SNP Links for Gene (Select 2001) - SNP

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Select item 14915785821.

rs1491578582 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 11:34479689 (GRCh38)
11:34501237 (GRCh37)
Canonical SPDI:: NC_000011.10:34479689::C
Gene:: ELF5 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.34479689_34479690insC, NC_000011.9:g.34501236_34501237insC, NG_029477.2:g.39104_39105insG, NG_029477.1:g.39111_39112insG, NM_001422.4:c.*528_*529insG, NM_001422.3:c.*528_*529insG, NM_198381.2:c.*528_*529insG, NM_198381.1:c.*528_*529insG, NM_001243081.2:c.*528_*529insG, NM_001243081.1:c.*528_*529insG, NM_001243080.2:c.*528_*529insG, NM_001243080.1:c.*528_*529insG, XM_017017308.2:c.*528_*529insG, XM_017017308.1:c.*528_*529insG, XM_017017309.2:c.*528_*529insG, XM_017017309.1:c.*528_*529insG

Select item 14914061792.

rs1491406179 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 11:34515573 (GRCh38)
11:34537121 (GRCh37)
Canonical SPDI:: NC_000011.10:34515573:G:GG
Gene:: ELF5 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.34515574dup, NC_000011.9:g.34537121dup, NG_029477.2:g.3220dup, NG_029477.1:g.3227dup

Select item 14912350603.

rs1491235060 has merged into rs11388919 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA [Show Flanks]
Chromosome:: 11:34479695 (GRCh38)
11:34501242 (GRCh37)
Canonical SPDI:: NC_000011.10:34479688:AAAAAAAAAAAAA:AAAAAA,NC_000011.10:34479688:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000011.10:34479688:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:34479688:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:34479688:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:34479688:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAA
Gene:: ELF5 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
A=0.3435/1720 (1000Genomes)
HGVS:: NC_000011.10:g.34479695_34479701del, NC_000011.10:g.34479700_34479701del, NC_000011.10:g.34479701del, NC_000011.10:g.34479701dup, NC_000011.10:g.34479700_34479701dup, NC_000011.10:g.34479699_34479701dup, NC_000011.9:g.34501242_34501248del, NC_000011.9:g.34501247_34501248del, NC_000011.9:g.34501248del, NC_000011.9:g.34501248dup, NC_000011.9:g.34501247_34501248dup, NC_000011.9:g.34501246_34501248dup, NG_029477.2:g.39099_39105del, NG_029477.2:g.39104_39105del, NG_029477.2:g.39105del, NG_029477.2:g.39105dup, NG_029477.2:g.39104_39105dup, NG_029477.2:g.39103_39105dup, NG_029477.1:g.39106_39112del, NG_029477.1:g.39111_39112del, NG_029477.1:g.39112del, NG_029477.1:g.39112dup, NG_029477.1:g.39111_39112dup, NG_029477.1:g.39110_39112dup, NM_001422.4:c.*523_*529del, NM_001422.4:c.*528_*529del, NM_001422.4:c.*529del, NM_001422.4:c.*529dup, NM_001422.4:c.*528_*529dup, NM_001422.4:c.*527_*529dup, NM_001422.3:c.*523_*529del, NM_001422.3:c.*528_*529del, NM_001422.3:c.*529del, NM_001422.3:c.*529dup, NM_001422.3:c.*528_*529dup, NM_001422.3:c.*527_*529dup, NM_198381.2:c.*523_*529del, NM_198381.2:c.*528_*529del, NM_198381.2:c.*529del, NM_198381.2:c.*529dup, NM_198381.2:c.*528_*529dup, NM_198381.2:c.*527_*529dup, NM_198381.1:c.*523_*529del, NM_198381.1:c.*528_*529del, NM_198381.1:c.*529del, NM_198381.1:c.*529dup, NM_198381.1:c.*528_*529dup, NM_198381.1:c.*527_*529dup, NM_001243081.2:c.*523_*529del, NM_001243081.2:c.*528_*529del, NM_001243081.2:c.*529del, NM_001243081.2:c.*529dup, NM_001243081.2:c.*528_*529dup, NM_001243081.2:c.*527_*529dup, NM_001243081.1:c.*523_*529del, NM_001243081.1:c.*528_*529del, NM_001243081.1:c.*529del, NM_001243081.1:c.*529dup, NM_001243081.1:c.*528_*529dup, NM_001243081.1:c.*527_*529dup, NM_001243080.2:c.*523_*529del, NM_001243080.2:c.*528_*529del, NM_001243080.2:c.*529del, NM_001243080.2:c.*529dup, NM_001243080.2:c.*528_*529dup, NM_001243080.2:c.*527_*529dup, NM_001243080.1:c.*523_*529del, NM_001243080.1:c.*528_*529del, NM_001243080.1:c.*529del, NM_001243080.1:c.*529dup, NM_001243080.1:c.*528_*529dup, NM_001243080.1:c.*527_*529dup, XM_017017308.2:c.*523_*529del, XM_017017308.2:c.*528_*529del, XM_017017308.2:c.*529del, XM_017017308.2:c.*529dup, XM_017017308.2:c.*528_*529dup, XM_017017308.2:c.*527_*529dup, XM_017017308.1:c.*523_*529del, XM_017017308.1:c.*528_*529del, XM_017017308.1:c.*529del, XM_017017308.1:c.*529dup, XM_017017308.1:c.*528_*529dup, XM_017017308.1:c.*527_*529dup, XM_017017309.2:c.*523_*529del, XM_017017309.2:c.*528_*529del, XM_017017309.2:c.*529del, XM_017017309.2:c.*529dup, XM_017017309.2:c.*528_*529dup, XM_017017309.2:c.*527_*529dup, XM_017017309.1:c.*523_*529del, XM_017017309.1:c.*528_*529del, XM_017017309.1:c.*529del, XM_017017309.1:c.*529dup, XM_017017309.1:c.*528_*529dup, XM_017017309.1:c.*527_*529dup

