SNP Links for Protein (Select 768008976) - SNP

Links from Protein

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Select item 14902762141.

rs1490276214 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:35526977 (GRCh38)
19:36017879 (GRCh37)
Canonical SPDI:: NC_000019.10:35526976:T:C
Gene:: SBSN (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.35526977T>C, NC_000019.9:g.36017879T>C, XM_011526930.3:c.1251A>G, XM_011526930.2:c.1251A>G, XM_011526930.1:c.1251A>G, XM_011526929.3:c.1251A>G, XM_011526929.2:c.1251A>G, XM_011526929.1:c.1251A>G, XM_011526931.3:c.1197A>G, XM_011526931.2:c.1197A>G, XM_011526931.1:c.1197A>G, NM_001166034.2:c.1305A>G, NM_001166034.1:c.1305A>G

Select item 14893008952.

rs1489300895 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 19:35527611 (GRCh38)
19:36018513 (GRCh37)
Canonical SPDI:: NC_000019.10:35527610:A:T
Gene:: SBSN (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.35527611A>T, NC_000019.9:g.36018513A>T, XM_011526930.3:c.617T>A, XM_011526930.2:c.617T>A, XM_011526930.1:c.617T>A, XM_011526929.3:c.671T>A, XM_011526929.2:c.671T>A, XM_011526929.1:c.671T>A, XM_011526931.3:c.671T>A, XM_011526931.2:c.671T>A, XM_011526931.1:c.671T>A, NM_001166034.2:c.671T>A, NM_001166034.1:c.671T>A, XP_011525232.1:p.Phe206Tyr, XP_011525231.1:p.Phe224Tyr, XP_011525233.1:p.Phe224Tyr, NP_001159506.1:p.Phe224Tyr

Select item 14873309443.

rs1487330944 [Homo sapiens]

Variant type:: INS
Alleles:: ->CT [Show Flanks]
Chromosome:: 19:35527342 (GRCh38)
19:36018245 (GRCh37)
Canonical SPDI:: NC_000019.10:35527342::CT
Gene:: SBSN (Varview)
Functional Consequence:: frameshift_variant,intron_variant,coding_sequence_variant
Validated:: by cluster
HGVS:: NC_000019.10:g.35527342_35527343insCT, NC_000019.9:g.36018244_36018245insCT, XM_011526930.3:c.885_886insAG, XM_011526930.2:c.885_886insAG, XM_011526930.1:c.885_886insAG, XM_011526929.3:c.939_940insAG, XM_011526929.2:c.939_940insAG, XM_011526929.1:c.939_940insAG, XM_011526931.3:c.831_832insAG, XM_011526931.2:c.831_832insAG, XM_011526931.1:c.831_832insAG, NM_001166034.2:c.939_940insAG, NM_001166034.1:c.939_940insAG, XP_011525232.1:p.Phe296fs, XP_011525231.1:p.Phe314fs, XP_011525233.1:p.Phe278fs, NP_001159506.1:p.Phe314fs

Select item 14872815434.

rs1487281543 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:35527668 (GRCh38)
19:36018570 (GRCh37)
Canonical SPDI:: NC_000019.10:35527667:C:A,NC_000019.10:35527667:C:T
Gene:: SBSN (Varview)
Functional Consequence:: splice_acceptor_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/2 (GnomAD)
A=0.000142/2 (TOMMO)
HGVS:: NC_000019.10:g.35527668C>A, NC_000019.10:g.35527668C>T, NC_000019.9:g.36018570C>A, NC_000019.9:g.36018570C>T, XM_011526929.3:c.614G>T, XM_011526929.3:c.614G>A, XM_011526929.2:c.614G>T, XM_011526929.2:c.614G>A, XM_011526929.1:c.614G>T, XM_011526929.1:c.614G>A, XM_011526931.3:c.614G>T, XM_011526931.3:c.614G>A, XM_011526931.2:c.614G>T, XM_011526931.2:c.614G>A, XM_011526931.1:c.614G>T, XM_011526931.1:c.614G>A, NM_001166034.2:c.614G>T, NM_001166034.2:c.614G>A, NM_001166034.1:c.614G>T, NM_001166034.1:c.614G>A, XP_011525231.1:p.Arg205Ile, XP_011525231.1:p.Arg205Lys, XP_011525233.1:p.Arg205Ile, XP_011525233.1:p.Arg205Lys, NP_001159506.1:p.Arg205Ile, NP_001159506.1:p.Arg205Lys

