SNP Links for Protein (Select 40217788) - SNP

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Links from Protein

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Select item 14907859541.

rs1490785954 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAA>- [Show Flanks]
Chromosome:: 4:122743573 (GRCh38)
4:123664728 (GRCh37)
Canonical SPDI:: NC_000004.12:122743570:AAGAA:AA
Gene:: BBS12 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,inframe_deletion,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
-=0.000008/2 (GnomAD_exomes)
-=0.000008/2 (TOPMED)
-=0.000071/2 (TOMMO)
HGVS:: NC_000004.12:g.122743573_122743575del, NC_000004.11:g.123664728_123664730del, NG_021203.1:g.15872_15874del, NM_152618.3:c.1681_1683del, NM_152618.2:c.1681_1683del, NM_001178007.2:c.1681_1683del, NM_001178007.1:c.1681_1683del, XM_011531680.3:c.1681_1683del, XM_011531680.2:c.1681_1683del, XM_011531680.1:c.1681_1683del, NP_689831.2:p.Glu561del, NP_001171478.1:p.Glu561del, XP_011529982.1:p.Glu561del

Select item 14878415742.

rs1487841574 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:122742019 (GRCh38)
4:123663174 (GRCh37)
Canonical SPDI:: NC_000004.12:122742018:G:A
Gene:: BBS12 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.122742019G>A, NC_000004.11:g.123663174G>A, NG_021203.1:g.14318G>A, NM_152618.3:c.127G>A, NM_152618.2:c.127G>A, NM_001178007.2:c.127G>A, NM_001178007.1:c.127G>A, XM_011531680.3:c.127G>A, XM_011531680.2:c.127G>A, XM_011531680.1:c.127G>A, NP_689831.2:p.Glu43Lys, NP_001171478.1:p.Glu43Lys, XP_011529982.1:p.Glu43Lys

Select item 14873838863.

rs1487383886 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 4:122743240 (GRCh38)
4:123664395 (GRCh37)
Canonical SPDI:: NC_000004.12:122743239:G:A,NC_000004.12:122743239:G:C
Gene:: BBS12 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000036/5 (GnomAD)
HGVS:: NC_000004.12:g.122743240G>A, NC_000004.12:g.122743240G>C, NC_000004.11:g.123664395G>A, NC_000004.11:g.123664395G>C, NG_021203.1:g.15539G>A, NG_021203.1:g.15539G>C, NM_152618.3:c.1348G>A, NM_152618.3:c.1348G>C, NM_152618.2:c.1348G>A, NM_152618.2:c.1348G>C, NM_001178007.2:c.1348G>A, NM_001178007.2:c.1348G>C, NM_001178007.1:c.1348G>A, NM_001178007.1:c.1348G>C, XM_011531680.3:c.1348G>A, XM_011531680.3:c.1348G>C, XM_011531680.2:c.1348G>A, XM_011531680.2:c.1348G>C, XM_011531680.1:c.1348G>A, XM_011531680.1:c.1348G>C, NP_689831.2:p.Gly450Arg, NP_689831.2:p.Gly450Arg, NP_001171478.1:p.Gly450Arg, NP_001171478.1:p.Gly450Arg, XP_011529982.1:p.Gly450Arg, XP_011529982.1:p.Gly450Arg

Select item 14871245054.

rs1487124505 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:122742632 (GRCh38)
4:123663787 (GRCh37)
Canonical SPDI:: NC_000004.12:122742631:G:A
Gene:: BBS12 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
HGVS:: NC_000004.12:g.122742632G>A, NC_000004.11:g.123663787G>A, NG_021203.1:g.14931G>A, NM_152618.3:c.740G>A, NM_152618.2:c.740G>A, NM_001178007.2:c.740G>A, NM_001178007.1:c.740G>A, XM_011531680.3:c.740G>A, XM_011531680.2:c.740G>A, XM_011531680.1:c.740G>A, NP_689831.2:p.Ser247Asn, NP_001171478.1:p.Ser247Asn, XP_011529982.1:p.Ser247Asn

Select item 14819953755.

rs1481995375 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 4:122743008 (GRCh38)
4:123664163 (GRCh37)
Canonical SPDI:: NC_000004.12:122743007:T:G
Gene:: BBS12 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
T=0.5/1 (SGDP_PRJ)
HGVS:: NC_000004.12:g.122743008T>G, NC_000004.11:g.123664163T>G, NG_021203.1:g.15307T>G, NM_152618.3:c.1116T>G, NM_152618.2:c.1116T>G, NM_001178007.2:c.1116T>G, NM_001178007.1:c.1116T>G, XM_011531680.3:c.1116T>G, XM_011531680.2:c.1116T>G, XM_011531680.1:c.1116T>G, NP_689831.2:p.Phe372Leu, NP_001171478.1:p.Phe372Leu, XP_011529982.1:p.Phe372Leu

