SNP Links for Protein (Select 568214306) - SNP

Links from Protein

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Select item 14908060061.

rs1490806006 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:66520607 (GRCh38)
15:66812945 (GRCh37)
Canonical SPDI:: NC_000015.10:66520606:G:A
Gene:: ZWILCH (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by cluster
HGVS:: NC_000015.10:g.66520607G>A, NC_000015.9:g.66812945G>A, NM_017975.5:c.538G>A, NM_017975.4:c.538G>A, NM_017975.3:c.538G>A, XR_001751344.3:n.551G>A, XR_001751344.2:n.746G>A, XR_001751344.1:n.760G>A, NM_001287821.2:c.196G>A, NM_001287821.1:c.196G>A, NM_001287822.2:c.196G>A, NM_001287822.1:c.196G>A, NM_001287823.2:c.196G>A, NM_001287823.1:c.196G>A, XR_007064470.1:n.499G>A, NR_003105.1:n.879G>A, NP_060445.3:p.Val180Ile, NP_001274750.1:p.Val66Ile, NP_001274751.1:p.Val66Ile, NP_001274752.1:p.Val66Ile

Select item 14906725142.

rs1490672514 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 15:66540131 (GRCh38)
15:66832469 (GRCh37)
Canonical SPDI:: NC_000015.10:66540130:T:C,NC_000015.10:66540130:T:G
Gene:: ZWILCH (Varview)
Functional Consequence:: synonymous_variant,stop_gained,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
G=0.000177/3 (TOMMO)
HGVS:: NC_000015.10:g.66540131T>C, NC_000015.10:g.66540131T>G, NC_000015.9:g.66832469T>C, NC_000015.9:g.66832469T>G, NM_017975.5:c.1608T>C, NM_017975.5:c.1608T>G, NM_017975.4:c.1608T>C, NM_017975.4:c.1608T>G, NM_017975.3:c.1608T>C, NM_017975.3:c.1608T>G, XR_001751344.3:n.1621T>C, XR_001751344.3:n.1621T>G, XR_001751344.2:n.1816T>C, XR_001751344.2:n.1816T>G, XR_001751344.1:n.1830T>C, XR_001751344.1:n.1830T>G, NM_001287821.2:c.1266T>C, NM_001287821.2:c.1266T>G, NM_001287821.1:c.1266T>C, NM_001287821.1:c.1266T>G, NM_001287822.2:c.1266T>C, NM_001287822.2:c.1266T>G, NM_001287822.1:c.1266T>C, NM_001287822.1:c.1266T>G, NM_001287823.2:c.1266T>C, NM_001287823.2:c.1266T>G, NM_001287823.1:c.1266T>C, NM_001287823.1:c.1266T>G, XR_007064470.1:n.1569T>C, XR_007064470.1:n.1569T>G, NR_003105.1:n.1949T>C, NR_003105.1:n.1949T>G, NP_060445.3:p.Tyr536Ter, NP_001274750.1:p.Tyr422Ter, NP_001274751.1:p.Tyr422Ter, NP_001274752.1:p.Tyr422Ter

Select item 14828073963.

rs1482807396 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 15:66532340 (GRCh38)
15:66824678 (GRCh37)
Canonical SPDI:: NC_000015.10:66532339:G:A,NC_000015.10:66532339:G:T
Gene:: ZWILCH (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00007/1 (ALFA)
HGVS:: NC_000015.10:g.66532340G>A, NC_000015.10:g.66532340G>T, NC_000015.9:g.66824678G>A, NC_000015.9:g.66824678G>T, NM_017975.5:c.1249G>A, NM_017975.5:c.1249G>T, NM_017975.4:c.1249G>A, NM_017975.4:c.1249G>T, NM_017975.3:c.1249G>A, NM_017975.3:c.1249G>T, XR_001751344.3:n.1262G>A, XR_001751344.3:n.1262G>T, XR_001751344.2:n.1457G>A, XR_001751344.2:n.1457G>T, XR_001751344.1:n.1471G>A, XR_001751344.1:n.1471G>T, NM_001287821.2:c.907G>A, NM_001287821.2:c.907G>T, NM_001287821.1:c.907G>A, NM_001287821.1:c.907G>T, NM_001287822.2:c.907G>A, NM_001287822.2:c.907G>T, NM_001287822.1:c.907G>A, NM_001287822.1:c.907G>T, NM_001287823.2:c.907G>A, NM_001287823.2:c.907G>T, NM_001287823.1:c.907G>A, NM_001287823.1:c.907G>T, XR_007064470.1:n.1210G>A, XR_007064470.1:n.1210G>T, NR_003105.1:n.1590G>A, NR_003105.1:n.1590G>T, NP_060445.3:p.Val417Ile, NP_060445.3:p.Val417Phe, NP_001274750.1:p.Val303Ile, NP_001274750.1:p.Val303Phe, NP_001274751.1:p.Val303Ile, NP_001274751.1:p.Val303Phe, NP_001274752.1:p.Val303Ile, NP_001274752.1:p.Val303Phe

