SNP Links for Nucleotide (Select 118498365) - SNP

Variant type:: DELINS
Alleles:: AAC>- [Show Flanks]
Chromosome:: 14:35046020 (GRCh38)
14:35515226 (GRCh37)
Canonical SPDI:: NC_000014.9:35046017:ACAAC:AC
Gene:: FAM177A1 (Varview)
Functional Consequence:: upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.35046020_35046022del, NC_000014.8:g.35515226_35515228del, NG_054633.1:g.6114_6116del, NM_001079519.1:c.-139_-137del

Select item 14870788368.

rs1487078836 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:35083062 (GRCh38)
14:35552268 (GRCh37)
Canonical SPDI:: NC_000014.9:35083061:C:T
Gene:: FAM177A1 (Varview), LOC101927178 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000043/6 (GnomAD)
HGVS:: NC_000014.9:g.35083062C>T, NC_000014.8:g.35552268C>T, NG_054633.1:g.43156C>T, NM_173607.5:c.*1834C>T, NM_173607.4:c.*1834C>T, NM_173607.3:c.*1834C>T, NM_001289022.3:c.*1834C>T, NM_001289022.2:c.*1834C>T, NM_001289022.1:c.*1834C>T, NM_001079519.1:c.*1834C>T

Select item 14869581689.

rs1486958168 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:35082414 (GRCh38)
14:35551620 (GRCh37)
Canonical SPDI:: NC_000014.9:35082413:G:A
Gene:: FAM177A1 (Varview), LOC101927178 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000342/1 (KOREAN)
HGVS:: NC_000014.9:g.35082414G>A, NC_000014.8:g.35551620G>A, NG_054633.1:g.42508G>A, NM_173607.5:c.*1186G>A, NM_173607.4:c.*1186G>A, NM_173607.3:c.*1186G>A, NM_001289022.3:c.*1186G>A, NM_001289022.2:c.*1186G>A, NM_001289022.1:c.*1186G>A, NM_001079519.1:c.*1186G>A

Select item 148670224010.

rs1486702240 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:35083343 (GRCh38)
14:35552549 (GRCh37)
Canonical SPDI:: NC_000014.9:35083342:T:C
Gene:: FAM177A1 (Varview), LOC101927178 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_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_000014.9:g.35083343T>C, NC_000014.8:g.35552549T>C, NG_054633.1:g.43437T>C, NM_173607.5:c.*2115T>C, NM_173607.4:c.*2115T>C, NM_173607.3:c.*2115T>C, NM_001289022.3:c.*2115T>C, NM_001289022.2:c.*2115T>C, NM_001289022.1:c.*2115T>C, NM_001079519.1:c.*2115T>C

Select item 148657029911.

rs1486570299 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:35082182 (GRCh38)
14:35551388 (GRCh37)
Canonical SPDI:: NC_000014.9:35082181:C:T
Gene:: FAM177A1 (Varview), LOC101927178 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
HGVS:: NC_000014.9:g.35082182C>T, NC_000014.8:g.35551388C>T, NG_054633.1:g.42276C>T, NM_173607.5:c.*954C>T, NM_173607.4:c.*954C>T, NM_173607.3:c.*954C>T, NM_001289022.3:c.*954C>T, NM_001289022.2:c.*954C>T, NM_001289022.1:c.*954C>T, NM_001079519.1:c.*954C>T

Select item 148601111912.

rs1486011119 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:35082403 (GRCh38)
14:35551609 (GRCh37)
Canonical SPDI:: NC_000014.9:35082402:C:T
Gene:: FAM177A1 (Varview), LOC101927178 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.35082403C>T, NC_000014.8:g.35551609C>T, NG_054633.1:g.42497C>T, NM_173607.5:c.*1175C>T, NM_173607.4:c.*1175C>T, NM_173607.3:c.*1175C>T, NM_001289022.3:c.*1175C>T, NM_001289022.2:c.*1175C>T, NM_001289022.1:c.*1175C>T, NM_001079519.1:c.*1175C>T

Select item 148554455013.

rs1485544550 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:35045001 (GRCh38)
14:35514207 (GRCh37)
Canonical SPDI:: NC_000014.9:35045000:A:G
Gene:: FAM177A1 (Varview)
Functional Consequence:: upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_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_000014.9:g.35045001A>G, NC_000014.8:g.35514207A>G, NG_054633.1:g.5095A>G, NM_001079519.1:c.-365A>G

Select item 148022524514.

rs1480225245 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 14:35044935 (GRCh38)
14:35514141 (GRCh37)
Canonical SPDI:: NC_000014.9:35044934:C:A,NC_000014.9:35044934:C:G
Gene:: FAM177A1 (Varview)
Functional Consequence:: upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.35044935C>A, NC_000014.9:g.35044935C>G, NC_000014.8:g.35514141C>A, NC_000014.8:g.35514141C>G, NG_054633.1:g.5029C>A, NG_054633.1:g.5029C>G, NM_001079519.1:c.-431C>A, NM_001079519.1:c.-431C>G

