SNP Links for Protein (Select 1034615851) - SNP

Links from Protein

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Select item 14842508861.

rs1484250886 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 2:237577372 (GRCh38)
2:238486015 (GRCh37)
Canonical SPDI:: NC_000002.12:237577371:A:C,NC_000002.12:237577371:A:G
Gene:: RAB17 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.237577372A>C, NC_000002.12:g.237577372A>G, NC_000002.11:g.238486015A>C, NC_000002.11:g.238486015A>G, NM_022449.4:c.320T>G, NM_022449.4:c.320T>C, NM_022449.3:c.320T>G, NM_022449.3:c.320T>C, XM_017004693.3:c.320T>G, XM_017004693.3:c.320T>C, XM_017004693.2:c.320T>G, XM_017004693.2:c.320T>C, XM_017004693.1:c.320T>G, XM_017004693.1:c.320T>C, XM_017004694.3:c.254T>G, XM_017004694.3:c.254T>C, XM_017004694.2:c.254T>G, XM_017004694.2:c.254T>C, XM_017004694.1:c.254T>G, XM_017004694.1:c.254T>C, XM_006712689.3:c.254T>G, XM_006712689.3:c.254T>C, XM_006712689.2:c.254T>G, XM_006712689.2:c.254T>C, XM_006712689.1:c.254T>G, XM_006712689.1:c.254T>C, NR_033308.2:n.439T>G, NR_033308.2:n.439T>C, NR_033308.1:n.831T>G, NR_033308.1:n.831T>C, XM_047445412.1:c.320T>G, XM_047445412.1:c.320T>C, XM_047445413.1:c.254T>G, XM_047445413.1:c.254T>C, NP_071894.1:p.Leu107Arg, NP_071894.1:p.Leu107Pro, XP_016860182.1:p.Leu107Arg, XP_016860182.1:p.Leu107Pro, XP_016860183.1:p.Leu85Arg, XP_016860183.1:p.Leu85Pro, XP_006712752.1:p.Leu85Arg, XP_006712752.1:p.Leu85Pro, XP_047301368.1:p.Leu107Arg, XP_047301368.1:p.Leu107Pro, XP_047301369.1:p.Leu85Arg, XP_047301369.1:p.Leu85Pro

Select item 14833452482.

rs1483345248 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:237578090 (GRCh38)
2:238486733 (GRCh37)
Canonical SPDI:: NC_000002.12:237578089:C:T
Gene:: RAB17 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.237578090C>T, NC_000002.11:g.238486733C>T, NM_022449.4:c.223G>A, NM_022449.3:c.223G>A, XM_017004693.3:c.223G>A, XM_017004693.2:c.223G>A, XM_017004693.1:c.223G>A, XM_017004694.3:c.157G>A, XM_017004694.2:c.157G>A, XM_017004694.1:c.157G>A, XM_006712689.3:c.157G>A, XM_006712689.2:c.157G>A, XM_006712689.1:c.157G>A, XM_047445412.1:c.223G>A, XM_047445413.1:c.157G>A, NP_071894.1:p.Ala75Thr, XP_016860182.1:p.Ala75Thr, XP_016860183.1:p.Ala53Thr, XP_006712752.1:p.Ala53Thr, XP_047301368.1:p.Ala75Thr, XP_047301369.1:p.Ala53Thr

Select item 14827291123.

rs1482729112 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:237576869 (GRCh38)
2:238485512 (GRCh37)
Canonical SPDI:: NC_000002.12:237576868:T:C
Gene:: RAB17 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.237576869T>C, NC_000002.11:g.238485512T>C, XM_017004693.3:c.823A>G, XM_017004693.2:c.823A>G, XM_017004693.1:c.823A>G, XM_017004694.3:c.757A>G, XM_017004694.2:c.757A>G, XM_017004694.1:c.757A>G, XP_016860182.1:p.Ser275Gly, XP_016860183.1:p.Ser253Gly

Select item 14826686894.

rs1482668689 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:237577085 (GRCh38)
2:238485728 (GRCh37)
Canonical SPDI:: NC_000002.12:237577084:G:T
Gene:: RAB17 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.237577085G>T, NC_000002.11:g.238485728G>T, XM_017004693.3:c.607C>A, XM_017004693.2:c.607C>A, XM_017004693.1:c.607C>A, XM_017004694.3:c.541C>A, XM_017004694.2:c.541C>A, XM_017004694.1:c.541C>A, XP_016860182.1:p.Pro203Thr, XP_016860183.1:p.Pro181Thr

Select item 14810926645.

