SNP Links for Protein (Select 224451034) - SNP

Select item 14856942501.

rs1485694250 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:38309611 (GRCh38)
19:38800251 (GRCh37)
Canonical SPDI:: NC_000019.10:38309610:C:T
Gene:: YIF1B (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.38309611C>T, NC_000019.9:g.38800251C>T, NM_033557.3:c.-3G>A, NM_001039672.3:c.91G>A, NM_001039672.2:c.91G>A, NM_001039673.3:c.82G>A, NM_001039673.2:c.82G>A, NM_001039671.3:c.46G>A, NM_001039671.2:c.46G>A, NM_001145463.2:c.82G>A, NM_001145463.1:c.82G>A, NM_001145461.2:c.40G>A, NM_001145461.1:c.40G>A, NM_001145462.2:c.-3G>A, NM_001145462.1:c.-3G>A, XM_047439647.1:c.-3G>A, XM_047439648.1:c.-3G>A, NM_001031731.1:c.82G>A, NP_001034761.1:p.Gly31Ser, NP_001034762.1:p.Gly28Ser, NP_001034760.1:p.Gly16Ser, NP_001138935.1:p.Gly28Ser, NP_001138933.1:p.Gly14Ser

Select item 14807157082.

rs1480715708 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:38307674 (GRCh38)
19:38798314 (GRCh37)
Canonical SPDI:: NC_000019.10:38307673:G:A
Gene:: YIF1B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.38307674G>A, NC_000019.9:g.38798314G>A, NM_033557.3:c.525C>T, NM_001039672.3:c.618C>T, NM_001039672.2:c.618C>T, NM_001039673.3:c.609C>T, NM_001039673.2:c.609C>T, NM_001039671.3:c.573C>T, NM_001039671.2:c.573C>T, NM_001145463.2:c.609C>T, NM_001145463.1:c.609C>T, NM_001145461.2:c.567C>T, NM_001145461.1:c.567C>T, NM_001145462.2:c.525C>T, NM_001145462.1:c.525C>T, XM_047439647.1:c.525C>T, XM_047439648.1:c.525C>T, NM_001031731.1:c.609C>T

Select item 14804056143.

rs1480405614 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CCGCCA [Show Flanks]
Chromosome:: 19:38305401 (GRCh38)
19:38796042 (GRCh37)
Canonical SPDI:: NC_000019.10:38305401:CCGCCACCGCCA:CCGCCACCGCCACCGCCA
Gene:: C19orf33 (Varview), YIF1B (Varview)
Functional Consequence:: 500B_downstream_variant,inframe_insertion,downstream_transcript_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: CCGCCACCGCCACCGCCA=0./0 (ALFA)
CCGCCA=0.000015/4 (TOPMED)
HGVS:: NC_000019.10:g.38305402CCGCCA[3], NC_000019.9:g.38796042CCGCCA[3], NM_033557.3:c.791TGGCGG[3], NM_001039672.3:c.884TGGCGG[3], NM_001039672.2:c.884TGGCGG[3], NM_001039673.3:c.875TGGCGG[3], NM_001039673.2:c.875TGGCGG[3], NM_001039671.3:c.839TGGCGG[3], NM_001039671.2:c.839TGGCGG[3], NM_001145463.2:c.*76TGGCGG[3], NM_001145463.1:c.*76TGGCGG[3], NM_001145461.2:c.833TGGCGG[3], NM_001145461.1:c.833TGGCGG[3], NM_001145462.2:c.791TGGCGG[3], NM_001145462.1:c.791TGGCGG[3], XM_047439647.1:c.791TGGCGG[3], XM_047439648.1:c.791TGGCGG[3], NP_001034761.1:p.Val297_Ala298dup, NP_001034762.1:p.Val294_Ala295dup, NP_001034760.1:p.Val282_Ala283dup, NP_001138933.1:p.Val280_Ala281dup, NP_001138934.1:p.Val266_Ala267dup, XP_047295603.1:p.Val266_Ala267dup, XP_047295604.1:p.Val266_Ala267dup

