SNP Links for Protein (Select 13899255) - SNP

Links from Protein

Items: 1 to 20 of 762

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Select item 14908410781.

rs1490841078 [Homo sapiens]

Variant type:: INS
Alleles:: ->CCCA [Show Flanks]
Chromosome:: 11:119345892 (GRCh38)
11:119216603 (GRCh37)
Canonical SPDI:: NC_000011.10:119345892::CCCA
Gene:: MFRP (Varview), C1QTNF5 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency,by cluster
MAF:: CCCA=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.119345892_119345893insCCCA, NC_000011.9:g.119216602_119216603insCCCA, NG_012235.1:g.5781_5782insTGGG, NM_015645.5:c.-2330_-2329insTGGG, NM_015645.4:c.-2330_-2329insTGGG, NM_031433.4:c.307_308insTGGG, NM_031433.3:c.307_308insTGGG, NP_113621.1:p.Ser103fs

Select item 14899351622.

rs1489935162 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 11:119344903 (GRCh38)
11:119215613 (GRCh37)
Canonical SPDI:: NC_000011.10:119344902:G:A,NC_000011.10:119344902:G:C
Gene:: MFRP (Varview), C1QTNF5 (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.119344903G>A, NC_000011.10:g.119344903G>C, NC_000011.9:g.119215613G>A, NC_000011.9:g.119215613G>C, NG_012235.1:g.6771C>T, NG_012235.1:g.6771C>G, NM_015645.5:c.-1894C>T, NM_015645.5:c.-1894C>G, NM_015645.4:c.-1894C>T, NM_015645.4:c.-1894C>G, NM_031433.4:c.743C>T, NM_031433.4:c.743C>G, NM_031433.3:c.743C>T, NM_031433.3:c.743C>G, NP_113621.1:p.Ala248Val, NP_113621.1:p.Ala248Gly

Select item 14866857243.

rs1486685724 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:119345532 (GRCh38)
11:119216242 (GRCh37)
Canonical SPDI:: NC_000011.10:119345531:C:T
Gene:: MFRP (Varview), C1QTNF5 (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
HGVS:: NC_000011.10:g.119345532C>T, NC_000011.9:g.119216242C>T, NG_012235.1:g.6142G>A, NM_015645.5:c.-2108G>A, NM_015645.4:c.-2108G>A, NM_031433.4:c.529G>A, NM_031433.3:c.529G>A, NP_113621.1:p.Ala177Thr

Select item 14862459484.

rs1486245948 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:119344955 (GRCh38)
11:119215665 (GRCh37)
Canonical SPDI:: NC_000011.10:119344954:G:A
Gene:: MFRP (Varview), C1QTNF5 (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
HGVS:: NC_000011.10:g.119344955G>A, NC_000011.9:g.119215665G>A, NG_012235.1:g.6719C>T, NM_015645.5:c.-1946C>T, NM_015645.4:c.-1946C>T, NM_031433.4:c.691C>T, NM_031433.3:c.691C>T, NP_113621.1:p.Leu231Phe

Select item 14861051885.

rs1486105188 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:119342622 (GRCh38)
11:119213332 (GRCh37)
Canonical SPDI:: NC_000011.10:119342621:C:T
Gene:: MFRP (Varview), C1QTNF5 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,5_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.119342622C>T, NC_000011.9:g.119213332C>T, NG_012235.1:g.9052G>A, NM_015645.5:c.-1276G>A, NM_015645.4:c.-1276G>A, NM_031433.4:c.1361G>A, NM_031433.3:c.1361G>A, NP_113621.1:p.Cys454Tyr

Select item 14846186516.

rs1484618651 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:119345471 (GRCh38)
11:119216181 (GRCh37)
Canonical SPDI:: NC_000011.10:119345470:C:T
Gene:: MFRP (Varview), C1QTNF5 (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000011.10:g.119345471C>T, NC_000011.9:g.119216181C>T, NG_012235.1:g.6203G>A, NM_015645.5:c.-2047G>A, NM_015645.4:c.-2047G>A, NM_031433.4:c.590G>A, NM_031433.3:c.590G>A, NP_113621.1:p.Cys197Tyr

Select item 14810470967.

rs1481047096 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:119345522 (GRCh38)
11:119216232 (GRCh37)
Canonical SPDI:: NC_000011.10:119345521:T:C
Gene:: MFRP (Varview), C1QTNF5 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000011.10:g.119345522T>C, NC_000011.9:g.119216232T>C, NG_012235.1:g.6152A>G, NM_015645.5:c.-2098A>G, NM_015645.4:c.-2098A>G, NM_031433.4:c.539A>G, NM_031433.3:c.539A>G, NP_113621.1:p.His180Arg

