SNP Links for Protein (Select 289547649) - SNP

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:2329095 (GRCh38)
4:2330822 (GRCh37)
Canonical SPDI:: NC_000004.12:2329094:T:C
Gene:: ZFYVE28 (Varview)
Functional Consequence:: 3_prime_UTR_variant,terminator_codon_variant,synonymous_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.2329095T>C, NC_000004.11:g.2330822T>C, NM_001172660.3:c.*47A>G, NM_001172660.2:c.*47A>G, NM_001172660.1:c.*47A>G, NM_001172658.3:c.518A>G, NM_001172658.2:c.518A>G, NM_001172658.1:c.518A>G

Select item 140656706118.

rs1406567061 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 4:2339648 (GRCh38)
4:2341375 (GRCh37)
Canonical SPDI:: NC_000004.12:2339647:G:C
Gene:: ZFYVE28 (Varview), LOC124900649 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.2339648G>C, NC_000004.11:g.2341375G>C, NM_020972.3:c.326C>G, NM_020972.2:c.326C>G, NM_001172660.3:c.116C>G, NM_001172660.2:c.116C>G, NM_001172660.1:c.116C>G, NM_001172658.3:c.185C>G, NM_001172658.2:c.185C>G, NM_001172658.1:c.185C>G, NM_001172659.2:c.116C>G, NM_001172659.1:c.116C>G, NM_001172656.2:c.326C>G, NM_001172656.1:c.326C>G, NM_001172657.2:c.326C>G, NM_001172657.1:c.326C>G, NP_066023.2:p.Ala109Gly, NP_001166131.1:p.Ala39Gly, NP_001166129.1:p.Ala62Gly, NP_001166130.1:p.Ala39Gly, NP_001166127.1:p.Ala109Gly, NP_001166128.1:p.Ala109Gly

Select item 139832580919.

rs1398325809 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:2341597 (GRCh38)
4:2343324 (GRCh37)
Canonical SPDI:: NC_000004.12:2341596:T:C
Gene:: ZFYVE28 (Varview), LOC124900649 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000004.12:g.2341597T>C, NC_000004.11:g.2343324T>C, NM_020972.3:c.199A>G, NM_020972.2:c.199A>G, NM_001172660.3:c.-12A>G, NM_001172660.2:c.-12A>G, NM_001172660.1:c.-12A>G, NM_001172658.3:c.58A>G, NM_001172658.2:c.58A>G, NM_001172658.1:c.58A>G, NM_001172659.2:c.-12A>G, NM_001172659.1:c.-12A>G, NM_001172656.2:c.199A>G, NM_001172656.1:c.199A>G, NM_001172657.2:c.199A>G, NM_001172657.1:c.199A>G, XR_007057991.1:n.1705T>C, NP_066023.2:p.Ile67Val, NP_001166129.1:p.Ile20Val, NP_001166127.1:p.Ile67Val, NP_001166128.1:p.Ile67Val

Select item 139653761720.

rs1396537617 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:2339521 (GRCh38)
4:2341248 (GRCh37)
Canonical SPDI:: NC_000004.12:2339520:G:A
Gene:: ZFYVE28 (Varview), LOC124900649 (Varview)
Functional Consequence:: 2KB_upstream_variant,synonymous_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000106/2 (TOMMO)
HGVS:: NC_000004.12:g.2339521G>A, NC_000004.11:g.2341248G>A, NM_020972.3:c.453C>T, NM_020972.2:c.453C>T, NM_001172660.3:c.243C>T, NM_001172660.2:c.243C>T, NM_001172660.1:c.243C>T, NM_001172658.3:c.312C>T, NM_001172658.2:c.312C>T, NM_001172658.1:c.312C>T, NM_001172659.2:c.243C>T, NM_001172659.1:c.243C>T, NM_001172656.2:c.453C>T, NM_001172656.1:c.453C>T, NM_001172657.2:c.453C>T, NM_001172657.1:c.453C>T

dbSNP