Select item 14911114424.

rs1491111442 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 11:34515575 (GRCh38)
11:34537122 (GRCh37)
Canonical SPDI:: NC_000011.10:34515572:AGAG:AG
Gene:: ELF5 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AGAG=0.000224/1 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.34515573AG[1], NC_000011.9:g.34537120AG[1], NG_029477.2:g.3218CT[1], NG_029477.1:g.3225CT[1]

Select item 14910838985.

rs1491083898 has merged into rs33963110 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 11:34510324 (GRCh38)
11:34531871 (GRCh37)
Canonical SPDI:: NC_000011.10:34510311:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000011.10:34510311:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000011.10:34510311:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000011.10:34510311:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000011.10:34510311:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000011.10:34510311:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000011.10:34510311:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000011.10:34510311:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:34510311:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:34510311:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ELF5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTT=0./0 (ALFA)
TT=0.1788/663 (TWINSUK)
TT=0.18319/706 (ALSPAC)
HGVS:: NC_000011.10:g.34510324_34510326del, NC_000011.10:g.34510325_34510326del, NC_000011.10:g.34510326del, NC_000011.10:g.34510326dup, NC_000011.10:g.34510325_34510326dup, NC_000011.10:g.34510324_34510326dup, NC_000011.10:g.34510323_34510326dup, NC_000011.10:g.34510319_34510326dup, NC_000011.10:g.34510317_34510326dup, NC_000011.10:g.34510316_34510326dup, NC_000011.9:g.34531871_34531873del, NC_000011.9:g.34531872_34531873del, NC_000011.9:g.34531873del, NC_000011.9:g.34531873dup, NC_000011.9:g.34531872_34531873dup, NC_000011.9:g.34531871_34531873dup, NC_000011.9:g.34531870_34531873dup, NC_000011.9:g.34531866_34531873dup, NC_000011.9:g.34531864_34531873dup, NC_000011.9:g.34531863_34531873dup, NG_029477.2:g.8480_8482del, NG_029477.2:g.8481_8482del, NG_029477.2:g.8482del, NG_029477.2:g.8482dup, NG_029477.2:g.8481_8482dup, NG_029477.2:g.8480_8482dup, NG_029477.2:g.8479_8482dup, NG_029477.2:g.8475_8482dup, NG_029477.2:g.8473_8482dup, NG_029477.2:g.8472_8482dup, NG_029477.1:g.8487_8489del, NG_029477.1:g.8488_8489del, NG_029477.1:g.8489del, NG_029477.1:g.8489dup, NG_029477.1:g.8488_8489dup, NG_029477.1:g.8487_8489dup, NG_029477.1:g.8486_8489dup, NG_029477.1:g.8482_8489dup, NG_029477.1:g.8480_8489dup, NG_029477.1:g.8479_8489dup