Select item 14770230404.

rs1477023040 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:38305505 (GRCh38)
19:38796145 (GRCh37)
Canonical SPDI:: NC_000019.10:38305504:G:A
Gene:: C19orf33 (Varview), YIF1B (Varview)
Functional Consequence:: downstream_transcript_variant,missense_variant,coding_sequence_variant,synonymous_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.38305505G>A, NC_000019.9:g.38796145G>A, NM_033557.3:c.699C>T, NM_001039672.3:c.792C>T, NM_001039672.2:c.792C>T, NM_001039673.3:c.783C>T, NM_001039673.2:c.783C>T, NM_001039671.3:c.747C>T, NM_001039671.2:c.747C>T, NM_001145463.2:c.860C>T, NM_001145463.1:c.860C>T, NM_001145461.2:c.741C>T, NM_001145461.1:c.741C>T, NM_001145462.2:c.699C>T, NM_001145462.1:c.699C>T, XM_047439647.1:c.699C>T, XM_047439648.1:c.699C>T, NP_001138935.1:p.Ser287Phe

Select item 14733350685.

rs1473335068 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:38309471 (GRCh38)
19:38800111 (GRCh37)
Canonical SPDI:: NC_000019.10:38309470:C:T
Gene:: YIF1B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000008/2 (GnomAD_exomes)
T=0.000106/2 (TOMMO)
HGVS:: NC_000019.10:g.38309471C>T, NC_000019.9:g.38800111C>T, NM_033557.3:c.138G>A, NM_001039672.3:c.231G>A, NM_001039672.2:c.231G>A, NM_001039673.3:c.222G>A, NM_001039673.2:c.222G>A, NM_001039671.3:c.186G>A, NM_001039671.2:c.186G>A, NM_001145463.2:c.222G>A, NM_001145463.1:c.222G>A, NM_001145461.2:c.180G>A, NM_001145461.1:c.180G>A, NM_001145462.2:c.138G>A, NM_001145462.1:c.138G>A, XM_047439647.1:c.138G>A, XM_047439648.1:c.138G>A, NM_001031731.1:c.222G>A

Select item 14733044226.

rs1473304422 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 19:38309563 (GRCh38)
19:38800203 (GRCh37)
Canonical SPDI:: NC_000019.10:38309562:T:
Gene:: YIF1B (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.38309563del, NC_000019.9:g.38800203del, NM_033557.3:c.46del, NM_001039672.3:c.139del, NM_001039672.2:c.139del, NM_001039673.3:c.130del, NM_001039673.2:c.130del, NM_001039671.3:c.94del, NM_001039671.2:c.94del, NM_001145463.2:c.130del, NM_001145463.1:c.130del, NM_001145461.2:c.88del, NM_001145461.1:c.88del, NM_001145462.2:c.46del, NM_001145462.1:c.46del, XM_047439647.1:c.46del, XM_047439648.1:c.46del, NM_001031731.1:c.130del, NP_001034761.1:p.Ser47fs, NP_001034762.1:p.Ser44fs, NP_001034760.1:p.Ser32fs, NP_001138935.1:p.Ser44fs, NP_001138933.1:p.Ser30fs, NP_001138934.1:p.Ser16fs, XP_047295603.1:p.Ser16fs, XP_047295604.1:p.Ser16fs

Select item 14701240317.

