SNP Links for Gene (Select 53637) - SNP

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Select item 14915417401.

rs1491541740 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 19:10516607 (GRCh38)
19:10627283 (GRCh37)
Canonical SPDI:: NC_000019.10:10516606:CA:
Gene:: S1PR5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00531/63 (ALFA)
-=0.0009/25 (TOMMO)
HGVS:: NC_000019.10:g.10516607_10516608del, NC_000019.9:g.10627283_10627284del

Select item 14912884412.

rs1491288441 has merged into rs1353152843 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCTCTGCGTGTCTCTTTG>-,CCTCTGCGTGTCTCTTTGCCTCTGCGTGTCTCTTTG [Show Flanks]
Chromosome:: 19:10518497 (GRCh38)
19:10629173 (GRCh37)
Canonical SPDI:: NC_000019.10:10518479:CTCTGCGTGTCTCTTTGCCTCTGCGTGTCTCTTTG:CTCTGCGTGTCTCTTTG,NC_000019.10:10518479:CTCTGCGTGTCTCTTTGCCTCTGCGTGTCTCTTTG:CTCTGCGTGTCTCTTTGCCTCTGCGTGTCTCTTTGCCTCTGCGTGTCTCTTTG
Gene:: S1PR5 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCTGCGTGTCTCTTTGCCTCTGCGTGTCTCTTTGCCTCTGCGTGTCTCTTTG=0./0 (ALFA)
HGVS:: NC_000019.10:g.10518497_10518514del, NC_000019.10:g.10518497_10518514dup, NC_000019.9:g.10629173_10629190del, NC_000019.9:g.10629173_10629190dup

Select item 14912480683.

rs1491248068 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 19:10518482 (GRCh38)
19:10629158 (GRCh37)
Canonical SPDI:: NC_000019.10:10518478:TCTCT:TCT
Gene:: S1PR5 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: -=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.10518480CT[1], NC_000019.9:g.10629156CT[1]

Select item 14911687294.

rs1491168729 has merged into rs113615794 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 19:10516617 (GRCh38)
19:10627293 (GRCh37)
Canonical SPDI:: NC_000019.10:10516607:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000019.10:10516607:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:10516607:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:10516607:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:10516607:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:10516607:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:10516607:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:10516607:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:10516607:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:10516607:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:10516607:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:10516607:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:10516607:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:10516607:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:10516607:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:10516607:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:10516607:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: S1PR5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000019.10:g.10516617_10516629del, NC_000019.10:g.10516619_10516629del, NC_000019.10:g.10516620_10516629del, NC_000019.10:g.10516621_10516629del, NC_000019.10:g.10516622_10516629del, NC_000019.10:g.10516623_10516629del, NC_000019.10:g.10516624_10516629del, NC_000019.10:g.10516625_10516629del, NC_000019.10:g.10516626_10516629del, NC_000019.10:g.10516627_10516629del, NC_000019.10:g.10516628_10516629del, NC_000019.10:g.10516629del, NC_000019.10:g.10516629dup, NC_000019.10:g.10516628_10516629dup, NC_000019.10:g.10516627_10516629dup, NC_000019.10:g.10516626_10516629dup, NC_000019.10:g.10516625_10516629dup, NC_000019.9:g.10627293_10627305del, NC_000019.9:g.10627295_10627305del, NC_000019.9:g.10627296_10627305del, NC_000019.9:g.10627297_10627305del, NC_000019.9:g.10627298_10627305del, NC_000019.9:g.10627299_10627305del, NC_000019.9:g.10627300_10627305del, NC_000019.9:g.10627301_10627305del, NC_000019.9:g.10627302_10627305del, NC_000019.9:g.10627303_10627305del, NC_000019.9:g.10627304_10627305del, NC_000019.9:g.10627305del, NC_000019.9:g.10627305dup, NC_000019.9:g.10627304_10627305dup, NC_000019.9:g.10627303_10627305dup, NC_000019.9:g.10627302_10627305dup, NC_000019.9:g.10627301_10627305dup

Select item 14911366045.