Select item 14871354305.

rs1487135430 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:35528097 (GRCh38)
19:36018999 (GRCh37)
Canonical SPDI:: NC_000019.10:35528096:C:G
Gene:: SBSN (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.35528097C>G, NC_000019.9:g.36018999C>G, NM_198538.4:c.185G>C, NM_198538.3:c.185G>C, XM_011526930.3:c.185G>C, XM_011526930.2:c.185G>C, XM_011526930.1:c.185G>C, XM_011526929.3:c.185G>C, XM_011526929.2:c.185G>C, XM_011526929.1:c.185G>C, XM_011526931.3:c.185G>C, XM_011526931.2:c.185G>C, XM_011526931.1:c.185G>C, NM_001166034.2:c.185G>C, NM_001166034.1:c.185G>C, NM_001166035.2:c.185G>C, NM_001166035.1:c.185G>C, NP_940940.1:p.Gly62Ala, XP_011525232.1:p.Gly62Ala, XP_011525231.1:p.Gly62Ala, XP_011525233.1:p.Gly62Ala, NP_001159506.1:p.Gly62Ala, NP_001159507.1:p.Gly62Ala

Select item 14852181366.

rs1485218136 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 19:35527295 (GRCh38)
19:36018197 (GRCh37)
Canonical SPDI:: NC_000019.10:35527294:A:C,NC_000019.10:35527294:A:T
Gene:: SBSN (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.0488/783 (ALFA)
T=0.00257/190 (GnomAD)
T=0.00422/71 (TOMMO)
T=0.01146/21 (Korea1K)
T=0.10678/312 (KOREAN)
HGVS:: NC_000019.10:g.35527295A>C, NC_000019.10:g.35527295A>T, NC_000019.9:g.36018197A>C, NC_000019.9:g.36018197A>T, XM_011526930.3:c.933T>G, XM_011526930.3:c.933T>A, XM_011526930.2:c.933T>G, XM_011526930.2:c.933T>A, XM_011526930.1:c.933T>G, XM_011526930.1:c.933T>A, XM_011526931.3:c.879T>G, XM_011526931.3:c.879T>A, XM_011526931.2:c.879T>G, XM_011526931.2:c.879T>A, XM_011526931.1:c.879T>G, XM_011526931.1:c.879T>A, NM_001166034.2:c.987T>G, NM_001166034.2:c.987T>A, NM_001166034.1:c.987T>G, NM_001166034.1:c.987T>A

Select item 14850061057.

rs1485006105 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:35526784 (GRCh38)
19:36017686 (GRCh37)
Canonical SPDI:: NC_000019.10:35526783:G:A
Gene:: SBSN (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.35526784G>A, NC_000019.9:g.36017686G>A, NM_198538.4:c.469C>T, NM_198538.3:c.469C>T, XM_011526930.3:c.1444C>T, XM_011526930.2:c.1444C>T, XM_011526930.1:c.1444C>T, XM_011526929.3:c.1444C>T, XM_011526929.2:c.1444C>T, XM_011526929.1:c.1444C>T, XM_011526931.3:c.1390C>T, XM_011526931.2:c.1390C>T, XM_011526931.1:c.1390C>T, NM_001166034.2:c.1498C>T, NM_001166034.1:c.1498C>T, NP_940940.1:p.His157Tyr, XP_011525232.1:p.His482Tyr, XP_011525231.1:p.His482Tyr, XP_011525233.1:p.His464Tyr, NP_001159506.1:p.His500Tyr

Select item 14825615788.

rs1482561578 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:35527516 (GRCh38)
19:36018418 (GRCh37)
Canonical SPDI:: NC_000019.10:35527515:C:A
Gene:: SBSN (Varview)
Functional Consequence:: stop_gained,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.35527516C>A, NC_000019.9:g.36018418C>A, XM_011526930.3:c.712G>T, XM_011526930.2:c.712G>T, XM_011526930.1:c.712G>T, XM_011526929.3:c.766G>T, XM_011526929.2:c.766G>T, XM_011526929.1:c.766G>T, XM_011526931.3:c.766G>T, XM_011526931.2:c.766G>T, XM_011526931.1:c.766G>T, NM_001166034.2:c.766G>T, NM_001166034.1:c.766G>T, XP_011525232.1:p.Glu238Ter, XP_011525231.1:p.Glu256Ter, XP_011525233.1:p.Glu256Ter, NP_001159506.1:p.Glu256Ter