Select item 147850100015.

rs1478501000 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:35078950 (GRCh38)
14:35548156 (GRCh37)
Canonical SPDI:: NC_000014.9:35078949:A:G
Gene:: FAM177A1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000014.9:g.35078950A>G, NC_000014.8:g.35548156A>G, NG_054633.1:g.39044A>G, NM_173607.5:c.430A>G, NM_173607.4:c.430A>G, NM_173607.3:c.430A>G, NM_001289022.3:c.361A>G, NM_001289022.2:c.361A>G, NM_001289022.1:c.361A>G, NM_001079519.1:c.361A>G, NP_775878.2:p.Ile144Val, NP_001275951.1:p.Ile121Val, NP_001072987.1:p.Ile121Val

Select item 147807187416.

rs1478071874 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:35053387 (GRCh38)
14:35522593 (GRCh37)
Canonical SPDI:: NC_000014.9:35053386:A:G
Gene:: FAM177A1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000014.9:g.35053387A>G, NC_000014.8:g.35522593A>G, NG_054633.1:g.13481A>G, NM_173607.5:c.275A>G, NM_173607.4:c.275A>G, NM_173607.3:c.275A>G, NM_001289022.3:c.206A>G, NM_001289022.2:c.206A>G, NM_001289022.1:c.206A>G, NM_001079519.1:c.206A>G, NP_775878.2:p.Tyr92Cys, NP_001275951.1:p.Tyr69Cys, NP_001072987.1:p.Tyr69Cys

Select item 147729399617.

rs1477293996 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:35078940 (GRCh38)
14:35548146 (GRCh37)
Canonical SPDI:: NC_000014.9:35078939:T:C
Gene:: FAM177A1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000014.9:g.35078940T>C, NC_000014.8:g.35548146T>C, NG_054633.1:g.39034T>C, NM_173607.5:c.420T>C, NM_173607.4:c.420T>C, NM_173607.3:c.420T>C, NM_001289022.3:c.351T>C, NM_001289022.2:c.351T>C, NM_001289022.1:c.351T>C, NM_001079519.1:c.351T>C

Select item 147656251018.

rs1476562510 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 14:35082886 (GRCh38)
14:35552092 (GRCh37)
Canonical SPDI:: NC_000014.9:35082885:G:A,NC_000014.9:35082885:G:C
Gene:: FAM177A1 (Varview), LOC101927178 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
C=0.000156/1 (1000Genomes)
HGVS:: NC_000014.9:g.35082886G>A, NC_000014.9:g.35082886G>C, NC_000014.8:g.35552092G>A, NC_000014.8:g.35552092G>C, NG_054633.1:g.42980G>A, NG_054633.1:g.42980G>C, NM_173607.5:c.*1658G>A, NM_173607.5:c.*1658G>C, NM_173607.4:c.*1658G>A, NM_173607.4:c.*1658G>C, NM_173607.3:c.*1658G>A, NM_173607.3:c.*1658G>C, NM_001289022.3:c.*1658G>A, NM_001289022.3:c.*1658G>C, NM_001289022.2:c.*1658G>A, NM_001289022.2:c.*1658G>C, NM_001289022.1:c.*1658G>A, NM_001289022.1:c.*1658G>C, NM_001079519.1:c.*1658G>A, NM_001079519.1:c.*1658G>C

Select item 147613473219.

rs1476134732 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 14:35082775 (GRCh38)
14:35551981 (GRCh37)
Canonical SPDI:: NC_000014.9:35082774:G:C
Gene:: FAM177A1 (Varview), LOC101927178 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.35082775G>C, NC_000014.8:g.35551981G>C, NG_054633.1:g.42869G>C, NM_173607.5:c.*1547G>C, NM_173607.4:c.*1547G>C, NM_173607.3:c.*1547G>C, NM_001289022.3:c.*1547G>C, NM_001289022.2:c.*1547G>C, NM_001289022.1:c.*1547G>C, NM_001079519.1:c.*1547G>C

Select item 147605368020.

rs1476053680 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 14:35081924 (GRCh38)
14:35551130 (GRCh37)
Canonical SPDI:: NC_000014.9:35081923:C:G
Gene:: FAM177A1 (Varview), LOC101927178 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000142/2 (ALFA)
G=0.000019/5 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000014.9:g.35081924C>G, NC_000014.8:g.35551130C>G, NG_054633.1:g.42018C>G, NM_173607.5:c.*696C>G, NM_173607.4:c.*696C>G, NM_173607.3:c.*696C>G, NM_001289022.3:c.*696C>G, NM_001289022.2:c.*696C>G, NM_001289022.1:c.*696C>G, NM_001079519.1:c.*696C>G

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