102895810CA[14], NC_000013.11:g.102895810CA[15], NC_000013.11:g.102895810CA[16], NC_000013.11:g.102895810CA[17], NC_000013.11:g.102895810CA[18], NC_000013.11:g.102895810CA[19], NC_000013.11:g.102895810CA[20], NC_000013.11:g.102895810CA[22], NC_000013.11:g.102895810CA[23], NC_000013.11:g.102895810CA[24], NC_000013.11:g.102895810CA[25], NC_000013.11:g.102895810CA[26], NC_000013.11:g.102895810CA[27], NC_000013.11:g.102895810CA[28], NC_000013.11:g.102895810CA[29], NC_000013.11:g.102895810CA[30], NC_000013.11:g.102895810CA[31], NC_000013.10:g.103548160CA[7], NC_000013.10:g.103548160CA[9], NC_000013.10:g.103548160CA[11], NC_000013.10:g.103548160CA[12], NC_000013.10:g.103548160CA[13], NC_000013.10:g.103548160CA[14], NC_000013.10:g.103548160CA[15], NC_000013.10:g.103548160CA[16], NC_000013.10:g.103548160CA[17], NC_000013.10:g.103548160CA[18], NC_000013.10:g.103548160CA[19], NC_000013.10:g.103548160CA[20], NC_000013.10:g.103548160CA[22], NC_000013.10:g.103548160CA[23], NC_000013.10:g.103548160CA[24], NC_000013.10:g.103548160CA[25], NC_000013.10:g.103548160CA[26], NC_000013.10:g.103548160CA[27], NC_000013.10:g.103548160CA[28], NC_000013.10:g.103548160CA[29], NC_000013.10:g.103548160CA[30], NC_000013.10:g.103548160CA[31], NR_026965.1:n.2089CA[7], NR_026965.1:n.2089CA[9], NR_026965.1:n.2089CA[11], NR_026965.1:n.2089CA[12], NR_026965.1:n.2089CA[13], NR_026965.1:n.2089CA[14], NR_026965.1:n.2089CA[15], NR_026965.1:n.2089CA[16], NR_026965.1:n.2089CA[17], NR_026965.1:n.2089CA[18], NR_026965.1:n.2089CA[19], NR_026965.1:n.2089CA[20], NR_026965.1:n.2089CA[22], NR_026965.1:n.2089CA[23], NR_026965.1:n.2089CA[24], NR_026965.1:n.2089CA[25], NR_026965.1:n.2089CA[26], NR_026965.1:n.2089CA[27], NR_026965.1:n.2089CA[28], NR_026965.1:n.2089CA[29], NR_026965.1:n.2089CA[30], NR_026965.1:n.2089CA[31]

Select item 148480034710.

rs1484800347 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 13:102892020 (GRCh38)
13:103544370 (GRCh37)
Canonical SPDI:: NC_000013.11:102892019:A:C
Gene:: METTL21EP (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.102892020A>C, NC_000013.10:g.103544370A>C, NR_026965.1:n.879A>C

Select item 148441264011.

rs1484412640 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:102895635 (GRCh38)
13:103547985 (GRCh37)
Canonical SPDI:: NC_000013.11:102895634:T:C
Gene:: METTL21EP (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0./0 (KOREAN)
C=0.000014/2 (GnomAD)
C=0.000023/6 (TOPMED)
C=0.000035/1 (TOMMO)
C=0.000546/1 (Korea1K)
HGVS:: NC_000013.11:g.102895635T>C, NC_000013.10:g.103547985T>C, NR_026965.1:n.1914T>C

Select item 148321898312.

rs1483218983 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:102895938 (GRCh38)
13:103548288 (GRCh37)
Canonical SPDI:: NC_000013.11:102895937:A:G
Gene:: METTL21EP (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.0002/1 (ALFA)
G=0.0002/1 (Estonian)
HGVS:: NC_000013.11:g.102895938A>G, NC_000013.10:g.103548288A>G, NR_026965.1:n.2217A>G

Select item 148316107613.