Select item 14822839829.

rs1482283982 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:35528195 (GRCh38)
19:36019097 (GRCh37)
Canonical SPDI:: NC_000019.10:35528194:A:G
Gene:: SBSN (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.35528195A>G, NC_000019.9:g.36019097A>G, NM_198538.4:c.87T>C, NM_198538.3:c.87T>C, XM_011526930.3:c.87T>C, XM_011526930.2:c.87T>C, XM_011526930.1:c.87T>C, XM_011526929.3:c.87T>C, XM_011526929.2:c.87T>C, XM_011526929.1:c.87T>C, XM_011526931.3:c.87T>C, XM_011526931.2:c.87T>C, XM_011526931.1:c.87T>C, NM_001166034.2:c.87T>C, NM_001166034.1:c.87T>C, NM_001166035.2:c.87T>C, NM_001166035.1:c.87T>C

Select item 148151037210.

rs1481510372 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:35527159 (GRCh38)
19:36018061 (GRCh37)
Canonical SPDI:: NC_000019.10:35527158:C:T
Gene:: SBSN (Varview)
Functional Consequence:: missense_variant,intron_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.35527159C>T, NC_000019.9:g.36018061C>T, XM_011526930.3:c.1069G>A, XM_011526930.2:c.1069G>A, XM_011526930.1:c.1069G>A, XM_011526929.3:c.1069G>A, XM_011526929.2:c.1069G>A, XM_011526929.1:c.1069G>A, XM_011526931.3:c.1015G>A, XM_011526931.2:c.1015G>A, XM_011526931.1:c.1015G>A, NM_001166034.2:c.1123G>A, NM_001166034.1:c.1123G>A, XP_011525232.1:p.Gly357Arg, XP_011525231.1:p.Gly357Arg, XP_011525233.1:p.Gly339Arg, NP_001159506.1:p.Gly375Arg

Select item 148080508411.

rs1480805084 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:35528255 (GRCh38)
19:36019157 (GRCh37)
Canonical SPDI:: NC_000019.10:35528254:G:A
Gene:: SBSN (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.35528255G>A, NC_000019.9:g.36019157G>A, NM_198538.4:c.27C>T, NM_198538.3:c.27C>T, XM_011526930.3:c.27C>T, XM_011526930.2:c.27C>T, XM_011526930.1:c.27C>T, XM_011526929.3:c.27C>T, XM_011526929.2:c.27C>T, XM_011526929.1:c.27C>T, XM_011526931.3:c.27C>T, XM_011526931.2:c.27C>T, XM_011526931.1:c.27C>T, NM_001166034.2:c.27C>T, NM_001166034.1:c.27C>T, NM_001166035.2:c.27C>T, NM_001166035.1:c.27C>T

Select item 147912042412.

rs1479120424 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:35526960 (GRCh38)
19:36017862 (GRCh37)
Canonical SPDI:: NC_000019.10:35526959:A:G
Gene:: SBSN (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.35526960A>G, NC_000019.9:g.36017862A>G, XM_011526930.3:c.1268T>C, XM_011526930.2:c.1268T>C, XM_011526930.1:c.1268T>C, XM_011526929.3:c.1268T>C, XM_011526929.2:c.1268T>C, XM_011526929.1:c.1268T>C, XM_011526931.3:c.1214T>C, XM_011526931.2:c.1214T>C, XM_011526931.1:c.1214T>C, NM_001166034.2:c.1322T>C, NM_001166034.1:c.1322T>C, XP_011525232.1:p.Val423Ala, XP_011525231.1:p.Val423Ala, XP_011525233.1:p.Val405Ala, NP_001159506.1:p.Val441Ala

Select item 147908624013.

rs1479086240 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:35527358 (GRCh38)
19:36018260 (GRCh37)
Canonical SPDI:: NC_000019.10:35527357:T:C
Gene:: SBSN (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.011634/138 (ALFA)
C=0.000006/1 (GnomAD_exomes)
C=0.014716/43 (KOREAN)
HGVS:: NC_000019.10:g.35527358T>C, NC_000019.9:g.36018260T>C, XM_011526930.3:c.870A>G, XM_011526930.2:c.870A>G, XM_011526930.1:c.870A>G, XM_011526929.3:c.924A>G, XM_011526929.2:c.924A>G, XM_011526929.1:c.924A>G, XM_011526931.3:c.816A>G, XM_011526931.2:c.816A>G, XM_011526931.1:c.816A>G, NM_001166034.2:c.924A>G, NM_001166034.1:c.924A>G

