SNP Links for Protein (Select 578834584) - SNP

Links from Protein

Items: 1 to 20 of 598

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Select item 14908665111.

rs1490866511 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 19:33109997 (GRCh38)
19:33600904 (GRCh37)
Canonical SPDI:: NC_000019.10:33109997:A:AA
Gene:: GPATCH1 (Varview)
Functional Consequence:: non_coding_transcript_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.33109998dup, NC_000019.9:g.33600904dup, XM_006723255.5:c.1567dup, XM_006723255.4:c.1567dup, XM_006723255.3:c.1567dup, XM_006723255.2:c.1567dup, XM_006723255.1:c.1567dup, NM_018025.3:c.1567dup, NM_018025.2:c.1567dup, NR_135270.2:n.1580dup, NR_135270.1:n.1881dup, XP_006723318.1:p.Met523fs, NP_060495.2:p.Met523fs

Select item 14880997022.

rs1488099702 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:33101563 (GRCh38)
19:33592469 (GRCh37)
Canonical SPDI:: NC_000019.10:33101562:T:C
Gene:: GPATCH1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.33101563T>C, NC_000019.9:g.33592469T>C, XM_006723255.5:c.1069T>C, XM_006723255.4:c.1069T>C, XM_006723255.3:c.1069T>C, XM_006723255.2:c.1069T>C, XM_006723255.1:c.1069T>C, NM_018025.3:c.1069T>C, NM_018025.2:c.1069T>C, NR_135270.2:n.1082T>C, NR_135270.1:n.1383T>C, XP_006723318.1:p.Ser357Pro, NP_060495.2:p.Ser357Pro

Select item 14846144033.

rs1484614403 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:33112525 (GRCh38)
19:33603431 (GRCh37)
Canonical SPDI:: NC_000019.10:33112524:A:G
Gene:: GPATCH1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.33112525A>G, NC_000019.9:g.33603431A>G, XM_006723255.5:c.1804A>G, XM_006723255.4:c.1804A>G, XM_006723255.3:c.1804A>G, XM_006723255.2:c.1804A>G, XM_006723255.1:c.1804A>G, NM_018025.3:c.1804A>G, NM_018025.2:c.1804A>G, NR_135270.2:n.1817A>G, NR_135270.1:n.2118A>G, XP_006723318.1:p.Met602Val, NP_060495.2:p.Met602Val

Select item 14843027304.

rs1484302730 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:33093415 (GRCh38)
19:33584321 (GRCh37)
Canonical SPDI:: NC_000019.10:33093414:C:G,NC_000019.10:33093414:C:T
Gene:: GPATCH1 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000224/1 (ALFA)
T=0.000007/1 (GnomAD)
G=0.000071/1 (TOMMO)
T=0.000223/1 (Estonian)
HGVS:: NC_000019.10:g.33093415C>G, NC_000019.10:g.33093415C>T, NC_000019.9:g.33584321C>G, NC_000019.9:g.33584321C>T, XM_006723255.5:c.351C>G, XM_006723255.5:c.351C>T, XM_006723255.4:c.351C>G, XM_006723255.4:c.351C>T, XM_006723255.3:c.351C>G, XM_006723255.3:c.351C>T, XM_006723255.2:c.351C>G, XM_006723255.2:c.351C>T, XM_006723255.1:c.351C>G, XM_006723255.1:c.351C>T, NM_018025.3:c.351C>G, NM_018025.3:c.351C>T, NM_018025.2:c.351C>G, NM_018025.2:c.351C>T, NR_135270.2:n.364C>G, NR_135270.2:n.364C>T, NR_135270.1:n.665C>G, NR_135270.1:n.665C>T

Select item 14822355185.

rs1482235518 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:33090783 (GRCh38)
19:33581689 (GRCh37)
Canonical SPDI:: NC_000019.10:33090782:G:T
Gene:: GPATCH1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.33090783G>T, NC_000019.9:g.33581689G>T, XM_006723255.5:c.212G>T, XM_006723255.4:c.212G>T, XM_006723255.3:c.212G>T, XM_006723255.2:c.212G>T, XM_006723255.1:c.212G>T, NM_018025.3:c.212G>T, NM_018025.2:c.212G>T, NR_135270.2:n.225G>T, NR_135270.1:n.526G>T, XP_006723318.1:p.Trp71Leu, NP_060495.2:p.Trp71Leu

Select item 14820957616.

rs1482095761 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:33096287 (GRCh38)
19:33587193 (GRCh37)
Canonical SPDI:: NC_000019.10:33096286:T:C
Gene:: GPATCH1 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.33096287T>C, NC_000019.9:g.33587193T>C, XM_006723255.5:c.693T>C, XM_006723255.4:c.693T>C, XM_006723255.3:c.693T>C, XM_006723255.2:c.693T>C, XM_006723255.1:c.693T>C, NM_018025.3:c.693T>C, NM_018025.2:c.693T>C, NR_135270.2:n.706T>C, NR_135270.1:n.1007T>C