rs1470124031 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GC [Show Flanks]
Chromosome:: 19:38305355 (GRCh38)
19:38795996 (GRCh37)
Canonical SPDI:: NC_000019.10:38305355:CGC:CGCGC
Gene:: C19orf33 (Varview), YIF1B (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,frameshift_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CGCGC=0./0 (ALFA)
CG=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.38305357_38305358dup, NC_000019.9:g.38795997_38795998dup, NM_033557.3:c.847_848dup, NM_001039672.3:c.940_941dup, NM_001039672.2:c.940_941dup, NM_001039673.3:c.931_932dup, NM_001039673.2:c.931_932dup, NM_001039671.3:c.895_896dup, NM_001039671.2:c.895_896dup, NM_001145463.2:c.*132_*133dup, NM_001145463.1:c.*132_*133dup, NM_001145461.2:c.889_890dup, NM_001145461.1:c.889_890dup, NM_001145462.2:c.847_848dup, NM_001145462.1:c.847_848dup, XM_047439647.1:c.847_848dup, XM_047439648.1:c.847_848dup, NP_001034761.1:p.Ter315GlyextTer?, NP_001034762.1:p.Ter312GlyextTer?, NP_001034760.1:p.Ter300GlyextTer?, NP_001138933.1:p.Ter298GlyextTer?, NP_001138934.1:p.Ter284GlyextTer?, XP_047295603.1:p.Ter284GlyextTer?, XP_047295604.1:p.Ter284GlyextTer?

Select item 14656377158.

rs1465637715 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:38309515 (GRCh38)
19:38800155 (GRCh37)
Canonical SPDI:: NC_000019.10:38309514:C:T
Gene:: YIF1B (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000019.10:g.38309515C>T, NC_000019.9:g.38800155C>T, NM_033557.3:c.94G>A, NM_001039672.3:c.187G>A, NM_001039672.2:c.187G>A, NM_001039673.3:c.178G>A, NM_001039673.2:c.178G>A, NM_001039671.3:c.142G>A, NM_001039671.2:c.142G>A, NM_001145463.2:c.178G>A, NM_001145463.1:c.178G>A, NM_001145461.2:c.136G>A, NM_001145461.1:c.136G>A, NM_001145462.2:c.94G>A, NM_001145462.1:c.94G>A, XM_047439647.1:c.94G>A, XM_047439648.1:c.94G>A, NM_001031731.1:c.178G>A, NP_001034761.1:p.Ala63Thr, NP_001034762.1:p.Ala60Thr, NP_001034760.1:p.Ala48Thr, NP_001138935.1:p.Ala60Thr, NP_001138933.1:p.Ala46Thr, NP_001138934.1:p.Ala32Thr, XP_047295603.1:p.Ala32Thr, XP_047295604.1:p.Ala32Thr

Select item 14648874219.

rs1464887421 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 19:38307637 (GRCh38)
19:38798277 (GRCh37)
Canonical SPDI:: NC_000019.10:38307636:T:C,NC_000019.10:38307636:T:G
Gene:: YIF1B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
G=0.000546/1 (Korea1K)
HGVS:: NC_000019.10:g.38307637T>C, NC_000019.10:g.38307637T>G, NC_000019.9:g.38798277T>C, NC_000019.9:g.38798277T>G, NM_033557.3:c.562A>G, NM_033557.3:c.562A>C, NM_001039672.3:c.655A>G, NM_001039672.3:c.655A>C, NM_001039672.2:c.655A>G, NM_001039672.2:c.655A>C, NM_001039673.3:c.646A>G, NM_001039673.3:c.646A>C, NM_001039673.2:c.646A>G, NM_001039673.2:c.646A>C, NM_001039671.3:c.610A>G, NM_001039671.3:c.610A>C, NM_001039671.2:c.610A>G, NM_001039671.2:c.610A>C, NM_001145463.2:c.646A>G, NM_001145463.2:c.646A>C, NM_001145463.1:c.646A>G, NM_001145463.1:c.646A>C, NM_001145461.2:c.604A>G, NM_001145461.2:c.604A>C, NM_001145461.1:c.604A>G, NM_001145461.1:c.604A>C, NM_001145462.2:c.562A>G, NM_001145462.2:c.562A>C, NM_001145462.1:c.562A>G, NM_001145462.1:c.562A>C, XM_047439647.1:c.562A>G, XM_047439647.1:c.562A>C, XM_047439648.1:c.562A>G, XM_047439648.1:c.562A>C, NM_001031731.1:c.646A>G, NM_001031731.1:c.646A>C, NP_001034761.1:p.Thr219Ala, NP_001034761.1:p.Thr219Pro, NP_001034762.1:p.Thr216Ala, NP_001034762.1:p.Thr216Pro, NP_001034760.1:p.Thr204Ala, NP_001034760.1:p.Thr204Pro, NP_001138935.1:p.Thr216Ala, NP_001138935.1:p.Thr216Pro, NP_001138933.1:p.Thr202Ala, NP_001138933.1:p.Thr202Pro, NP_001138934.1:p.Thr188Ala, NP_001138934.1:p.Thr188Pro, XP_047295603.1:p.Thr188Ala, XP_047295603.1:p.Thr188Pro, XP_047295604.1:p.Thr188Ala, XP_047295604.1:p.Thr188Pro

