SNP Links for Gene (Select 100129973) - SNP

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Select item 14915598281.

rs1491559828 has merged into rs5812588 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA [Show Flanks]
Chromosome:: 15:52193328 (GRCh38)
15:52485525 (GRCh37)
Canonical SPDI:: NC_000015.10:52193314:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000015.10:52193314:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000015.10:52193314:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000015.10:52193314:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000015.10:52193314:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000015.10:52193314:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000015.10:52193314:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000015.10:52193314:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000015.10:52193314:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:52193314:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:52193314:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:52193314:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: GNB5 (Varview), MYO5C (Varview), CERNA1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000015.10:g.52193328_52193335del, NC_000015.10:g.52193329_52193335del, NC_000015.10:g.52193330_52193335del, NC_000015.10:g.52193331_52193335del, NC_000015.10:g.52193332_52193335del, NC_000015.10:g.52193333_52193335del, NC_000015.10:g.52193334_52193335del, NC_000015.10:g.52193335del, NC_000015.10:g.52193335dup, NC_000015.10:g.52193334_52193335dup, NC_000015.10:g.52193333_52193335dup, NC_000015.10:g.52193332_52193335dup, NC_000015.9:g.52485525_52485532del, NC_000015.9:g.52485526_52485532del, NC_000015.9:g.52485527_52485532del, NC_000015.9:g.52485528_52485532del, NC_000015.9:g.52485529_52485532del, NC_000015.9:g.52485530_52485532del, NC_000015.9:g.52485531_52485532del, NC_000015.9:g.52485532del, NC_000015.9:g.52485532dup, NC_000015.9:g.52485531_52485532dup, NC_000015.9:g.52485530_52485532dup, NC_000015.9:g.52485529_52485532dup, NG_052868.1:g.3047_3054del, NG_052868.1:g.3048_3054del, NG_052868.1:g.3049_3054del, NG_052868.1:g.3050_3054del, NG_052868.1:g.3051_3054del, NG_052868.1:g.3052_3054del, NG_052868.1:g.3053_3054del, NG_052868.1:g.3054del, NG_052868.1:g.3054dup, NG_052868.1:g.3053_3054dup, NG_052868.1:g.3052_3054dup, NG_052868.1:g.3051_3054dup, NM_018728.4:c.*580_*587del, NM_018728.4:c.*581_*587del, NM_018728.4:c.*582_*587del, NM_018728.4:c.*583_*587del, NM_018728.4:c.*584_*587del, NM_018728.4:c.*585_*587del, NM_018728.4:c.*586_*587del, NM_018728.4:c.*587del, NM_018728.4:c.*587dup, NM_018728.4:c.*586_*587dup, NM_018728.4:c.*585_*587dup, NM_018728.4:c.*584_*587dup, NM_018728.3:c.*580_*587del, NM_018728.3:c.*581_*587del, NM_018728.3:c.*582_*587del, NM_018728.3:c.*583_*587del, NM_018728.3:c.*584_*587del, NM_018728.3:c.*585_*587del, NM_018728.3:c.*586_*587del, NM_018728.3:c.*587del, NM_018728.3:c.*587dup, NM_018728.3:c.*586_*587dup, NM_018728.3:c.*585_*587dup, NM_018728.3:c.*584_*587dup, XM_011521781.4:c.*580_*587del, XM_011521781.4:c.*581_*587del, XM_011521781.4:c.*582_*587del, XM_011521781.4:c.