SNP Links for Gene (Select 101927417) - SNP

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Select item 14914730341.

rs1491473034 has merged into rs1306987521 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACA>-,CA [Show Flanks]
Chromosome:: 1:15329720 (GRCh38)
1:15656216 (GRCh37)
Canonical SPDI:: NC_000001.11:15329714:ACACACACA:ACACA,NC_000001.11:15329714:ACACACACA:ACACACA
Gene:: FHAD1 (Varview), FHAD1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACA=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.15329716CA[2], NC_000001.11:g.15329716CA[3], NC_000001.10:g.15656212CA[2], NC_000001.10:g.15656212CA[3]

Select item 14913767852.

rs1491376785 [Homo sapiens]

Variant type:: INS
Alleles:: ->AG [Show Flanks]
Chromosome:: 1:15329715 (GRCh38)
1:15656212 (GRCh37)
Canonical SPDI:: NC_000001.11:15329715::AG
Gene:: FHAD1 (Varview), FHAD1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AG=0./0 (ALFA)
AG=0.000029/4 (GnomAD)
HGVS:: NC_000001.11:g.15329715_15329716insAG, NC_000001.10:g.15656211_15656212insAG

Select item 14910199973.

rs1491019997 [Homo sapiens]

Variant type:: DEL
Alleles:: TC>- [Show Flanks]
Chromosome:: 1:15328255 (GRCh38)
1:15654751 (GRCh37)
Canonical SPDI:: NC_000001.11:15328254:TC:
Gene:: FHAD1 (Varview), FHAD1-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
HGVS:: NC_000001.11:g.15328255_15328256del, NC_000001.10:g.15654751_15654752del, NR_148918.1:n.1536_1537del, NR_148919.1:n.1533_1534del

Select item 14907993444.

rs1490799344 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 1:15331848 (GRCh38)
1:15658344 (GRCh37)
Canonical SPDI:: NC_000001.11:15331847:T:A,NC_000001.11:15331847:T:C
Gene:: FHAD1 (Varview), FHAD1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.15331848T>A, NC_000001.11:g.15331848T>C, NC_000001.10:g.15658344T>A, NC_000001.10:g.15658344T>C

Select item 14907933475.

rs1490793347 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:15331367 (GRCh38)
1:15657863 (GRCh37)
Canonical SPDI:: NC_000001.11:15331366:G:T
Gene:: FHAD1 (Varview), FHAD1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000026/7 (TOPMED)
HGVS:: NC_000001.11:g.15331367G>T, NC_000001.10:g.15657863G>T

Select item 14904442526.

rs1490444252 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:15340299 (GRCh38)
1:15666795 (GRCh37)
Canonical SPDI:: NC_000001.11:15340298:A:G
Gene:: FHAD1 (Varview), FHAD1-AS1 (Varview), LOC124903851 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.15340299A>G, NC_000001.10:g.15666795A>G

Select item 14904026427.

rs1490402642 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 1:15330649 (GRCh38)
1:15657145 (GRCh37)
Canonical SPDI:: NC_000001.11:15330648:A:G,NC_000001.11:15330648:A:T
Gene:: FHAD1 (Varview), FHAD1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
G=0.000142/2 (TOMMO)
HGVS:: NC_000001.11:g.15330649A>G, NC_000001.11:g.15330649A>T, NC_000001.10:g.15657145A>G, NC_000001.10:g.15657145A>T

Select item 14903127688.

rs1490312768 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:15343274 (GRCh38)
1:15669770 (GRCh37)
Canonical SPDI:: NC_000001.11:15343273:G:A
Gene:: FHAD1 (Varview), FHAD1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.15343274G>A, NC_000001.10:g.15669770G>A

Select item 14902004249.

rs1490200424 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:15345588 (GRCh38)
1:15672084 (GRCh37)
Canonical SPDI:: NC_000001.11:15345587:C:G
Gene:: FHAD1 (Varview), FHAD1-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000079/21 (TOPMED)
HGVS:: NC_000001.11:g.15345588C>G, NC_000001.10:g.15672084C>G

Select item 149018025310.

rs1490180253 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:15338260 (GRCh38)
1:15664756 (GRCh37)
Canonical SPDI:: NC_000001.11:15338259:G:A
Gene:: FHAD1 (Varview), FHAD1-AS1 (Varview), LOC124903851 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000038/10 (TOPMED)
A=0.000342/1 (KOREAN)
A=0.000602/10 (TOMMO)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000001.11:g.15338260G>A, NC_000001.10:g.15664756G>A, XR_007065480.1:n.909C>T

Select item 149009392311.

rs1490093923 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:15326381 (GRCh38)
1:15652877 (GRCh37)
Canonical SPDI:: NC_000001.11:15326380:G:A
Gene:: FHAD1 (Varview), FHAD1-AS1 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000026/7 (TOPMED)
A=0.000036/5 (GnomAD)
HGVS:: NC_000001.11:g.15326381G>A, NC_000001.10:g.15652877G>A

