SNP Links for Gene (Select 101928343) - SNP

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Select item 14913414591.

rs1491341459 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->CTC
Chromosome:: no mapping
Canonical SPDI:

Select item 14910974352.

rs1491097435 has merged into rs148872036 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTCTCTCTCTCTCTCT>-,CTCT,CTCTCT,CTCTCTCT,CTCTCTCTCT,CTCTCTCTCTCT,CTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT [Show Flanks]
Chromosome:: 17:74612263 (GRCh38)
17:72608402 (GRCh37)
Canonical SPDI:: NC_000017.11:74612247:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCT,NC_000017.11:74612247:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCT,NC_000017.11:74612247:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCT,NC_000017.11:74612247:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCT,NC_000017.11:74612247:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCT,NC_000017.11:74612247:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000017.11:74612247:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000017.11:74612247:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000017.11:74612247:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000017.11:74612247:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000017.11:74612247:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000017.11:74612247:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000017.11:74612247:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000017.11:74612247:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000017.11:74612247:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000017.11:74612247:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000017.11:74612247:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000017.11:74612247:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000017.11:74612247:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000017.11:74612247:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000017.11:74612247:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000017.11:74612247:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000017.11:74612247:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000017.11:74612247:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000017.11:74612247:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000017.11:74612247:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000017.11:74612247:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT
Gene:: CD300E (Varview), LOC101928343 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTCTCTCTCTCTCTCTCTCT=0./0 (ALFA)
HGVS:: NC_000017.11:g.74612249CT[7], NC_000017.11:g.74612249CT[9], NC_000017.11:g.74612249CT[10], NC_000017.11:g.74612249CT[11], NC_000017.11:g.74612249CT[12], NC_000017.11:g.74612249CT[13], NC_000017.11:g.74612249CT[14], NC_000017.11:g.74612249CT[16], NC_000017.11:g.74612249CT[17], NC_000017.11:g.74612249CT[18], NC_000017.11:g.74612249CT[19], NC_000017.11:g.74612249CT[20], NC_000017.11:g.74612249CT[21], NC_000017.11:g.74612249CT[22], NC_000017.11:g.74612249CT[23], NC_000017.11:g.74612249CT[24], NC_000017.11:g.74612249CT[25], NC_000017.11:g.74612249CT[26], NC_000017.11:g.74612249CT[27], NC_000017.11:g.74612249CT[28], NC_000017.11:g.74612249CT[29], NC_000017.11:g.74612249CT[30], NC_000017.11:g.74612249CT[31], NC_000017.11:g.74612249CT[32], NC_000017.11:g.74612249CT[33], NC_000017.11:g.74612249CT[36], NC_000017.11:g.74612249CT[37], NC_000017.10:g.72608388CT[7], NC_000017.10:g.72608388CT[9], NC_000017.10:g.72608388CT[10], NC_000017.10:g.72608388CT[11], NC_000017.10:g.72608388CT[12], NC_000017.10:g.72608388CT[13], NC_000017.10:g.72608388CT[14], NC_000017.10:g.72608388CT[16], NC_000017.10:g.72608388CT[17], NC_000017.10:g.72608388CT[18], NC_000017.10:g.72608388CT[19], NC_000017.10:g.72608388CT[20], NC_000017.10:g.72608388CT[21], NC_000017.10:g.72608388CT[22], NC_000017.10:g.72608388CT[23], NC_000017.10:g.72608388CT[24], NC_000017.10:g.72608388CT[25], NC_000017.10:g.72608388CT[26], NC_000017.10:g.72608388CT[27], NC_000017.10:g.72608388CT[28], NC_000017.10:g.72608388CT[29], NC_000017.10:g.72608388CT[30], NC_000017.10:g.72608388CT[31], NC_000017.10:g.72608388CT[32], NC_000017.10:g.72608388CT[33], NC_000017.10:g.72608388CT[36], NC_000017.10:g.72608388CT[37], NM_181449.3:c.*376GA[7], NM_181449.3:c.*376GA[9], NM_181449.3:c.*376GA[10], NM_181449.3:c.*376GA[11], NM_181449.3:c.*376GA[12], NM_181449.3:c.*376GA[13], NM_181449.3:c.*376GA[14], NM_181449.3:c.*376GA[16], NM_181449.3:c.*376GA[17], NM_181449.3:c.*376GA[18], NM_181449.3:c.*376GA[19], NM_181449.3:c.*376GA[20], NM_181449.3:c.*376GA[21], NM_181449.3:c.*376GA[22], NM_181449.3:c.*376GA[23], NM_181449.3:c.*376GA[24], NM_181449.3:c.*376GA[25], NM_181449.3:c.*376GA[26], NM_181449.3:c.*376GA[27], NM_181449.3:c.*376GA[28], NM_181449.3:c.*376GA[29], NM_181449.3:c.*376GA[30], NM_181449.3:c.*376GA[31], NM_181449.3:c.*376GA[32], NM_181449.3:c.*376GA[33], NM_181449.3:c.*376GA[36], NM_181449.3:c.*376GA[37], NM_181449.2:c.*376GA[7], NM_181449.2:c.*376GA[9], NM_181449.2:c.*376GA[10], NM_181449.2:c.*376GA[11], NM_181449.2:c.*376GA[12], NM_181449.2:c.*376GA[13], NM_181449.2:c.*376GA[14], NM_181449.2:c.*376GA[16], NM_181449.2:c.*376GA[17], NM_181449.2:c.*376GA[18], NM_181449.2:c.*376GA[19], NM_181449.2:c.*376GA[20], NM_181449.2:c.*376GA[21], NM_181449.2:c.*376GA[22], NM_181449.2:c.*376GA[23], NM_181449.2:c.*376GA[24], NM_181449.2:c.*376GA[25], NM_181449.2:c.*376GA[26], NM_181449.2:c.*376GA[27], NM_181449.2:c.*376GA[28], NM_181449.2:c.*376GA[29], NM_181449.2:c.*376GA[30], NM_181449.2:c.*376GA[31], NM_181449.2:c.*376GA[32], NM_181449.2:c.*376GA[33], NM_181449.2:c.*376GA[36], NM_181449.2:c.*376GA[37]

