SNP Links for Gene (Select 126638) - SNP

Links from Gene

Items: 1 to 20 of 2123

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Select item 14907542401.

rs1490754240 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:152157723 (GRCh38)
1:152130199 (GRCh37)
Canonical SPDI:: NC_000001.11:152157722:T:C
Gene:: RPTN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.152157723T>C, NC_000001.10:g.152130199T>C

Select item 14900923802.

rs1490092380 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:152153390 (GRCh38)
1:152125866 (GRCh37)
Canonical SPDI:: NC_000001.11:152153389:G:C
Gene:: RPTN (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.152153390G>C, NC_000001.10:g.152125866G>C

Select item 14897879753.

rs1489787975 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:152153962 (GRCh38)
1:152126438 (GRCh37)
Canonical SPDI:: NC_000001.11:152153961:T:C
Gene:: RPTN (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.152153962T>C, NC_000001.10:g.152126438T>C, NM_001122965.1:c.*782A>G, NM_152364.1:c.*509A>G

Select item 14894833164.

rs1489483316 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:152160378 (GRCh38)
1:152132854 (GRCh37)
Canonical SPDI:: NC_000001.11:152160377:G:A,NC_000001.11:152160377:G:T
Gene:: RPTN (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.152160378G>A, NC_000001.11:g.152160378G>T, NC_000001.10:g.152132854G>A, NC_000001.10:g.152132854G>T

Select item 14894698435.

rs1489469843 has merged into rs991934471 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT [Show Flanks]
Chromosome:: 1:152153464 (GRCh38)
1:152125940 (GRCh37)
Canonical SPDI:: NC_000001.11:152153463:TTTTTTTT:TTTTTTT,NC_000001.11:152153463:TTTTTTTT:TTTTTTTTT
Gene:: RPTN (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
-=0.00004/1 (TOMMO)
HGVS:: NC_000001.11:g.152153471del, NC_000001.11:g.152153471dup, NC_000001.10:g.152125947del, NC_000001.10:g.152125947dup

Select item 14893085756.

rs1489308575 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:152156050 (GRCh38)
1:152128526 (GRCh37)
Canonical SPDI:: NC_000001.11:152156049:C:A,NC_000001.11:152156049:C:T
Gene:: RPTN (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0./0 (KOREAN)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.152156050C>A, NC_000001.11:g.152156050C>T, NC_000001.10:g.152128526C>A, NC_000001.10:g.152128526C>T, NM_001122965.1:c.1049G>T, NM_001122965.1:c.1049G>A, NM_152364.1:c.14G>T, NM_152364.1:c.14G>A, NP_001116437.1:p.Gly350Val, NP_001116437.1:p.Gly350Asp

Select item 14891011387.

rs1489101138 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 1:152155268 (GRCh38)
1:152127744 (GRCh37)
Canonical SPDI:: NC_000001.11:152155267:C:
Gene:: RPTN (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.152155268del, NC_000001.10:g.152127744del, NM_001122965.1:c.1831del, NM_152364.1:c.796del, NP_001116437.1:p.Glu611fs

Select item 14887495358.

rs1488749535 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:152160534 (GRCh38)
1:152133010 (GRCh37)
Canonical SPDI:: NC_000001.11:152160533:A:T
Gene:: RPTN (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_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_000001.11:g.152160534A>T, NC_000001.10:g.152133010A>T

Select item 14874742819.

rs1487474281 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:152155895 (GRCh38)
1:152128371 (GRCh37)
Canonical SPDI:: NC_000001.11:152155894:G:A
Gene:: RPTN (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=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.152155895G>A, NC_000001.10:g.152128371G>A, NM_001122965.1:c.1204C>T, NM_152364.1:c.169C>T, NP_001116437.1:p.His402Tyr

Select item 148708117010.