Select item 147874665814.

rs1478746658 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:35527383 (GRCh38)
19:36018285 (GRCh37)
Canonical SPDI:: NC_000019.10:35527382:G:A,NC_000019.10:35527382:G:T
Gene:: SBSN (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00103/12 (ALFA)
A=0.00006/6 (GnomAD)
A=0.00604/101 (TOMMO)
A=0.025/73 (KOREAN)
HGVS:: NC_000019.10:g.35527383G>A, NC_000019.10:g.35527383G>T, NC_000019.9:g.36018285G>A, NC_000019.9:g.36018285G>T, XM_011526930.3:c.845C>T, XM_011526930.3:c.845C>A, XM_011526930.2:c.845C>T, XM_011526930.2:c.845C>A, XM_011526930.1:c.845C>T, XM_011526930.1:c.845C>A, XM_011526929.3:c.899C>T, XM_011526929.3:c.899C>A, XM_011526929.2:c.899C>T, XM_011526929.2:c.899C>A, XM_011526929.1:c.899C>T, XM_011526929.1:c.899C>A, XM_011526931.3:c.791C>T, XM_011526931.3:c.791C>A, XM_011526931.2:c.791C>T, XM_011526931.2:c.791C>A, XM_011526931.1:c.791C>T, XM_011526931.1:c.791C>A, NM_001166034.2:c.899C>T, NM_001166034.2:c.899C>A, NM_001166034.1:c.899C>T, NM_001166034.1:c.899C>A, XP_011525232.1:p.Ala282Val, XP_011525232.1:p.Ala282Asp, XP_011525231.1:p.Ala300Val, XP_011525231.1:p.Ala300Asp, XP_011525233.1:p.Ala264Val, XP_011525233.1:p.Ala264Asp, NP_001159506.1:p.Ala300Val, NP_001159506.1:p.Ala300Asp

Select item 147865778515.

rs1478657785 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 19:35527291 (GRCh38)
19:36018193 (GRCh37)
Canonical SPDI:: NC_000019.10:35527290:T:A,NC_000019.10:35527290:T:C,NC_000019.10:35527290:T:G
Gene:: SBSN (Varview)
Functional Consequence:: synonymous_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.35527291T>A, NC_000019.10:g.35527291T>C, NC_000019.10:g.35527291T>G, NC_000019.9:g.36018193T>A, NC_000019.9:g.36018193T>C, NC_000019.9:g.36018193T>G, XM_011526930.3:c.937A>T, XM_011526930.3:c.937A>G, XM_011526930.3:c.937A>C, XM_011526930.2:c.937A>T, XM_011526930.2:c.937A>G, XM_011526930.2:c.937A>C, XM_011526930.1:c.937A>T, XM_011526930.1:c.937A>G, XM_011526930.1:c.937A>C, XM_011526931.3:c.883A>T, XM_011526931.3:c.883A>G, XM_011526931.3:c.883A>C, XM_011526931.2:c.883A>T, XM_011526931.2:c.883A>G, XM_011526931.2:c.883A>C, XM_011526931.1:c.883A>T, XM_011526931.1:c.883A>G, XM_011526931.1:c.883A>C, NM_001166034.2:c.991A>T, NM_001166034.2:c.991A>G, NM_001166034.2:c.991A>C, NM_001166034.1:c.991A>T, NM_001166034.1:c.991A>G, NM_001166034.1:c.991A>C, XP_011525232.1:p.Arg313Trp, XP_011525232.1:p.Arg313Gly, XP_011525233.1:p.Arg295Trp, XP_011525233.1:p.Arg295Gly, NP_001159506.1:p.Arg331Trp, NP_001159506.1:p.Arg331Gly

Select item 147841459816.

rs1478414598 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:35527660 (GRCh38)
19:36018562 (GRCh37)
Canonical SPDI:: NC_000019.10:35527659:G:A
Gene:: SBSN (Varview)
Functional Consequence:: stop_gained,intron_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_000019.10:g.35527660G>A, NC_000019.9:g.36018562G>A, XM_011526930.3:c.568C>T, XM_011526930.2:c.568C>T, XM_011526930.1:c.568C>T, XM_011526929.3:c.622C>T, XM_011526929.2:c.622C>T, XM_011526929.1:c.622C>T, XM_011526931.3:c.622C>T, XM_011526931.2:c.622C>T, XM_011526931.1:c.622C>T, NM_001166034.2:c.622C>T, NM_001166034.1:c.622C>T, XP_011525232.1:p.Gln190Ter, XP_011525231.1:p.Gln208Ter, XP_011525233.1:p.Gln208Ter, NP_001159506.1:p.Gln208Ter