Select item 14826343964.

rs1482634396 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 15:66527344 (GRCh38)
15:66819682 (GRCh37)
Canonical SPDI:: NC_000015.10:66527343:G:C
Gene:: ZWILCH (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
HGVS:: NC_000015.10:g.66527344G>C, NC_000015.9:g.66819682G>C, NM_017975.5:c.874G>C, NM_017975.4:c.874G>C, NM_017975.3:c.874G>C, XR_001751344.3:n.887G>C, XR_001751344.2:n.1082G>C, XR_001751344.1:n.1096G>C, NM_001287821.2:c.532G>C, NM_001287821.1:c.532G>C, NM_001287822.2:c.532G>C, NM_001287822.1:c.532G>C, NM_001287823.2:c.532G>C, NM_001287823.1:c.532G>C, XR_007064470.1:n.835G>C, NR_003105.1:n.1215G>C, NP_060445.3:p.Ala292Pro, NP_001274750.1:p.Ala178Pro, NP_001274751.1:p.Ala178Pro, NP_001274752.1:p.Ala178Pro

Select item 14789704665.

rs1478970466 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 15:66528859 (GRCh38)
15:66821197 (GRCh37)
Canonical SPDI:: NC_000015.10:66528858:A:C
Gene:: ZWILCH (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000051/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000015.10:g.66528859A>C, NC_000015.9:g.66821197A>C, NM_017975.5:c.977A>C, NM_017975.4:c.977A>C, NM_017975.3:c.977A>C, XR_001751344.3:n.990A>C, XR_001751344.2:n.1185A>C, XR_001751344.1:n.1199A>C, NM_001287821.2:c.635A>C, NM_001287821.1:c.635A>C, NM_001287822.2:c.635A>C, NM_001287822.1:c.635A>C, NM_001287823.2:c.635A>C, NM_001287823.1:c.635A>C, XR_007064470.1:n.938A>C, NR_003105.1:n.1318A>C, NP_060445.3:p.Lys326Thr, NP_001274750.1:p.Lys212Thr, NP_001274751.1:p.Lys212Thr, NP_001274752.1:p.Lys212Thr

Select item 14779110096.

rs1477911009 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:66529562 (GRCh38)
15:66821900 (GRCh37)
Canonical SPDI:: NC_000015.10:66529561:A:G
Gene:: ZWILCH (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000019/5 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000015.10:g.66529562A>G, NC_000015.9:g.66821900A>G, NM_017975.5:c.1144A>G, NM_017975.4:c.1144A>G, NM_017975.3:c.1144A>G, XR_001751344.3:n.1157A>G, XR_001751344.2:n.1352A>G, XR_001751344.1:n.1366A>G, NM_001287821.2:c.802A>G, NM_001287821.1:c.802A>G, NM_001287822.2:c.802A>G, NM_001287822.1:c.802A>G, NM_001287823.2:c.802A>G, NM_001287823.1:c.802A>G, XR_007064470.1:n.1105A>G, NR_003105.1:n.1485A>G, NP_060445.3:p.Ile382Val, NP_001274750.1:p.Ile268Val, NP_001274751.1:p.Ile268Val, NP_001274752.1:p.Ile268Val