rs1481092664 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:237577320 (GRCh38)
2:238485963 (GRCh37)
Canonical SPDI:: NC_000002.12:237577319:T:C
Gene:: RAB17 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000142/2 (ALFA)
C=0.000015/4 (TOPMED)
HGVS:: NC_000002.12:g.237577320T>C, NC_000002.11:g.238485963T>C, NM_022449.4:c.372A>G, NM_022449.3:c.372A>G, XM_017004693.3:c.372A>G, XM_017004693.2:c.372A>G, XM_017004693.1:c.372A>G, XM_017004694.3:c.306A>G, XM_017004694.2:c.306A>G, XM_017004694.1:c.306A>G, XM_006712689.3:c.306A>G, XM_006712689.2:c.306A>G, XM_006712689.1:c.306A>G, NR_033308.2:n.491A>G, NR_033308.1:n.883A>G, XM_047445412.1:c.372A>G, XM_047445413.1:c.306A>G

Select item 14738978216.

rs1473897821 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:237577286 (GRCh38)
2:238485929 (GRCh37)
Canonical SPDI:: NC_000002.12:237577285:G:A
Gene:: RAB17 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: A=0.000008/2 (GnomAD_exomes)
A=0.000814/14 (TOMMO)
HGVS:: NC_000002.12:g.237577286G>A, NC_000002.11:g.238485929G>A, NM_022449.4:c.406C>T, NM_022449.3:c.406C>T, XM_017004693.3:c.406C>T, XM_017004693.2:c.406C>T, XM_017004693.1:c.406C>T, XM_017004694.3:c.340C>T, XM_017004694.2:c.340C>T, XM_017004694.1:c.340C>T, XM_006712689.3:c.340C>T, XM_006712689.2:c.340C>T, XM_006712689.1:c.340C>T, NR_033308.2:n.525C>T, NR_033308.1:n.917C>T, XM_047445412.1:c.406C>T, XM_047445413.1:c.340C>T, NP_071894.1:p.Leu136Phe, XP_016860182.1:p.Leu136Phe, XP_016860183.1:p.Leu114Phe, XP_006712752.1:p.Leu114Phe, XP_047301368.1:p.Leu136Phe, XP_047301369.1:p.Leu114Phe

Select item 14703522447.

rs1470352244 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 2:237577033 (GRCh38)
2:238485676 (GRCh37)
Canonical SPDI:: NC_000002.12:237577032:T:C,NC_000002.12:237577032:T:G
Gene:: RAB17 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000002.12:g.237577033T>C, NC_000002.12:g.237577033T>G, NC_000002.11:g.238485676T>C, NC_000002.11:g.238485676T>G, XM_017004693.3:c.659A>G, XM_017004693.3:c.659A>C, XM_017004693.2:c.659A>G, XM_017004693.2:c.659A>C, XM_017004693.1:c.659A>G, XM_017004693.1:c.659A>C, XM_017004694.3:c.593A>G, XM_017004694.3:c.593A>C, XM_017004694.2:c.593A>G, XM_017004694.2:c.593A>C, XM_017004694.1:c.593A>G, XM_017004694.1:c.593A>C, XP_016860182.1:p.His220Arg, XP_016860182.1:p.His220Pro, XP_016860183.1:p.His198Arg, XP_016860183.1:p.His198Pro

Select item 14689251208.

rs1468925120 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:237576737 (GRCh38)
2:238485380 (GRCh37)
Canonical SPDI:: NC_000002.12:237576736:C:T
Gene:: RAB17 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000094/1 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.237576737C>T, NC_000002.11:g.238485380C>T, XM_017004693.3:c.955G>A, XM_017004693.2:c.955G>A, XM_017004693.1:c.955G>A, XM_017004694.3:c.889G>A, XM_017004694.2:c.889G>A, XM_017004694.1:c.889G>A, XP_016860182.1:p.Ala319Thr, XP_016860183.1:p.Ala297Thr

Select item 14658749789.

rs1465874978 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:237578070 (GRCh38)
2:238486713 (GRCh37)
Canonical SPDI:: NC_000002.12:237578069:G:A
Gene:: RAB17 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.237578070G>A, NC_000002.11:g.238486713G>A, NM_022449.4:c.243C>T, NM_022449.3:c.243C>T, XM_017004693.3:c.243C>T, XM_017004693.2:c.243C>T, XM_017004693.1:c.243C>T, XM_017004694.3:c.177C>T, XM_017004694.2:c.177C>T, XM_017004694.1:c.177C>T, XM_006712689.3:c.177C>T, XM_006712689.2:c.177C>T, XM_006712689.1:c.177C>T, XM_047445412.1:c.243C>T, XM_047445413.1:c.177C>T

Select item 145926788910.

