SNP Links for Gene (Select 79585) - SNP

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Select item 14910482451.

rs1491048245 has merged into rs61676929 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,A,AA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 16:4414199 (GRCh38)
16:4464200 (GRCh37)
Canonical SPDI:: NC_000016.10:4414190:AAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000016.10:4414190:AAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000016.10:4414190:AAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000016.10:4414190:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000016.10:4414190:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000016.10:4414190:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000016.10:4414190:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000016.10:4414190:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000016.10:4414190:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000016.10:4414190:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:4414190:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CORO7 (Varview), CORO7-PAM16 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
A=0.339451/5641 (TOMMO)
A=0.445887/2233 (1000Genomes)
HGVS:: NC_000016.10:g.4414199_4414207del, NC_000016.10:g.4414200_4414207del, NC_000016.10:g.4414201_4414207del, NC_000016.10:g.4414204_4414207del, NC_000016.10:g.4414205_4414207del, NC_000016.10:g.4414206_4414207del, NC_000016.10:g.4414207del, NC_000016.10:g.4414207dup, NC_000016.10:g.4414206_4414207dup, NC_000016.10:g.4414203_4414207dup, NC_000016.10:g.4414207_4414208insAAAAAAAAAAAAAAAAAAAAA, NC_000016.9:g.4464200_4464208del, NC_000016.9:g.4464201_4464208del, NC_000016.9:g.4464202_4464208del, NC_000016.9:g.4464205_4464208del, NC_000016.9:g.4464206_4464208del, NC_000016.9:g.4464207_4464208del, NC_000016.9:g.4464208del, NC_000016.9:g.4464208dup, NC_000016.9:g.4464207_4464208dup, NC_000016.9:g.4464204_4464208dup, NC_000016.9:g.4464208_4464209insAAAAAAAAAAAAAAAAAAAAA, NG_052966.1:g.7763_7771del, NG_052966.1:g.7764_7771del, NG_052966.1:g.7765_7771del, NG_052966.1:g.7768_7771del, NG_052966.1:g.7769_7771del, NG_052966.1:g.7770_7771del, NG_052966.1:g.7771del, NG_052966.1:g.7771dup, NG_052966.1:g.7770_7771dup, NG_052966.1:g.7767_7771dup, NG_052966.1:g.7771_7772insTTTTTTTTTTTTTTTTTTTTT, NT_187608.1:g.116522_116530del, NT_187608.1:g.116523_116530del, NT_187608.1:g.116524_116530del, NT_187608.1:g.116527_116530del, NT_187608.1:g.116528_116530del, NT_187608.1:g.116529_116530del, NT_187608.1:g.116530del, NT_187608.1:g.116530dup, NT_187608.1:g.116529_116530dup, NT_187608.1:g.116526_116530dup, NT_187608.1:g.116530_116531insAAAAAAAAAAAAAAAAAAAAA

Select item 14910391472.

rs1491039147 has merged into rs34020450 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 16:4379897 (GRCh38)
16:4429898 (GRCh37)
Canonical SPDI:: NC_000016.10:4379880:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000016.10:4379880:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000016.10:4379880:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000016.10:4379880:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000016.10:4379880:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000016.10:4379880:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:4379880:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:4379880:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:4379880:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:4379880:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:4379880:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CORO7 (Varview), VASN (Varview), CORO7-PAM16 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAAA=0./0 (ALFA)
-=0./0 (KOREAN)
HGVS:: NC_000016.10:g.4379897_4379900del, NC_000016.10:g.4379898_4379900del, NC_000016.10:g.4379899_4379900del, NC_000016.10:g.4379900del, NC_000016.10:g.4379900dup, NC_000016.10:g.4379899_4379900dup, NC_000016.10:g.4379898_4379900dup, NC_000016.10:g.4379896_4379900dup, NC_000016.10:g.4379893_4379900dup, NC_000016.10:g.4379892_4379900dup, NC_000016.10:g.4379891_4379900dup, NC_000016.9:g.4429898_4429901del, NC_000016.9:g.4429899_4429901del, NC_000016.9:g.4429900_4429901del, NC_000016.9:g.4429901del, NC_000016.9:g.4429901dup, NC_000016.9:g.4429900_4429901dup, NC_000016.9:g.4429899_4429901dup, NC_000016.9:g.4429897_4429901dup, NC_000016.9:g.4429894_4429901dup, NC_000016.9:g.4429893_4429901dup, NC_000016.9:g.4429892_4429901dup, NG_052966.1:g.42078_42081del, NG_052966.1:g.42079_42081del, NG_052966.1:g.42080_42081del, NG_052966.1:g.42081del, NG_052966.1:g.42081dup, NG_052966.1:g.42080_42081dup, NG_052966.1:g.42079_42081dup, NG_052966.1:g.42077_42081dup, NG_052966.1:g.42074_42081dup, NG_052966.1:g.42073_42081dup, NG_052966.1:g.42072_42081dup, NT_187608.1:g.82220_82223del, NT_187608.1:g.82221_82223del, NT_187608.1:g.82222_82223del, NT_187608.1:g.82223del, NT_187608.1:g.82223dup, NT_187608.1:g.82222_82223dup, NT_187608.1:g.82221_82223dup, NT_187608.1:g.82219_82223dup, NT_187608.1:g.82216_82223dup, NT_187608.1:g.82215_82223dup, NT_187608.1:g.82214_82223dup