Select item 14767137157.

rs1476713715 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 15:66527302 (GRCh38)
15:66819640 (GRCh37)
Canonical SPDI:: NC_000015.10:66527301:G:A,NC_000015.10:66527301:G:C
Gene:: ZWILCH (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000094/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.66527302G>A, NC_000015.10:g.66527302G>C, NC_000015.9:g.66819640G>A, NC_000015.9:g.66819640G>C, NM_017975.5:c.832G>A, NM_017975.5:c.832G>C, NM_017975.4:c.832G>A, NM_017975.4:c.832G>C, NM_017975.3:c.832G>A, NM_017975.3:c.832G>C, XR_001751344.3:n.845G>A, XR_001751344.3:n.845G>C, XR_001751344.2:n.1040G>A, XR_001751344.2:n.1040G>C, XR_001751344.1:n.1054G>A, XR_001751344.1:n.1054G>C, NM_001287821.2:c.490G>A, NM_001287821.2:c.490G>C, NM_001287821.1:c.490G>A, NM_001287821.1:c.490G>C, NM_001287822.2:c.490G>A, NM_001287822.2:c.490G>C, NM_001287822.1:c.490G>A, NM_001287822.1:c.490G>C, NM_001287823.2:c.490G>A, NM_001287823.2:c.490G>C, NM_001287823.1:c.490G>A, NM_001287823.1:c.490G>C, XR_007064470.1:n.793G>A, XR_007064470.1:n.793G>C, NR_003105.1:n.1173G>A, NR_003105.1:n.1173G>C, NP_060445.3:p.Gly278Ser, NP_060445.3:p.Gly278Arg, NP_001274750.1:p.Gly164Ser, NP_001274750.1:p.Gly164Arg, NP_001274751.1:p.Gly164Ser, NP_001274751.1:p.Gly164Arg, NP_001274752.1:p.Gly164Ser, NP_001274752.1:p.Gly164Arg

Select item 14765811238.

rs1476581123 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 15:66536010 (GRCh38)
15:66828348 (GRCh37)
Canonical SPDI:: NC_000015.10:66536007:ATAT:AT
Gene:: ZWILCH (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: ATAT=0.000071/1 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.66536008AT[1], NC_000015.9:g.66828346AT[1], NM_017975.5:c.1419_1420del, NM_017975.4:c.1419_1420del, NM_017975.3:c.1419_1420del, XR_001751344.3:n.1430AT[1], XR_001751344.2:n.1625AT[1], XR_001751344.1:n.1639AT[1], NM_001287821.2:c.1077_1078del, NM_001287821.1:c.1077_1078del, NM_001287822.2:c.1077_1078del, NM_001287822.1:c.1077_1078del, NM_001287823.2:c.1077_1078del, NM_001287823.1:c.1077_1078del, XR_007064470.1:n.1378AT[1], NR_003105.1:n.1758AT[1], NP_060445.3:p.Leu474fs, NP_001274750.1:p.Leu360fs, NP_001274751.1:p.Leu360fs, NP_001274752.1:p.Leu360fs

Select item 14750347639.

rs1475034763 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 15:66537259 (GRCh38)
15:66829597 (GRCh37)
Canonical SPDI:: NC_000015.10:66537258:C:G
Gene:: ZWILCH (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.66537259C>G, NC_000015.9:g.66829597C>G, NM_017975.5:c.1570C>G, NM_017975.4:c.1570C>G, NM_017975.3:c.1570C>G, XR_001751344.3:n.1583C>G, XR_001751344.2:n.1778C>G, XR_001751344.1:n.1792C>G, NM_001287821.2:c.1228C>G, NM_001287821.1:c.1228C>G, NM_001287822.2:c.1228C>G, NM_001287822.1:c.1228C>G, NM_001287823.2:c.1228C>G, NM_001287823.1:c.1228C>G, XR_007064470.1:n.1531C>G, NR_003105.1:n.1911C>G, NP_060445.3:p.Gln524Glu, NP_001274750.1:p.Gln410Glu, NP_001274751.1:p.Gln410Glu, NP_001274752.1:p.Gln410Glu

