SNP Links for Gene (Select 51715) - SNP

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Select item 14915893111.

rs1491589311 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 6:57200558 (GRCh38)
6:57065357 (GRCh37)
Canonical SPDI:: NC_000006.12:57200558:G:GG
Gene:: RAB23 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.57200559dup, NC_000006.11:g.57065357dup, NG_012170.1:g.26722dup

Select item 14915618202.

rs1491561820 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 6:57189172 (GRCh38)
6:57053970 (GRCh37)
Canonical SPDI:: NC_000006.12:57189171:AT:
Gene:: BAG2 (Varview), RAB23 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.57189172_57189173del, NC_000006.11:g.57053970_57053971del, NG_012170.1:g.38108_38109del, NM_016277.5:c.*1288_*1289del, NM_016277.4:c.*1288_*1289del, NM_183227.3:c.*1288_*1289del, NM_183227.2:c.*1288_*1289del, NM_001278667.2:c.*1288_*1289del, NM_001278667.1:c.*1288_*1289del, NM_001278668.2:c.*1288_*1289del, NM_001278668.1:c.*1288_*1289del, NM_001278666.2:c.*1288_*1289del, NM_001278666.1:c.*1288_*1289del, NR_103822.2:n.1854_1855del, NR_103822.1:n.1861_1862del, XM_005249490.5:c.*4982_*4983del, XM_011514999.4:c.*4982_*4983del, NM_004282.4:c.*4982_*4983del

Select item 14914742573.

rs1491474257 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTA [Show Flanks]
Chromosome:: 6:57188409 (GRCh38)
6:57053208 (GRCh37)
Canonical SPDI:: NC_000006.12:57188409:ACTA:ACTACTA
Gene:: BAG2 (Varview), RAB23 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACTACTA=0./0 (ALFA)
ACT=0.000007/1 (GnomAD)
ACT=0.000023/6 (TOPMED)
HGVS:: NC_000006.12:g.57188411_57188413dup, NC_000006.11:g.57053209_57053211dup, NG_012170.1:g.38869_38871dup, NM_016277.5:c.*2049_*2051dup, NM_016277.4:c.*2049_*2051dup, NM_183227.3:c.*2049_*2051dup, NM_183227.2:c.*2049_*2051dup, NM_001278667.2:c.*2049_*2051dup, NM_001278667.1:c.*2049_*2051dup, NM_001278668.2:c.*2049_*2051dup, NM_001278668.1:c.*2049_*2051dup, NM_001278666.2:c.*2049_*2051dup, NM_001278666.1:c.*2049_*2051dup, NR_103822.2:n.2615_2617dup, NR_103822.1:n.2622_2624dup, XM_005249490.5:c.*4221_*4223dup, XM_011514999.4:c.*4221_*4223dup, NM_004282.4:c.*4221_*4223dup

Select item 14913338654.

rs1491333865 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 6:57200559 (GRCh38)
6:57065357 (GRCh37)
Canonical SPDI:: NC_000006.12:57200557:AGA:A
Gene:: RAB23 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000006.12:g.57200559_57200560del, NC_000006.11:g.57065357_57065358del, NG_012170.1:g.26722_26723del

Select item 14912436425.

rs1491243642 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 6:57188680 (GRCh38)
6:57053478 (GRCh37)
Canonical SPDI:: NC_000006.12:57188678:TAT:T
Gene:: BAG2 (Varview), RAB23 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000023/6 (TOPMED)
-=0.000029/4 (GnomAD)
HGVS:: NC_000006.12:g.57188680_57188681del, NC_000006.11:g.57053478_57053479del, NG_012170.1:g.38601_38602del, NM_016277.5:c.*1781_*1782del, NM_016277.4:c.*1781_*1782del, NM_183227.3:c.*1781_*1782del, NM_183227.2:c.*1781_*1782del, NM_001278667.2:c.*1781_*1782del, NM_001278667.1:c.*1781_*1782del, NM_001278668.2:c.*1781_*1782del, NM_001278668.1:c.*1781_*1782del, NM_001278666.2:c.*1781_*1782del, NM_001278666.1:c.*1781_*1782del, NR_103822.2:n.2347_2348del, NR_103822.1:n.2354_2355del, XM_005249490.5:c.*4490_*4491del, XM_011514999.4:c.*4490_*4491del, NM_004282.4:c.*4490_*4491del

Select item 14912426056.

rs1491242605 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GATT [Show Flanks]
Chromosome:: 6:57189172 (GRCh38)
6:57053971 (GRCh37)
Canonical SPDI:: NC_000006.12:57189172:TGATT:TGATTGATT
Gene:: BAG2 (Varview), RAB23 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: TGATTGATT=0./0 (ALFA)
TGAT=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.57189174_57189177dup, NC_000006.11:g.57053972_57053975dup, NG_012170.1:g.38105_38108dup, NM_016277.5:c.*1285_*1288dup, NM_016277.4:c.*1285_*1288dup, NM_183227.3:c.*1285_*1288dup, NM_183227.2:c.*1285_*1288dup, NM_001278667.2:c.*1285_*1288dup, NM_001278667.1:c.*1285_*1288dup, NM_001278668.2:c.*1285_*1288dup, NM_001278668.1:c.*1285_*1288dup, NM_001278666.2:c.*1285_*1288dup, NM_001278666.1:c.*1285_*1288dup, NR_103822.2:n.1851_1854dup, NR_103822.1:n.1858_1861dup, XM_005249490.5:c.*4984_*4987dup, XM_011514999.4:c.*4984_*4987dup, NM_004282.4:c.*4984_*4987dup