Select item 148955521112.

rs1489555211 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:15340894 (GRCh38)
1:15667390 (GRCh37)
Canonical SPDI:: NC_000001.11:15340893:T:C
Gene:: FHAD1 (Varview), FHAD1-AS1 (Varview), LOC124903851 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.15340894T>C, NC_000001.10:g.15667390T>C, XR_007065480.1:n.33A>G

Select item 148945660913.

rs1489456609 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 1:15328978 (GRCh38)
1:15655474 (GRCh37)
Canonical SPDI:: NC_000001.11:15328977:A:G,NC_000001.11:15328977:A:T
Gene:: FHAD1 (Varview), FHAD1-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
G=0.000425/7 (TOMMO)
HGVS:: NC_000001.11:g.15328978A>G, NC_000001.11:g.15328978A>T, NC_000001.10:g.15655474A>G, NC_000001.10:g.15655474A>T, NR_148918.1:n.814T>C, NR_148918.1:n.814T>A, NR_148919.1:n.811T>C, NR_148919.1:n.811T>A

Select item 148940748214.

rs1489407482 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:15344690 (GRCh38)
1:15671186 (GRCh37)
Canonical SPDI:: NC_000001.11:15344689:T:C
Gene:: FHAD1 (Varview), FHAD1-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.15344690T>C, NC_000001.10:g.15671186T>C

Select item 148939829315.

rs1489398293 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:15329408 (GRCh38)
1:15655904 (GRCh37)
Canonical SPDI:: NC_000001.11:15329407:C:T
Gene:: FHAD1 (Varview), FHAD1-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,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_000001.11:g.15329408C>T, NC_000001.10:g.15655904C>T, XM_011540584.4:c.1824C>T, XM_011540584.3:c.1824C>T, XM_011540584.2:c.1824C>T, XM_011540584.1:c.1824C>T, XM_011540588.4:c.1824C>T, XM_011540588.3:c.1824C>T, XM_011540588.2:c.1824C>T, XM_011540588.1:c.1824C>T, XM_011540581.4:c.1824C>T, XM_011540581.3:c.1824C>T, XM_011540581.2:c.1824C>T, XM_011540581.1:c.1824C>T, XM_011540582.4:c.1824C>T, XM_011540582.3:c.1824C>T, XM_011540582.2:c.1824C>T, XM_011540582.1:c.1824C>T, XM_011540597.4:c.1824C>T, XM_011540597.3:c.1824C>T, XM_011540597.2:c.1824C>T, XM_011540597.1:c.1824C>T, XM_011540598.4:c.1824C>T, XM_011540598.3:c.1824C>T, XM_011540598.2:c.1824C>T, XM_011540598.1:c.1824C>T, XM_017000211.3:c.1824C>T, XM_017000211.2:c.1824C>T, XM_017000211.1:c.1824C>T, XM_017000198.3:c.1824C>T, XM_017000198.2:c.1824C>T, XM_017000198.1:c.1824C>T, XM_011540576.3:c.1824C>T, XM_011540576.2:c.1824C>T, XM_011540576.1:c.1824C>T, XM_011540577.3:c.1773C>T, XM_011540577.2:c.1773C>T, XM_011540577.1:c.1773C>T, XM_017000199.3:c.1824C>T, XM_017000199.2:c.1824C>T, XM_017000199.1:c.1824C>T, XM_017000203.3:c.1824C>T, XM_017000203.2:c.1824C>T, XM_017000203.1:c.1824C>T, XM_017000206.3:c.1824C>T, XM_017000206.2:c.1824C>T, XM_017000206.1:c.1824C>T, XM_017000207.3:c.1587C>T, XM_017000207.2:c.1587C>T, XM_017000207.1:c.1587C>T, XM_017000210.3:c.1824C>T, XM_017000210.2:c.1824C>T, XM_017000210.1:c.1824C>T, XM_017000212.3:c.1824C>T, XM_017000212.2:c.1824C>T, XM_017000212.1:c.1824C>T, XM_011540596.3:c.501C>T, XM_011540596.2:c.756C>T, XM_011540596.1:c.756C>T, XM_017000214.3:c.1824C>T, XM_017000214.2:c.1824C>T, XM_017000214.1:c.1824C>T, XM_024452903.2:c.1824C>T, XM_024452903.1:c.1824C>T, XM_024452912.2:c.1824C>T, XM_024452912.1:c.1824C>T, XM_024452887.2:c.1824C>T, XM_024452887.1:c.1824C>T, NM_052929.2:c.1773C>T, NM_052929.1:c.1773C>T, XM_017000200.2:c.1824C>T, XM_017000200.1:c.1824C>T, XM_017000201.2:c.1824C>T, XM_017000201.1:c.1824C>T, XM_017000202.2:c.1716C>T, XM_017000202.1:c.1716C>T, XM_017000205.2:c.1629C>T, XM_017000205.1:c.1629C>T, XM_024452898.2:c.1566C>T, XM_024452898.1:c.1566C>T, XM_024452918.2:c.1824C>T, XM_024452918.1:c.1824C>T, XM_011540592.2:c.1485C>T, XM_011540592.1:c.1485C>T, XM_011540595.2:c.1191C>T, XM_011540595.1:c.1191C>T, XM_017000213.2:c.1824C>T, XM_017000213.1:c.1824C>T, XM_047443734.1:c.1824C>T, XM_047443798.1:c.1824C>T, XM_047443776.1:c.1824C>T, NM_001391921.1:c.1824C>T, NM_001387888.1:c.*1849C>T, NM_001391957.1:c.1773C>T, XM_047443743.1:c.1824C>T, XM_047443774.1:c.1824C>T, XM_047443790.1:c.1824C>T, XM_047443801.1:c.1716C>T, XM_047443737.1:c.1665C>T, XM_047443846.1:c.1566C>T, XM_047443835.1:c.891C>T, NR_148918.1:n.384G>A, NR_148919.1:n.381G>A, XM_047443847.1:c.1773C>T