rs1459267889 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 2:237577210 (GRCh38)
2:238485853 (GRCh37)
Canonical SPDI:: NC_000002.12:237577209:G:A,NC_000002.12:237577209:G:T
Gene:: RAB17 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.237577210G>A, NC_000002.12:g.237577210G>T, NC_000002.11:g.238485853G>A, NC_000002.11:g.238485853G>T, XM_017004693.3:c.482C>T, XM_017004693.3:c.482C>A, XM_017004693.2:c.482C>T, XM_017004693.2:c.482C>A, XM_017004693.1:c.482C>T, XM_017004693.1:c.482C>A, XM_017004694.3:c.416C>T, XM_017004694.3:c.416C>A, XM_017004694.2:c.416C>T, XM_017004694.2:c.416C>A, XM_017004694.1:c.416C>T, XM_017004694.1:c.416C>A, XP_016860182.1:p.Ala161Val, XP_016860182.1:p.Ala161Asp, XP_016860183.1:p.Ala139Val, XP_016860183.1:p.Ala139Asp

Select item 145769949411.

rs1457699494 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:237577307 (GRCh38)
2:238485950 (GRCh37)
Canonical SPDI:: NC_000002.12:237577306:G:C
Gene:: RAB17 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_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_000002.12:g.237577307G>C, NC_000002.11:g.238485950G>C, NM_022449.4:c.385C>G, NM_022449.3:c.385C>G, XM_017004693.3:c.385C>G, XM_017004693.2:c.385C>G, XM_017004693.1:c.385C>G, XM_017004694.3:c.319C>G, XM_017004694.2:c.319C>G, XM_017004694.1:c.319C>G, XM_006712689.3:c.319C>G, XM_006712689.2:c.319C>G, XM_006712689.1:c.319C>G, NR_033308.2:n.504C>G, NR_033308.1:n.896C>G, XM_047445412.1:c.385C>G, XM_047445413.1:c.319C>G, NP_071894.1:p.Leu129Val, XP_016860182.1:p.Leu129Val, XP_016860183.1:p.Leu107Val, XP_006712752.1:p.Leu107Val, XP_047301368.1:p.Leu129Val, XP_047301369.1:p.Leu107Val

Select item 145716279512.

rs1457162795 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:237577180 (GRCh38)
2:238485823 (GRCh37)
Canonical SPDI:: NC_000002.12:237577179:A:G
Gene:: RAB17 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.237577180A>G, NC_000002.11:g.238485823A>G, XM_017004693.3:c.512T>C, XM_017004693.2:c.512T>C, XM_017004693.1:c.512T>C, XM_017004694.3:c.446T>C, XM_017004694.2:c.446T>C, XM_017004694.1:c.446T>C, XP_016860182.1:p.Leu171Pro, XP_016860183.1:p.Leu149Pro

Select item 145607845313.

rs1456078453 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:237586059 (GRCh38)
2:238494702 (GRCh37)
Canonical SPDI:: NC_000002.12:237586058:C:A
Gene:: RAB17 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00007/1 (ALFA)
HGVS:: NC_000002.12:g.237586059C>A, NC_000002.11:g.238494702C>A, NM_022449.4:c.96G>T, NM_022449.3:c.96G>T, XM_017004693.3:c.96G>T, XM_017004693.2:c.96G>T, XM_017004693.1:c.96G>T, NR_033308.2:n.367G>T, NR_033308.1:n.759G>T, XM_047445412.1:c.96G>T, NP_071894.1:p.Lys32Asn, XP_016860182.1:p.Lys32Asn, XP_047301368.1:p.Lys32Asn

Select item 145101342614.

rs1451013426 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:237578022 (GRCh38)
2:238486665 (GRCh37)
Canonical SPDI:: NC_000002.12:237578021:C:T
Gene:: RAB17 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.237578022C>T, NC_000002.11:g.238486665C>T, NM_022449.4:c.291G>A, NM_022449.3:c.291G>A, XM_017004693.3:c.291G>A, XM_017004693.2:c.291G>A, XM_017004693.1:c.291G>A, XM_017004694.3:c.225G>A, XM_017004694.2:c.225G>A, XM_017004694.1:c.225G>A, XM_006712689.3:c.225G>A, XM_006712689.2:c.225G>A, XM_006712689.1:c.225G>A, XM_047445412.1:c.291G>A, XM_047445413.1:c.225G>A

Select item 145042520115.

