SNP Links for Gene (Select 63974) - SNP

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Select item 14915688651.

rs1491568865 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TTATA,TTATAGTAATCTCTTTCTA [Show Flanks]
Chromosome:: 7:31342116 (GRCh38)
7:31381731 (GRCh37)
Canonical SPDI:: NC_000007.14:31342116:A:ATTATA,NC_000007.14:31342116:A:ATTATAGTAATCTCTTTCTA
Gene:: NEUROD6 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATTATAGTAATCTCTTTCTA=0./0 (ALFA)
ATTAT=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.31342117_31342118insTTATA, NC_000007.14:g.31342117_31342118insTTATAGTAATCTCTTTCTA, NC_000007.13:g.31381731_31381732insTTATA, NC_000007.13:g.31381731_31381732insTTATAGTAATCTCTTTCTA

Select item 14912252382.

rs1491225238 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 7:31342121 (GRCh38)
7:31381735 (GRCh37)
Canonical SPDI:: NC_000007.14:31342115:GAGAGAG:GAGAG
Gene:: NEUROD6 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAGAG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.31342117AG[2], NC_000007.13:g.31381731AG[2]

Select item 14891933493.

rs1489193349 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:31337587 (GRCh38)
7:31377201 (GRCh37)
Canonical SPDI:: NC_000007.14:31337586:T:C
Gene:: NEUROD6 (Varview)
Functional Consequence:: 3_prime_UTR_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_000007.14:g.31337587T>C, NC_000007.13:g.31377201T>C, NM_022728.4:c.*668A>G, NM_022728.3:c.*668A>G

Select item 14886856894.

rs1488685689 [Homo sapiens]

Variant type:: DEL
Alleles:: TTTTTAAAAAGC>- [Show Flanks]
Chromosome:: 7:31342502 (GRCh38)
7:31382116 (GRCh37)
Canonical SPDI:: NC_000007.14:31342501:TTTTTAAAAAGC:
Gene:: NEUROD6 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.31342502_31342513del, NC_000007.13:g.31382116_31382127del

Select item 14881531455.

rs1488153145 [Homo sapiens]

Variant type:: SNV:
Alleles:: C>T
Chromosome:: no mapping
Canonical SPDI:

Select item 14875387156.

rs1487538715 [Homo sapiens]

Variant type:: INS
Alleles:: ->AACCT [Show Flanks]
Chromosome:: 7:31338334 (GRCh38)
7:31377949 (GRCh37)
Canonical SPDI:: NC_000007.14:31338334::AACCT
Gene:: NEUROD6 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AACCT=0.000111/1 (ALFA)
AACCT=0.000021/3 (GnomAD)
HGVS:: NC_000007.14:g.31338334_31338335insAACCT, NC_000007.13:g.31377948_31377949insAACCT, NM_022728.4:c.934_935insAGGTT, NM_022728.3:c.934_935insAGGTT, NP_073565.2:p.Ser312fs

Select item 14862524007.

rs1486252400 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:31339466 (GRCh38)
7:31379080 (GRCh37)
Canonical SPDI:: NC_000007.14:31339465:A:G
Gene:: NEUROD6 (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_000007.14:g.31339466A>G, NC_000007.13:g.31379080A>G

Select item 14861502668.

rs1486150266 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:31339135 (GRCh38)
7:31378749 (GRCh37)
Canonical SPDI:: NC_000007.14:31339134:C:T
Gene:: NEUROD6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000031/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.31339135C>T, NC_000007.13:g.31378749C>T, NM_022728.4:c.134G>A, NM_022728.3:c.134G>A, NP_073565.2:p.Gly45Glu

Select item 14861193699.

rs1486119369 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 7:31341588 (GRCh38)
7:31381202 (GRCh37)
Canonical SPDI:: NC_000007.14:31341587:A:C
Gene:: NEUROD6 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000036/5 (GnomAD)
C=0.000038/10 (TOPMED)
HGVS:: NC_000007.14:g.31341588A>C, NC_000007.13:g.31381202A>C

Select item 148559819010.