Select item 148899286716.

rs1488992867 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:15336983 (GRCh38)
1:15663479 (GRCh37)
Canonical SPDI:: NC_000001.11:15336982:A:G
Gene:: FHAD1 (Varview), FHAD1-AS1 (Varview), LOC124903851 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.15336983A>G, NC_000001.10:g.15663479A>G, XR_007065480.1:n.2186T>C

Select item 148890866917.

rs1488908669 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:15334733 (GRCh38)
1:15661229 (GRCh37)
Canonical SPDI:: NC_000001.11:15334732:C:A
Gene:: FHAD1 (Varview), FHAD1-AS1 (Varview), LOC124903851 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.15334733C>A, NC_000001.10:g.15661229C>A, XR_007065480.1:n.4436G>T

Select item 148855008618.

rs1488550086 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCTTT>- [Show Flanks]
Chromosome:: 1:15328256 (GRCh38)
1:15654752 (GRCh37)
Canonical SPDI:: NC_000001.11:15328252:TTTCCTTT:TTT
Gene:: FHAD1 (Varview), FHAD1-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by cluster
HGVS:: NC_000001.11:g.15328256_15328260del, NC_000001.10:g.15654752_15654756del, NR_148918.1:n.1535_1539del, NR_148919.1:n.1532_1536del

Select item 148852375219.

rs1488523752 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 1:15330490 (GRCh38)
1:15656987 (GRCh37)
Canonical SPDI:: NC_000001.11:15330490::C
Gene:: FHAD1 (Varview), FHAD1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.15330490_15330491insC, NC_000001.10:g.15656986_15656987insC

Select item 148842876620.