Select item 146187538810.

rs1461875388 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 19:38305469 (GRCh38)
19:38796109 (GRCh37)
Canonical SPDI:: NC_000019.10:38305468:T:C,NC_000019.10:38305468:T:G
Gene:: C19orf33 (Varview), YIF1B (Varview)
Functional Consequence:: 3_prime_UTR_variant,500B_downstream_variant,coding_sequence_variant,synonymous_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
C=0.000035/1 (TOMMO)
HGVS:: NC_000019.10:g.38305469T>C, NC_000019.10:g.38305469T>G, NC_000019.9:g.38796109T>C, NC_000019.9:g.38796109T>G, NM_033557.3:c.735A>G, NM_033557.3:c.735A>C, NM_001039672.3:c.828A>G, NM_001039672.3:c.828A>C, NM_001039672.2:c.828A>G, NM_001039672.2:c.828A>C, NM_001039673.3:c.819A>G, NM_001039673.3:c.819A>C, NM_001039673.2:c.819A>G, NM_001039673.2:c.819A>C, NM_001039671.3:c.783A>G, NM_001039671.3:c.783A>C, NM_001039671.2:c.783A>G, NM_001039671.2:c.783A>C, NM_001145463.2:c.*20A>G, NM_001145463.2:c.*20A>C, NM_001145463.1:c.*20A>G, NM_001145463.1:c.*20A>C, NM_001145461.2:c.777A>G, NM_001145461.2:c.777A>C, NM_001145461.1:c.777A>G, NM_001145461.1:c.777A>C, NM_001145462.2:c.735A>G, NM_001145462.2:c.735A>C, NM_001145462.1:c.735A>G, NM_001145462.1:c.735A>C, XM_047439647.1:c.735A>G, XM_047439647.1:c.735A>C, XM_047439648.1:c.735A>G, XM_047439648.1:c.735A>C

Select item 145412114711.

rs1454121147 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:38307444 (GRCh38)
19:38798084 (GRCh37)
Canonical SPDI:: NC_000019.10:38307443:G:C
Gene:: YIF1B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.38307444G>C, NC_000019.9:g.38798084G>C, NM_033557.3:c.680C>G, NM_001039672.3:c.773C>G, NM_001039672.2:c.773C>G, NM_001039673.3:c.764C>G, NM_001039673.2:c.764C>G, NM_001039671.3:c.728C>G, NM_001039671.2:c.728C>G, NM_001145463.2:c.764C>G, NM_001145463.1:c.764C>G, NM_001145461.2:c.722C>G, NM_001145461.1:c.722C>G, NM_001145462.2:c.680C>G, NM_001145462.1:c.680C>G, XM_047439647.1:c.680C>G, XM_047439648.1:c.680C>G, NM_001031731.1:c.764C>G, NP_001034761.1:p.Ala258Gly, NP_001034762.1:p.Ala255Gly, NP_001034760.1:p.Ala243Gly, NP_001138935.1:p.Ala255Gly, NP_001138933.1:p.Ala241Gly, NP_001138934.1:p.Ala227Gly, XP_047295603.1:p.Ala227Gly, XP_047295604.1:p.Ala227Gly

Select item 145376554212.