Select item 14779183888.

rs1477918388 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:119346149 (GRCh38)
11:119216859 (GRCh37)
Canonical SPDI:: NC_000011.10:119346148:A:G
Gene:: MFRP (Varview), C1QTNF5 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.119346149A>G, NC_000011.9:g.119216859A>G, NG_012235.1:g.5525T>C, NM_015645.5:c.-2469T>C, NM_015645.4:c.-2469T>C, NM_031433.4:c.168T>C, NM_031433.3:c.168T>C

Select item 14745864999.

rs1474586499 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:119344905 (GRCh38)
11:119215615 (GRCh37)
Canonical SPDI:: NC_000011.10:119344904:A:C
Gene:: MFRP (Varview), C1QTNF5 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000011.10:g.119344905A>C, NC_000011.9:g.119215615A>C, NG_012235.1:g.6769T>G, NM_015645.5:c.-1896T>G, NM_015645.4:c.-1896T>G, NM_031433.4:c.741T>G, NM_031433.3:c.741T>G, NP_113621.1:p.His247Gln

Select item 147364382910.

rs1473643829 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:119341966 (GRCh38)
11:119212676 (GRCh37)
Canonical SPDI:: NC_000011.10:119341965:A:G
Gene:: MFRP (Varview), C1QTNF5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000047/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.119341966A>G, NC_000011.9:g.119212676A>G, NG_012235.1:g.9708T>C, NM_015645.5:c.-1231T>C, NM_015645.4:c.-1231T>C, NM_031433.4:c.1406T>C, NM_031433.3:c.1406T>C, NP_113621.1:p.Val469Ala

Select item 147261111111.

rs1472611111 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:119345504 (GRCh38)
11:119216214 (GRCh37)
Canonical SPDI:: NC_000011.10:119345503:A:G
Gene:: MFRP (Varview), C1QTNF5 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.119345504A>G, NC_000011.9:g.119216214A>G, NG_012235.1:g.6170T>C, NM_015645.5:c.-2080T>C, NM_015645.4:c.-2080T>C, NM_031433.4:c.557T>C, NM_031433.3:c.557T>C, NP_113621.1:p.Ile186Thr

Select item 147103931012.

rs1471039310 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:119344971 (GRCh38)
11:119215681 (GRCh37)
Canonical SPDI:: NC_000011.10:119344970:G:T
Gene:: MFRP (Varview), C1QTNF5 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,coding_sequence_variant,missense_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_000011.10:g.119344971G>T, NC_000011.9:g.119215681G>T, NG_012235.1:g.6703C>A, NM_015645.5:c.-1962C>A, NM_015645.4:c.-1962C>A, NM_031433.4:c.675C>A, NM_031433.3:c.675C>A, NP_113621.1:p.Asn225Lys

Select item 147065078513.

rs1470650785 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 11:119344741 (GRCh38)
11:119215451 (GRCh37)
Canonical SPDI:: NC_000011.10:119344740:A:G,NC_000011.10:119344740:A:T
Gene:: MFRP (Varview), C1QTNF5 (Varview)
Functional Consequence:: synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,missense_variant
HGVS:: NC_000011.10:g.119344741A>G, NC_000011.10:g.119344741A>T, NC_000011.9:g.119215451A>G, NC_000011.9:g.119215451A>T, NG_012235.1:g.6933T>C, NG_012235.1:g.6933T>A, NM_015645.5:c.-1848T>C, NM_015645.5:c.-1848T>A, NM_015645.4:c.-1848T>C, NM_015645.4:c.-1848T>A, NM_031433.4:c.789T>C, NM_031433.4:c.789T>A, NM_031433.3:c.789T>C, NM_031433.3:c.789T>A, NP_113621.1:p.Asp263Glu

Select item 147042814514.

rs1470428145 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 11:119341771 (GRCh38)
11:119212481 (GRCh37)
Canonical SPDI:: NC_000011.10:119341770:C:G,NC_000011.10:119341770:C:T
Gene:: MFRP (Varview), C1QTNF5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (GnomAD)
G=0./0 (Korea1K)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.119341771C>G, NC_000011.10:g.119341771C>T, NC_000011.9:g.119212481C>G, NC_000011.9:g.119212481C>T, NG_012235.1:g.9903G>C, NG_012235.1:g.9903G>A, NM_015645.5:c.-1120G>C, NM_015645.5:c.-1120G>A, NM_015645.4:c.-1120G>C, NM_015645.4:c.-1120G>A, NM_031433.4:c.1517G>C, NM_031433.4:c.1517G>A, NM_031433.3:c.1517G>C, NM_031433.3:c.1517G>A, NP_113621.1:p.Ser506Thr, NP_113621.1:p.Ser506Asn

