SNP Links for Protein (Select 312433998) - SNP

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Links from Protein

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Select item 14904643101.

rs1490464310 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AC [Show Flanks]
Chromosome:: 3:46456362 (GRCh38)
3:46497853 (GRCh37)
Canonical SPDI:: NC_000003.12:46456362:AC:ACAC
Gene:: LTF (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACAC=0./0 (ALFA)
AC=0.000008/2 (GnomAD_exomes)
AC=0.000011/3 (TOPMED)
AC=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.46456363_46456364dup, NC_000003.11:g.46497853_46497854dup, NG_023257.2:g.33871_33872dup, NM_002343.6:c.242_243dup, NM_002343.5:c.242_243dup, NM_002343.4:c.242_243dup, NM_002343.3:c.242_243dup, NM_001321122.2:c.203_204dup, NM_001321122.1:c.203_204dup, NM_001199149.2:c.110_111dup, NM_001199149.1:c.110_111dup, NM_001321121.2:c.242_243dup, NM_001321121.1:c.242_243dup, NP_002334.2:p.Phe82fs, NP_001308051.1:p.Phe69fs, NP_001186078.1:p.Phe38fs, NP_001308050.1:p.Phe82fs

Select item 14882625492.

rs1488262549 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:46441440 (GRCh38)
3:46482931 (GRCh37)
Canonical SPDI:: NC_000003.12:46441439:C:T
Gene:: LTF (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_000003.12:g.46441440C>T, NC_000003.11:g.46482931C>T, NG_023257.2:g.48795G>A, NM_002343.6:c.1699G>A, NM_002343.5:c.1699G>A, NM_002343.4:c.1699G>A, NM_002343.3:c.1699G>A, NM_001321122.2:c.1660G>A, NM_001321122.1:c.1660G>A, NM_001199149.2:c.1567G>A, NM_001199149.1:c.1567G>A, NM_001321121.2:c.1693G>A, NM_001321121.1:c.1693G>A, NP_002334.2:p.Val567Ile, NP_001308051.1:p.Val554Ile, NP_001186078.1:p.Val523Ile, NP_001308050.1:p.Val565Ile

Select item 14842636923.

rs1484263692 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:46438054 (GRCh38)
3:46479545 (GRCh37)
Canonical SPDI:: NC_000003.12:46438053:A:G
Gene:: LTF (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.46438054A>G, NC_000003.11:g.46479545A>G, NG_023257.2:g.52181T>C, NM_002343.6:c.1984T>C, NM_002343.5:c.1984T>C, NM_002343.4:c.1984T>C, NM_002343.3:c.1984T>C, NM_001321122.2:c.1945T>C, NM_001321122.1:c.1945T>C, NM_001199149.2:c.1852T>C, NM_001199149.1:c.1852T>C, NM_001321121.2:c.1978T>C, NM_001321121.1:c.1978T>C, NP_002334.2:p.Phe662Leu, NP_001308051.1:p.Phe649Leu, NP_001186078.1:p.Phe618Leu, NP_001308050.1:p.Phe660Leu

Select item 14829810874.

rs1482981087 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:46448976 (GRCh38)
3:46490467 (GRCh37)
Canonical SPDI:: NC_000003.12:46448975:A:G
Gene:: LTF (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000003.12:g.46448976A>G, NC_000003.11:g.46490467A>G, NG_023257.2:g.41259T>C, NM_002343.6:c.1099T>C, NM_002343.5:c.1099T>C, NM_002343.4:c.1099T>C, NM_002343.3:c.1099T>C, NM_001321122.2:c.1060T>C, NM_001321122.1:c.1060T>C, NM_001199149.2:c.967T>C, NM_001199149.1:c.967T>C, NM_001321121.2:c.1099T>C, NM_001321121.1:c.1099T>C, NP_002334.2:p.Cys367Arg, NP_001308051.1:p.Cys354Arg, NP_001186078.1:p.Cys323Arg, NP_001308050.1:p.Cys367Arg

Select item 14819811445.

rs1481981144 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:46438078 (GRCh38)
3:46479569 (GRCh37)
Canonical SPDI:: NC_000003.12:46438077:G:A
Gene:: LTF (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.46438078G>A, NC_000003.11:g.46479569G>A, NG_023257.2:g.52157C>T, NM_002343.6:c.1960C>T, NM_002343.5:c.1960C>T, NM_002343.4:c.1960C>T, NM_002343.3:c.1960C>T, NM_001321122.2:c.1921C>T, NM_001321122.1:c.1921C>T, NM_001199149.2:c.1828C>T, NM_001199149.1:c.1828C>T, NM_001321121.2:c.1954C>T, NM_001321121.1:c.1954C>T, NP_002334.2:p.Gln654Ter, NP_001308051.1:p.Gln641Ter, NP_001186078.1:p.Gln610Ter, NP_001308050.1:p.Gln652Ter

