SNP Links for Protein (Select 10863987) - SNP

Links from Protein

Items: 1 to 20 of 651

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Select item 14908875411.

rs1490887541 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:237882460 (GRCh38)
1:238045760 (GRCh37)
Canonical SPDI:: NC_000001.11:237882459:T:C
Gene:: ZP4 (Varview), LOC100130331 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.237882460T>C, NC_000001.10:g.238045760T>C, NG_046920.1:g.13463A>G, NM_021186.5:c.1585A>G, NM_021186.4:c.1585A>G, NM_021186.3:c.1585A>G, NP_067009.1:p.Lys529Glu

Select item 14890435642.

rs1489043564 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:237885442 (GRCh38)
1:238048742 (GRCh37)
Canonical SPDI:: NC_000001.11:237885441:G:A
Gene:: ZP4 (Varview), LOC100130331 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000062/2 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.237885442G>A, NC_000001.10:g.238048742G>A, NG_046920.1:g.10481C>T, NM_021186.5:c.1109C>T, NM_021186.4:c.1109C>T, NM_021186.3:c.1109C>T, NP_067009.1:p.Thr370Ile

Select item 14889904703.

rs1488990470 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:237882773 (GRCh38)
1:238046073 (GRCh37)
Canonical SPDI:: NC_000001.11:237882772:G:C
Gene:: ZP4 (Varview), LOC100130331 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
C=0.000546/1 (Korea1K)
HGVS:: NC_000001.11:g.237882773G>C, NC_000001.10:g.238046073G>C, NG_046920.1:g.13150C>G, NM_021186.5:c.1464C>G, NM_021186.4:c.1464C>G, NM_021186.3:c.1464C>G

Select item 14874036214.

rs1487403621 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:237885198 (GRCh38)
1:238048498 (GRCh37)
Canonical SPDI:: NC_000001.11:237885197:G:A
Gene:: ZP4 (Varview), LOC100130331 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by cluster
HGVS:: NC_000001.11:g.237885198G>A, NC_000001.10:g.238048498G>A, NG_046920.1:g.10725C>T, NM_021186.5:c.1278C>T, NM_021186.4:c.1278C>T, NM_021186.3:c.1278C>T

Select item 14862026095.

rs1486202609 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:237890107 (GRCh38)
1:238053407 (GRCh37)
Canonical SPDI:: NC_000001.11:237890106:C:G,NC_000001.11:237890106:C:T
Gene:: ZP4 (Varview), LOC100130331 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.237890107C>G, NC_000001.11:g.237890107C>T, NC_000001.10:g.238053407C>G, NC_000001.10:g.238053407C>T, NG_046920.1:g.5816G>C, NG_046920.1:g.5816G>A, NM_021186.5:c.245G>C, NM_021186.5:c.245G>A, NM_021186.4:c.245G>C, NM_021186.4:c.245G>A, NM_021186.3:c.245G>C, NM_021186.3:c.245G>A, NP_067009.1:p.Gly82Ala, NP_067009.1:p.Gly82Asp

Select item 14854678816.

rs1485467881 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:237885517 (GRCh38)
1:238048817 (GRCh37)
Canonical SPDI:: NC_000001.11:237885516:G:T
Gene:: ZP4 (Varview), LOC100130331 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.237885517G>T, NC_000001.10:g.238048817G>T, NG_046920.1:g.10406C>A, NM_021186.5:c.1034C>A, NM_021186.4:c.1034C>A, NM_021186.3:c.1034C>A, NP_067009.1:p.Pro345His

Select item 14854445397.

rs1485444539 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:237885813 (GRCh38)
1:238049113 (GRCh37)
Canonical SPDI:: NC_000001.11:237885812:G:T
Gene:: ZP4 (Varview), LOC100130331 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
T=0.000342/1 (KOREAN)
HGVS:: NC_000001.11:g.237885813G>T, NC_000001.10:g.238049113G>T, NG_046920.1:g.10110C>A, NM_021186.5:c.913C>A, NM_021186.4:c.913C>A, NM_021186.3:c.913C>A, NP_067009.1:p.Pro305Thr