rs1485598190 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:31338175 (GRCh38)
7:31377789 (GRCh37)
Canonical SPDI:: NC_000007.14:31338174:A:G
Gene:: NEUROD6 (Varview)
Functional Consequence:: 3_prime_UTR_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_000007.14:g.31338175A>G, NC_000007.13:g.31377789A>G, NM_022728.4:c.*80T>C, NM_022728.3:c.*80T>C

Select item 148495528711.

rs1484955287 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 7:31339715 (GRCh38)
7:31379329 (GRCh37)
Canonical SPDI:: NC_000007.14:31339714:T:A,NC_000007.14:31339714:T:C
Gene:: NEUROD6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.31339715T>A, NC_000007.14:g.31339715T>C, NC_000007.13:g.31379329T>A, NC_000007.13:g.31379329T>C

Select item 148418638712.

rs1484186387 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATT>- [Show Flanks]
Chromosome:: 7:31338239 (GRCh38)
7:31377853 (GRCh37)
Canonical SPDI:: NC_000007.14:31338236:TTATT:TT
Gene:: NEUROD6 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0.000071/1 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000014/2 (GnomAD)
-=0.000015/4 (TOPMED)
HGVS:: NC_000007.14:g.31338239_31338241del, NC_000007.13:g.31377853_31377855del, NM_022728.4:c.*16_*18del, NM_022728.3:c.*16_*18del

Select item 148404898413.

rs1484048984 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 7:31341498 (GRCh38)
7:31381112 (GRCh37)
Canonical SPDI:: NC_000007.14:31341497:A:C
Gene:: NEUROD6 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.31341498A>C, NC_000007.13:g.31381112A>C

Select item 148268903414.

rs1482689034 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 7:31341160 (GRCh38)
7:31380774 (GRCh37)
Canonical SPDI:: NC_000007.14:31341159:A:C
Gene:: NEUROD6 (Varview)
Functional Consequence:: 2KB_upstream_variant,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_000007.14:g.31341160A>C, NC_000007.13:g.31380774A>C

Select item 148252432415.

rs1482524324 has merged into rs1156611096 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA [Show Flanks]
Chromosome:: 7:31342032 (GRCh38)
7:31381646 (GRCh37)
Canonical SPDI:: NC_000007.14:31342031:AAAAAAAA:AAAAAAA,NC_000007.14:31342031:AAAAAAAA:AAAAAAAAA
Gene:: NEUROD6 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000007.14:g.31342039del, NC_000007.14:g.31342039dup, NC_000007.13:g.31381653del, NC_000007.13:g.31381653dup

Select item 148218953416.

rs1482189534 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:31337485 (GRCh38)
7:31377099 (GRCh37)
Canonical SPDI:: NC_000007.14:31337484:T:C
Gene:: NEUROD6 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.31337485T>C, NC_000007.13:g.31377099T>C, NM_022728.4:c.*770A>G, NM_022728.3:c.*770A>G

Select item 148086140317.

rs1480861403 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 7:31339795 (GRCh38)
7:31379409 (GRCh37)
Canonical SPDI:: NC_000007.14:31339794:A:C
Gene:: NEUROD6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.31339795A>C, NC_000007.13:g.31379409A>C

Select item 147873845318.

rs1478738453 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:31342562 (GRCh38)
7:31382176 (GRCh37)
Canonical SPDI:: NC_000007.14:31342561:T:C
Gene:: NEUROD6 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.31342562T>C, NC_000007.13:g.31382176T>C

Select item 147871474619.

rs1478714746 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:31337658 (GRCh38)
7:31377272 (GRCh37)
Canonical SPDI:: NC_000007.14:31337657:T:C
Gene:: NEUROD6 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000007.14:g.31337658T>C, NC_000007.13:g.31377272T>C, NM_022728.4:c.*597A>G, NM_022728.3:c.*597A>G

Select item 147832807320.

rs1478328073 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 7:31339293 (GRCh38)
7:31378907 (GRCh37)
Canonical SPDI:: NC_000007.14:31339292:A:C
Gene:: NEUROD6 (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_000007.14:g.31339293A>C, NC_000007.13:g.31378907A>C

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