Select item 14796867556.

rs1479686755 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 3:46450498 (GRCh38)
3:46491988 (GRCh37)
Canonical SPDI:: NC_000003.12:46450497:T:C,NC_000003.12:46450497:T:G
Gene:: LTF (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.46450498T>C, NC_000003.12:g.46450498T>G, NC_000003.11:g.46491988T>C, NC_000003.11:g.46491988T>G, NG_023257.2:g.39737A>G, NG_023257.2:g.39737A>C, NM_002343.6:c.879A>G, NM_002343.6:c.879A>C, NM_002343.5:c.879A>G, NM_002343.5:c.879A>C, NM_002343.4:c.879A>G, NM_002343.4:c.879A>C, NM_002343.3:c.879A>G, NM_002343.3:c.879A>C, NM_001321122.2:c.840A>G, NM_001321122.2:c.840A>C, NM_001321122.1:c.840A>G, NM_001321122.1:c.840A>C, NM_001199149.2:c.747A>G, NM_001199149.2:c.747A>C, NM_001199149.1:c.747A>G, NM_001199149.1:c.747A>C, NM_001321121.2:c.879A>G, NM_001321121.2:c.879A>C, NM_001321121.1:c.879A>G, NM_001321121.1:c.879A>C

Select item 14795663257.

rs1479566325 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:46449972 (GRCh38)
3:46491462 (GRCh37)
Canonical SPDI:: NC_000003.12:46449971:C:T
Gene:: LTF (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.46449972C>T, NC_000003.11:g.46491462C>T, NG_023257.2:g.40263G>A, NM_002343.6:c.939G>A, NM_002343.5:c.939G>A, NM_002343.4:c.939G>A, NM_002343.3:c.939G>A, NM_001321122.2:c.900G>A, NM_001321122.1:c.900G>A, NM_001199149.2:c.807G>A, NM_001199149.1:c.807G>A, NM_001321121.2:c.939G>A, NM_001321121.1:c.939G>A

Select item 14774857518.

rs1477485751 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:46450628 (GRCh38)
3:46492118 (GRCh37)
Canonical SPDI:: NC_000003.12:46450627:C:T
Gene:: LTF (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.46450628C>T, NC_000003.11:g.46492118C>T, NG_023257.2:g.39607G>A, NM_002343.6:c.749G>A, NM_002343.5:c.749G>A, NM_002343.4:c.749G>A, NM_002343.3:c.749G>A, NM_001321122.2:c.710G>A, NM_001321122.1:c.710G>A, NM_001199149.2:c.617G>A, NM_001199149.1:c.617G>A, NM_001321121.2:c.749G>A, NM_001321121.1:c.749G>A, NP_002334.2:p.Cys250Tyr, NP_001308051.1:p.Cys237Tyr, NP_001186078.1:p.Cys206Tyr, NP_001308050.1:p.Cys250Tyr

Select item 14773685589.

rs1477368558 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAG>- [Show Flanks]
Chromosome:: 3:46438058 (GRCh38)
3:46479549 (GRCh37)
Canonical SPDI:: NC_000003.12:46438055:AGAAG:AG
Gene:: LTF (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: AG=0.00007/1 (ALFA)
HGVS:: NC_000003.12:g.46438058_46438060del, NC_000003.11:g.46479549_46479551del, NG_023257.2:g.52177_52179del, NM_002343.6:c.1980_1982del, NM_002343.5:c.1980_1982del, NM_002343.4:c.1980_1982del, NM_002343.3:c.1980_1982del, NM_001321122.2:c.1941_1943del, NM_001321122.1:c.1941_1943del, NM_001199149.2:c.1848_1850del, NM_001199149.1:c.1848_1850del, NM_001321121.2:c.1974_1976del, NM_001321121.1:c.1974_1976del, NP_002334.2:p.Leu661del, NP_001308051.1:p.Leu648del, NP_001186078.1:p.Leu617del, NP_001308050.1:p.Leu659del

Select item 147649121710.

rs1476491217 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:46455892 (GRCh38)
3:46497382 (GRCh37)
Canonical SPDI:: NC_000003.12:46455891:G:A
Gene:: LTF (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.46455892G>A, NC_000003.11:g.46497382G>A, NG_023257.2:g.34343C>T, NM_002343.6:c.403C>T, NM_002343.5:c.403C>T, NM_002343.4:c.403C>T, NM_002343.3:c.403C>T, NM_001321122.2:c.364C>T, NM_001321122.1:c.364C>T, NM_001199149.2:c.271C>T, NM_001199149.1:c.271C>T, NM_001321121.2:c.403C>T, NM_001321121.1:c.403C>T, NP_002334.2:p.His135Tyr, NP_001308051.1:p.His122Tyr, NP_001186078.1:p.His91Tyr, NP_001308050.1:p.His135Tyr