Select item 14808682386.

rs1480868238 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:122743420 (GRCh38)
4:123664575 (GRCh37)
Canonical SPDI:: NC_000004.12:122743419:G:A
Gene:: BBS12 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000004.12:g.122743420G>A, NC_000004.11:g.123664575G>A, NG_021203.1:g.15719G>A, NM_152618.3:c.1528G>A, NM_152618.2:c.1528G>A, NM_001178007.2:c.1528G>A, NM_001178007.1:c.1528G>A, XM_011531680.3:c.1528G>A, XM_011531680.2:c.1528G>A, XM_011531680.1:c.1528G>A, NP_689831.2:p.Ala510Thr, NP_001171478.1:p.Ala510Thr, XP_011529982.1:p.Ala510Thr

Select item 14804762547.

rs1480476254 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:122743890 (GRCh38)
4:123665045 (GRCh37)
Canonical SPDI:: NC_000004.12:122743889:T:C
Gene:: BBS12 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000028/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.122743890T>C, NC_000004.11:g.123665045T>C, NG_021203.1:g.16189T>C, NM_152618.3:c.1998T>C, NM_152618.2:c.1998T>C, NM_001178007.2:c.1998T>C, NM_001178007.1:c.1998T>C, XM_011531680.3:c.1998T>C, XM_011531680.2:c.1998T>C, XM_011531680.1:c.1998T>C

Select item 14796399908.

rs1479639990 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:122743454 (GRCh38)
4:123664609 (GRCh37)
Canonical SPDI:: NC_000004.12:122743453:C:T
Gene:: BBS12 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.122743454C>T, NC_000004.11:g.123664609C>T, NG_021203.1:g.15753C>T, NM_152618.3:c.1562C>T, NM_152618.2:c.1562C>T, NM_001178007.2:c.1562C>T, NM_001178007.1:c.1562C>T, XM_011531680.3:c.1562C>T, XM_011531680.2:c.1562C>T, XM_011531680.1:c.1562C>T, NP_689831.2:p.Thr521Ile, NP_001171478.1:p.Thr521Ile, XP_011529982.1:p.Thr521Ile

Select item 14788560909.

rs1478856090 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 4:122743165 (GRCh38)
4:123664320 (GRCh37)
Canonical SPDI:: NC_000004.12:122743164:A:C
Gene:: BBS12 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.122743165A>C, NC_000004.11:g.123664320A>C, NG_021203.1:g.15464A>C, NM_152618.3:c.1273A>C, NM_152618.2:c.1273A>C, NM_001178007.2:c.1273A>C, NM_001178007.1:c.1273A>C, XM_011531680.3:c.1273A>C, XM_011531680.2:c.1273A>C, XM_011531680.1:c.1273A>C, NP_689831.2:p.Lys425Gln, NP_001171478.1:p.Lys425Gln, XP_011529982.1:p.Lys425Gln

Select item 147794160210.

rs1477941602 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:122742852 (GRCh38)
4:123664007 (GRCh37)
Canonical SPDI:: NC_000004.12:122742851:A:G
Gene:: BBS12 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000011/3 (TOPMED)
HGVS:: NC_000004.12:g.122742852A>G, NC_000004.11:g.123664007A>G, NG_021203.1:g.15151A>G, NM_152618.3:c.960A>G, NM_152618.2:c.960A>G, NM_001178007.2:c.960A>G, NM_001178007.1:c.960A>G, XM_011531680.3:c.960A>G, XM_011531680.2:c.960A>G, XM_011531680.1:c.960A>G

Select item 147788050911.

