SNP Links for Gene (Select 29074) - SNP

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Items: 1 to 20 of 3233

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Select item 14915774601.

rs1491577460 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TGTCAGGCTGGGG [Show Flanks]
Chromosome:: 6:159795281 (GRCh38)
6:160216314 (GRCh37)
Canonical SPDI:: NC_000006.12:159795281:GGGTGTCAGGCTGGGG:GGGTGTCAGGCTGGGGTGTCAGGCTGGGG
Gene:: MRPL18 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGTGTCAGGCTGGGGTGTCAGGCTGGGG=0./0 (ALFA)
GGGTGTCAGGCTG=0.000004/1 (TOPMED)
GGGTGTCAGGCTG=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.159795285_159795297dup, NC_000006.11:g.160216317_160216329dup

Select item 14914079722.

rs1491407972 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 6:159792998 (GRCh38)
6:160214030 (GRCh37)
Canonical SPDI:: NC_000006.12:159792996:TCT:T
Gene:: MRPL18 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000006.12:g.159792998_159792999del, NC_000006.11:g.160214030_160214031del

Select item 14911387243.

rs1491138724 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 6:159792997 (GRCh38)
6:160214030 (GRCh37)
Canonical SPDI:: NC_000006.12:159792997:C:CC
Gene:: MRPL18 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.159792998dup, NC_000006.11:g.160214030dup

Select item 14910946994.

rs1491094699 [Homo sapiens]

Variant type:: DEL
Alleles:: CG>- [Show Flanks]
Chromosome:: 6:159795281 (GRCh38)
6:160216313 (GRCh37)
Canonical SPDI:: NC_000006.12:159795280:CG:
Gene:: MRPL18 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.159795281_159795282del, NC_000006.11:g.160216313_160216314del

Select item 14910637685.

rs1491063768 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 6:159796822 (GRCh38)
6:160217854 (GRCh37)
Canonical SPDI:: NC_000006.12:159796819:ATAT:AT
Gene:: MRPL18 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATAT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.159796820AT[1], NC_000006.11:g.160217852AT[1]

Select item 14910591816.

rs1491059181 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 6:159788598 (GRCh38)
6:160209630 (GRCh37)
Canonical SPDI:: NC_000006.12:159788597:AG:
Gene:: TCP1 (Varview), MRPL18 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.159788598_159788599del, NC_000006.11:g.160209630_160209631del

Select item 14908342667.

rs1490834266 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:159790712 (GRCh38)
6:160211744 (GRCh37)
Canonical SPDI:: NC_000006.12:159790711:T:C
Gene:: TCP1 (Varview), MRPL18 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.159790712T>C, NC_000006.11:g.160211744T>C, NR_134861.2:n.246T>C, NR_134861.1:n.196T>C, NR_134860.1:n.239T>C

Select item 14906809088.

rs1490680908 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 6:159791502 (GRCh38)
6:160212534 (GRCh37)
Canonical SPDI:: NC_000006.12:159791501:C:A,NC_000006.12:159791501:C:T
Gene:: TCP1 (Varview), MRPL18 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.159791502C>A, NC_000006.12:g.159791502C>T, NC_000006.11:g.160212534C>A, NC_000006.11:g.160212534C>T

Select item 14906293829.

rs1490629382 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 6:159797152 (GRCh38)
6:160218184 (GRCh37)
Canonical SPDI:: NC_000006.12:159797151:C:A,NC_000006.12:159797151:C:T
Gene:: MRPL18 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000008/1 (GnomAD)
A=0.000034/9 (TOPMED)
HGVS:: NC_000006.12:g.159797152C>A, NC_000006.12:g.159797152C>T, NC_000006.11:g.160218184C>A, NC_000006.11:g.160218184C>T

Select item 149036508210.

rs1490365082 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:159790870 (GRCh38)
6:160211902 (GRCh37)
Canonical SPDI:: NC_000006.12:159790869:G:A
Gene:: TCP1 (Varview), MRPL18 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000019/5 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000006.12:g.159790870G>A, NC_000006.11:g.160211902G>A

