SNP Links for Protein (Select 258547126) - SNP

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:116910976 (GRCh38)
6:117232139 (GRCh37)
Canonical SPDI:: NC_000006.12:116910975:A:C
Gene:: RFX6 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.116910976A>C, NC_000006.11:g.117232139A>C, NG_027699.1:g.38764A>C, NM_173560.4:c.714A>C, NM_173560.3:c.714A>C, XM_017010477.2:c.336A>C, XM_017010477.1:c.336A>C

Select item 14825942928.

rs1482594292 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 6:116922130 (GRCh38)
6:117243293 (GRCh37)
Canonical SPDI:: NC_000006.12:116922129:G:A,NC_000006.12:116922129:G:C
Gene:: RFX6 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.116922130G>A, NC_000006.12:g.116922130G>C, NC_000006.11:g.117243293G>A, NC_000006.11:g.117243293G>C, NG_027699.1:g.49918G>A, NG_027699.1:g.49918G>C, NM_173560.4:c.1416G>A, NM_173560.4:c.1416G>C, NM_173560.3:c.1416G>A, NM_173560.3:c.1416G>C, XM_011535589.2:c.1308G>A, XM_011535589.2:c.1308G>C, XM_011535589.1:c.1308G>A, XM_011535589.1:c.1308G>C, XM_017010477.2:c.1038G>A, XM_017010477.2:c.1038G>C, XM_017010477.1:c.1038G>A, XM_017010477.1:c.1038G>C

Select item 14785490709.

rs1478549070 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:116877453 (GRCh38)
6:117198616 (GRCh37)
Canonical SPDI:: NC_000006.12:116877452:G:A
Gene:: RFX6 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.00011/2 (TOMMO)
HGVS:: NC_000006.12:g.116877453G>A, NC_000006.11:g.117198616G>A, NG_027699.1:g.5241G>A, NM_173560.4:c.178G>A, NM_173560.3:c.178G>A, XM_011535589.2:c.178G>A, XM_011535589.1:c.178G>A, NP_775831.2:p.Gly60Arg, XP_011533891.1:p.Gly60Arg

Select item 147549047610.

rs1475490476 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:116877348 (GRCh38)
6:117198511 (GRCh37)
Canonical SPDI:: NC_000006.12:116877347:C:T
Gene:: RFX6 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.116877348C>T, NC_000006.11:g.117198511C>T, NG_027699.1:g.5136C>T, NM_173560.4:c.73C>T, NM_173560.3:c.73C>T, XM_011535589.2:c.73C>T, XM_011535589.1:c.73C>T, NP_775831.2:p.Gln25Ter, XP_011533891.1:p.Gln25Ter

Select item 147499714711.

rs1474997147 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:116880628 (GRCh38)
6:117201791 (GRCh37)
Canonical SPDI:: NC_000006.12:116880627:A:G
Gene:: RFX6 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_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_000006.12:g.116880628A>G, NC_000006.11:g.117201791A>G, NG_027699.1:g.8416A>G, NM_173560.4:c.465A>G, NM_173560.3:c.465A>G, XM_011535589.2:c.465A>G, XM_011535589.1:c.465A>G, XM_017010477.2:c.87A>G, XM_017010477.1:c.87A>G

Select item 147309458712.

rs1473094587 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:116928886 (GRCh38)
6:117250049 (GRCh37)
Canonical SPDI:: NC_000006.12:116928885:C:T
Gene:: RFX6 (Varview)
Functional Consequence:: synonymous_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_000006.12:g.116928886C>T, NC_000006.11:g.117250049C>T, NG_027699.1:g.56674C>T, NM_173560.4:c.2526C>T, NM_173560.3:c.2526C>T, XM_011535589.2:c.2418C>T, XM_011535589.1:c.2418C>T, XM_017010477.2:c.2148C>T, XM_017010477.1:c.2148C>T

Select item 147301398413.

rs1473013984 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 6:116877861 (GRCh38)
6:117199024 (GRCh37)
Canonical SPDI:: NC_000006.12:116877860:A:C,NC_000006.12:116877860:A:T
Gene:: RFX6 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000012/3 (GnomAD_exomes)
T=0.000093/13 (GnomAD)
HGVS:: NC_000006.12:g.116877861A>C, NC_000006.12:g.116877861A>T, NC_000006.11:g.117199024A>C, NC_000006.11:g.117199024A>T, NG_027699.1:g.5649A>C, NG_027699.1:g.5649A>T, NM_173560.4:c.289A>C, NM_173560.4:c.289A>T, NM_173560.3:c.289A>C, NM_173560.3:c.289A>T, XM_011535589.2:c.289A>C, XM_011535589.2:c.289A>T, XM_011535589.1:c.289A>C, XM_011535589.1:c.289A>T, NP_775831.2:p.Thr97Pro, NP_775831.2:p.Thr97Ser, XP_011533891.1:p.Thr97Pro, XP_011533891.1:p.Thr97Ser