rs1477880509 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 4:122743488 (GRCh38)
4:123664643 (GRCh37)
Canonical SPDI:: NC_000004.12:122743487:G:A,NC_000004.12:122743487:G:C
Gene:: BBS12 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Clinical significance:: uncertain-significance,likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000015/4 (TOPMED)
HGVS:: NC_000004.12:g.122743488G>A, NC_000004.12:g.122743488G>C, NC_000004.11:g.123664643G>A, NC_000004.11:g.123664643G>C, NG_021203.1:g.15787G>A, NG_021203.1:g.15787G>C, NM_152618.3:c.1596G>A, NM_152618.3:c.1596G>C, NM_152618.2:c.1596G>A, NM_152618.2:c.1596G>C, NM_001178007.2:c.1596G>A, NM_001178007.2:c.1596G>C, NM_001178007.1:c.1596G>A, NM_001178007.1:c.1596G>C, XM_011531680.3:c.1596G>A, XM_011531680.3:c.1596G>C, XM_011531680.2:c.1596G>A, XM_011531680.2:c.1596G>C, XM_011531680.1:c.1596G>A, XM_011531680.1:c.1596G>C, NP_689831.2:p.Glu532Asp, NP_001171478.1:p.Glu532Asp, XP_011529982.1:p.Glu532Asp

Select item 147755691112.

rs1477556911 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 4:122743601 (GRCh38)
4:123664757 (GRCh37)
Canonical SPDI:: NC_000004.12:122743601:T:TT
Gene:: BBS12 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,stop_gained
HGVS:: NC_000004.12:g.122743602dup, NC_000004.11:g.123664757dup, NG_021203.1:g.15901dup, NM_152618.3:c.1710dup, NM_152618.2:c.1710dup, NM_001178007.2:c.1710dup, NM_001178007.1:c.1710dup, XM_011531680.3:c.1710dup, XM_011531680.2:c.1710dup, XM_011531680.1:c.1710dup, NP_689831.2:p.Asn571Ter, NP_001171478.1:p.Asn571Ter, XP_011529982.1:p.Asn571Ter

Select item 147725181813.

rs1477251818 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:122742285 (GRCh38)
4:123663440 (GRCh37)
Canonical SPDI:: NC_000004.12:122742284:T:C
Gene:: BBS12 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.122742285T>C, NC_000004.11:g.123663440T>C, NG_021203.1:g.14584T>C, NM_152618.3:c.393T>C, NM_152618.2:c.393T>C, NM_001178007.2:c.393T>C, NM_001178007.1:c.393T>C, XM_011531680.3:c.393T>C, XM_011531680.2:c.393T>C, XM_011531680.1:c.393T>C

Select item 147490036114.

rs1474900361 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:122742956 (GRCh38)
4:123664111 (GRCh37)
Canonical SPDI:: NC_000004.12:122742955:G:A
Gene:: BBS12 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.122742956G>A, NC_000004.11:g.123664111G>A, NG_021203.1:g.15255G>A, NM_152618.3:c.1064G>A, NM_152618.2:c.1064G>A, NM_001178007.2:c.1064G>A, NM_001178007.1:c.1064G>A, XM_011531680.3:c.1064G>A, XM_011531680.2:c.1064G>A, XM_011531680.1:c.1064G>A, NP_689831.2:p.Arg355Gln, NP_001171478.1:p.Arg355Gln, XP_011529982.1:p.Arg355Gln

Select item 147273777015.

rs1472737770 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:122742202 (GRCh38)
4:123663357 (GRCh37)
Canonical SPDI:: NC_000004.12:122742201:C:T
Gene:: BBS12 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.122742202C>T, NC_000004.11:g.123663357C>T, NG_021203.1:g.14501C>T, NM_152618.3:c.310C>T, NM_152618.2:c.310C>T, NM_001178007.2:c.310C>T, NM_001178007.1:c.310C>T, XM_011531680.3:c.310C>T, XM_011531680.2:c.310C>T, XM_011531680.1:c.310C>T, NP_689831.2:p.His104Tyr, NP_001171478.1:p.His104Tyr, XP_011529982.1:p.His104Tyr

Select item 147242472416.

rs1472424724 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 4:122742518 (GRCh38)
4:123663673 (GRCh37)
Canonical SPDI:: NC_000004.12:122742517:A:G,NC_000004.12:122742517:A:T
Gene:: BBS12 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.122742518A>G, NC_000004.12:g.122742518A>T, NC_000004.11:g.123663673A>G, NC_000004.11:g.123663673A>T, NG_021203.1:g.14817A>G, NG_021203.1:g.14817A>T, NM_152618.3:c.626A>G, NM_152618.3:c.626A>T, NM_152618.2:c.626A>G, NM_152618.2:c.626A>T, NM_001178007.2:c.626A>G, NM_001178007.2:c.626A>T, NM_001178007.1:c.626A>G, NM_001178007.1:c.626A>T, XM_011531680.3:c.626A>G, XM_011531680.3:c.626A>T, XM_011531680.2:c.626A>G, XM_011531680.2:c.626A>T, XM_011531680.1:c.626A>G, XM_011531680.1:c.626A>T, NP_689831.2:p.Asp209Gly, NP_689831.2:p.Asp209Val, NP_001171478.1:p.Asp209Gly, NP_001171478.1:p.Asp209Val, XP_011529982.1:p.Asp209Gly, XP_011529982.1:p.Asp209Val