Select item 14834309248.

rs1483430924 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:237885232 (GRCh38)
1:238048532 (GRCh37)
Canonical SPDI:: NC_000001.11:237885231:T:C
Gene:: ZP4 (Varview), LOC100130331 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.237885232T>C, NC_000001.10:g.238048532T>C, NG_046920.1:g.10691A>G, NM_021186.5:c.1244A>G, NM_021186.4:c.1244A>G, NM_021186.3:c.1244A>G, NP_067009.1:p.Gln415Arg

Select item 14822388379.

rs1482238837 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 1:237884772 (GRCh38)
1:238048072 (GRCh37)
Canonical SPDI:: NC_000001.11:237884771:TG:
Gene:: ZP4 (Varview), LOC100130331 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000001.11:g.237884772_237884773del, NC_000001.10:g.238048072_238048073del, NG_046920.1:g.11150_11151del, NM_021186.5:c.1386_1387del, NM_021186.4:c.1386_1387del, NM_021186.3:c.1386_1387del, NP_067009.1:p.Arg464fs

Select item 148177207510.

rs1481772075 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:237882831 (GRCh38)
1:238046131 (GRCh37)
Canonical SPDI:: NC_000001.11:237882830:T:C
Gene:: ZP4 (Varview), LOC100130331 (Varview)
Functional Consequence:: intron_variant,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)
HGVS:: NC_000001.11:g.237882831T>C, NC_000001.10:g.238046131T>C, NG_046920.1:g.13092A>G, NM_021186.5:c.1406A>G, NM_021186.4:c.1406A>G, NM_021186.3:c.1406A>G, NP_067009.1:p.Asp469Gly

Select item 148075825011.

rs1480758250 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:237890464 (GRCh38)
1:238053764 (GRCh37)
Canonical SPDI:: NC_000001.11:237890463:A:G
Gene:: ZP4 (Varview), LOC100130331 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.237890464A>G, NC_000001.10:g.238053764A>G, NG_046920.1:g.5459T>C, NM_021186.5:c.172T>C, NM_021186.4:c.172T>C, NM_021186.3:c.172T>C, NP_067009.1:p.Trp58Arg

Select item 148067619012.

rs1480676190 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATT>- [Show Flanks]
Chromosome:: 1:237882424 (GRCh38)
1:238045724 (GRCh37)
Canonical SPDI:: NC_000001.11:237882421:TTATT:TT
Gene:: ZP4 (Varview), LOC100130331 (Varview)
Functional Consequence:: inframe_deletion,intron_variant,terminator_codon_variant,stop_lost
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.237882424_237882426del, NC_000001.10:g.238045724_238045726del, NG_046920.1:g.13499_13501del, NM_021186.5:c.1621_1623del, NM_021186.4:c.1621_1623del, NM_021186.3:c.1621_1623del, NP_067009.1:p.Ter541del

Select item 147953316813.

rs1479533168 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:237885203 (GRCh38)
1:238048503 (GRCh37)
Canonical SPDI:: NC_000001.11:237885202:C:A,NC_000001.11:237885202:C:T
Gene:: ZP4 (Varview), LOC100130331 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.237885203C>A, NC_000001.11:g.237885203C>T, NC_000001.10:g.238048503C>A, NC_000001.10:g.238048503C>T, NG_046920.1:g.10720G>T, NG_046920.1:g.10720G>A, NM_021186.5:c.1273G>T, NM_021186.5:c.1273G>A, NM_021186.4:c.1273G>T, NM_021186.4:c.1273G>A, NM_021186.3:c.1273G>T, NM_021186.3:c.1273G>A, NP_067009.1:p.Val425Leu, NP_067009.1:p.Val425Met

Select item 147872700314.