Select item 147219138814.

rs1472191388 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:116927267 (GRCh38)
6:117248430 (GRCh37)
Canonical SPDI:: NC_000006.12:116927266:C:A
Gene:: RFX6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.116927267C>A, NC_000006.11:g.117248430C>A, NG_027699.1:g.55055C>A, NM_173560.4:c.2126C>A, NM_173560.3:c.2126C>A, XM_011535589.2:c.2018C>A, XM_011535589.1:c.2018C>A, XM_017010477.2:c.1748C>A, XM_017010477.1:c.1748C>A, NP_775831.2:p.Ala709Glu, XP_011533891.1:p.Ala673Glu, XP_016865966.1:p.Ala583Glu

Select item 147057028515.

rs1470570285 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 6:116931367 (GRCh38)
6:117252530 (GRCh37)
Canonical SPDI:: NC_000006.12:116931366:CCC:CC
Gene:: RFX6 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.116931369del, NC_000006.11:g.117252532del, NG_027699.1:g.59157del, NM_173560.4:c.2650del, NM_173560.3:c.2650del, XM_011535589.2:c.2542del, XM_011535589.1:c.2542del, XM_017010477.2:c.2272del, XM_017010477.1:c.2272del, NP_775831.2:p.Gln884fs, XP_011533891.1:p.Gln848fs, XP_016865966.1:p.Gln758fs

Select item 147043312816.

rs1470433128 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:116919287 (GRCh38)
6:117240450 (GRCh37)
Canonical SPDI:: NC_000006.12:116919286:T:C
Gene:: RFX6 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.116919287T>C, NC_000006.11:g.117240450T>C, NG_027699.1:g.47075T>C, NM_173560.4:c.1173T>C, NM_173560.3:c.1173T>C, XM_011535589.2:c.1065T>C, XM_011535589.1:c.1065T>C, XM_017010477.2:c.795T>C, XM_017010477.1:c.795T>C

Select item 146944203417.

rs1469442034 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 6:116925498 (GRCh38)
6:117246661 (GRCh37)
Canonical SPDI:: NC_000006.12:116925497:T:
Gene:: RFX6 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.116925498del, NC_000006.11:g.117246661del, NG_027699.1:g.53286del, NM_173560.4:c.1724del, NM_173560.3:c.1724del, XM_011535589.2:c.1616del, XM_011535589.1:c.1616del, XM_017010477.2:c.1346del, XM_017010477.1:c.1346del, NP_775831.2:p.Leu575fs, XP_011533891.1:p.Leu539fs, XP_016865966.1:p.Leu449fs

Select item 146898800318.

rs1468988003 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:116923204 (GRCh38)
6:117244367 (GRCh37)
Canonical SPDI:: NC_000006.12:116923203:T:G
Gene:: RFX6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.116923204T>G, NC_000006.11:g.117244367T>G, NG_027699.1:g.50992T>G, NM_173560.4:c.1535T>G, NM_173560.3:c.1535T>G, XM_011535589.2:c.1427T>G, XM_011535589.1:c.1427T>G, XM_017010477.2:c.1157T>G, XM_017010477.1:c.1157T>G, NP_775831.2:p.Leu512Trp, XP_011533891.1:p.Leu476Trp, XP_016865966.1:p.Leu386Trp

Select item 146837759319.

rs1468377593 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:116922048 (GRCh38)
6:117243211 (GRCh37)
Canonical SPDI:: NC_000006.12:116922047:C:G
Gene:: RFX6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000006.12:g.116922048C>G, NC_000006.11:g.117243211C>G, NG_027699.1:g.49836C>G, NM_173560.4:c.1334C>G, NM_173560.3:c.1334C>G, XM_011535589.2:c.1226C>G, XM_011535589.1:c.1226C>G, XM_017010477.2:c.956C>G, XM_017010477.1:c.956C>G, NP_775831.2:p.Ser445Cys, XP_011533891.1:p.Ser409Cys, XP_016865966.1:p.Ser319Cys

Select item 146786412620.

rs1467864126 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:116877903 (GRCh38)
6:117199066 (GRCh37)
Canonical SPDI:: NC_000006.12:116877902:A:G
Gene:: RFX6 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000006.12:g.116877903A>G, NC_000006.11:g.117199066A>G, NG_027699.1:g.5691A>G, NM_173560.4:c.331A>G, NM_173560.3:c.331A>G, XM_011535589.2:c.331A>G, XM_011535589.1:c.331A>G, NP_775831.2:p.Thr111Ala, XP_011533891.1:p.Thr111Ala

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