Select item 147108626817.

rs1471086268 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:122743948 (GRCh38)
4:123665103 (GRCh37)
Canonical SPDI:: NC_000004.12:122743947:A:G
Gene:: BBS12 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000224/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000004.12:g.122743948A>G, NC_000004.11:g.123665103A>G, NG_021203.1:g.16247A>G, NM_152618.3:c.2056A>G, NM_152618.2:c.2056A>G, NM_001178007.2:c.2056A>G, NM_001178007.1:c.2056A>G, XM_011531680.3:c.2056A>G, XM_011531680.2:c.2056A>G, XM_011531680.1:c.2056A>G, NP_689831.2:p.Thr686Ala, NP_001171478.1:p.Thr686Ala, XP_011529982.1:p.Thr686Ala

Select item 146741521718.

rs1467415217 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 4:122742292 (GRCh38)
4:123663447 (GRCh37)
Canonical SPDI:: NC_000004.12:122742291:G:A,NC_000004.12:122742291:G:T
Gene:: BBS12 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.122742292G>A, NC_000004.12:g.122742292G>T, NC_000004.11:g.123663447G>A, NC_000004.11:g.123663447G>T, NG_021203.1:g.14591G>A, NG_021203.1:g.14591G>T, NM_152618.3:c.400G>A, NM_152618.3:c.400G>T, NM_152618.2:c.400G>A, NM_152618.2:c.400G>T, NM_001178007.2:c.400G>A, NM_001178007.2:c.400G>T, NM_001178007.1:c.400G>A, NM_001178007.1:c.400G>T, XM_011531680.3:c.400G>A, XM_011531680.3:c.400G>T, XM_011531680.2:c.400G>A, XM_011531680.2:c.400G>T, XM_011531680.1:c.400G>A, XM_011531680.1:c.400G>T, NP_689831.2:p.Val134Ile, NP_689831.2:p.Val134Phe, NP_001171478.1:p.Val134Ile, NP_001171478.1:p.Val134Phe, XP_011529982.1:p.Val134Ile, XP_011529982.1:p.Val134Phe

Select item 146481405919.

rs1464814059 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 4:122741911 (GRCh38)
4:123663066 (GRCh37)
Canonical SPDI:: NC_000004.12:122741910:G:A,NC_000004.12:122741910:G:C
Gene:: BBS12 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
HGVS:: NC_000004.12:g.122741911G>A, NC_000004.12:g.122741911G>C, NC_000004.11:g.123663066G>A, NC_000004.11:g.123663066G>C, NG_021203.1:g.14210G>A, NG_021203.1:g.14210G>C, NM_152618.3:c.19G>A, NM_152618.3:c.19G>C, NM_152618.2:c.19G>A, NM_152618.2:c.19G>C, NM_001178007.2:c.19G>A, NM_001178007.2:c.19G>C, NM_001178007.1:c.19G>A, NM_001178007.1:c.19G>C, XM_011531680.3:c.19G>A, XM_011531680.3:c.19G>C, XM_011531680.2:c.19G>A, XM_011531680.2:c.19G>C, XM_011531680.1:c.19G>A, XM_011531680.1:c.19G>C, NP_689831.2:p.Val7Ile, NP_689831.2:p.Val7Leu, NP_001171478.1:p.Val7Ile, NP_001171478.1:p.Val7Leu, XP_011529982.1:p.Val7Ile, XP_011529982.1:p.Val7Leu

Select item 146304386920.

rs1463043869 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:122743776 (GRCh38)
4:123664931 (GRCh37)
Canonical SPDI:: NC_000004.12:122743775:C:T
Gene:: BBS12 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.122743776C>T, NC_000004.11:g.123664931C>T, NG_021203.1:g.16075C>T, NM_152618.3:c.1884C>T, NM_152618.2:c.1884C>T, NM_001178007.2:c.1884C>T, NM_001178007.1:c.1884C>T, XM_011531680.3:c.1884C>T, XM_011531680.2:c.1884C>T, XM_011531680.1:c.1884C>T

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