rs1453765542 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:38309036 (GRCh38)
19:38799676 (GRCh37)
Canonical SPDI:: NC_000019.10:38309035:G:T
Gene:: YIF1B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.38309036G>T, NC_000019.9:g.38799676G>T, NM_033557.3:c.331C>A, NM_001039672.3:c.424C>A, NM_001039672.2:c.424C>A, NM_001039673.3:c.415C>A, NM_001039673.2:c.415C>A, NM_001039671.3:c.379C>A, NM_001039671.2:c.379C>A, NM_001145463.2:c.415C>A, NM_001145463.1:c.415C>A, NM_001145461.2:c.373C>A, NM_001145461.1:c.373C>A, NM_001145462.2:c.331C>A, NM_001145462.1:c.331C>A, XM_047439647.1:c.331C>A, XM_047439648.1:c.331C>A, NM_001031731.1:c.415C>A, NP_001034761.1:p.Gln142Lys, NP_001034762.1:p.Gln139Lys, NP_001034760.1:p.Gln127Lys, NP_001138935.1:p.Gln139Lys, NP_001138933.1:p.Gln125Lys, NP_001138934.1:p.Gln111Lys, XP_047295603.1:p.Gln111Lys, XP_047295604.1:p.Gln111Lys

Select item 145047070413.

rs1450470704 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 19:38309600 (GRCh38)
19:38800240 (GRCh37)
Canonical SPDI:: NC_000019.10:38309599:G:C,NC_000019.10:38309599:G:T
Gene:: YIF1B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.38309600G>C, NC_000019.10:g.38309600G>T, NC_000019.9:g.38800240G>C, NC_000019.9:g.38800240G>T, NM_033557.3:c.9C>G, NM_033557.3:c.9C>A, NM_001039672.3:c.102C>G, NM_001039672.3:c.102C>A, NM_001039672.2:c.102C>G, NM_001039672.2:c.102C>A, NM_001039673.3:c.93C>G, NM_001039673.3:c.93C>A, NM_001039673.2:c.93C>G, NM_001039673.2:c.93C>A, NM_001039671.3:c.57C>G, NM_001039671.3:c.57C>A, NM_001039671.2:c.57C>G, NM_001039671.2:c.57C>A, NM_001145463.2:c.93C>G, NM_001145463.2:c.93C>A, NM_001145463.1:c.93C>G, NM_001145463.1:c.93C>A, NM_001145461.2:c.51C>G, NM_001145461.2:c.51C>A, NM_001145461.1:c.51C>G, NM_001145461.1:c.51C>A, NM_001145462.2:c.9C>G, NM_001145462.2:c.9C>A, NM_001145462.1:c.9C>G, NM_001145462.1:c.9C>A, XM_047439647.1:c.9C>G, XM_047439647.1:c.9C>A, XM_047439648.1:c.9C>G, XM_047439648.1:c.9C>A, NM_001031731.1:c.93C>G, NM_001031731.1:c.93C>A, NP_001034761.1:p.Asp34Glu, NP_001034761.1:p.Asp34Glu, NP_001034762.1:p.Asp31Glu, NP_001034762.1:p.Asp31Glu, NP_001034760.1:p.Asp19Glu, NP_001034760.1:p.Asp19Glu, NP_001138935.1:p.Asp31Glu, NP_001138935.1:p.Asp31Glu, NP_001138933.1:p.Asp17Glu, NP_001138933.1:p.Asp17Glu, NP_001138934.1:p.Asp3Glu, NP_001138934.1:p.Asp3Glu, XP_047295603.1:p.Asp3Glu, XP_047295603.1:p.Asp3Glu, XP_047295604.1:p.Asp3Glu, XP_047295604.1:p.Asp3Glu

Select item 144981018914.