Select item 14909011863.

rs1490901186 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 16:4405024 (GRCh38)
16:4455025 (GRCh37)
Canonical SPDI:: NC_000016.10:4405023:T:A,NC_000016.10:4405023:T:C
Gene:: CORO7 (Varview), CORO7-PAM16 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.4405024T>A, NC_000016.10:g.4405024T>C, NC_000016.9:g.4455025T>A, NC_000016.9:g.4455025T>C, NG_052966.1:g.16938A>T, NG_052966.1:g.16938A>G, NT_187608.1:g.107347T>A, NT_187608.1:g.107347T>C

Select item 14908822344.

rs1490882234 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:4380166 (GRCh38)
16:4430167 (GRCh37)
Canonical SPDI:: NC_000016.10:4380165:C:T
Gene:: CORO7 (Varview), VASN (Varview), CORO7-PAM16 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.4380166C>T, NC_000016.9:g.4430167C>T, NG_052966.1:g.41796G>A, NT_187608.1:g.82489C>T

Select item 14908528405.

rs1490852840 [Homo sapiens]

Variant type:: DEL
Alleles:: GGC>- [Show Flanks]
Chromosome:: 16:4378355 (GRCh38)
16:4428356 (GRCh37)
Canonical SPDI:: NC_000016.10:4378354:GGC:
Gene:: CORO7 (Varview), VASN (Varview), CORO7-PAM16 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: -=0.000043/6 (GnomAD)
HGVS:: NC_000016.10:g.4378355_4378357del, NC_000016.9:g.4428356_4428358del, NG_052966.1:g.43605_43607del, NT_187608.1:g.80678_80680del

Select item 14908156336.

rs1490815633 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:4383001 (GRCh38)
16:4433002 (GRCh37)
Canonical SPDI:: NC_000016.10:4383000:G:A
Gene:: CORO7 (Varview), VASN (Varview), CORO7-PAM16 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.4383001G>A, NC_000016.9:g.4433002G>A, NG_052966.1:g.38961C>T, NT_187608.1:g.85324G>A, NM_138440.3:c.*102G>A, NM_138440.2:c.*102G>A

Select item 14907871897.

rs1490787189 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 16:4395487 (GRCh38)
16:4445488 (GRCh37)
Canonical SPDI:: NC_000016.10:4395486:T:G
Gene:: CORO7 (Varview), CORO7-PAM16 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000016.10:g.4395487T>G, NC_000016.9:g.4445488T>G, NG_052966.1:g.26475A>C, NT_187608.1:g.97810T>G

Select item 14907465778.

