SNP Links for Gene (Select 653073) - SNP

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Select item 14908130121.

rs1490813012 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 15:30094735 (GRCh38)
15:30386938 (GRCh37)
Canonical SPDI:: NC_000015.10:30094734:G:T
Gene:: GOLGA8J (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000084/1 (ALFA)
T=0.000026/3 (GnomAD)
HGVS:: NC_000015.10:g.30094735G>T, NC_000015.9:g.30386938G>T, NW_011332701.1:g.2267455G>T, NT_187660.1:g.2379939G>T, NW_012132920.1:g.82402G>T, XM_006720651.4:c.*1236G>T, XM_006720651.3:c.*1236G>T, XM_006720651.2:c.*1236G>T, NM_001282472.2:c.*1236G>T, NM_001282472.1:c.*1236G>T, XM_047432963.1:c.*1236G>T

Select item 14907864072.

rs1490786407 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:30087750 (GRCh38)
15:30379953 (GRCh37)
Canonical SPDI:: NC_000015.10:30087749:G:A
Gene:: GOLGA8J (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/1 (GnomAD)
HGVS:: NC_000015.10:g.30087750G>A, NC_000015.9:g.30379953G>A, NW_011332701.1:g.2260470G>A, NT_187660.1:g.2372954G>A, NW_012132920.1:g.75429G>A

Select item 14907781743.

rs1490778174 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:30092938 (GRCh38)
15:30385141 (GRCh37)
Canonical SPDI:: NC_000015.10:30092937:C:T
Gene:: GOLGA8J (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00052/7 (ALFA)
T=0.000188/10 (GnomAD_exomes)
T=0.000672/178 (TOPMED)
T=0.00069/66 (GnomAD)
T=0.000781/5 (1000Genomes)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000015.10:g.30092938C>T, NC_000015.9:g.30385141C>T, NW_011332701.1:g.2265658C>T, NT_187660.1:g.2378142C>T, NW_012132920.1:g.80605C>T, XM_006720651.4:c.1478C>T, XM_006720651.3:c.1478C>T, XM_006720651.2:c.1478C>T, XM_006720651.1:c.1478C>T, NM_001282472.2:c.1517C>T, NM_001282472.1:c.1517C>T, XR_002957674.2:n.1934C>T, XR_002957674.1:n.2261C>T, XM_047432963.1:c.1274C>T, XP_006720714.1:p.Ala493Val, NP_001269401.1:p.Ala506Val, XP_047288919.1:p.Ala425Val

Select item 14905608774.

rs1490560877 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:30093017 (GRCh38)
15:30385220 (GRCh37)
Canonical SPDI:: NC_000015.10:30093016:G:A
Gene:: GOLGA8J (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.30093017G>A, NC_000015.9:g.30385220G>A, NW_011332701.1:g.2265737G>A, NT_187660.1:g.2378221G>A, NW_012132920.1:g.80684G>A

Select item 14903482405.