Select item 14911679457.

rs1491167945 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 6:57188409 (GRCh38)
6:57053207 (GRCh37)
Canonical SPDI:: NC_000006.12:57188408:AA:
Gene:: BAG2 (Varview), RAB23 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000015/4 (TOPMED)
HGVS:: NC_000006.12:g.57188409_57188410del, NC_000006.11:g.57053207_57053208del, NG_012170.1:g.38871_38872del, NM_016277.5:c.*2051_*2052del, NM_016277.4:c.*2051_*2052del, NM_183227.3:c.*2051_*2052del, NM_183227.2:c.*2051_*2052del, NM_001278667.2:c.*2051_*2052del, NM_001278667.1:c.*2051_*2052del, NM_001278668.2:c.*2051_*2052del, NM_001278668.1:c.*2051_*2052del, NM_001278666.2:c.*2051_*2052del, NM_001278666.1:c.*2051_*2052del, NR_103822.2:n.2617_2618del, NR_103822.1:n.2624_2625del, XM_005249490.5:c.*4219_*4220del, XM_011514999.4:c.*4219_*4220del, NM_004282.4:c.*4219_*4220del

Select item 14911292198.

rs1491129219 [Homo sapiens]

Variant type:: DELINS
Alleles:: TG>- [Show Flanks]
Chromosome:: 6:57189274 (GRCh38)
6:57054072 (GRCh37)
Canonical SPDI:: NC_000006.12:57189272:GTG:G
Gene:: BAG2 (Varview), RAB23 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: -=0./0 (TWINSUK)
-=0.0003/1 (ALSPAC)
HGVS:: NC_000006.12:g.57189274_57189275del, NC_000006.11:g.57054072_57054073del, NG_012170.1:g.38007_38008del, NM_016277.5:c.*1187_*1188del, NM_016277.4:c.*1187_*1188del, NM_183227.3:c.*1187_*1188del, NM_183227.2:c.*1187_*1188del, NM_001278667.2:c.*1187_*1188del, NM_001278667.1:c.*1187_*1188del, NM_001278668.2:c.*1187_*1188del, NM_001278668.1:c.*1187_*1188del, NM_001278666.2:c.*1187_*1188del, NM_001278666.1:c.*1187_*1188del, NR_103822.2:n.1753_1754del, NR_103822.1:n.1760_1761del, XM_005249490.5:c.*5084_*5085del, XM_011514999.4:c.*5084_*5085del, NM_004282.4:c.*5084_*5085del

Select item 14911044869.

rs1491104486 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATCA,TCA [Show Flanks]
Chromosome:: 6:57188679 (GRCh38)
6:57053478 (GRCh37)
Canonical SPDI:: NC_000006.12:57188679:ATCA:ATCAATCA,NC_000006.12:57188679:ATCA:ATCATCA
Gene:: BAG2 (Varview), RAB23 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATCATCA=0./0 (ALFA)
ATCA=0.000021/3 (GnomAD)
ATCA=0.000035/1 (TOMMO)
ATCA=0.000038/10 (TOPMED)
HGVS:: NC_000006.12:g.57188680_57188683dup, NC_000006.12:g.57188681_57188683dup, NC_000006.11:g.57053478_57053481dup, NC_000006.11:g.57053479_57053481dup, NG_012170.1:g.38598_38601dup, NG_012170.1:g.38599_38601dup, NM_016277.5:c.*1778_*1781dup, NM_016277.5:c.*1779_*1781dup, NM_016277.4:c.*1778_*1781dup, NM_016277.4:c.*1779_*1781dup, NM_183227.3:c.*1778_*1781dup, NM_183227.3:c.*1779_*1781dup, NM_183227.2:c.*1778_*1781dup, NM_183227.2:c.*1779_*1781dup, NM_001278667.2:c.*1778_*1781dup, NM_001278667.2:c.*1779_*1781dup, NM_001278667.1:c.*1778_*1781dup, NM_001278667.1:c.*1779_*1781dup, NM_001278668.2:c.*1778_*1781dup, NM_001278668.2:c.*1779_*1781dup, NM_001278668.1:c.*1778_*1781dup, NM_001278668.1:c.*1779_*1781dup, NM_001278666.2:c.*1778_*1781dup, NM_001278666.2:c.*1779_*1781dup, NM_001278666.1:c.*1778_*1781dup, NM_001278666.1:c.*1779_*1781dup, NR_103822.2:n.2344_2347dup, NR_103822.2:n.2345_2347dup, NR_103822.1:n.2351_2354dup, NR_103822.1:n.2352_2354dup, XM_005249490.5:c.*4490_*4493dup, XM_005249490.5:c.*4491_*4493dup, XM_011514999.4:c.*4490_*4493dup, XM_011514999.4:c.*4491_*4493dup, NM_004282.4:c.*4490_*4493dup, NM_004282.4:c.*4491_*4493dup