Select item 14815984647.

rs1481598464 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:33090781 (GRCh38)
19:33581687 (GRCh37)
Canonical SPDI:: NC_000019.10:33090780:A:G
Gene:: GPATCH1 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000019.10:g.33090781A>G, NC_000019.9:g.33581687A>G, XM_006723255.5:c.210A>G, XM_006723255.4:c.210A>G, XM_006723255.3:c.210A>G, XM_006723255.2:c.210A>G, XM_006723255.1:c.210A>G, NM_018025.3:c.210A>G, NM_018025.2:c.210A>G, NR_135270.2:n.223A>G, NR_135270.1:n.524A>G

Select item 14786260988.

rs1478626098 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:33081204 (GRCh38)
19:33572110 (GRCh37)
Canonical SPDI:: NC_000019.10:33081203:G:A
Gene:: GPATCH1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.33081204G>A, NC_000019.9:g.33572110G>A, XM_006723255.5:c.11G>A, XM_006723255.4:c.11G>A, XM_006723255.3:c.11G>A, XM_006723255.2:c.11G>A, XM_006723255.1:c.11G>A, NM_018025.3:c.11G>A, NM_018025.2:c.11G>A, NR_135270.2:n.24G>A, NR_135270.1:n.325G>A, XP_006723318.1:p.Arg4Gln, NP_060495.2:p.Arg4Gln

Select item 14763833789.

rs1476383378 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 19:33106724 (GRCh38)
19:33597631 (GRCh37)
Canonical SPDI:: NC_000019.10:33106724:T:TT
Gene:: GPATCH1 (Varview)
Functional Consequence:: non_coding_transcript_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: TT=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.33106725dup, NC_000019.9:g.33597631dup, XM_006723255.5:c.1111dup, XM_006723255.4:c.1111dup, XM_006723255.3:c.1111dup, XM_006723255.2:c.1111dup, XM_006723255.1:c.1111dup, NM_018025.3:c.1111dup, NM_018025.2:c.1111dup, NR_135270.2:n.1124dup, NR_135270.1:n.1425dup, XP_006723318.1:p.Tyr371fs, NP_060495.2:p.Tyr371fs

Select item 147605666810.

rs1476056668 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:33097787 (GRCh38)
19:33588693 (GRCh37)
Canonical SPDI:: NC_000019.10:33097786:T:C
Gene:: GPATCH1 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_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_000019.10:g.33097787T>C, NC_000019.9:g.33588693T>C, XM_006723255.5:c.885T>C, XM_006723255.4:c.885T>C, XM_006723255.3:c.885T>C, XM_006723255.2:c.885T>C, XM_006723255.1:c.885T>C, NM_018025.3:c.885T>C, NM_018025.2:c.885T>C, NR_135270.2:n.898T>C, NR_135270.1:n.1199T>C

Select item 147419202111.

rs1474192021 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 19:33096440 (GRCh38)
19:33587346 (GRCh37)
Canonical SPDI:: NC_000019.10:33096439:A:T
Gene:: GPATCH1 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_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.33096440A>T, NC_000019.9:g.33587346A>T, XM_006723255.5:c.846A>T, XM_006723255.4:c.846A>T, XM_006723255.3:c.846A>T, XM_006723255.2:c.846A>T, XM_006723255.1:c.846A>T, NM_018025.3:c.846A>T, NM_018025.2:c.846A>T, NR_135270.2:n.859A>T, NR_135270.1:n.1160A>T

Select item 147392948012.

rs1473929480 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:33088235 (GRCh38)
19:33579141 (GRCh37)
Canonical SPDI:: NC_000019.10:33088234:G:T
Gene:: GPATCH1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.33088235G>T, NC_000019.9:g.33579141G>T, XM_006723255.5:c.175G>T, XM_006723255.4:c.175G>T, XM_006723255.3:c.175G>T, XM_006723255.2:c.175G>T, XM_006723255.1:c.175G>T, NM_018025.3:c.175G>T, NM_018025.2:c.175G>T, NR_135270.2:n.188G>T, NR_135270.1:n.489G>T, XP_006723318.1:p.Ala59Ser, NP_060495.2:p.Ala59Ser

Select item 147262038513.

rs1472620385 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:33081260 (GRCh38)
19:33572166 (GRCh37)
Canonical SPDI:: NC_000019.10:33081259:G:C
Gene:: GPATCH1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.33081260G>C, NC_000019.9:g.33572166G>C, XM_006723255.5:c.67G>C, XM_006723255.4:c.67G>C, XM_006723255.3:c.67G>C, XM_006723255.2:c.67G>C, XM_006723255.1:c.67G>C, NM_018025.3:c.67G>C, NM_018025.2:c.67G>C, NR_135270.2:n.80G>C, NR_135270.1:n.381G>C, XP_006723318.1:p.Glu23Gln, NP_060495.2:p.Glu23Gln

Select item 147167614214.