rs1490348240 has merged into rs370864009 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTGTGTGTGTG>-,TG,TGTG,TGTGTG,TGTGTGTG,TGTGTGTGTG,TGTGTGTGTGTGTG,TGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG [Show Flanks]
Chromosome:: 15:30088068 (GRCh38)
15:30380271 (GRCh37)
Canonical SPDI:: NC_000015.10:30088052:GTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTG,NC_000015.10:30088052:GTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTG,NC_000015.10:30088052:GTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTG,NC_000015.10:30088052:GTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTG,NC_000015.10:30088052:GTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTG,NC_000015.10:30088052:GTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTG,NC_000015.10:30088052:GTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000015.10:30088052:GTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000015.10:30088052:GTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000015.10:30088052:GTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000015.10:30088052:GTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000015.10:30088052:GTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000015.10:30088052:GTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000015.10:30088052:GTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000015.10:30088052:GTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
Gene:: GOLGA8J (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGTGTGTG=0./0 (ALFA)
-=0.01807/67 (TWINSUK)
-=0.02361/91 (ALSPAC)
-=0.15/6 (GENOME_DK)
HGVS:: NC_000015.10:g.30088054TG[7], NC_000015.10:g.30088054TG[8], NC_000015.10:g.30088054TG[9], NC_000015.10:g.30088054TG[10], NC_000015.10:g.30088054TG[11], NC_000015.10:g.30088054TG[12], NC_000015.10:g.30088054TG[14], NC_000015.10:g.30088054TG[15], NC_000015.10:g.30088054TG[16], NC_000015.10:g.30088054TG[17], NC_000015.10:g.30088054TG[18], NC_000015.10:g.30088054TG[19], NC_000015.10:g.30088054TG[20], NC_000015.10:g.30088054TG[21], NC_000015.10:g.30088054TG[22], NC_000015.9:g.30380257TG[7], NC_000015.9:g.30380257TG[8], NC_000015.9:g.30380257TG[9], NC_000015.9:g.30380257TG[10], NC_000015.9:g.30380257TG[11], NC_000015.9:g.30380257TG[12], NC_000015.9:g.30380257TG[14], NC_000015.9:g.30380257TG[15], NC_000015.9:g.30380257TG[16], NC_000015.9:g.30380257TG[17], NC_000015.9:g.30380257TG[18], NC_000015.9:g.30380257TG[19], NC_000015.9:g.30380257TG[20], NC_000015.9:g.30380257TG[21], NC_000015.9:g.30380257TG[22], NW_011332701.1:g.2260774TG[7], NW_011332701.1:g.2260774TG[8], NW_011332701.1:g.2260774TG[9], NW_011332701.1:g.2260774TG[10], NW_011332701.1:g.2260774TG[11], NW_011332701.1:g.2260774TG[12], NW_011332701.1:g.2260774TG[14], NW_011332701.1:g.2260774TG[15], NW_011332701.1:g.2260774TG[16], NW_011332701.1:g.2260774TG[17], NW_011332701.1:g.2260774TG[18], NW_011332701.1:g.2260774TG[19], NW_011332701.1:g.2260774TG[20], NW_011332701.1:g.2260774TG[21], NW_011332701.1:g.2260774TG[22], NT_187660.1:g.2373258TG[7], NT_187660.1:g.2373258TG[8], NT_187660.1:g.2373258TG[9], NT_187660.1:g.2373258TG[10], NT_187660.1:g.2373258TG[11], NT_187660.1:g.2373258TG[12], NT_187660.1:g.2373258TG[14], NT_187660.1:g.2373258TG[15], NT_187660.1:g.2373258TG[16], NT_187660.1:g.2373258TG[17], NT_187660.1:g.2373258TG[18], NT_187660.1:g.2373258TG[19], NT_187660.1:g.2373258TG[20], NT_187660.1:g.2373258TG[21], NT_187660.1:g.2373258TG[22], NW_012132920.1:g.75733TG[11], NW_012132920.1:g.75733TG[12], NW_012132920.1:g.75733TG[13], NW_012132920.1:g.75733TG[14], NW_012132920.1:g.75733TG[15], NW_012132920.1:g.75733TG[16], NW_012132920.1:g.75733TG[18], NW_012132920.1:g.75733TG[19], NW_012132920.1:g.75733TG[20], NW_012132920.1:g.75733TG[21], NW_012132920.1:g.75733TG[22], NW_012132920.1:g.75733TG[23], NW_012132920.1:g.75733TG[24], NW_012132920.1:g.75733TG[25], NW_012132920.1:g.75733TG[26]

Select item 14903391586.

rs1490339158 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:30093607 (GRCh38)
15:30385810 (GRCh37)
Canonical SPDI:: NC_000015.10:30093606:T:C
Gene:: GOLGA8J (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000041/5 (GnomAD)
HGVS:: NC_000015.10:g.30093607T>C, NC_000015.9:g.30385810T>C, NW_011332701.1:g.2266327T>C, NT_187660.1:g.2378811T>C, NW_012132920.1:g.81274T>C, XM_006720651.4:c.*108T>C, XM_006720651.3:c.*108T>C, XM_006720651.2:c.*108T>C, XM_006720651.1:c.*108T>C, NM_001282472.2:c.*108T>C, NM_001282472.1:c.*108T>C, XM_047432963.1:c.*108T>C

Select item 14903235317.

rs1490323531 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:30095594 (GRCh38)
15:30387797 (GRCh37)
Canonical SPDI:: NC_000015.10:30095593:A:G
Gene:: GOLGA8J (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000029/3 (GnomAD)
HGVS:: NC_000015.10:g.30095594A>G, NC_000015.9:g.30387797A>G, NW_011332701.1:g.2268314A>G, NT_187660.1:g.2380798A>G, NW_012132920.1:g.83261A>G, XM_006720651.4:c.*2095A>G, XM_006720651.3:c.*2095A>G, XM_006720651.2:c.*2095A>G, NM_001282472.2:c.*2095A>G, NM_001282472.1:c.*2095A>G, XM_047432963.1:c.*2095A>G