rs1491136604 has merged into rs555777490 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTTT [Show Flanks]
Chromosome:: 19:10519719 (GRCh38)
19:10630395 (GRCh37)
Canonical SPDI:: NC_000019.10:10519705:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:10519705:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:10519705:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:10519705:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:10519705:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
Gene:: S1PR5 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTT=0./0 (ALFA)
TTTT=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.10519719_10519720del, NC_000019.10:g.10519720del, NC_000019.10:g.10519720dup, NC_000019.10:g.10519719_10519720dup, NC_000019.10:g.10519717_10519720dup, NC_000019.9:g.10630395_10630396del, NC_000019.9:g.10630396del, NC_000019.9:g.10630396dup, NC_000019.9:g.10630395_10630396dup, NC_000019.9:g.10630393_10630396dup

Select item 14910729296.

rs1491072929 has merged into rs376864540 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 19:10512427 (GRCh38)
19:10623103 (GRCh37)
Canonical SPDI:: NC_000019.10:10512416:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000019.10:10512416:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:10512416:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:10512416:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:10512416:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:10512416:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:10512416:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:10512416:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:10512416:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:10512416:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:10512416:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10512416:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10512416:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10512416:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10512416:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10512416:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10512416:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10512416:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10512416:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10512416:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10512416:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10512416:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: S1PR5 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000019.10:g.10512427_10512438del, NC_000019.10:g.10512428_10512438del, NC_000019.10:g.10512429_10512438del, NC_000019.10:g.10512430_10512438del, NC_000019.10:g.10512431_10512438del, NC_000019.10:g.10512433_10512438del, NC_000019.10:g.10512434_10512438del, NC_000019.10:g.10512435_10512438del, NC_000019.10:g.10512436_10512438del, NC_000019.10:g.10512437_10512438del, NC_000019.10:g.10512438del, NC_000019.10:g.10512438dup, NC_000019.10:g.10512437_10512438dup, NC_000019.10:g.10512436_10512438dup, NC_000019.10:g.10512435_10512438dup, NC_000019.10:g.10512434_10512438dup, NC_000019.10:g.10512433_10512438dup, NC_000019.10:g.10512432_10512438dup, NC_000019.10:g.10512431_10512438dup, NC_000019.10:g.10512429_10512438dup, NC_000019.10:g.10512423_10512438dup, NC_000019.10:g.10512422_10512438dup, NC_000019.9:g.10623103_10623114del, NC_000019.9:g.10623104_10623114del, NC_000019.9:g.10623105_10623114del, NC_000019.9:g.10623106_10623114del, NC_000019.9:g.10623107_10623114del, NC_000019.9:g.10623109_10623114del, NC_000019.9:g.10623110_10623114del, NC_000019.9:g.10623111_10623114del, NC_000019.9:g.10623112_10623114del, NC_000019.9:g.10623113_10623114del, NC_000019.9:g.10623114del, NC_000019.9:g.10623114dup, NC_000019.9:g.10623113_10623114dup, NC_000019.9:g.10623112_10623114dup, NC_000019.9:g.10623111_10623114dup, NC_000019.9:g.10623110_10623114dup, NC_000019.9:g.10623109_10623114dup, NC_000019.9:g.10623108_10623114dup, NC_000019.9:g.10623107_10623114dup, NC_000019.9:g.10623105_10623114dup, NC_000019.9:g.10623099_10623114dup, NC_000019.9:g.10623098_10623114dup

Select item 14907221307.

rs1490722130 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:10514259 (GRCh38)
19:10624935 (GRCh37)
Canonical SPDI:: NC_000019.10:10514258:G:A
Gene:: S1PR5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.10514259G>A, NC_000019.9:g.10624935G>A, NM_030760.5:c.753C>T, NM_030760.4:c.753C>T, NM_001166215.2:c.753C>T, NM_001166215.1:c.753C>T

Select item 14907014458.

rs1490701445 [Homo sapiens]

Variant type:: INS
Alleles:: ->ATA [Show Flanks]
Chromosome:: 19:10519517 (GRCh38)
19:10630194 (GRCh37)
Canonical SPDI:: NC_000019.10:10519517::ATA
Gene:: S1PR5 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
HGVS:: NC_000019.10:g.10519517_10519518insATA, NC_000019.9:g.10630193_10630194insATA

Select item 14902440069.

rs1490244006 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:10513987 (GRCh38)
19:10624663 (GRCh37)
Canonical SPDI:: NC_000019.10:10513986:G:T
Gene:: S1PR5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by cluster
HGVS:: NC_000019.10:g.10513987G>T, NC_000019.9:g.10624663G>T, NM_030760.5:c.1025C>A, NM_030760.4:c.1025C>A, NM_001166215.2:c.1025C>A, NM_001166215.1:c.1025C>A, NP_110387.1:p.Ala342Asp, NP_001159687.1:p.Ala342Asp