rs1471676142 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:33109888 (GRCh38)
19:33600794 (GRCh37)
Canonical SPDI:: NC_000019.10:33109887:C:T
Gene:: GPATCH1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.33109888C>T, NC_000019.9:g.33600794C>T, XM_006723255.5:c.1457C>T, XM_006723255.4:c.1457C>T, XM_006723255.3:c.1457C>T, XM_006723255.2:c.1457C>T, XM_006723255.1:c.1457C>T, NM_018025.3:c.1457C>T, NM_018025.2:c.1457C>T, NR_135270.2:n.1470C>T, NR_135270.1:n.1771C>T, XP_006723318.1:p.Ser486Phe, NP_060495.2:p.Ser486Phe

Select item 147017652915.

rs1470176529 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:33109762 (GRCh38)
19:33600668 (GRCh37)
Canonical SPDI:: NC_000019.10:33109761:A:G
Gene:: GPATCH1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.33109762A>G, NC_000019.9:g.33600668A>G, XM_006723255.5:c.1331A>G, XM_006723255.4:c.1331A>G, XM_006723255.3:c.1331A>G, XM_006723255.2:c.1331A>G, XM_006723255.1:c.1331A>G, NM_018025.3:c.1331A>G, NM_018025.2:c.1331A>G, NR_135270.2:n.1344A>G, NR_135270.1:n.1645A>G, XP_006723318.1:p.Glu444Gly, NP_060495.2:p.Glu444Gly

Select item 146963877816.

rs1469638778 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 19:33093475 (GRCh38)
19:33584381 (GRCh37)
Canonical SPDI:: NC_000019.10:33093474:T:
Gene:: GPATCH1 (Varview)
Functional Consequence:: non_coding_transcript_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.33093475del, NC_000019.9:g.33584381del, XM_006723255.5:c.411del, XM_006723255.4:c.411del, XM_006723255.3:c.411del, XM_006723255.2:c.411del, XM_006723255.1:c.411del, NM_018025.3:c.411del, NM_018025.2:c.411del, NR_135270.2:n.424del, NR_135270.1:n.725del, XP_006723318.1:p.Ile138fs, NP_060495.2:p.Ile138fs

Select item 146902066717.

rs1469020667 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:33109727 (GRCh38)
19:33600633 (GRCh37)
Canonical SPDI:: NC_000019.10:33109726:T:G
Gene:: GPATCH1 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000028/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.33109727T>G, NC_000019.9:g.33600633T>G, XM_006723255.5:c.1296T>G, XM_006723255.4:c.1296T>G, XM_006723255.3:c.1296T>G, XM_006723255.2:c.1296T>G, XM_006723255.1:c.1296T>G, NM_018025.3:c.1296T>G, NM_018025.2:c.1296T>G, NR_135270.2:n.1309T>G, NR_135270.1:n.1610T>G

Select item 146792946918.

rs1467929469 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:33096319 (GRCh38)
19:33587225 (GRCh37)
Canonical SPDI:: NC_000019.10:33096318:A:G
Gene:: GPATCH1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.33096319A>G, NC_000019.9:g.33587225A>G, XM_006723255.5:c.725A>G, XM_006723255.4:c.725A>G, XM_006723255.3:c.725A>G, XM_006723255.2:c.725A>G, XM_006723255.1:c.725A>G, NM_018025.3:c.725A>G, NM_018025.2:c.725A>G, NR_135270.2:n.738A>G, NR_135270.1:n.1039A>G, XP_006723318.1:p.Asp242Gly, NP_060495.2:p.Asp242Gly

Select item 146749040419.

rs1467490404 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:33096417 (GRCh38)
19:33587323 (GRCh37)
Canonical SPDI:: NC_000019.10:33096416:A:G
Gene:: GPATCH1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_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_000019.10:g.33096417A>G, NC_000019.9:g.33587323A>G, XM_006723255.5:c.823A>G, XM_006723255.4:c.823A>G, XM_006723255.3:c.823A>G, XM_006723255.2:c.823A>G, XM_006723255.1:c.823A>G, NM_018025.3:c.823A>G, NM_018025.2:c.823A>G, NR_135270.2:n.836A>G, NR_135270.1:n.1137A>G, XP_006723318.1:p.Lys275Glu, NP_060495.2:p.Lys275Glu

Select item 146651418220.

rs1466514182 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:33093404 (GRCh38)
19:33584310 (GRCh37)
Canonical SPDI:: NC_000019.10:33093403:G:A
Gene:: GPATCH1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.33093404G>A, NC_000019.9:g.33584310G>A, XM_006723255.5:c.340G>A, XM_006723255.4:c.340G>A, XM_006723255.3:c.340G>A, XM_006723255.2:c.340G>A, XM_006723255.1:c.340G>A, NM_018025.3:c.340G>A, NM_018025.2:c.340G>A, NR_135270.2:n.353G>A, NR_135270.1:n.654G>A, XP_006723318.1:p.Asp114Asn, NP_060495.2:p.Asp114Asn

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