Select item 147481186510.

rs1474811865 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:66535985 (GRCh38)
15:66828323 (GRCh37)
Canonical SPDI:: NC_000015.10:66535984:A:G
Gene:: ZWILCH (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000051/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.66535985A>G, NC_000015.9:g.66828323A>G, NM_017975.5:c.1394A>G, NM_017975.4:c.1394A>G, NM_017975.3:c.1394A>G, XR_001751344.3:n.1407A>G, XR_001751344.2:n.1602A>G, XR_001751344.1:n.1616A>G, NM_001287821.2:c.1052A>G, NM_001287821.1:c.1052A>G, NM_001287822.2:c.1052A>G, NM_001287822.1:c.1052A>G, NM_001287823.2:c.1052A>G, NM_001287823.1:c.1052A>G, XR_007064470.1:n.1355A>G, NR_003105.1:n.1735A>G, NP_060445.3:p.Gln465Arg, NP_001274750.1:p.Gln351Arg, NP_001274751.1:p.Gln351Arg, NP_001274752.1:p.Gln351Arg

Select item 147264961111.

rs1472649611 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 15:66518966 (GRCh38)
15:66811304 (GRCh37)
Canonical SPDI:: NC_000015.10:66518965:T:G
Gene:: ZWILCH (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_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_000015.10:g.66518966T>G, NC_000015.9:g.66811304T>G, NM_017975.5:c.408T>G, NM_017975.4:c.408T>G, NM_017975.3:c.408T>G, XR_001751344.3:n.421T>G, XR_001751344.2:n.616T>G, XR_001751344.1:n.630T>G, NM_001287821.2:c.66T>G, NM_001287821.1:c.66T>G, NM_001287822.2:c.66T>G, NM_001287822.1:c.66T>G, NM_001287823.2:c.66T>G, NM_001287823.1:c.66T>G, XR_007064470.1:n.369T>G, NR_003105.1:n.749T>G

Select item 147177668212.

rs1471776682 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 15:66527348 (GRCh38)
15:66819686 (GRCh37)
Canonical SPDI:: NC_000015.10:66527347:A:C
Gene:: ZWILCH (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000015.10:g.66527348A>C, NC_000015.9:g.66819686A>C, NM_017975.5:c.878A>C, NM_017975.4:c.878A>C, NM_017975.3:c.878A>C, XR_001751344.3:n.891A>C, XR_001751344.2:n.1086A>C, XR_001751344.1:n.1100A>C, NM_001287821.2:c.536A>C, NM_001287821.1:c.536A>C, NM_001287822.2:c.536A>C, NM_001287822.1:c.536A>C, NM_001287823.2:c.536A>C, NM_001287823.1:c.536A>C, XR_007064470.1:n.839A>C, NR_003105.1:n.1219A>C, NP_060445.3:p.Lys293Thr, NP_001274750.1:p.Lys179Thr, NP_001274751.1:p.Lys179Thr, NP_001274752.1:p.Lys179Thr

Select item 146787276413.

rs1467872764 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 15:66521159 (GRCh38)
15:66813498 (GRCh37)
Canonical SPDI:: NC_000015.10:66521159:GG:GGG
Gene:: ZWILCH (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGG=0.00131/94 (ALFA)
HGVS:: NC_000015.10:g.66521161dup, NC_000015.9:g.66813499dup, NM_017975.5:c.703dup, NM_017975.4:c.703dup, NM_017975.3:c.703dup, XR_001751344.3:n.716dup, XR_001751344.2:n.911dup, XR_001751344.1:n.925dup, NM_001287821.2:c.361dup, NM_001287821.1:c.361dup, NM_001287822.2:c.361dup, NM_001287822.1:c.361dup, NM_001287823.2:c.361dup, NM_001287823.1:c.361dup, XR_007064470.1:n.664dup, NR_003105.1:n.1044dup, NP_060445.3:p.Asp235fs, NP_001274750.1:p.Asp121fs, NP_001274751.1:p.Asp121fs, NP_001274752.1:p.Asp121fs

Select item 146767861614.