Select item 149011673410.

rs1490116734 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:10516247 (GRCh38)
19:10626923 (GRCh37)
Canonical SPDI:: NC_000019.10:10516246:T:C
Gene:: S1PR5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.10516247T>C, NC_000019.9:g.10626923T>C

Select item 148995171211.

rs1489951712 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 19:10515788 (GRCh38)
19:10626464 (GRCh37)
Canonical SPDI:: NC_000019.10:10515787:G:C,NC_000019.10:10515787:G:T
Gene:: S1PR5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000019.10:g.10515788G>C, NC_000019.10:g.10515788G>T, NC_000019.9:g.10626464G>C, NC_000019.9:g.10626464G>T

Select item 148950465112.

rs1489504651 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:10517115 (GRCh38)
19:10627791 (GRCh37)
Canonical SPDI:: NC_000019.10:10517114:C:T
Gene:: S1PR5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000019.10:g.10517115C>T, NC_000019.9:g.10627791C>T

Select item 148941216413.

rs1489412164 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:10517528 (GRCh38)
19:10628204 (GRCh37)
Canonical SPDI:: NC_000019.10:10517527:A:G
Gene:: S1PR5 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.10517528A>G, NC_000019.9:g.10628204A>G

Select item 148937936114.

rs1489379361 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:10515510 (GRCh38)
19:10626186 (GRCh37)
Canonical SPDI:: NC_000019.10:10515509:G:A
Gene:: S1PR5 (Varview)
Functional Consequence:: intron_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.10515510G>A, NC_000019.9:g.10626186G>A

Select item 148912015415.

rs1489120154 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:10513972 (GRCh38)
19:10624648 (GRCh37)
Canonical SPDI:: NC_000019.10:10513971:C:T
Gene:: S1PR5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000005/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.10513972C>T, NC_000019.9:g.10624648C>T, NM_030760.5:c.1040G>A, NM_030760.4:c.1040G>A, NM_001166215.2:c.1040G>A, NM_001166215.1:c.1040G>A, NP_110387.1:p.Gly347Asp, NP_001159687.1:p.Gly347Asp

Select item 148815176516.

rs1488151765 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:10515440 (GRCh38)
19:10626116 (GRCh37)
Canonical SPDI:: NC_000019.10:10515439:C:T
Gene:: S1PR5 (Varview)
Functional Consequence:: intron_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.10515440C>T, NC_000019.9:g.10626116C>T

Select item 148695831017.

rs1486958310 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:10512636 (GRCh38)
19:10623312 (GRCh37)
Canonical SPDI:: NC_000019.10:10512635:C:T
Gene:: S1PR5 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_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_000019.10:g.10512636C>T, NC_000019.9:g.10623312C>T

Select item 148622590418.

rs1486225904 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 19:10512923 (GRCh38)
19:10623600 (GRCh37)
Canonical SPDI:: NC_000019.10:10512923::G
Gene:: S1PR5 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by cluster
MAF:: G=0.000185/20 (GnomAD)
G=0.000547/1 (Korea1K)
HGVS:: NC_000019.10:g.10512923_10512924insG, NC_000019.9:g.10623599_10623600insG, NM_030760.5:c.*891_*892insC, NM_030760.4:c.*891_*892insC, NM_001166215.2:c.*891_*892insC, NM_001166215.1:c.*891_*892insC

Select item 148561744619.

rs1485617446 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:10519523 (GRCh38)
19:10630199 (GRCh37)
Canonical SPDI:: NC_000019.10:10519522:C:T
Gene:: S1PR5 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_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.10519523C>T, NC_000019.9:g.10630199C>T

Select item 148504013920.

rs1485040139 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:10514057 (GRCh38)
19:10624733 (GRCh37)
Canonical SPDI:: NC_000019.10:10514056:G:A
Gene:: S1PR5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.10514057G>A, NC_000019.9:g.10624733G>A, NM_030760.5:c.955C>T, NM_030760.4:c.955C>T, NM_001166215.2:c.955C>T, NM_001166215.1:c.955C>T, NP_110387.1:p.Arg319Cys, NP_001159687.1:p.Arg319Cys

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