rs1449810189 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:38305474 (GRCh38)
19:38796114 (GRCh37)
Canonical SPDI:: NC_000019.10:38305473:C:T
Gene:: C19orf33 (Varview), YIF1B (Varview)
Functional Consequence:: 3_prime_UTR_variant,500B_downstream_variant,coding_sequence_variant,missense_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000019.10:g.38305474C>T, NC_000019.9:g.38796114C>T, NM_033557.3:c.730G>A, NM_001039672.3:c.823G>A, NM_001039672.2:c.823G>A, NM_001039673.3:c.814G>A, NM_001039673.2:c.814G>A, NM_001039671.3:c.778G>A, NM_001039671.2:c.778G>A, NM_001145463.2:c.*15G>A, NM_001145463.1:c.*15G>A, NM_001145461.2:c.772G>A, NM_001145461.1:c.772G>A, NM_001145462.2:c.730G>A, NM_001145462.1:c.730G>A, XM_047439647.1:c.730G>A, XM_047439648.1:c.730G>A, NP_001034761.1:p.Ala275Thr, NP_001034762.1:p.Ala272Thr, NP_001034760.1:p.Ala260Thr, NP_001138933.1:p.Ala258Thr, NP_001138934.1:p.Ala244Thr, XP_047295603.1:p.Ala244Thr, XP_047295604.1:p.Ala244Thr

Select item 144652422815.

rs1446524228 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:38305429 (GRCh38)
19:38796069 (GRCh37)
Canonical SPDI:: NC_000019.10:38305428:G:A
Gene:: C19orf33 (Varview), YIF1B (Varview)
Functional Consequence:: 3_prime_UTR_variant,500B_downstream_variant,coding_sequence_variant,missense_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.38305429G>A, NC_000019.9:g.38796069G>A, NM_033557.3:c.775C>T, NM_001039672.3:c.868C>T, NM_001039672.2:c.868C>T, NM_001039673.3:c.859C>T, NM_001039673.2:c.859C>T, NM_001039671.3:c.823C>T, NM_001039671.2:c.823C>T, NM_001145463.2:c.*60C>T, NM_001145463.1:c.*60C>T, NM_001145461.2:c.817C>T, NM_001145461.1:c.817C>T, NM_001145462.2:c.775C>T, NM_001145462.1:c.775C>T, XM_047439647.1:c.775C>T, XM_047439648.1:c.775C>T, NP_001034761.1:p.Arg290Cys, NP_001034762.1:p.Arg287Cys, NP_001034760.1:p.Arg275Cys, NP_001138933.1:p.Arg273Cys, NP_001138934.1:p.Arg259Cys, XP_047295603.1:p.Arg259Cys, XP_047295604.1:p.Arg259Cys

Select item 144541345216.

rs1445413452 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:38307726 (GRCh38)
19:38798366 (GRCh37)
Canonical SPDI:: NC_000019.10:38307725:T:C
Gene:: YIF1B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.38307726T>C, NC_000019.9:g.38798366T>C, NM_033557.3:c.473A>G, NM_001039672.3:c.566A>G, NM_001039672.2:c.566A>G, NM_001039673.3:c.557A>G, NM_001039673.2:c.557A>G, NM_001039671.3:c.521A>G, NM_001039671.2:c.521A>G, NM_001145463.2:c.557A>G, NM_001145463.1:c.557A>G, NM_001145461.2:c.515A>G, NM_001145461.1:c.515A>G, NM_001145462.2:c.473A>G, NM_001145462.1:c.473A>G, XM_047439647.1:c.473A>G, XM_047439648.1:c.473A>G, NM_001031731.1:c.557A>G, NP_001034761.1:p.Gln189Arg, NP_001034762.1:p.Gln186Arg, NP_001034760.1:p.Gln174Arg, NP_001138935.1:p.Gln186Arg, NP_001138933.1:p.Gln172Arg, NP_001138934.1:p.Gln158Arg, XP_047295603.1:p.Gln158Arg, XP_047295604.1:p.Gln158Arg

Select item 144528343917.