rs1467678616 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 15:66527315 (GRCh38)
15:66819653 (GRCh37)
Canonical SPDI:: NC_000015.10:66527314:G:A,NC_000015.10:66527314:G:T
Gene:: ZWILCH (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.66527315G>A, NC_000015.10:g.66527315G>T, NC_000015.9:g.66819653G>A, NC_000015.9:g.66819653G>T, NM_017975.5:c.845G>A, NM_017975.5:c.845G>T, NM_017975.4:c.845G>A, NM_017975.4:c.845G>T, NM_017975.3:c.845G>A, NM_017975.3:c.845G>T, XR_001751344.3:n.858G>A, XR_001751344.3:n.858G>T, XR_001751344.2:n.1053G>A, XR_001751344.2:n.1053G>T, XR_001751344.1:n.1067G>A, XR_001751344.1:n.1067G>T, NM_001287821.2:c.503G>A, NM_001287821.2:c.503G>T, NM_001287821.1:c.503G>A, NM_001287821.1:c.503G>T, NM_001287822.2:c.503G>A, NM_001287822.2:c.503G>T, NM_001287822.1:c.503G>A, NM_001287822.1:c.503G>T, NM_001287823.2:c.503G>A, NM_001287823.2:c.503G>T, NM_001287823.1:c.503G>A, NM_001287823.1:c.503G>T, XR_007064470.1:n.806G>A, XR_007064470.1:n.806G>T, NR_003105.1:n.1186G>A, NR_003105.1:n.1186G>T, NP_060445.3:p.Gly282Asp, NP_060445.3:p.Gly282Val, NP_001274750.1:p.Gly168Asp, NP_001274750.1:p.Gly168Val, NP_001274751.1:p.Gly168Asp, NP_001274751.1:p.Gly168Val, NP_001274752.1:p.Gly168Asp, NP_001274752.1:p.Gly168Val

Select item 146676692815.

rs1466766928 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 15:66537175 (GRCh38)
15:66829513 (GRCh37)
Canonical SPDI:: NC_000015.10:66537174:A:
Gene:: ZWILCH (Varview)
Functional Consequence:: non_coding_transcript_variant,stop_gained,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.66537175del, NC_000015.9:g.66829513del, NM_017975.5:c.1486del, NM_017975.4:c.1486del, NM_017975.3:c.1486del, XR_001751344.3:n.1499del, XR_001751344.2:n.1694del, XR_001751344.1:n.1708del, NM_001287821.2:c.1144del, NM_001287821.1:c.1144del, NM_001287822.2:c.1144del, NM_001287822.1:c.1144del, NM_001287823.2:c.1144del, NM_001287823.1:c.1144del, XR_007064470.1:n.1447del, NR_003105.1:n.1827del, NP_060445.3:p.Cys495_Ile496insTer, NP_001274750.1:p.Cys381_Ile382insTer, NP_001274751.1:p.Cys381_Ile382insTer, NP_001274752.1:p.Cys381_Ile382insTer

Select item 146639832716.

rs1466398327 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:66528933 (GRCh38)
15:66821271 (GRCh37)
Canonical SPDI:: NC_000015.10:66528932:C:T
Gene:: ZWILCH (Varview)
Functional Consequence:: non_coding_transcript_variant,stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.66528933C>T, NC_000015.9:g.66821271C>T, NM_017975.5:c.1051C>T, NM_017975.4:c.1051C>T, NM_017975.3:c.1051C>T, XR_001751344.3:n.1064C>T, XR_001751344.2:n.1259C>T, XR_001751344.1:n.1273C>T, NM_001287821.2:c.709C>T, NM_001287821.1:c.709C>T, NM_001287822.2:c.709C>T, NM_001287822.1:c.709C>T, NM_001287823.2:c.709C>T, NM_001287823.1:c.709C>T, XR_007064470.1:n.1012C>T, NR_003105.1:n.1392C>T, NP_060445.3:p.Gln351Ter, NP_001274750.1:p.Gln237Ter, NP_001274751.1:p.Gln237Ter, NP_001274752.1:p.Gln237Ter

Select item 146467745217.