Select item 149020135211.

rs1490201352 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:159791951 (GRCh38)
6:160212983 (GRCh37)
Canonical SPDI:: NC_000006.12:159791950:A:G
Gene:: MRPL18 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.159791951A>G, NC_000006.11:g.160212983A>G

Select item 148992879412.

rs1489928794 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 6:159792964 (GRCh38)
6:160213996 (GRCh37)
Canonical SPDI:: NC_000006.12:159792963:C:G,NC_000006.12:159792963:C:T
Gene:: MRPL18 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000022/3 (GnomAD)
G=0.000035/1 (TOMMO)
HGVS:: NC_000006.12:g.159792964C>G, NC_000006.12:g.159792964C>T, NC_000006.11:g.160213996C>G, NC_000006.11:g.160213996C>T

Select item 148953308513.

rs1489533085 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 6:159795756 (GRCh38)
6:160216788 (GRCh37)
Canonical SPDI:: NC_000006.12:159795755:C:A,NC_000006.12:159795755:C:T
Gene:: MRPL18 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.159795756C>A, NC_000006.12:g.159795756C>T, NC_000006.11:g.160216788C>A, NC_000006.11:g.160216788C>T

Select item 148936362414.

rs1489363624 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 6:159790193 (GRCh38)
6:160211225 (GRCh37)
Canonical SPDI:: NC_000006.12:159790192:C:
Gene:: TCP1 (Varview), MRPL18 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.159790193del, NC_000006.11:g.160211225del

Select item 148935373215.

rs1489353732 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:159789385 (GRCh38)
6:160210417 (GRCh37)
Canonical SPDI:: NC_000006.12:159789384:C:A
Gene:: TCP1 (Varview), MRPL18 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000008/2 (GnomAD_exomes)
A=0.000035/1 (TOMMO)
HGVS:: NC_000006.12:g.159789385C>A, NC_000006.11:g.160210417C>A

Select item 148933171316.

rs1489331713 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:159789642 (GRCh38)
6:160210674 (GRCh37)
Canonical SPDI:: NC_000006.12:159789641:C:T
Gene:: TCP1 (Varview), MRPL18 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.159789642C>T, NC_000006.11:g.160210674C>T, NM_030752.2:c.-174G>A, NM_001008897.1:c.-553G>A

Select item 148931303717.

rs1489313037 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAGA>- [Show Flanks]
Chromosome:: 6:159793923 (GRCh38)
6:160214955 (GRCh37)
Canonical SPDI:: NC_000006.12:159793921:AAAGA:A
Gene:: MRPL18 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.159793923_159793926del, NC_000006.11:g.160214955_160214958del

Select item 148930682518.

rs1489306825 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:159788973 (GRCh38)
6:160210005 (GRCh37)
Canonical SPDI:: NC_000006.12:159788972:C:T
Gene:: TCP1 (Varview), MRPL18 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.159788973C>T, NC_000006.11:g.160210005C>T

Select item 148927573319.

rs1489275733 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:159792878 (GRCh38)
6:160213910 (GRCh37)
Canonical SPDI:: NC_000006.12:159792877:G:A
Gene:: MRPL18 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.159792878G>A, NC_000006.11:g.160213910G>A

Select item 148871526320.

rs1488715263 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:159790963 (GRCh38)
6:160211995 (GRCh37)
Canonical SPDI:: NC_000006.12:159790962:A:G
Gene:: TCP1 (Varview), MRPL18 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.159790963A>G, NC_000006.11:g.160211995A>G, NM_014161.5:c.76A>G, NM_014161.4:c.76A>G, NM_014161.3:c.76A>G, NR_134861.2:n.345A>G, NR_134861.1:n.295A>G, NM_001318817.2:c.76A>G, NM_001318817.1:c.76A>G, NR_134860.1:n.338A>G, NR_134862.1:n.218A>G, NR_134863.1:n.218A>G, NR_134864.1:n.101A>G, NR_134865.1:n.218A>G, NR_134866.1:n.218A>G, NP_054880.2:p.Thr26Ala, NP_001305746.1:p.Thr26Ala

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