Select item 14902962848.

rs1490296284 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:30085980 (GRCh38)
15:30378183 (GRCh37)
Canonical SPDI:: NC_000015.10:30085979:C:T
Gene:: GOLGA8J (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000015.10:g.30085980C>T, NC_000015.9:g.30378183C>T, NW_011332701.1:g.2258700C>T, NT_187660.1:g.2371184C>T, NW_012132920.1:g.73659C>T

Select item 14902788209.

rs1490278820 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 15:30093205 (GRCh38)
15:30385408 (GRCh37)
Canonical SPDI:: NC_000015.10:30093204:C:A,NC_000015.10:30093204:C:T
Gene:: GOLGA8J (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000241/5 (ALFA)
T=0.000474/63 (GnomAD)
T=0.002342/15 (1000Genomes)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000015.10:g.30093205C>A, NC_000015.10:g.30093205C>T, NC_000015.9:g.30385408C>A, NC_000015.9:g.30385408C>T, NW_011332701.1:g.2265925C>A, NW_011332701.1:g.2265925C>T, NT_187660.1:g.2378409C>A, NT_187660.1:g.2378409C>T, NW_012132920.1:g.80872T>C, NW_012132920.1:g.80872T>A, XM_006720651.4:c.1650C>A, XM_006720651.4:c.1650C>T, XM_006720651.3:c.1650C>A, XM_006720651.3:c.1650C>T, XM_006720651.2:c.1650C>A, XM_006720651.2:c.1650C>T, XM_006720651.1:c.1650C>A, XM_006720651.1:c.1650C>T, NM_001282472.2:c.1689C>A, NM_001282472.2:c.1689C>T, NM_001282472.1:c.1689C>A, NM_001282472.1:c.1689C>T, XM_047432963.1:c.1446C>A, XM_047432963.1:c.1446C>T

Select item 148985776610.

rs1489857766 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 15:30087758 (GRCh38)
15:30379961 (GRCh37)
Canonical SPDI:: NC_000015.10:30087757:C:A
Gene:: GOLGA8J (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000015.10:g.30087758C>A, NC_000015.9:g.30379961C>A, NW_011332701.1:g.2260478C>A, NT_187660.1:g.2372962C>A, NW_012132920.1:g.75437C>A

Select item 148983456911.

rs1489834569 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:30096585 (GRCh38)
15:30388788 (GRCh37)
Canonical SPDI:: NC_000015.10:30096584:T:C
Gene:: GOLGA8J (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000015.10:g.30096585T>C, NC_000015.9:g.30388788T>C, NW_011332701.1:g.2269305T>C, NT_187660.1:g.2381789T>C, NW_012132920.1:g.84252T>C, XM_006720651.4:c.*3086T>C, XM_006720651.3:c.*3086T>C, NM_001282472.2:c.*3086T>C, NM_001282472.1:c.*3086T>C, XM_047432963.1:c.*3086T>C

Select item 148978549612.

rs1489785496 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 15:30093511 (GRCh38)
15:30385714 (GRCh37)
Canonical SPDI:: NC_000015.10:30093510:C:A,NC_000015.10:30093510:C:G
Gene:: GOLGA8J (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000084/1 (ALFA)
A=0.000023/3 (GnomAD)
A=0.000036/1 (TOMMO)
HGVS:: NC_000015.10:g.30093511C>A, NC_000015.10:g.30093511C>G, NC_000015.9:g.30385714C>A, NC_000015.9:g.30385714C>G, NW_011332701.1:g.2266231C>A, NW_011332701.1:g.2266231C>G, NT_187660.1:g.2378715C>A, NT_187660.1:g.2378715C>G, NW_012132920.1:g.81178C>A, NW_012132920.1:g.81178C>G, XM_006720651.4:c.*12C>A, XM_006720651.4:c.*12C>G, XM_006720651.3:c.*12C>A, XM_006720651.3:c.*12C>G, XM_006720651.2:c.*12C>A, XM_006720651.2:c.*12C>G, XM_006720651.1:c.*12C>A, XM_006720651.1:c.*12C>G, NM_001282472.2:c.*12C>A, NM_001282472.2:c.*12C>G, NM_001282472.1:c.*12C>A, NM_001282472.1:c.*12C>G, XM_047432963.1:c.*12C>A, XM_047432963.1:c.*12C>G