rs1488428766 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:15345174 (GRCh38)
1:15671670 (GRCh37)
Canonical SPDI:: NC_000001.11:15345173:T:G
Gene:: FHAD1 (Varview), FHAD1-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,synonymous_variant,2KB_upstream_variant,missense_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_000001.11:g.15345174T>G, NC_000001.10:g.15671670T>G, XM_011540584.4:c.2273T>G, XM_011540584.3:c.2273T>G, XM_011540584.2:c.2273T>G, XM_011540584.1:c.2273T>G, XM_011540588.4:c.2273T>G, XM_011540588.3:c.2273T>G, XM_011540588.2:c.2273T>G, XM_011540588.1:c.2273T>G, XM_011540581.4:c.2273T>G, XM_011540581.3:c.2273T>G, XM_011540581.2:c.2273T>G, XM_011540581.1:c.2273T>G, XM_011540582.4:c.2273T>G, XM_011540582.3:c.2273T>G, XM_011540582.2:c.2273T>G, XM_011540582.1:c.2273T>G, XM_011540597.4:c.2273T>G, XM_011540597.3:c.2273T>G, XM_011540597.2:c.2273T>G, XM_011540597.1:c.2273T>G, XM_011540598.4:c.2202T>G, XM_011540598.3:c.2202T>G, XM_011540598.2:c.2202T>G, XM_011540598.1:c.2202T>G, XM_017000211.3:c.2273T>G, XM_017000211.2:c.2273T>G, XM_017000211.1:c.2273T>G, XM_017000198.3:c.2273T>G, XM_017000198.2:c.2273T>G, XM_017000198.1:c.2273T>G, XM_011540576.3:c.2273T>G, XM_011540576.2:c.2273T>G, XM_011540576.1:c.2273T>G, XM_011540577.3:c.2222T>G, XM_011540577.2:c.2222T>G, XM_011540577.1:c.2222T>G, XM_017000199.3:c.2273T>G, XM_017000199.2:c.2273T>G, XM_017000199.1:c.2273T>G, XM_017000203.3:c.2273T>G, XM_017000203.2:c.2273T>G, XM_017000203.1:c.2273T>G, XM_017000206.3:c.2273T>G, XM_017000206.2:c.2273T>G, XM_017000206.1:c.2273T>G, XM_017000207.3:c.2036T>G, XM_017000207.2:c.2036T>G, XM_017000207.1:c.2036T>G, XM_017000210.3:c.2273T>G, XM_017000210.2:c.2273T>G, XM_017000210.1:c.2273T>G, XM_017000212.3:c.2273T>G, XM_017000212.2:c.2273T>G, XM_017000212.1:c.2273T>G, XM_011540596.3:c.950T>G, XM_011540596.2:c.1205T>G, XM_011540596.1:c.1205T>G, XM_017000214.3:c.2273T>G, XM_017000214.2:c.2273T>G, XM_017000214.1:c.2273T>G, XM_024452903.2:c.2273T>G, XM_024452903.1:c.2273T>G, XM_024452912.2:c.2273T>G, XM_024452912.1:c.2273T>G, XM_024452887.2:c.2273T>G, XM_024452887.1:c.2273T>G, NM_052929.2:c.2156T>G, NM_052929.1:c.2156T>G, XM_017000200.2:c.2273T>G, XM_017000200.1:c.2273T>G, XM_017000201.2:c.2273T>G, XM_017000201.1:c.2273T>G, XM_017000202.2:c.2165T>G, XM_017000202.1:c.2165T>G, XM_017000205.2:c.2078T>G, XM_017000205.1:c.2078T>G, XM_024452898.2:c.2015T>G, XM_024452898.1:c.2015T>G, XM_024452918.2:c.2207T>G, XM_024452918.1:c.2207T>G, XM_011540592.2:c.1934T>G, XM_011540592.1:c.1934T>G, XM_011540595.2:c.1640T>G, XM_011540595.1:c.1640T>G, XM_017000213.2:c.2273T>G, XM_017000213.1:c.2273T>G, XM_047443734.1:c.2273T>G, XM_047443798.1:c.2273T>G, XM_047443776.1:c.2273T>G, NM_001391921.1:c.2273T>G, NM_001387888.1:c.*2298T>G, NM_001391957.1:c.2222T>G, XM_047443743.1:c.2273T>G, XM_047443774.1:c.2273T>G, XM_047443790.1:c.2273T>G, XM_047443801.1:c.2165T>G, XM_047443737.1:c.2114T>G, XM_047443846.1:c.2015T>G, XM_047443835.1:c.1340T>G, XM_047443847.1:c.2151T>G, XP_011538886.1:p.Leu758Arg, XP_011538890.1:p.Leu758Arg, XP_011538883.1:p.Leu758Arg, XP_011538884.1:p.Leu758Arg, XP_011538899.1:p.Leu758Arg, XP_016855700.1:p.Leu758Arg, XP_016855687.1:p.Leu758Arg, XP_011538878.1:p.Leu758Arg, XP_011538879.1:p.Leu741Arg, XP_016855688.1:p.Leu758Arg, XP_016855692.1:p.Leu758Arg, XP_016855695.1:p.Leu758Arg, XP_016855696.1:p.Leu679Arg, XP_016855699.1:p.Leu758Arg, XP_016855701.1:p.Leu758Arg, XP_011538898.2:p.Leu317Arg, XP_016855703.1:p.Leu758Arg, XP_024308671.1:p.Leu758Arg, XP_024308680.1:p.Leu758Arg, XP_024308655.1:p.Leu758Arg, NP_443161.1:p.Leu719Arg, XP_016855689.1:p.Leu758Arg, XP_016855690.1:p.Leu758Arg, XP_016855691.1:p.Leu722Arg, XP_016855694.1:p.Leu693Arg, XP_024308666.1:p.Leu672Arg, XP_024308686.1:p.Leu736Arg, XP_011538894.1:p.Leu645Arg, XP_011538897.1:p.Leu547Arg, XP_016855702.1:p.Leu758Arg, XP_047299690.1:p.Leu758Arg, XP_047299754.1:p.Leu758Arg, XP_047299732.1:p.Leu758Arg, NP_001378886.1:p.Leu741Arg, XP_047299699.1:p.Leu758Arg, XP_047299730.1:p.Leu758Arg, XP_047299746.1:p.Leu758Arg, XP_047299757.1:p.Leu722Arg, XP_047299693.1:p.Leu705Arg, XP_047299802.1:p.Leu672Arg, XP_047299791.1:p.Leu447Arg

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