Select item 14909569963.

rs1490956996 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:74602616 (GRCh38)
17:72598755 (GRCh37)
Canonical SPDI:: NC_000017.11:74602615:T:C
Gene:: LOC101928343 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000049/13 (TOPMED)
C=0.00015/21 (GnomAD)
HGVS:: NC_000017.11:g.74602616T>C, NC_000017.10:g.72598755T>C

Select item 14908754834.

rs1490875483 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 17:74606556 (GRCh38)
17:72602695 (GRCh37)
Canonical SPDI:: NC_000017.11:74606555:C:A,NC_000017.11:74606555:C:G
Gene:: LOC101928343 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.74606556C>A, NC_000017.11:g.74606556C>G, NC_000017.10:g.72602695C>A, NC_000017.10:g.72602695C>G, NR_158152.1:n.2433C>A, NR_158152.1:n.2433C>G

Select item 14904378885.

rs1490437888 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:74615388 (GRCh38)
17:72611527 (GRCh37)
Canonical SPDI:: NC_000017.11:74615387:G:A
Gene:: CD300E (Varview), LOC101928343 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.74615388G>A, NC_000017.10:g.72611527G>A

Select item 14903583366.

rs1490358336 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:74607666 (GRCh38)
17:72603805 (GRCh37)
Canonical SPDI:: NC_000017.11:74607665:C:T
Gene:: LOC101928343 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000017.11:g.74607666C>T, NC_000017.10:g.72603805C>T

Select item 14902838457.

rs1490283845 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:74623929 (GRCh38)
17:72620068 (GRCh37)
Canonical SPDI:: NC_000017.11:74623928:T:C
Gene:: CD300E (Varview), LOC101928343 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,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_000017.11:g.74623929T>C, NC_000017.10:g.72620068T>C

Select item 14902461118.

rs1490246111 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:74601195 (GRCh38)
17:72597334 (GRCh37)
Canonical SPDI:: NC_000017.11:74601194:G:A
Gene:: LOC101928343 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.74601195G>A, NC_000017.10:g.72597334G>A

Select item 14900951719.