rs1445283439 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:38305404 (GRCh38)
19:38796044 (GRCh37)
Canonical SPDI:: NC_000019.10:38305403:G:A
Gene:: C19orf33 (Varview), YIF1B (Varview)
Functional Consequence:: 3_prime_UTR_variant,500B_downstream_variant,coding_sequence_variant,missense_variant,downstream_transcript_variant
HGVS:: NC_000019.10:g.38305404G>A, NC_000019.9:g.38796044G>A, NM_033557.3:c.800C>T, NM_001039672.3:c.893C>T, NM_001039672.2:c.893C>T, NM_001039673.3:c.884C>T, NM_001039673.2:c.884C>T, NM_001039671.3:c.848C>T, NM_001039671.2:c.848C>T, NM_001145463.2:c.*85C>T, NM_001145463.1:c.*85C>T, NM_001145461.2:c.842C>T, NM_001145461.1:c.842C>T, NM_001145462.2:c.800C>T, NM_001145462.1:c.800C>T, XM_047439647.1:c.800C>T, XM_047439648.1:c.800C>T, NP_001034761.1:p.Ala298Val, NP_001034762.1:p.Ala295Val, NP_001034760.1:p.Ala283Val, NP_001138933.1:p.Ala281Val, NP_001138934.1:p.Ala267Val, XP_047295603.1:p.Ala267Val, XP_047295604.1:p.Ala267Val

Select item 144489208218.

rs1444892082 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:38307463 (GRCh38)
19:38798103 (GRCh37)
Canonical SPDI:: NC_000019.10:38307462:G:A
Gene:: YIF1B (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000051/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.38307463G>A, NC_000019.9:g.38798103G>A, NM_033557.3:c.661C>T, NM_001039672.3:c.754C>T, NM_001039672.2:c.754C>T, NM_001039673.3:c.745C>T, NM_001039673.2:c.745C>T, NM_001039671.3:c.709C>T, NM_001039671.2:c.709C>T, NM_001145463.2:c.745C>T, NM_001145463.1:c.745C>T, NM_001145461.2:c.703C>T, NM_001145461.1:c.703C>T, NM_001145462.2:c.661C>T, NM_001145462.1:c.661C>T, XM_047439647.1:c.661C>T, XM_047439648.1:c.661C>T, NM_001031731.1:c.745C>T

Select item 143926391019.

rs1439263910 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:38305478 (GRCh38)
19:38796118 (GRCh37)
Canonical SPDI:: NC_000019.10:38305477:T:C
Gene:: C19orf33 (Varview), YIF1B (Varview)
Functional Consequence:: 3_prime_UTR_variant,500B_downstream_variant,coding_sequence_variant,synonymous_variant,downstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.38305478T>C, NC_000019.9:g.38796118T>C, NM_033557.3:c.726A>G, NM_001039672.3:c.819A>G, NM_001039672.2:c.819A>G, NM_001039673.3:c.810A>G, NM_001039673.2:c.810A>G, NM_001039671.3:c.774A>G, NM_001039671.2:c.774A>G, NM_001145463.2:c.*11A>G, NM_001145463.1:c.*11A>G, NM_001145461.2:c.768A>G, NM_001145461.1:c.768A>G, NM_001145462.2:c.726A>G, NM_001145462.1:c.726A>G, XM_047439647.1:c.726A>G, XM_047439648.1:c.726A>G

Select item 143865511720.

rs1438655117 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:38309423 (GRCh38)
19:38800063 (GRCh37)
Canonical SPDI:: NC_000019.10:38309422:C:T
Gene:: YIF1B (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: T=0.0005/1 (Korea1K)
HGVS:: NC_000019.10:g.38309423C>T, NC_000019.9:g.38800063C>T, NM_033557.3:c.186G>A, NM_001039672.3:c.279G>A, NM_001039672.2:c.279G>A, NM_001039673.3:c.270G>A, NM_001039673.2:c.270G>A, NM_001039671.3:c.234G>A, NM_001039671.2:c.234G>A, NM_001145463.2:c.270G>A, NM_001145463.1:c.270G>A, NM_001145461.2:c.228G>A, NM_001145461.1:c.228G>A, NM_001145462.2:c.186G>A, NM_001145462.1:c.186G>A, XM_047439647.1:c.186G>A, XM_047439648.1:c.186G>A, NM_001031731.1:c.270G>A

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Result Filters

Clinical Significance

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Items: 1 to 20 of 309

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