Select item 149106698310.

rs1491066983 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATTAGCATA [Show Flanks]
Chromosome:: 6:57216893 (GRCh38)
6:57081692 (GRCh37)
Canonical SPDI:: NC_000006.12:57216893:ATAATTAGCATA:ATAATTAGCATAATTAGCATA
Gene:: RAB23 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ATAATTAGCATAATTAGCATA=0./0 (ALFA)
ATAATTAGC=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.57216897_57216905dup, NC_000006.11:g.57081695_57081703dup, NG_012170.1:g.10379_10387dup

Select item 149097894711.

rs1490978947 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:57197294 (GRCh38)
6:57062092 (GRCh37)
Canonical SPDI:: NC_000006.12:57197293:T:C
Gene:: RAB23 (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_000006.12:g.57197294T>C, NC_000006.11:g.57062092T>C, NG_012170.1:g.29987A>G

Select item 149071066812.

rs1490710668 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 6:57215083 (GRCh38)
6:57079881 (GRCh37)
Canonical SPDI:: NC_000006.12:57215082:AAA:AA
Gene:: RAB23 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
HGVS:: NC_000006.12:g.57215085del, NC_000006.11:g.57079883del, NG_012170.1:g.12198del

Select item 149054490013.

rs1490544900 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:57189841 (GRCh38)
6:57054639 (GRCh37)
Canonical SPDI:: NC_000006.12:57189840:G:A
Gene:: BAG2 (Varview), RAB23 (Varview)
Functional Consequence:: non_coding_transcript_variant,downstream_transcript_variant,3_prime_UTR_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000006.12:g.57189841G>A, NC_000006.11:g.57054639G>A, NG_012170.1:g.37440C>T, NM_016277.5:c.*620C>T, NM_016277.4:c.*620C>T, NM_183227.3:c.*620C>T, NM_183227.2:c.*620C>T, NM_001278667.2:c.*620C>T, NM_001278667.1:c.*620C>T, NM_001278668.2:c.*620C>T, NM_001278668.1:c.*620C>T, NM_001278666.2:c.*620C>T, NM_001278666.1:c.*620C>T, NR_103822.2:n.1186C>T, NR_103822.1:n.1193C>T

Select item 149041570314.

rs1490415703 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:57222947 (GRCh38)
6:57087745 (GRCh37)
Canonical SPDI:: NC_000006.12:57222946:T:C
Gene:: PRIM2 (Varview), RAB23 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.57222947T>C, NC_000006.11:g.57087745T>C, NG_012170.1:g.4334A>G

Select item 149030358615.

rs1490303586 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GG [Show Flanks]
Chromosome:: 6:57221627 (GRCh38)
6:57086425 (GRCh37)
Canonical SPDI:: NC_000006.12:57221626:GGGG:GGG,NC_000006.12:57221626:GGGG:GGGGG
Gene:: PRIM2 (Varview), RAB23 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGG=0./0 (ALFA)
-=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.57221630del, NC_000006.12:g.57221630dup, NC_000006.11:g.57086428del, NC_000006.11:g.57086428dup, NG_012170.1:g.5654del, NG_012170.1:g.5654dup, XM_047418987.1:c.-97del, XM_047418987.1:c.-97dup

Select item 149028724216.

rs1490287242 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 6:57201581 (GRCh38)
6:57066379 (GRCh37)
Canonical SPDI:: NC_000006.12:57201580:A:T
Gene:: RAB23 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000142/2 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.57201581A>T, NC_000006.11:g.57066379A>T, NG_012170.1:g.25700T>A

Select item 149012900917.

rs1490129009 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:57223270 (GRCh38)
6:57088068 (GRCh37)
Canonical SPDI:: NC_000006.12:57223269:G:T
Gene:: PRIM2 (Varview), RAB23 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000142/2 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.57223270G>T, NC_000006.11:g.57088068G>T, NG_012170.1:g.4011C>A

Select item 148992507618.

rs1489925076 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:57213375 (GRCh38)
6:57078173 (GRCh37)
Canonical SPDI:: NC_000006.12:57213374:G:A
Gene:: RAB23 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.57213375G>A, NC_000006.11:g.57078173G>A, NG_012170.1:g.13906C>T

Select item 148982637819.

rs1489826378 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 6:57205977 (GRCh38)
6:57070776 (GRCh37)
Canonical SPDI:: NC_000006.12:57205977:A:AA
Gene:: RAB23 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.57205978dup, NC_000006.11:g.57070776dup, NG_012170.1:g.21303dup

Select item 148981178120.

rs1489811781 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:57221954 (GRCh38)
6:57086752 (GRCh37)
Canonical SPDI:: NC_000006.12:57221953:G:T
Gene:: PRIM2 (Varview), RAB23 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.57221954G>T, NC_000006.11:g.57086752G>T, NG_012170.1:g.5327C>A, NM_016277.5:c.-294C>A, NM_016277.4:c.-294C>A

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