rs1490095171 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:74609607 (GRCh38)
17:72605746 (GRCh37)
Canonical SPDI:: NC_000017.11:74609606:C:T
Gene:: CD300E (Varview), LOC101928343 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000017.11:g.74609607C>T, NC_000017.10:g.72605746C>T

Select item 149005676910.

rs1490056769 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:74608171 (GRCh38)
17:72604310 (GRCh37)
Canonical SPDI:: NC_000017.11:74608170:A:T
Gene:: LOC101928343 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000017.11:g.74608171A>T, NC_000017.10:g.72604310A>T

Select item 149003604811.

rs1490036048 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:74621743 (GRCh38)
17:72617882 (GRCh37)
Canonical SPDI:: NC_000017.11:74621742:T:G
Gene:: CD300E (Varview), LOC101928343 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000017.11:g.74621743T>G, NC_000017.10:g.72617882T>G

Select item 149001777412.

rs1490017774 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:74615026 (GRCh38)
17:72611165 (GRCh37)
Canonical SPDI:: NC_000017.11:74615025:A:G
Gene:: CD300E (Varview), LOC101928343 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000017.11:g.74615026A>G, NC_000017.10:g.72611165A>G

Select item 148997017913.

rs1489970179 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 17:74614102 (GRCh38)
17:72610241 (GRCh37)
Canonical SPDI:: NC_000017.11:74614101:A:G,NC_000017.11:74614101:A:T
Gene:: CD300E (Varview), LOC101928343 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.74614102A>G, NC_000017.11:g.74614102A>T, NC_000017.10:g.72610241A>G, NC_000017.10:g.72610241A>T

Select item 148977838614.

rs1489778386 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:74603575 (GRCh38)
17:72599714 (GRCh37)
Canonical SPDI:: NC_000017.11:74603574:G:A,NC_000017.11:74603574:G:C
Gene:: LOC101928343 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000017.11:g.74603575G>A, NC_000017.11:g.74603575G>C, NC_000017.10:g.72599714G>A, NC_000017.10:g.72599714G>C

Select item 148971447115.

rs1489714471 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:74600842 (GRCh38)
17:72596981 (GRCh37)
Canonical SPDI:: NC_000017.11:74600841:C:G
Gene:: LOC101928343 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.74600842C>G, NC_000017.10:g.72596981C>G

Select item 148969105816.

rs1489691058 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:74602446 (GRCh38)
17:72598585 (GRCh37)
Canonical SPDI:: NC_000017.11:74602445:G:C
Gene:: LOC101928343 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000019/5 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000017.11:g.74602446G>C, NC_000017.10:g.72598585G>C

Select item 148961117817.

rs1489611178 [Homo sapiens]

Variant type:: DEL
Alleles:: AGATGATAGATAGATAGATA>- [Show Flanks]
Chromosome:: 17:74600300 (GRCh38)
17:72596439 (GRCh37)
Canonical SPDI:: NC_000017.11:74600299:AGATGATAGATAGATAGATA:
Gene:: LOC101928343 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000017.11:g.74600300_74600319del, NC_000017.10:g.72596439_72596458del

Select item 148957524818.

rs1489575248 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 17:74606706 (GRCh38)
17:72602845 (GRCh37)
Canonical SPDI:: NC_000017.11:74606705:GG:G
Gene:: LOC101928343 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000029/4 (GnomAD)
HGVS:: NC_000017.11:g.74606707del, NC_000017.10:g.72602846del

Select item 148944742119.

rs1489447421 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:74625265 (GRCh38)
17:72621404 (GRCh37)
Canonical SPDI:: NC_000017.11:74625264:C:A
Gene:: CD300E (Varview), LOC101928343 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.74625265C>A, NC_000017.10:g.72621404C>A

Select item 148941281020.

rs1489412810 [Homo sapiens]

Variant type:: DELINS
Alleles:: GATAGATAGATGAT>- [Show Flanks]
Chromosome:: 17:74600293 (GRCh38)
17:72596432 (GRCh37)
Canonical SPDI:: NC_000017.11:74600289:GATGATAGATAGATGAT:GAT
Gene:: LOC101928343 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GAT=0./0 (ALFA)
HGVS:: NC_000017.11:g.74600293_74600306del, NC_000017.10:g.72596432_72596445del

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