*583_*587del, XM_011521781.4:c.*584_*587del, XM_011521781.4:c.*585_*587del, XM_011521781.4:c.*586_*587del, XM_011521781.4:c.*587del, XM_011521781.4:c.*587dup, XM_011521781.4:c.*586_*587dup, XM_011521781.4:c.*585_*587dup, XM_011521781.4:c.*584_*587dup, XM_011521781.3:c.*580_*587del, XM_011521781.3:c.*581_*587del, XM_011521781.3:c.*582_*587del, XM_011521781.3:c.*583_*587del, XM_011521781.3:c.*584_*587del, XM_011521781.3:c.*585_*587del, XM_011521781.3:c.*586_*587del, XM_011521781.3:c.*587del, XM_011521781.3:c.*587dup, XM_011521781.3:c.*586_*587dup, XM_011521781.3:c.*585_*587dup, XM_011521781.3:c.*584_*587dup, XM_011521781.2:c.*580_*587del, XM_011521781.2:c.*581_*587del, XM_011521781.2:c.*582_*587del, XM_011521781.2:c.*583_*587del, XM_011521781.2:c.*584_*587del, XM_011521781.2:c.*585_*587del, XM_011521781.2:c.*586_*587del, XM_011521781.2:c.*587del, XM_011521781.2:c.*587dup, XM_011521781.2:c.*586_*587dup, XM_011521781.2:c.*585_*587dup, XM_011521781.2:c.*584_*587dup, XM_011521781.1:c.*580_*587del, XM_011521781.1:c.*581_*587del, XM_011521781.1:c.*582_*587del, XM_011521781.1:c.*583_*587del, XM_011521781.1:c.*584_*587del, XM_011521781.1:c.*585_*587del, XM_011521781.1:c.*586_*587del, XM_011521781.1:c.*587del, XM_011521781.1:c.*587dup, XM_011521781.1:c.*586_*587dup, XM_011521781.1:c.*585_*587dup, XM_011521781.1:c.*584_*587dup, XM_017022408.3:c.*580_*587del, XM_017022408.3:c.*581_*587del, XM_017022408.3:c.*582_*587del, XM_017022408.3:c.*583_*587del, XM_017022408.3:c.*584_*587del, XM_017022408.3:c.*585_*587del, XM_017022408.3:c.*586_*587del, XM_017022408.3:c.*587del, XM_017022408.3:c.*587dup, XM_017022408.3:c.*586_*587dup, XM_017022408.3:c.*585_*587dup, XM_017022408.3:c.*584_*587dup, XM_017022408.2:c.*580_*587del, XM_017022408.2:c.*581_*587del, XM_017022408.2:c.*582_*587del, XM_017022408.2:c.*583_*587del, XM_017022408.2:c.*584_*587del, XM_017022408.2:c.*585_*587del, XM_017022408.2:c.*586_*587del, XM_017022408.2:c.*587del, XM_017022408.2:c.*587dup, XM_017022408.2:c.*586_*587dup, XM_017022408.2:c.*585_*587dup, XM_017022408.2:c.*584_*587dup, XM_017022408.1:c.*580_*587del, XM_017022408.1:c.*581_*587del, XM_017022408.1:c.*582_*587del, XM_017022408.1:c.*583_*587del, XM_017022408.1:c.*584_*587del, XM_017022408.1:c.*585_*587del, XM_017022408.1:c.*586_*587del, XM_017022408.1:c.*587del, XM_017022408.1:c.*587dup, XM_017022408.1:c.*586_*587dup, XM_017022408.1:c.*585_*587dup, XM_017022408.1:c.*584_*587dup, XM_047432845.1:c.*580_*587del, XM_047432845.1:c.*581_*587del, XM_047432845.1:c.*582_*587del, XM_047432845.1:c.*583_*587del, XM_047432845.1:c.*584_*587del, XM_047432845.1:c.*585_*587del, XM_047432845.1:c.*586_*587del, XM_047432845.1:c.*587del, XM_047432845.1:c.*587dup, XM_047432845.1:c.*586_*587dup, XM_047432845.1:c.*585_*587dup, XM_047432845.1:c.*584_*587dup, XM_047432846.1:c.*580_*587del, XM_047432846.1:c.*581_*587del, XM_047432846.1:c.*582_*587del, XM_047432846.1:c.*583_*587del, XM_047432846.1:c.*584_*587del, XM_047432846.1:c.*585_*587del, XM_047432846.1:c.*586_*587del, XM_047432846.1:c.*587del, XM_047432846.1:c.*587dup, XM_047432846.1:c.*586_*587dup, XM_047432846.1:c.*585_*587dup, XM_047432846.1:c.*584_*587dup

