SNP Links for Protein (Select 1034608939) - SNP

Links from Protein

Items: 1 to 20 of 113

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Select item 14870911791.

rs1487091179 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:49115249 (GRCh38)
19:49618506 (GRCh37)
Canonical SPDI:: NC_000019.10:49115248:T:C
Gene:: LIN7B (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.49115249T>C, NC_000019.9:g.49618506T>C, XM_017027131.3:c.193T>C, XM_017027131.2:c.193T>C, XM_017027131.1:c.193T>C, XP_016882620.1:p.Ser65Pro

Select item 14705629272.

rs1470562927 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 19:49117858 (GRCh38)
19:49621116 (GRCh37)
Canonical SPDI:: NC_000019.10:49117858:TT:TTT
Gene:: PPFIA3 (Varview), LIN7B (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,coding_sequence_variant,frameshift_variant,stop_gained,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.49117860dup, NC_000019.9:g.49621117dup, XR_243950.4:n.479dup, XR_243950.3:n.508dup, XR_243950.2:n.480dup, XR_243950.1:n.479dup, XM_006723323.4:c.372dup, XM_006723323.3:c.372dup, XM_006723323.2:c.372dup, XM_006723323.1:c.372dup, XM_017027131.3:c.281dup, XM_017027131.2:c.281dup, XM_017027131.1:c.281dup, NM_022165.3:c.444dup, NM_022165.2:c.444dup, NM_001308419.2:c.234dup, NM_001308419.1:c.234dup, XP_006723386.1:p.Glu125Ter, XP_016882620.1:p.Leu94fs, NP_071448.1:p.Glu149Ter, NP_001295348.1:p.Glu79Ter

Select item 14644923583.

rs1464492358 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:49114862 (GRCh38)
19:49618119 (GRCh37)
Canonical SPDI:: NC_000019.10:49114861:G:A
Gene:: LIN7B (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000177/3 (TOMMO)
HGVS:: NC_000019.10:g.49114862G>A, NC_000019.9:g.49618119G>A, XR_243950.4:n.86G>A, XR_243950.3:n.115G>A, XR_243950.2:n.87G>A, XR_243950.1:n.86G>A, XM_006723323.4:c.51G>A, XM_006723323.3:c.51G>A, XM_006723323.2:c.51G>A, XM_006723323.1:c.51G>A, XM_017027131.3:c.51G>A, XM_017027131.2:c.51G>A, XM_017027131.1:c.51G>A, NM_022165.3:c.51G>A, NM_022165.2:c.51G>A, NM_001308419.2:c.51G>A, NM_001308419.1:c.51G>A

Select item 14515995954.

rs1451599595 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:49115253 (GRCh38)
19:49618510 (GRCh37)
Canonical SPDI:: NC_000019.10:49115252:C:T
Gene:: LIN7B (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000019.10:g.49115253C>T, NC_000019.9:g.49618510C>T, XM_017027131.3:c.197C>T, XM_017027131.2:c.197C>T, XM_017027131.1:c.197C>T, XP_016882620.1:p.Ser66Leu

Select item 14475806865.

rs1447580686 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:49114874 (GRCh38)
19:49618131 (GRCh37)
Canonical SPDI:: NC_000019.10:49114873:C:G,NC_000019.10:49114873:C:T
Gene:: LIN7B (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.49114874C>G, NC_000019.10:g.49114874C>T, NC_000019.9:g.49618131C>G, NC_000019.9:g.49618131C>T, XR_243950.4:n.98C>G, XR_243950.4:n.98C>T, XR_243950.3:n.127C>G, XR_243950.3:n.127C>T, XR_243950.2:n.99C>G, XR_243950.2:n.99C>T, XR_243950.1:n.98C>G, XR_243950.1:n.98C>T, XM_006723323.4:c.63C>G, XM_006723323.4:c.63C>T, XM_006723323.3:c.63C>G, XM_006723323.3:c.63C>T, XM_006723323.2:c.63C>G, XM_006723323.2:c.63C>T, XM_006723323.1:c.63C>G, XM_006723323.1:c.63C>T, XM_017027131.3:c.63C>G, XM_017027131.3:c.63C>T, XM_017027131.2:c.63C>G, XM_017027131.2:c.63C>T, XM_017027131.1:c.63C>G, XM_017027131.1:c.63C>T, NM_022165.3:c.63C>G, NM_022165.3:c.63C>T, NM_022165.2:c.63C>G, NM_022165.2:c.63C>T, NM_001308419.2:c.63C>G, NM_001308419.2:c.63C>T, NM_001308419.1:c.63C>G, NM_001308419.1:c.63C>T

Select item 14469477256.