rs1490746577 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 16:4395308 (GRCh38)
16:4445309 (GRCh37)
Canonical SPDI:: NC_000016.10:4395307:G:A,NC_000016.10:4395307:G:C,NC_000016.10:4395307:G:T
Gene:: CORO7 (Varview), CORO7-PAM16 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000019/5 (TOPMED)
T=0.000142/2 (TOMMO)
HGVS:: NC_000016.10:g.4395308G>A, NC_000016.10:g.4395308G>C, NC_000016.10:g.4395308G>T, NC_000016.9:g.4445309G>A, NC_000016.9:g.4445309G>C, NC_000016.9:g.4445309G>T, NG_052966.1:g.26654C>T, NG_052966.1:g.26654C>G, NG_052966.1:g.26654C>A, NM_024535.5:c.596C>T, NM_024535.5:c.596C>G, NM_024535.5:c.596C>A, NM_024535.4:c.596C>T, NM_024535.4:c.596C>G, NM_024535.4:c.596C>A, NM_001351729.2:c.-65C>T, NM_001351729.2:c.-65C>G, NM_001351729.2:c.-65C>A, NM_001351729.1:c.-65C>T, NM_001351729.1:c.-65C>G, NM_001351729.1:c.-65C>A, NM_001201472.2:c.542C>T, NM_001201472.2:c.542C>G, NM_001201472.2:c.542C>A, NM_001201472.1:c.542C>T, NM_001201472.1:c.542C>G, NM_001201472.1:c.542C>A, NM_001201473.2:c.341C>T, NM_001201473.2:c.341C>G, NM_001201473.2:c.341C>A, NM_001201473.1:c.341C>T, NM_001201473.1:c.341C>G, NM_001201473.1:c.341C>A, NT_187608.1:g.97631G>A, NT_187608.1:g.97631G>C, NT_187608.1:g.97631G>T, NM_001201479.2:c.596C>T, NM_001201479.2:c.596C>G, NM_001201479.2:c.596C>A, NM_001201479.1:c.596C>T, NM_001201479.1:c.596C>G, NM_001201479.1:c.596C>A, NR_145128.1:n.694C>T, NR_145128.1:n.694C>G, NR_145128.1:n.694C>A, NP_078811.3:p.Thr199Ile, NP_078811.3:p.Thr199Arg, NP_078811.3:p.Thr199Lys, NP_001188401.1:p.Thr181Ile, NP_001188401.1:p.Thr181Arg, NP_001188401.1:p.Thr181Lys, NP_001188402.1:p.Thr114Ile, NP_001188402.1:p.Thr114Arg, NP_001188402.1:p.Thr114Lys, NP_001188408.1:p.Thr199Ile, NP_001188408.1:p.Thr199Arg, NP_001188408.1:p.Thr199Lys

Select item 14907029189.

rs1490702918 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 16:4406808 (GRCh38)
16:4456809 (GRCh37)
Canonical SPDI:: NC_000016.10:4406807:T:A
Gene:: CORO7 (Varview), CORO7-PAM16 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000016.10:g.4406808T>A, NC_000016.9:g.4456809T>A, NG_052966.1:g.15154A>T, NT_187608.1:g.109131T>A

Select item 149065126210.

rs1490651262 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:4391701 (GRCh38)
16:4441702 (GRCh37)
Canonical SPDI:: NC_000016.10:4391700:C:T
Gene:: CORO7 (Varview), CORO7-PAM16 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000016.10:g.4391701C>T, NC_000016.9:g.4441702C>T, NG_052966.1:g.30261G>A, NT_187608.1:g.94024C>T

Select item 149063984111.

rs1490639841 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:4394395 (GRCh38)
16:4444396 (GRCh37)
Canonical SPDI:: NC_000016.10:4394394:G:A
Gene:: CORO7 (Varview), CORO7-PAM16 (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_000016.10:g.4394395G>A, NC_000016.9:g.4444396G>A, NG_052966.1:g.27567C>T, NT_187608.1:g.96718G>A

Select item 149058277812.

rs1490582778 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:4363789 (GRCh38)
16:4413790 (GRCh37)
Canonical SPDI:: NC_000016.10:4363788:C:T
Gene:: CORO7 (Varview), CORO7-PAM16 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00012/2 (ALFA)
T=0.000215/30 (GnomAD)
T=0.000446/2 (Estonian)
HGVS:: NC_000016.10:g.4363789C>T, NC_000016.9:g.4413790C>T, NG_052966.1:g.58173G>A, NT_187608.1:g.66112C>T