Select item 14910544426.

rs1491054442 has merged into rs10647727 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 11:34512594 (GRCh38)
11:34534141 (GRCh37)
Canonical SPDI:: NC_000011.10:34512583:TTTTTTTTTTTTT:TTTTTTTTTT,NC_000011.10:34512583:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000011.10:34512583:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000011.10:34512583:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000011.10:34512583:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000011.10:34512583:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000011.10:34512583:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000011.10:34512583:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ELF5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.4944/2476 (1000Genomes)
HGVS:: NC_000011.10:g.34512594_34512596del, NC_000011.10:g.34512595_34512596del, NC_000011.10:g.34512596del, NC_000011.10:g.34512596dup, NC_000011.10:g.34512595_34512596dup, NC_000011.10:g.34512594_34512596dup, NC_000011.10:g.34512593_34512596dup, NC_000011.10:g.34512584_34512596dup, NC_000011.9:g.34534141_34534143del, NC_000011.9:g.34534142_34534143del, NC_000011.9:g.34534143del, NC_000011.9:g.34534143dup, NC_000011.9:g.34534142_34534143dup, NC_000011.9:g.34534141_34534143dup, NC_000011.9:g.34534140_34534143dup, NC_000011.9:g.34534131_34534143dup, NG_029477.2:g.6208_6210del, NG_029477.2:g.6209_6210del, NG_029477.2:g.6210del, NG_029477.2:g.6210dup, NG_029477.2:g.6209_6210dup, NG_029477.2:g.6208_6210dup, NG_029477.2:g.6207_6210dup, NG_029477.2:g.6198_6210dup, NG_029477.1:g.6215_6217del, NG_029477.1:g.6216_6217del, NG_029477.1:g.6217del, NG_029477.1:g.6217dup, NG_029477.1:g.6216_6217dup, NG_029477.1:g.6215_6217dup, NG_029477.1:g.6214_6217dup, NG_029477.1:g.6205_6217dup

Select item 14909374277.

rs1490937427 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:34507478 (GRCh38)
11:34529025 (GRCh37)
Canonical SPDI:: NC_000011.10:34507477:C:T
Gene:: ELF5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.34507478C>T, NC_000011.9:g.34529025C>T, NG_029477.2:g.11316G>A, NG_029477.1:g.11323G>A

Select item 14907560018.

rs1490756001 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 11:34503922 (GRCh38)
11:34525469 (GRCh37)
Canonical SPDI:: NC_000011.10:34503921:A:T
Gene:: ELF5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.34503922A>T, NC_000011.9:g.34525469A>T, NG_029477.2:g.14872T>A, NG_029477.1:g.14879T>A

Select item 14906616509.

rs1490661650 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:34498873 (GRCh38)
11:34520420 (GRCh37)
Canonical SPDI:: NC_000011.10:34498872:C:T
Gene:: ELF5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.34498873C>T, NC_000011.9:g.34520420C>T, NG_029477.2:g.19921G>A, NG_029477.1:g.19928G>A

Select item 149061226110.

rs1490612261 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:34484047 (GRCh38)
11:34505594 (GRCh37)
Canonical SPDI:: NC_000011.10:34484046:G:A,NC_000011.10:34484046:G:T
Gene:: ELF5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.34484047G>A, NC_000011.10:g.34484047G>T, NC_000011.9:g.34505594G>A, NC_000011.9:g.34505594G>T, NG_029477.2:g.34747C>T, NG_029477.2:g.34747C>A, NG_029477.1:g.34754C>T, NG_029477.1:g.34754C>A

Select item 149059853311.