rs1450425201 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:237578139 (GRCh38)
2:238486782 (GRCh37)
Canonical SPDI:: NC_000002.12:237578138:C:G,NC_000002.12:237578138:C:T
Gene:: RAB17 (Varview)
Functional Consequence:: missense_variant,synonymous_variant,coding_sequence_variant,intron_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_000002.12:g.237578139C>G, NC_000002.12:g.237578139C>T, NC_000002.11:g.238486782C>G, NC_000002.11:g.238486782C>T, NM_022449.4:c.174G>C, NM_022449.4:c.174G>A, NM_022449.3:c.174G>C, NM_022449.3:c.174G>A, XM_017004693.3:c.174G>C, XM_017004693.3:c.174G>A, XM_017004693.2:c.174G>C, XM_017004693.2:c.174G>A, XM_017004693.1:c.174G>C, XM_017004693.1:c.174G>A, XM_017004694.3:c.108G>C, XM_017004694.3:c.108G>A, XM_017004694.2:c.108G>C, XM_017004694.2:c.108G>A, XM_017004694.1:c.108G>C, XM_017004694.1:c.108G>A, XM_006712689.3:c.108G>C, XM_006712689.3:c.108G>A, XM_006712689.2:c.108G>C, XM_006712689.2:c.108G>A, XM_006712689.1:c.108G>C, XM_006712689.1:c.108G>A, XM_047445412.1:c.174G>C, XM_047445412.1:c.174G>A, XM_047445413.1:c.108G>C, XM_047445413.1:c.108G>A, NP_071894.1:p.Lys58Asn, XP_016860182.1:p.Lys58Asn, XP_016860183.1:p.Lys36Asn, XP_006712752.1:p.Lys36Asn, XP_047301368.1:p.Lys58Asn, XP_047301369.1:p.Lys36Asn

Select item 144736140416.

rs1447361404 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:237577081 (GRCh38)
2:238485724 (GRCh37)
Canonical SPDI:: NC_000002.12:237577080:T:C
Gene:: RAB17 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000029/4 (GnomAD)
HGVS:: NC_000002.12:g.237577081T>C, NC_000002.11:g.238485724T>C, XM_017004693.3:c.611A>G, XM_017004693.2:c.611A>G, XM_017004693.1:c.611A>G, XM_017004694.3:c.545A>G, XM_017004694.2:c.545A>G, XM_017004694.1:c.545A>G, XP_016860182.1:p.His204Arg, XP_016860183.1:p.His182Arg

Select item 144572259017.

rs1445722590 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:237576808 (GRCh38)
2:238485451 (GRCh37)
Canonical SPDI:: NC_000002.12:237576807:G:A
Gene:: RAB17 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.237576808G>A, NC_000002.11:g.238485451G>A, XM_017004693.3:c.884C>T, XM_017004693.2:c.884C>T, XM_017004693.1:c.884C>T, XM_017004694.3:c.818C>T, XM_017004694.2:c.818C>T, XM_017004694.1:c.818C>T, XP_016860182.1:p.Ala295Val, XP_016860183.1:p.Ala273Val

Select item 144203300118.

rs1442033001 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:237586097 (GRCh38)
2:238494740 (GRCh37)
Canonical SPDI:: NC_000002.12:237586096:A:G
Gene:: RAB17 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.237586097A>G, NC_000002.11:g.238494740A>G, NM_022449.4:c.58T>C, NM_022449.3:c.58T>C, XM_017004693.3:c.58T>C, XM_017004693.2:c.58T>C, XM_017004693.1:c.58T>C, XM_017004694.3:c.58T>C, XM_017004694.2:c.58T>C, XM_017004694.1:c.58T>C, XM_006712689.3:c.58T>C, XM_006712689.2:c.58T>C, XM_006712689.1:c.58T>C, NR_033308.2:n.329T>C, NR_033308.1:n.721T>C, XM_047445412.1:c.58T>C, XM_047445413.1:c.58T>C, NP_071894.1:p.Phe20Leu, XP_016860182.1:p.Phe20Leu, XP_016860183.1:p.Phe20Leu, XP_006712752.1:p.Phe20Leu, XP_047301368.1:p.Phe20Leu, XP_047301369.1:p.Phe20Leu

Select item 144084458919.

rs1440844589 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:237576886 (GRCh38)
2:238485529 (GRCh37)
Canonical SPDI:: NC_000002.12:237576885:A:G
Gene:: RAB17 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.237576886A>G, NC_000002.11:g.238485529A>G, XM_017004693.3:c.806T>C, XM_017004693.2:c.806T>C, XM_017004693.1:c.806T>C, XM_017004694.3:c.740T>C, XM_017004694.2:c.740T>C, XM_017004694.1:c.740T>C, XP_016860182.1:p.Leu269Pro, XP_016860183.1:p.Leu247Pro

Select item 144042925120.

rs1440429251 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:237577005 (GRCh38)
2:238485648 (GRCh37)
Canonical SPDI:: NC_000002.12:237577004:C:G
Gene:: RAB17 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000021/3 (GnomAD)
G=0.000034/9 (TOPMED)
HGVS:: NC_000002.12:g.237577005C>G, NC_000002.11:g.238485648C>G, XM_017004693.3:c.687G>C, XM_017004693.2:c.687G>C, XM_017004693.1:c.687G>C, XM_017004694.3:c.621G>C, XM_017004694.2:c.621G>C, XM_017004694.1:c.621G>C

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