Select item 147578887311.

rs1475788873 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:46439403 (GRCh38)
3:46480894 (GRCh37)
Canonical SPDI:: NC_000003.12:46439402:G:A
Gene:: LTF (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.46439403G>A, NC_000003.11:g.46480894G>A, NG_023257.2:g.50832C>T, NM_002343.6:c.1801C>T, NM_002343.5:c.1801C>T, NM_002343.4:c.1801C>T, NM_002343.3:c.1801C>T, NM_001321122.2:c.1762C>T, NM_001321122.1:c.1762C>T, NM_001199149.2:c.1669C>T, NM_001199149.1:c.1669C>T, NM_001321121.2:c.1795C>T, NM_001321121.1:c.1795C>T, NP_002334.2:p.Pro601Ser, NP_001308051.1:p.Pro588Ser, NP_001186078.1:p.Pro557Ser, NP_001308050.1:p.Pro599Ser

Select item 147300085312.

rs1473000853 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:46455899 (GRCh38)
3:46497389 (GRCh37)
Canonical SPDI:: NC_000003.12:46455898:C:T
Gene:: LTF (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000003.12:g.46455899C>T, NC_000003.11:g.46497389C>T, NG_023257.2:g.34336G>A, NM_002343.6:c.396G>A, NM_002343.5:c.396G>A, NM_002343.4:c.396G>A, NM_002343.3:c.396G>A, NM_001321122.2:c.357G>A, NM_001321122.1:c.357G>A, NM_001199149.2:c.264G>A, NM_001199149.1:c.264G>A, NM_001321121.2:c.396G>A, NM_001321121.1:c.396G>A

Select item 147111655113.

rs1471116551 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:46459673 (GRCh38)
3:46501163 (GRCh37)
Canonical SPDI:: NC_000003.12:46459672:A:G
Gene:: LTF (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000003.12:g.46459673A>G, NC_000003.11:g.46501163A>G, NG_023257.2:g.30562T>C, NM_002343.6:c.190T>C, NM_002343.5:c.190T>C, NM_002343.4:c.190T>C, NM_002343.3:c.190T>C, NM_001321122.2:c.151T>C, NM_001321122.1:c.151T>C, NM_001199149.2:c.58T>C, NM_001199149.1:c.58T>C, NM_001321121.2:c.190T>C, NM_001321121.1:c.190T>C, NP_002334.2:p.Cys64Arg, NP_001308051.1:p.Cys51Arg, NP_001186078.1:p.Cys20Arg, NP_001308050.1:p.Cys64Arg

Select item 147104794114.

rs1471047941 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:46438113 (GRCh38)
3:46479604 (GRCh37)
Canonical SPDI:: NC_000003.12:46438112:T:C
Gene:: LTF (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.46438113T>C, NC_000003.11:g.46479604T>C, NG_023257.2:g.52122A>G, NM_002343.6:c.1925A>G, NM_002343.5:c.1925A>G, NM_002343.4:c.1925A>G, NM_002343.3:c.1925A>G, NM_001321122.2:c.1886A>G, NM_001321122.1:c.1886A>G, NM_001199149.2:c.1793A>G, NM_001199149.1:c.1793A>G, NM_001321121.2:c.1919A>G, NM_001321121.1:c.1919A>G, NP_002334.2:p.Asn642Ser, NP_001308051.1:p.Asn629Ser, NP_001186078.1:p.Asn598Ser, NP_001308050.1:p.Asn640Ser

Select item 146752461715.

rs1467524617 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 3:46438122 (GRCh38)
3:46479613 (GRCh37)
Canonical SPDI:: NC_000003.12:46438121:A:T
Gene:: LTF (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.46438122A>T, NC_000003.11:g.46479613A>T, NG_023257.2:g.52113T>A, NM_002343.6:c.1916T>A, NM_002343.5:c.1916T>A, NM_002343.4:c.1916T>A, NM_002343.3:c.1916T>A, NM_001321122.2:c.1877T>A, NM_001321122.1:c.1877T>A, NM_001199149.2:c.1784T>A, NM_001199149.1:c.1784T>A, NM_001321121.2:c.1910T>A, NM_001321121.1:c.1910T>A, NP_002334.2:p.Phe639Tyr, NP_001308051.1:p.Phe626Tyr, NP_001186078.1:p.Phe595Tyr, NP_001308050.1:p.Phe637Tyr