Select item 147008423115.

rs1470084231 has merged into rs1435204327 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GG [Show Flanks]
Chromosome:: 11:119344980 (GRCh38)
11:119215690 (GRCh37)
Canonical SPDI:: NC_000011.10:119344979:GGGGGG:GGGGG,NC_000011.10:119344979:GGGGGG:GGGGGGG
Gene:: MFRP (Varview), C1QTNF5 (Varview)
Functional Consequence:: 5_prime_UTR_variant,frameshift_variant,coding_sequence_variant,genic_upstream_transcript_variant
Clinical significance:: pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGG=0./0 (ALFA)
-=0.000013/3 (GnomAD_exomes)
HGVS:: NC_000011.10:g.119344985del, NC_000011.10:g.119344985dup, NC_000011.9:g.119215695del, NC_000011.9:g.119215695dup, NG_012235.1:g.6694del, NG_012235.1:g.6694dup, NM_015645.5:c.-1971del, NM_015645.5:c.-1971dup, NM_015645.4:c.-1971del, NM_015645.4:c.-1971dup, NM_031433.4:c.666del, NM_031433.4:c.666dup, NM_031433.3:c.666del, NM_031433.3:c.666dup, NP_113621.1:p.Thr223fs, NP_113621.1:p.Thr223fs

Select item 146859083816.

rs1468590838 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:119346283 (GRCh38)
11:119216993 (GRCh37)
Canonical SPDI:: NC_000011.10:119346282:G:A,NC_000011.10:119346282:G:T
Gene:: MFRP (Varview), C1QTNF5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.119346283G>A, NC_000011.10:g.119346283G>T, NC_000011.9:g.119216993G>A, NC_000011.9:g.119216993G>T, NG_012235.1:g.5391C>T, NG_012235.1:g.5391C>A, NM_015645.5:c.-2491C>T, NM_015645.5:c.-2491C>A, NM_015645.4:c.-2491C>T, NM_015645.4:c.-2491C>A, NM_031433.4:c.146C>T, NM_031433.4:c.146C>A, NM_031433.3:c.146C>T, NM_031433.3:c.146C>A, NP_113621.1:p.Ala49Val, NP_113621.1:p.Ala49Asp

Select item 146679342617.

rs1466793426 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 11:119346367 (GRCh38)
11:119217077 (GRCh37)
Canonical SPDI:: NC_000011.10:119346366:A:T
Gene:: MFRP (Varview), C1QTNF5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.119346367A>T, NC_000011.9:g.119217077A>T, NG_012235.1:g.5307T>A, NM_015645.5:c.-2575T>A, NM_015645.4:c.-2575T>A, NM_031433.4:c.62T>A, NM_031433.3:c.62T>A, NP_113621.1:p.Phe21Tyr

Select item 146643446618.

rs1466434466 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:119343874 (GRCh38)
11:119214584 (GRCh37)
Canonical SPDI:: NC_000011.10:119343873:A:G
Gene:: MFRP (Varview), C1QTNF5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.119343874A>G, NC_000011.9:g.119214584A>G, NG_012235.1:g.7800T>C, NM_015645.5:c.-1571T>C, NM_015645.4:c.-1571T>C, NM_031433.4:c.1066T>C, NM_031433.3:c.1066T>C, NP_113621.1:p.Phe356Leu

Select item 146596044019.

rs1465960440 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:119346119 (GRCh38)
11:119216829 (GRCh37)
Canonical SPDI:: NC_000011.10:119346118:G:A
Gene:: MFRP (Varview), C1QTNF5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant,5_prime_UTR_variant
HGVS:: NC_000011.10:g.119346119G>A, NC_000011.9:g.119216829G>A, NG_012235.1:g.5555C>T, NM_015645.5:c.-2439C>T, NM_015645.4:c.-2439C>T, NM_031433.4:c.198C>T, NM_031433.3:c.198C>T

Select item 145995188720.

rs1459951887 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:119345911 (GRCh38)
11:119216621 (GRCh37)
Canonical SPDI:: NC_000011.10:119345910:G:C
Gene:: MFRP (Varview), C1QTNF5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.119345911G>C, NC_000011.9:g.119216621G>C, NG_012235.1:g.5763C>G, NM_015645.5:c.-2348C>G, NM_015645.4:c.-2348C>G, NM_031433.4:c.289C>G, NM_031433.3:c.289C>G, NP_113621.1:p.Pro97Ala

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