rs1483161076 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 13:102892500 (GRCh38)
13:103544850 (GRCh37)
Canonical SPDI:: NC_000013.11:102892499:C:A,NC_000013.11:102892499:C:T
Gene:: METTL21EP (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.102892500C>A, NC_000013.11:g.102892500C>T, NC_000013.10:g.103544850C>A, NC_000013.10:g.103544850C>T, NR_026965.1:n.1359C>A, NR_026965.1:n.1359C>T

Select item 148280697714.

rs1482806977 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 13:102880153 (GRCh38)
13:103532503 (GRCh37)
Canonical SPDI:: NC_000013.11:102880152:A:T
Gene:: METTL21EP (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.102880153A>T, NC_000013.10:g.103532503A>T, NR_026965.1:n.55A>T

Select item 147986471515.

rs1479864715 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 13:102892483 (GRCh38)
13:103544833 (GRCh37)
Canonical SPDI:: NC_000013.11:102892481:ATA:A
Gene:: METTL21EP (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.102892483_102892484del, NC_000013.10:g.103544833_103544834del, NR_026965.1:n.1342_1343del

Select item 147916837916.

rs1479168379 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACACAAAACC>- [Show Flanks]
Chromosome:: 13:102895847 (GRCh38)
13:103548197 (GRCh37)
Canonical SPDI:: NC_000013.11:102895845:CACACAAAACC:C
Gene:: METTL21EP (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000013.11:g.102895847_102895856del, NC_000013.10:g.103548197_103548206del, NR_026965.1:n.2126_2135del

Select item 147898299117.

rs1478982991 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 13:102895931 (GRCh38)
13:103548281 (GRCh37)
Canonical SPDI:: NC_000013.11:102895930:T:G
Gene:: METTL21EP (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.102895931T>G, NC_000013.10:g.103548281T>G, NR_026965.1:n.2210T>G

Select item 147894478618.

rs1478944786 has merged into rs71131029 [Homo sapiens]

Variant type:: DELINS
Alleles:: GCGCGC>-,GC,GCGC,GCGCGCGC,GCGCGCGCGC [Show Flanks]
Chromosome:: 13:102895805 (GRCh38)
13:103548155 (GRCh37)
Canonical SPDI:: NC_000013.11:102895802:GCGCGCGC:GC,NC_000013.11:102895802:GCGCGCGC:GCGC,NC_000013.11:102895802:GCGCGCGC:GCGCGC,NC_000013.11:102895802:GCGCGCGC:GCGCGCGCGC,NC_000013.11:102895802:GCGCGCGC:GCGCGCGCGCGC
Gene:: METTL21EP (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GCGCGCGCGC=0./0 (ALFA)
GCGC=0.000004/1 (TOPMED)
-=0.0082/36 (Estonian)
-=0.26959/1039 (ALSPAC)
HGVS:: NC_000013.11:g.102895803GC[1], NC_000013.11:g.102895803GC[2], NC_000013.11:g.102895803GC[3], NC_000013.11:g.102895803GC[5], NC_000013.11:g.102895803GC[6], NC_000013.10:g.103548153GC[1], NC_000013.10:g.103548153GC[2], NC_000013.10:g.103548153GC[3], NC_000013.10:g.103548153GC[5], NC_000013.10:g.103548153GC[6], NR_026965.1:n.2082GC[1], NR_026965.1:n.2082GC[2], NR_026965.1:n.2082GC[3], NR_026965.1:n.2082GC[5], NR_026965.1:n.2082GC[6]

Select item 147571545319.

rs1475715453 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 13:102891630 (GRCh38)
13:103543980 (GRCh37)
Canonical SPDI:: NC_000013.11:102891629:G:A,NC_000013.11:102891629:G:T
Gene:: METTL21EP (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000013.11:g.102891630G>A, NC_000013.11:g.102891630G>T, NC_000013.10:g.103543980G>A, NC_000013.10:g.103543980G>T, NR_026965.1:n.489G>A, NR_026965.1:n.489G>T

Select item 147411591320.

rs1474115913 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:102891418 (GRCh38)
13:103543768 (GRCh37)
Canonical SPDI:: NC_000013.11:102891417:T:C
Gene:: METTL21EP (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000142/2 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000013.11:g.102891418T>C, NC_000013.10:g.103543768T>C, NR_026965.1:n.277T>C

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