Select item 149058242413.

rs1490582424 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 16:4405611 (GRCh38)
16:4455612 (GRCh37)
Canonical SPDI:: NC_000016.10:4405610:C:G,NC_000016.10:4405610:C:T
Gene:: CORO7 (Varview), CORO7-PAM16 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (GnomAD)
HGVS:: NC_000016.10:g.4405611C>G, NC_000016.10:g.4405611C>T, NC_000016.9:g.4455612C>G, NC_000016.9:g.4455612C>T, NG_052966.1:g.16351G>C, NG_052966.1:g.16351G>A, NT_187608.1:g.107934C>G, NT_187608.1:g.107934C>T

Select item 149054804614.

rs1490548046 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 16:4364195 (GRCh38)
16:4414196 (GRCh37)
Canonical SPDI:: NC_000016.10:4364194:A:T
Gene:: CORO7 (Varview), CORO7-PAM16 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.4364195A>T, NC_000016.9:g.4414196A>T, NG_052966.1:g.57767T>A, NT_187608.1:g.66518A>T

Select item 149054167415.

rs1490541674 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:4406475 (GRCh38)
16:4456476 (GRCh37)
Canonical SPDI:: NC_000016.10:4406474:T:C
Gene:: CORO7 (Varview), CORO7-PAM16 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.4406475T>C, NC_000016.9:g.4456476T>C, NG_052966.1:g.15487A>G, NT_187608.1:g.108798T>C

Select item 149052871816.

rs1490528718 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 16:4417711 (GRCh38)
16:4467712 (GRCh37)
Canonical SPDI:: NC_000016.10:4417709:AAA:A
Gene:: CORO7 (Varview), CORO7-PAM16 (Varview), LOC124903635 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.4417711_4417712del, NC_000016.9:g.4467712_4467713del, NG_052966.1:g.4251_4252del, NT_187608.1:g.120034_120035del

Select item 149047933417.

rs1490479334 [Homo sapiens]

Variant type:: INS
Alleles:: ->AGG [Show Flanks]
Chromosome:: 16:4375960 (GRCh38)
16:4425962 (GRCh37)
Canonical SPDI:: NC_000016.10:4375960::AGG
Gene:: CORO7 (Varview), VASN (Varview), CORO7-PAM16 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGG=0./0 (ALFA)
AGG=0.000004/1 (TOPMED)
AGG=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.4375960_4375961insAGG, NC_000016.9:g.4425961_4425962insAGG, NG_052966.1:g.46001_46002insCCT, NT_187608.1:g.78283_78284insAGG

Select item 149046683918.

rs1490466839 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 16:4388405 (GRCh38)
16:4438406 (GRCh37)
Canonical SPDI:: NC_000016.10:4388404:C:A,NC_000016.10:4388404:C:T
Gene:: CORO7 (Varview), CORO7-PAM16 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000016.10:g.4388405C>A, NC_000016.10:g.4388405C>T, NC_000016.9:g.4438406C>A, NC_000016.9:g.4438406C>T, NG_052966.1:g.33557G>T, NG_052966.1:g.33557G>A, NT_187608.1:g.90728C>A, NT_187608.1:g.90728C>T

Select item 149045353319.

rs1490453533 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 16:4404155 (GRCh38)
16:4454156 (GRCh37)
Canonical SPDI:: NC_000016.10:4404154:G:
Gene:: CORO7 (Varview), CORO7-PAM16 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000159/3 (ALFA)
-=0.000021/3 (GnomAD)
-=0.00067/3 (Estonian)
HGVS:: NC_000016.10:g.4404155del, NC_000016.9:g.4454156del, NG_052966.1:g.17807del, NT_187608.1:g.106478del

Select item 149044361820.

rs1490443618 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 16:4376815 (GRCh38)
16:4426817 (GRCh37)
Canonical SPDI:: NC_000016.10:4376815:CCCCC:CCCCCC
Gene:: CORO7 (Varview), VASN (Varview), CORO7-PAM16 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CCCCCC=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.4376820dup, NC_000016.9:g.4426821dup, NG_052966.1:g.45146dup, NT_187608.1:g.79143dup

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