rs1490598533 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:34482796 (GRCh38)
11:34504343 (GRCh37)
Canonical SPDI:: NC_000011.10:34482795:A:G
Gene:: ELF5 (Varview)
Functional Consequence:: 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_000011.10:g.34482796A>G, NC_000011.9:g.34504343A>G, NG_029477.2:g.35998T>C, NG_029477.1:g.36005T>C

Select item 149044655512.

rs1490446555 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:34506907 (GRCh38)
11:34528454 (GRCh37)
Canonical SPDI:: NC_000011.10:34506906:T:C
Gene:: ELF5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000011.10:g.34506907T>C, NC_000011.9:g.34528454T>C, NG_029477.2:g.11887A>G, NG_029477.1:g.11894A>G

Select item 149030887213.

rs1490308872 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:34498860 (GRCh38)
11:34520407 (GRCh37)
Canonical SPDI:: NC_000011.10:34498859:G:A
Gene:: ELF5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.34498860G>A, NC_000011.9:g.34520407G>A, NG_029477.2:g.19934C>T, NG_029477.1:g.19941C>T

Select item 149028764414.

rs1490287644 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:34482076 (GRCh38)
11:34503623 (GRCh37)
Canonical SPDI:: NC_000011.10:34482075:G:A
Gene:: ELF5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000019/5 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000011.10:g.34482076G>A, NC_000011.9:g.34503623G>A, NG_029477.2:g.36718C>T, NG_029477.1:g.36725C>T

Select item 149027360815.

rs1490273608 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:34483720 (GRCh38)
11:34505267 (GRCh37)
Canonical SPDI:: NC_000011.10:34483719:C:T
Gene:: ELF5 (Varview)
Functional Consequence:: intron_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_000011.10:g.34483720C>T, NC_000011.9:g.34505267C>T, NG_029477.2:g.35074G>A, NG_029477.1:g.35081G>A

Select item 149010243016.

rs1490102430 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:34506803 (GRCh38)
11:34528350 (GRCh37)
Canonical SPDI:: NC_000011.10:34506802:A:C
Gene:: ELF5 (Varview)
Functional Consequence:: intron_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_000011.10:g.34506803A>C, NC_000011.9:g.34528350A>C, NG_029477.2:g.11991T>G, NG_029477.1:g.11998T>G

Select item 149002940417.

rs1490029404 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 11:34490153 (GRCh38)
11:34511700 (GRCh37)
Canonical SPDI:: NC_000011.10:34490152:A:T
Gene:: ELF5 (Varview)
Functional Consequence:: intron_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_000011.10:g.34490153A>T, NC_000011.9:g.34511700A>T, NG_029477.2:g.28641T>A, NG_029477.1:g.28648T>A

Select item 148986236018.

rs1489862360 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 11:34497809 (GRCh38)
11:34519356 (GRCh37)
Canonical SPDI:: NC_000011.10:34497808:A:T
Gene:: ELF5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.34497809A>T, NC_000011.9:g.34519356A>T, NG_029477.2:g.20985T>A, NG_029477.1:g.20992T>A

Select item 148981825119.

rs1489818251 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:34498198 (GRCh38)
11:34519745 (GRCh37)
Canonical SPDI:: NC_000011.10:34498197:G:A,NC_000011.10:34498197:G:T
Gene:: ELF5 (Varview)
Functional Consequence:: intron_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_000011.10:g.34498198G>A, NC_000011.10:g.34498198G>T, NC_000011.9:g.34519745G>A, NC_000011.9:g.34519745G>T, NG_029477.2:g.20596C>T, NG_029477.2:g.20596C>A, NG_029477.1:g.20603C>T, NG_029477.1:g.20603C>A

Select item 148977412820.

rs1489774128 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:34483292 (GRCh38)
11:34504839 (GRCh37)
Canonical SPDI:: NC_000011.10:34483291:G:A,NC_000011.10:34483291:G:T
Gene:: ELF5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.34483292G>A, NC_000011.10:g.34483292G>T, NC_000011.9:g.34504839G>A, NC_000011.9:g.34504839G>T, NG_029477.2:g.35502C>T, NG_029477.2:g.35502C>A, NG_029477.1:g.35509C>T, NG_029477.1:g.35509C>A

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