rs1464677452 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:66528874 (GRCh38)
15:66821212 (GRCh37)
Canonical SPDI:: NC_000015.10:66528873:C:T
Gene:: ZWILCH (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.66528874C>T, NC_000015.9:g.66821212C>T, NM_017975.5:c.992C>T, NM_017975.4:c.992C>T, NM_017975.3:c.992C>T, XR_001751344.3:n.1005C>T, XR_001751344.2:n.1200C>T, XR_001751344.1:n.1214C>T, NM_001287821.2:c.650C>T, NM_001287821.1:c.650C>T, NM_001287822.2:c.650C>T, NM_001287822.1:c.650C>T, NM_001287823.2:c.650C>T, NM_001287823.1:c.650C>T, XR_007064470.1:n.953C>T, NR_003105.1:n.1333C>T, NP_060445.3:p.Ala331Val, NP_001274750.1:p.Ala217Val, NP_001274751.1:p.Ala217Val, NP_001274752.1:p.Ala217Val

Select item 146126474218.

rs1461264742 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:66521086 (GRCh38)
15:66813424 (GRCh37)
Canonical SPDI:: NC_000015.10:66521085:A:G
Gene:: ZWILCH (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000015.10:g.66521086A>G, NC_000015.9:g.66813424A>G, NM_017975.5:c.628A>G, NM_017975.4:c.628A>G, NM_017975.3:c.628A>G, XR_001751344.3:n.641A>G, XR_001751344.2:n.836A>G, XR_001751344.1:n.850A>G, NM_001287821.2:c.286A>G, NM_001287821.1:c.286A>G, NM_001287822.2:c.286A>G, NM_001287822.1:c.286A>G, NM_001287823.2:c.286A>G, NM_001287823.1:c.286A>G, XR_007064470.1:n.589A>G, NR_003105.1:n.969A>G, NP_060445.3:p.Lys210Glu, NP_001274750.1:p.Lys96Glu, NP_001274751.1:p.Lys96Glu, NP_001274752.1:p.Lys96Glu

Select item 146109267219.

rs1461092672 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 15:66537205 (GRCh38)
15:66829543 (GRCh37)
Canonical SPDI:: NC_000015.10:66537204:G:T
Gene:: ZWILCH (Varview)
Functional Consequence:: non_coding_transcript_variant,stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.66537205G>T, NC_000015.9:g.66829543G>T, NM_017975.5:c.1516G>T, NM_017975.4:c.1516G>T, NM_017975.3:c.1516G>T, XR_001751344.3:n.1529G>T, XR_001751344.2:n.1724G>T, XR_001751344.1:n.1738G>T, NM_001287821.2:c.1174G>T, NM_001287821.1:c.1174G>T, NM_001287822.2:c.1174G>T, NM_001287822.1:c.1174G>T, NM_001287823.2:c.1174G>T, NM_001287823.1:c.1174G>T, XR_007064470.1:n.1477G>T, NR_003105.1:n.1857G>T, NP_060445.3:p.Glu506Ter, NP_001274750.1:p.Glu392Ter, NP_001274751.1:p.Glu392Ter, NP_001274752.1:p.Glu392Ter

Select item 145884727820.

rs1458847278 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:66523729 (GRCh38)
15:66816067 (GRCh37)
Canonical SPDI:: NC_000015.10:66523728:G:A
Gene:: ZWILCH (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000015.10:g.66523729G>A, NC_000015.9:g.66816067G>A, NM_017975.5:c.800G>A, NM_017975.4:c.800G>A, NM_017975.3:c.800G>A, XR_001751344.3:n.813G>A, XR_001751344.2:n.1008G>A, XR_001751344.1:n.1022G>A, NM_001287821.2:c.458G>A, NM_001287821.1:c.458G>A, NM_001287822.2:c.458G>A, NM_001287822.1:c.458G>A, NM_001287823.2:c.458G>A, NM_001287823.1:c.458G>A, XR_007064470.1:n.761G>A, NR_003105.1:n.1141G>A, NP_060445.3:p.Arg267Lys, NP_001274750.1:p.Arg153Lys, NP_001274751.1:p.Arg153Lys, NP_001274752.1:p.Arg153Lys

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