rs1446947725 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:49115308 (GRCh38)
19:49618565 (GRCh37)
Canonical SPDI:: NC_000019.10:49115307:A:G
Gene:: LIN7B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant,synonymous_variant
HGVS:: NC_000019.10:g.49115308A>G, NC_000019.9:g.49618565A>G, XR_243950.4:n.240A>G, XR_243950.3:n.269A>G, XR_243950.2:n.241A>G, XR_243950.1:n.240A>G, XM_017027131.3:c.252A>G, XM_017027131.2:c.252A>G, XM_017027131.1:c.252A>G, NM_022165.3:c.205A>G, NM_022165.2:c.205A>G, NM_001308419.2:c.205A>G, NM_001308419.1:c.205A>G, NP_071448.1:p.Ile69Val, NP_001295348.1:p.Ile69Val

Select item 14410194767.

rs1441019476 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:49114430 (GRCh38)
19:49617687 (GRCh37)
Canonical SPDI:: NC_000019.10:49114429:G:A,NC_000019.10:49114429:G:T
Gene:: LIN7B (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
HGVS:: NC_000019.10:g.49114430G>A, NC_000019.10:g.49114430G>T, NC_000019.9:g.49617687G>A, NC_000019.9:g.49617687G>T, XR_243950.4:n.61G>A, XR_243950.4:n.61G>T, XR_243950.3:n.90G>A, XR_243950.3:n.90G>T, XR_243950.2:n.62G>A, XR_243950.2:n.62G>T, XR_243950.1:n.61G>A, XR_243950.1:n.61G>T, XM_006723323.4:c.26G>A, XM_006723323.4:c.26G>T, XM_006723323.3:c.26G>A, XM_006723323.3:c.26G>T, XM_006723323.2:c.26G>A, XM_006723323.2:c.26G>T, XM_006723323.1:c.26G>A, XM_006723323.1:c.26G>T, XM_017027131.3:c.26G>A, XM_017027131.3:c.26G>T, XM_017027131.2:c.26G>A, XM_017027131.2:c.26G>T, XM_017027131.1:c.26G>A, XM_017027131.1:c.26G>T, NM_022165.3:c.26G>A, NM_022165.3:c.26G>T, NM_022165.2:c.26G>A, NM_022165.2:c.26G>T, NM_001308419.2:c.26G>A, NM_001308419.2:c.26G>T, NM_001308419.1:c.26G>A, NM_001308419.1:c.26G>T, XP_006723386.1:p.Gly9Glu, XP_006723386.1:p.Gly9Val, XP_016882620.1:p.Gly9Glu, XP_016882620.1:p.Gly9Val, NP_071448.1:p.Gly9Glu, NP_071448.1:p.Gly9Val, NP_001295348.1:p.Gly9Glu, NP_001295348.1:p.Gly9Val

Select item 14403482748.

rs1440348274 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:49115265 (GRCh38)
19:49618522 (GRCh37)
Canonical SPDI:: NC_000019.10:49115264:T:C
Gene:: LIN7B (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.49115265T>C, NC_000019.9:g.49618522T>C, XR_243950.4:n.197T>C, XR_243950.3:n.226T>C, XR_243950.2:n.198T>C, XR_243950.1:n.197T>C, XM_017027131.3:c.209T>C, XM_017027131.2:c.209T>C, XM_017027131.1:c.209T>C, NM_022165.3:c.162T>C, NM_022165.2:c.162T>C, NM_001308419.2:c.162T>C, NM_001308419.1:c.162T>C, XP_016882620.1:p.Met70Thr

Select item 14233504239.

rs1423350423 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:49114925 (GRCh38)
19:49618182 (GRCh37)
Canonical SPDI:: NC_000019.10:49114924:C:G
Gene:: LIN7B (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.49114925C>G, NC_000019.9:g.49618182C>G, XR_243950.4:n.149C>G, XR_243950.3:n.178C>G, XR_243950.2:n.150C>G, XR_243950.1:n.149C>G, XM_006723323.4:c.114C>G, XM_006723323.3:c.114C>G, XM_006723323.2:c.114C>G, XM_006723323.1:c.114C>G, XM_017027131.3:c.114C>G, XM_017027131.2:c.114C>G, XM_017027131.1:c.114C>G, NM_022165.3:c.114C>G, NM_022165.2:c.114C>G, NM_001308419.2:c.114C>G, NM_001308419.1:c.114C>G

Select item 141265835810.

rs1412658358 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:49115251 (GRCh38)
19:49618508 (GRCh37)
Canonical SPDI:: NC_000019.10:49115250:C:T
Gene:: LIN7B (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.49115251C>T, NC_000019.9:g.49618508C>T, XM_017027131.3:c.195C>T, XM_017027131.2:c.195C>T, XM_017027131.1:c.195C>T