Select item 148977926713.

rs1489779267 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:30087914 (GRCh38)
15:30380117 (GRCh37)
Canonical SPDI:: NC_000015.10:30087913:G:A
Gene:: GOLGA8J (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.002067/37 (ALFA)
A=0.001198/161 (GnomAD)
A=0.001614/86 (GnomAD_exomes)
A=0.003904/25 (1000Genomes)
A=0.04489/130 (KOREAN)
A=0.047795/791 (TOMMO)
G=0.125/1 (SGDP_PRJ)
HGVS:: NC_000015.10:g.30087914G>A, NC_000015.9:g.30380117G>A, NW_011332701.1:g.2260634G>A, NT_187660.1:g.2373118G>A, NW_012132920.1:g.75593G>A

Select item 148956865014.

rs1489568650 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:30091826 (GRCh38)
15:30384029 (GRCh37)
Canonical SPDI:: NC_000015.10:30091825:G:A
Gene:: GOLGA8J (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000053/7 (GnomAD)
HGVS:: NC_000015.10:g.30091826G>A, NC_000015.9:g.30384029G>A, NG_045684.1:g.265G>A, NW_012132920.1:g.79495G>A, NW_011332701.1:g.2264546G>A, NT_187660.1:g.2377030G>A

Select item 148952426115.

rs1489524261 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:30081811 (GRCh38)
15:30374014 (GRCh37)
Canonical SPDI:: NC_000015.10:30081810:C:T
Gene:: GOLGA8J (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.00043/7 (ALFA)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000015.10:g.30081811C>T, NC_000015.9:g.30374014C>T, NW_011332701.1:g.2254531C>T, NT_187660.1:g.2367015C>T, NW_012132920.1:g.69490C>T

Select item 148949393816.

rs1489493938 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->TACC
Chromosome:: no mapping
Canonical SPDI:

Select item 148946713417.

rs1489467134 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 15:30091496 (GRCh38)
15:30383699 (GRCh37)
Canonical SPDI:: NC_000015.10:30091495:G:A,NC_000015.10:30091495:G:T
Gene:: GOLGA8J (Varview)
Functional Consequence:: 3_prime_UTR_variant,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_000015.10:g.30091496G>A, NC_000015.10:g.30091496G>T, NC_000015.9:g.30383699G>A, NC_000015.9:g.30383699G>T, NW_011332701.1:g.2264216G>A, NW_011332701.1:g.2264216G>T, NT_187660.1:g.2376700G>A, NT_187660.1:g.2376700G>T, NW_012132920.1:g.79165G>A, NW_012132920.1:g.79165G>T, XM_011521950.3:c.*140G>A, XM_011521950.3:c.*140G>T, XM_011521950.2:c.*140G>A, XM_011521950.2:c.*140G>T, XM_011521950.1:c.*140G>A, XM_011521950.1:c.*140G>T

Select item 148937901918.

rs1489379019 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:30092600 (GRCh38)
15:30384803 (GRCh37)
Canonical SPDI:: NC_000015.10:30092599:C:T
Gene:: GOLGA8J (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000046/6 (GnomAD)
HGVS:: NC_000015.10:g.30092600C>T, NC_000015.9:g.30384803C>T, NW_011332701.1:g.2265320C>T, NT_187660.1:g.2377804C>T, NW_012132920.1:g.80269C>T, XR_002957674.2:n.1678C>T, XR_002957674.1:n.2005C>T

Select item 148934257819.

rs1489342578 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 15:30096837 (GRCh38)
15:30389040 (GRCh37)
Canonical SPDI:: NC_000015.10:30096836:T:G
Gene:: GOLGA8J (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
HGVS:: NC_000015.10:g.30096837T>G, NC_000015.9:g.30389040T>G, NW_011332701.1:g.2269557T>G, NT_187660.1:g.2382041T>G, NW_012132920.1:g.84504T>G

Select item 148928448920.

rs1489284489 [Homo sapiens]

Variant type:: SNV:
Alleles:: C>A
Chromosome:: no mapping
Canonical SPDI:

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