rs1478727003 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:237886832 (GRCh38)
1:238050132 (GRCh37)
Canonical SPDI:: NC_000001.11:237886831:C:T
Gene:: ZP4 (Varview), LOC100130331 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000001.11:g.237886832C>T, NC_000001.10:g.238050132C>T, NG_046920.1:g.9091G>A, NM_021186.5:c.778G>A, NM_021186.4:c.778G>A, NM_021186.3:c.778G>A, NP_067009.1:p.Val260Met

Select item 147789731315.

rs1477897313 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:237890547 (GRCh38)
1:238053847 (GRCh37)
Canonical SPDI:: NC_000001.11:237890546:C:G,NC_000001.11:237890546:C:T
Gene:: ZP4 (Varview), LOC100130331 (Varview)
Functional Consequence:: intron_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_000001.11:g.237890547C>G, NC_000001.11:g.237890547C>T, NC_000001.10:g.238053847C>G, NC_000001.10:g.238053847C>T, NG_046920.1:g.5376G>C, NG_046920.1:g.5376G>A, NM_021186.5:c.89G>C, NM_021186.5:c.89G>A, NM_021186.4:c.89G>C, NM_021186.4:c.89G>A, NM_021186.3:c.89G>C, NM_021186.3:c.89G>A, NP_067009.1:p.Ser30Thr, NP_067009.1:p.Ser30Asn

Select item 147686790516.

rs1476867905 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:237890145 (GRCh38)
1:238053445 (GRCh37)
Canonical SPDI:: NC_000001.11:237890144:A:C
Gene:: ZP4 (Varview), LOC100130331 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.237890145A>C, NC_000001.10:g.238053445A>C, NG_046920.1:g.5778T>G, NM_021186.5:c.207T>G, NM_021186.4:c.207T>G, NM_021186.3:c.207T>G, NP_067009.1:p.Asn69Lys

Select item 147405180417.

rs1474051804 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:237886827 (GRCh38)
1:238050127 (GRCh37)
Canonical SPDI:: NC_000001.11:237886826:T:C
Gene:: ZP4 (Varview), LOC100130331 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.237886827T>C, NC_000001.10:g.238050127T>C, NG_046920.1:g.9096A>G, NM_021186.5:c.783A>G, NM_021186.4:c.783A>G, NM_021186.3:c.783A>G

Select item 147336564618.

rs1473365646 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 1:237885839 (GRCh38)
1:238049139 (GRCh37)
Canonical SPDI:: NC_000001.11:237885838:A:G,NC_000001.11:237885838:A:T
Gene:: ZP4 (Varview), LOC100130331 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.237885839A>G, NC_000001.11:g.237885839A>T, NC_000001.10:g.238049139A>G, NC_000001.10:g.238049139A>T, NG_046920.1:g.10084T>C, NG_046920.1:g.10084T>A, NM_021186.5:c.887T>C, NM_021186.5:c.887T>A, NM_021186.4:c.887T>C, NM_021186.4:c.887T>A, NM_021186.3:c.887T>C, NM_021186.3:c.887T>A, NP_067009.1:p.Ile296Thr, NP_067009.1:p.Ile296Asn

Select item 147177021019.

rs1471770210 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:237890530 (GRCh38)
1:238053830 (GRCh37)
Canonical SPDI:: NC_000001.11:237890529:G:A
Gene:: ZP4 (Varview), LOC100130331 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.237890530G>A, NC_000001.10:g.238053830G>A, NG_046920.1:g.5393C>T, NM_021186.5:c.106C>T, NM_021186.4:c.106C>T, NM_021186.3:c.106C>T, NP_067009.1:p.Pro36Ser

Select item 147162992520.

rs1471629925 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:237885536 (GRCh38)
1:238048836 (GRCh37)
Canonical SPDI:: NC_000001.11:237885535:C:T
Gene:: ZP4 (Varview), LOC100130331 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.237885536C>T, NC_000001.10:g.238048836C>T, NG_046920.1:g.10387G>A, NM_021186.5:c.1015G>A, NM_021186.4:c.1015G>A, NM_021186.3:c.1015G>A, NP_067009.1:p.Val339Met

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