Select item 146642265216.

rs1466422652 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:46445425 (GRCh38)
3:46486916 (GRCh37)
Canonical SPDI:: NC_000003.12:46445424:C:T
Gene:: LTF (Varview)
Functional Consequence:: 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_000003.12:g.46445425C>T, NC_000003.11:g.46486916C>T, NG_023257.2:g.44810G>A, NM_002343.6:c.1369G>A, NM_002343.5:c.1369G>A, NM_002343.4:c.1369G>A, NM_002343.3:c.1369G>A, NM_001321122.2:c.1330G>A, NM_001321122.1:c.1330G>A, NM_001199149.2:c.1237G>A, NM_001199149.1:c.1237G>A, NM_001321121.2:c.1363G>A, NM_001321121.1:c.1363G>A, NP_002334.2:p.Val457Met, NP_001308051.1:p.Val444Met, NP_001186078.1:p.Val413Met, NP_001308050.1:p.Val455Met

Select item 146580912317.

rs1465809123 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:46449870 (GRCh38)
3:46491360 (GRCh37)
Canonical SPDI:: NC_000003.12:46449869:G:A
Gene:: LTF (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000003.12:g.46449870G>A, NC_000003.11:g.46491360G>A, NG_023257.2:g.40365C>T, NM_002343.6:c.1041C>T, NM_002343.5:c.1041C>T, NM_002343.4:c.1041C>T, NM_002343.3:c.1041C>T, NM_001321122.2:c.1002C>T, NM_001321122.1:c.1002C>T, NM_001199149.2:c.909C>T, NM_001199149.1:c.909C>T, NM_001321121.2:c.1041C>T, NM_001321121.1:c.1041C>T

Select item 146390518918.

rs1463905189 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:46439408 (GRCh38)
3:46480899 (GRCh37)
Canonical SPDI:: NC_000003.12:46439407:C:T
Gene:: LTF (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.46439408C>T, NC_000003.11:g.46480899C>T, NG_023257.2:g.50827G>A, NM_002343.6:c.1796G>A, NM_002343.5:c.1796G>A, NM_002343.4:c.1796G>A, NM_002343.3:c.1796G>A, NM_001321122.2:c.1757G>A, NM_001321122.1:c.1757G>A, NM_001199149.2:c.1664G>A, NM_001199149.1:c.1664G>A, NM_001321121.2:c.1790G>A, NM_001321121.1:c.1790G>A, NP_002334.2:p.Arg599Gln, NP_001308051.1:p.Arg586Gln, NP_001186078.1:p.Arg555Gln, NP_001308050.1:p.Arg597Gln

Select item 146246088719.

rs1462460887 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:46439351 (GRCh38)
3:46480842 (GRCh37)
Canonical SPDI:: NC_000003.12:46439350:A:G
Gene:: LTF (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000003.12:g.46439351A>G, NC_000003.11:g.46480842A>G, NG_023257.2:g.50884T>C, NM_002343.6:c.1853T>C, NM_002343.5:c.1853T>C, NM_002343.4:c.1853T>C, NM_002343.3:c.1853T>C, NM_001321122.2:c.1814T>C, NM_001321122.1:c.1814T>C, NM_001199149.2:c.1721T>C, NM_001199149.1:c.1721T>C, NM_001321121.2:c.1847T>C, NM_001321121.1:c.1847T>C, NP_002334.2:p.Val618Ala, NP_001308051.1:p.Val605Ala, NP_001186078.1:p.Val574Ala, NP_001308050.1:p.Val616Ala

Select item 146234192120.

rs1462341921 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:46445289 (GRCh38)
3:46486780 (GRCh37)
Canonical SPDI:: NC_000003.12:46445288:C:T
Gene:: LTF (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000035/1 (TOMMO)
T=0.000036/5 (GnomAD)
HGVS:: NC_000003.12:g.46445289C>T, NC_000003.11:g.46486780C>T, NG_023257.2:g.44946G>A, NM_002343.6:c.1505G>A, NM_002343.5:c.1505G>A, NM_002343.4:c.1505G>A, NM_002343.3:c.1505G>A, NM_001321122.2:c.1466G>A, NM_001321122.1:c.1466G>A, NM_001199149.2:c.1373G>A, NM_001199149.1:c.1373G>A, NM_001321121.2:c.1499G>A, NM_001321121.1:c.1499G>A, NP_002334.2:p.Cys502Tyr, NP_001308051.1:p.Cys489Tyr, NP_001186078.1:p.Cys458Tyr, NP_001308050.1:p.Cys500Tyr

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