rs1487081170 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 1:152157793 (GRCh38)
1:152130269 (GRCh37)
Canonical SPDI:: NC_000001.11:152157792:A:C,NC_000001.11:152157792:A:T
Gene:: RPTN (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
T=0.000071/1 (TOMMO)
HGVS:: NC_000001.11:g.152157793A>C, NC_000001.11:g.152157793A>T, NC_000001.10:g.152130269A>C, NC_000001.10:g.152130269A>T, NM_001122965.1:c.97T>G, NM_001122965.1:c.97T>A, NP_001116437.1:p.Leu33Val, NP_001116437.1:p.Leu33Met

Select item 148698365811.

rs1486983658 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 1:152159535 (GRCh38)
1:152132011 (GRCh37)
Canonical SPDI:: NC_000001.11:152159534:T:A,NC_000001.11:152159534:T:C
Gene:: RPTN (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.152159535T>A, NC_000001.11:g.152159535T>C, NC_000001.10:g.152132011T>A, NC_000001.10:g.152132011T>C

Select item 148693453712.

rs1486934537 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:152157952 (GRCh38)
1:152130428 (GRCh37)
Canonical SPDI:: NC_000001.11:152157951:C:A
Gene:: RPTN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.152157952C>A, NC_000001.10:g.152130428C>A

Select item 148687188613.

rs1486871886 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:152155369 (GRCh38)
1:152127845 (GRCh37)
Canonical SPDI:: NC_000001.11:152155368:T:C
Gene:: RPTN (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.152155369T>C, NC_000001.10:g.152127845T>C, NM_001122965.1:c.1730A>G, NM_152364.1:c.695A>G, NP_001116437.1:p.Gln577Arg

Select item 148670940614.

rs1486709406 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:152156787 (GRCh38)
1:152129263 (GRCh37)
Canonical SPDI:: NC_000001.11:152156786:C:T
Gene:: RPTN (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000066/1 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000223/1 (Estonian)
HGVS:: NC_000001.11:g.152156787C>T, NC_000001.10:g.152129263C>T, NM_001122965.1:c.312G>A

Select item 148621182315.

rs1486211823 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:152158664 (GRCh38)
1:152131140 (GRCh37)
Canonical SPDI:: NC_000001.11:152158663:A:C
Gene:: RPTN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.152158664A>C, NC_000001.10:g.152131140A>C

Select item 148555574116.

rs1485555741 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 1:152161071 (GRCh38)
1:152133547 (GRCh37)
Canonical SPDI:: NC_000001.11:152161070:A:
Gene:: RPTN (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000076/20 (TOPMED)
-=0.000078/11 (GnomAD)
HGVS:: NC_000001.11:g.152161071del, NC_000001.10:g.152133547del

Select item 148508077117.

rs1485080771 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:152155015 (GRCh38)
1:152127491 (GRCh37)
Canonical SPDI:: NC_000001.11:152155014:T:C
Gene:: RPTN (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.152155015T>C, NC_000001.10:g.152127491T>C, NM_001122965.1:c.2084A>G, NM_152364.1:c.1049A>G, NP_001116437.1:p.Gln695Arg

Select item 148505804118.

rs1485058041 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 1:152155755 (GRCh38)
1:152128232 (GRCh37)
Canonical SPDI:: NC_000001.11:152155755::C
Gene:: RPTN (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00011/1 (ALFA)
C=0.00007/1 (TOMMO)
HGVS:: NC_000001.11:g.152155755_152155756insC, NC_000001.10:g.152128231_152128232insC, NM_001122965.1:c.1343_1344insG, NM_152364.1:c.308_309insG, NP_001116437.1:p.Asn448fs

Select item 148498416919.

rs1484984169 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:152156961 (GRCh38)
1:152129437 (GRCh37)
Canonical SPDI:: NC_000001.11:152156960:C:T
Gene:: RPTN (Varview)
Functional Consequence:: splice_acceptor_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_000001.11:g.152156961C>T, NC_000001.10:g.152129437C>T

Select item 148477103420.

rs1484771034 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:152157481 (GRCh38)
1:152129957 (GRCh37)
Canonical SPDI:: NC_000001.11:152157480:C:A
Gene:: RPTN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.152157481C>A, NC_000001.10:g.152129957C>A

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