Select item 14915224112.

rs1491522411 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 15:52185756 (GRCh38)
15:52477953 (GRCh37)
Canonical SPDI:: NC_000015.10:52185754:TAT:T
Gene:: GNB5 (Varview), CERNA1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000015.10:g.52185756_52185757del, NC_000015.9:g.52477953_52477954del, NG_052868.1:g.10613_10614del

Select item 14914284683.

rs1491428468 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 15:52193314 (GRCh38)
15:52485511 (GRCh37)
Canonical SPDI:: NC_000015.10:52193313:CA:
Gene:: GNB5 (Varview), MYO5C (Varview), CERNA1 (Varview)
Functional Consequence:: 2KB_upstream_variant,3_prime_UTR_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00472/56 (ALFA)
-=0.00184/52 (TOMMO)
HGVS:: NC_000015.10:g.52193314_52193315del, NC_000015.9:g.52485511_52485512del, NG_052868.1:g.3054_3055del, NM_018728.4:c.*587_*588del, NM_018728.3:c.*587_*588del, XM_011521781.4:c.*587_*588del, XM_011521781.3:c.*587_*588del, XM_011521781.2:c.*587_*588del, XM_011521781.1:c.*587_*588del, XM_017022408.3:c.*587_*588del, XM_017022408.2:c.*587_*588del, XM_017022408.1:c.*587_*588del, XM_047432845.1:c.*587_*588del, XM_047432846.1:c.*587_*588del

Select item 14909853234.

rs1490985323 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:52188924 (GRCh38)
15:52481121 (GRCh37)
Canonical SPDI:: NC_000015.10:52188923:A:G
Gene:: GNB5 (Varview), CERNA1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_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_000015.10:g.52188924A>G, NC_000015.9:g.52481121A>G, NG_052868.1:g.7445T>C

Select item 14907429965.

rs1490742996 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:52203492 (GRCh38)
15:52495689 (GRCh37)
Canonical SPDI:: NC_000015.10:52203491:T:C
Gene:: MYO5C (Varview), CERNA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000019/5 (TOPMED)
C=0.000064/9 (GnomAD)
HGVS:: NC_000015.10:g.52203492T>C, NC_000015.9:g.52495689T>C

Select item 14905857466.

rs1490585746 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 15:52181243 (GRCh38)
15:52473440 (GRCh37)
Canonical SPDI:: NC_000015.10:52181242:G:C,NC_000015.10:52181242:G:T
Gene:: GNB5 (Varview), CERNA1 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000015.10:g.52181243G>C, NC_000015.10:g.52181243G>T, NC_000015.9:g.52473440G>C, NC_000015.9:g.52473440G>T, NG_052868.1:g.15126C>G, NG_052868.1:g.15126C>A

Select item 14904696917.

rs1490469691 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 15:52189317 (GRCh38)
15:52481514 (GRCh37)
Canonical SPDI:: NC_000015.10:52189316:G:C
Gene:: GNB5 (Varview), CERNA1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.52189317G>C, NC_000015.9:g.52481514G>C, NG_052868.1:g.7052C>G

Select item 14901990978.

rs1490199097 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:52194800 (GRCh38)
15:52486997 (GRCh37)
Canonical SPDI:: NC_000015.10:52194799:A:G
Gene:: MYO5C (Varview), CERNA1 (Varview)
Functional Consequence:: intron_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_000015.10:g.52194800A>G, NC_000015.9:g.52486997A>G, NG_052868.1:g.1569T>C

Select item 14901496959.

rs1490149695 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:52191318 (GRCh38)
15:52483515 (GRCh37)
Canonical SPDI:: NC_000015.10:52191317:A:G
Gene:: GNB5 (Varview), CERNA1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000015.10:g.52191318A>G, NC_000015.9:g.52483515A>G, NG_052868.1:g.5051T>C

Select item 149014005810.

rs1490140058 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:52189642 (GRCh38)
15:52481839 (GRCh37)
Canonical SPDI:: NC_000015.10:52189641:A:G
Gene:: GNB5 (Varview), CERNA1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.52189642A>G, NC_000015.9:g.52481839A>G, NG_052868.1:g.6727T>C

Select item 149008376411.

rs1490083764 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:52187383 (GRCh38)
15:52479580 (GRCh37)
Canonical SPDI:: NC_000015.10:52187382:G:A
Gene:: GNB5 (Varview), CERNA1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.52187383G>A, NC_000015.9:g.52479580G>A, NG_052868.1:g.8986C>T

Select item 148998713212.