Select item 147678347417.

rs1476783474 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:35527620 (GRCh38)
19:36018522 (GRCh37)
Canonical SPDI:: NC_000019.10:35527619:G:A
Gene:: SBSN (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.35527620G>A, NC_000019.9:g.36018522G>A, XM_011526930.3:c.608C>T, XM_011526930.2:c.608C>T, XM_011526930.1:c.608C>T, XM_011526929.3:c.662C>T, XM_011526929.2:c.662C>T, XM_011526929.1:c.662C>T, XM_011526931.3:c.662C>T, XM_011526931.2:c.662C>T, XM_011526931.1:c.662C>T, NM_001166034.2:c.662C>T, NM_001166034.1:c.662C>T, XP_011525232.1:p.Thr203Ile, XP_011525231.1:p.Thr221Ile, XP_011525233.1:p.Thr221Ile, NP_001159506.1:p.Thr221Ile

Select item 147483936418.

rs1474839364 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:35527044 (GRCh38)
19:36017946 (GRCh37)
Canonical SPDI:: NC_000019.10:35527043:C:G
Gene:: SBSN (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.35527044C>G, NC_000019.9:g.36017946C>G, XM_011526930.3:c.1184G>C, XM_011526930.2:c.1184G>C, XM_011526930.1:c.1184G>C, XM_011526929.3:c.1184G>C, XM_011526929.2:c.1184G>C, XM_011526929.1:c.1184G>C, XM_011526931.3:c.1130G>C, XM_011526931.2:c.1130G>C, XM_011526931.1:c.1130G>C, NM_001166034.2:c.1238G>C, NM_001166034.1:c.1238G>C, XP_011525232.1:p.Ser395Thr, XP_011525231.1:p.Ser395Thr, XP_011525233.1:p.Ser377Thr, NP_001159506.1:p.Ser413Thr

Select item 147451128019.

rs1474511280 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:35526740 (GRCh38)
19:36017642 (GRCh37)
Canonical SPDI:: NC_000019.10:35526739:T:C
Gene:: SBSN (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00074/12 (TOMMO)
HGVS:: NC_000019.10:g.35526740T>C, NC_000019.9:g.36017642T>C, NM_198538.4:c.513A>G, NM_198538.3:c.513A>G, XM_011526930.3:c.1488A>G, XM_011526930.2:c.1488A>G, XM_011526930.1:c.1488A>G, XM_011526929.3:c.1488A>G, XM_011526929.2:c.1488A>G, XM_011526929.1:c.1488A>G, XM_011526931.3:c.1434A>G, XM_011526931.2:c.1434A>G, XM_011526931.1:c.1434A>G, NM_001166034.2:c.1542A>G, NM_001166034.1:c.1542A>G

Select item 147307751720.

rs1473077517 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 19:35524861 (GRCh38)
19:36015763 (GRCh37)
Canonical SPDI:: NC_000019.10:35524860:CA:
Gene:: SBSN (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.35524861_35524862del, NC_000019.9:g.36015763_36015764del, NM_198538.4:c.672_673del, NM_198538.3:c.672_673del, XM_011526930.3:c.1647_1648del, XM_011526930.2:c.1647_1648del, XM_011526930.1:c.1647_1648del, XM_011526929.3:c.1647_1648del, XM_011526929.2:c.1647_1648del, XM_011526929.1:c.1647_1648del, XM_011526931.3:c.1593_1594del, XM_011526931.2:c.1593_1594del, XM_011526931.1:c.1593_1594del, NM_001166034.2:c.1701_1702del, NM_001166034.1:c.1701_1702del, NM_001166035.2:c.438_439del, NM_001166035.1:c.438_439del, NP_940940.1:p.Ala226fs, XP_011525232.1:p.Ala551fs, XP_011525231.1:p.Ala551fs, XP_011525233.1:p.Ala533fs, NP_001159506.1:p.Ala569fs, NP_001159507.1:p.Ala148fs

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