rs1489987132 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATATAAAAAGACATTATTATGTA [Show Flanks]
Chromosome:: 15:52192416 (GRCh38)
15:52484614 (GRCh37)
Canonical SPDI:: NC_000015.10:52192416:TAATATAAAAAGACATTATTATGTA:TAATATAAAAAGACATTATTATGTAATATAAAAAGACATTATTATGTA
Gene:: GNB5 (Varview), MYO5C (Varview), CERNA1 (Varview)
Functional Consequence:: 2KB_upstream_variant,3_prime_UTR_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TAATATAAAAAGACATTATTATGTAATATAAAAAGACATTATTATGTA=0.000198/3 (ALFA)
TAATATAAAAAGACATTATTATG=0.000004/1 (TOPMED)
TAATATAAAAAGACATTATTATG=0.000029/4 (GnomAD)
TAATATAAAAAGACATTATTATG=0.00067/3 (Estonian)
HGVS:: NC_000015.10:g.52192419_52192441dup, NC_000015.9:g.52484616_52484638dup, NG_052868.1:g.3930_3952dup, NM_018728.4:c.*1463_*1485dup, NM_018728.3:c.*1463_*1485dup, XM_011521781.4:c.*1463_*1485dup, XM_011521781.3:c.*1463_*1485dup, XM_017022408.3:c.*1463_*1485dup, XM_017022408.2:c.*1463_*1485dup, XM_047432845.1:c.*1463_*1485dup, XM_047432846.1:c.*1463_*1485dup

Select item 148997562413.

rs1489975624 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 15:52190496 (GRCh38)
15:52482693 (GRCh37)
Canonical SPDI:: NC_000015.10:52190492:ATATA:ATA
Gene:: GNB5 (Varview), CERNA1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATA=0./0 (ALFA)
-=0.000023/6 (TOPMED)
-=0.000029/4 (GnomAD)
HGVS:: NC_000015.10:g.52190494TA[1], NC_000015.9:g.52482691TA[1], NG_052868.1:g.5873AT[1]

Select item 148974197814.

rs1489741978 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 15:52180702 (GRCh38)
15:52472899 (GRCh37)
Canonical SPDI:: NC_000015.10:52180701:C:G,NC_000015.10:52180701:C:T
Gene:: GNB5 (Varview), CERNA1 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000015.10:g.52180702C>G, NC_000015.10:g.52180702C>T, NC_000015.9:g.52472899C>G, NC_000015.9:g.52472899C>T, NG_052868.1:g.15667G>C, NG_052868.1:g.15667G>A

Select item 148947609615.

rs1489476096 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:52198772 (GRCh38)
15:52490969 (GRCh37)
Canonical SPDI:: NC_000015.10:52198771:G:A
Gene:: MYO5C (Varview), CERNA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000015.10:g.52198772G>A, NC_000015.9:g.52490969G>A

Select item 148929649116.

rs1489296491 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:52183275 (GRCh38)
15:52475472 (GRCh37)
Canonical SPDI:: NC_000015.10:52183274:C:T
Gene:: GNB5 (Varview), CERNA1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000022/3 (GnomAD)
HGVS:: NC_000015.10:g.52183275C>T, NC_000015.9:g.52475472C>T, NG_052868.1:g.13094G>A

Select item 148920041617.

rs1489200416 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:52195554 (GRCh38)
15:52487751 (GRCh37)
Canonical SPDI:: NC_000015.10:52195553:G:A
Gene:: MYO5C (Varview), CERNA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000015.10:g.52195554G>A, NC_000015.9:g.52487751G>A, NG_052868.1:g.815C>T

Select item 148900889718.

rs1489008897 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:52184363 (GRCh38)
15:52476560 (GRCh37)
Canonical SPDI:: NC_000015.10:52184362:G:A
Gene:: GNB5 (Varview), CERNA1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000068/18 (TOPMED)
A=0.000071/10 (GnomAD)
HGVS:: NC_000015.10:g.52184363G>A, NC_000015.9:g.52476560G>A, NG_052868.1:g.12006C>T

Select item 148871298119.

rs1488712981 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 15:52206159 (GRCh38)
15:52498356 (GRCh37)
Canonical SPDI:: NC_000015.10:52206158:C:A,NC_000015.10:52206158:C:T
Gene:: MYO5C (Varview), CERNA1 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.52206159C>A, NC_000015.10:g.52206159C>T, NC_000015.9:g.52498356C>A, NC_000015.9:g.52498356C>T

Select item 148855971520.

rs1488559715 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 15:52187326 (GRCh38)
15:52479523 (GRCh37)
Canonical SPDI:: NC_000015.10:52187325:G:C
Gene:: GNB5 (Varview), CERNA1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_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_000015.10:g.52187326G>C, NC_000015.9:g.52479523G>C, NG_052868.1:g.9043C>G

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