SNP Links for Gene (Select 23644) - SNP

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Select item 14915719321.

rs1491571932 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 16:67879882 (GRCh38)
16:67913785 (GRCh37)
Canonical SPDI:: NC_000016.10:67879881:TA:
Gene:: EDC4 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by cluster
MAF:: -=0.00008/1 (GoESP)
HGVS:: NC_000016.10:g.67879882_67879883del, NC_000016.9:g.67913785_67913786del, NM_014329.5:c.1854_1855del, NM_014329.4:c.1854_1855del, NP_055144.3:p.Ser619fs

Select item 14914131172.

rs1491413117 has merged into rs1208303500 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTT>-,T,TT,TTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 16:67871172 (GRCh38)
16:67905075 (GRCh37)
Canonical SPDI:: NC_000016.10:67871162:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000016.10:67871162:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000016.10:67871162:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000016.10:67871162:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000016.10:67871162:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000016.10:67871162:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000016.10:67871162:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000016.10:67871162:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000016.10:67871162:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000016.10:67871162:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000016.10:67871162:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000016.10:67871162:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:67871162:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:67871162:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:67871162:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:67871162:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:67871162:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:67871162:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:67871162:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: NUTF2 (Varview), EDC4 (Varview)
Functional Consequence:: 3_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000016.10:g.67871172_67871184del, NC_000016.10:g.67871173_67871184del, NC_000016.10:g.67871174_67871184del, NC_000016.10:g.67871175_67871184del, NC_000016.10:g.67871177_67871184del, NC_000016.10:g.67871179_67871184del, NC_000016.10:g.67871180_67871184del, NC_000016.10:g.67871181_67871184del, NC_000016.10:g.67871182_67871184del, NC_000016.10:g.67871183_67871184del, NC_000016.10:g.67871184del, NC_000016.10:g.67871184dup, NC_000016.10:g.67871183_67871184dup, NC_000016.10:g.67871182_67871184dup, NC_000016.10:g.67871181_67871184dup, NC_000016.10:g.67871176_67871184dup, NC_000016.10:g.67871175_67871184dup, NC_000016.10:g.67871174_67871184dup, NC_000016.10:g.67871172_67871184dup, NC_000016.9:g.67905075_67905087del, NC_000016.9:g.67905076_67905087del, NC_000016.9:g.67905077_67905087del, NC_000016.9:g.67905078_67905087del, NC_000016.9:g.67905080_67905087del, NC_000016.9:g.67905082_67905087del, NC_000016.9:g.67905083_67905087del, NC_000016.9:g.67905084_67905087del, NC_000016.9:g.67905085_67905087del, NC_000016.9:g.67905086_67905087del, NC_000016.9:g.67905087del, NC_000016.9:g.67905087dup, NC_000016.9:g.67905086_67905087dup, NC_000016.9:g.67905085_67905087dup, NC_000016.9:g.67905084_67905087dup, NC_000016.9:g.67905079_67905087dup, NC_000016.9:g.67905078_67905087dup, NC_000016.9:g.67905077_67905087dup, NC_000016.9:g.67905075_67905087dup, NM_005796.3:c.*259_*271del, NM_005796.3:c.*260_*271del, NM_005796.3:c.*261_*271del, NM_005796.3:c.*262_*271del, NM_005796.3:c.*264_*271del, NM_005796.3:c.*266_*271del, NM_005796.3:c.*267_*271del, NM_005796.3:c.*268_*271del, NM_005796.3:c.*269_*271del, NM_005796.3:c.*270_*271del, NM_005796.3:c.*271del, NM_005796.3:c.*271dup, NM_005796.3:c.*270_*271dup, NM_005796.3:c.*269_*271dup, NM_005796.3:c.*268_*271dup, NM_005796.3:c.*263_*271dup, NM_005796.3:c.*262_*271dup, NM_005796.3:c.*261_*271dup, NM_005796.3:c.*259_*271dup, NM_005796.2:c.*259_*271del, NM_005796.2:c.*260_*271del, NM_005796.2:c.*261_*271del, NM_005796.2:c.*262_*271del, NM_005796.2:c.*264_*271del, NM_005796.2:c.*266_*271del, NM_005796.2:c.*267_*271del, NM_005796.2:c.*268_*271del, NM_005796.2:c.*269_*271del, NM_005796.2:c.*270_*271del, NM_005796.2:c.*271del, NM_005796.2:c.*271dup, NM_005796.2:c.*270_*271dup, NM_005796.2:c.*269_*271dup, NM_005796.2:c.*268_*271dup, NM_005796.2:c.*263_*271dup, NM_005796.2:c.*262_*271dup, NM_005796.2:c.*261_*271dup, NM_005796.2:c.*259_*271dup, NM_005796.1:c.*259_*271del, NM_005796.1:c.*260_*271del, NM_005796.1:c.*261_*271del, NM_005796.1:c.*262_*271del, NM_005796.1:c.*264_*271del, NM_005796.1:c.*266_*271del, NM_005796.1:c.*267_*271del, NM_005796.1:c.*268_*271del, NM_005796.1:c.*269_*271del, NM_005796.1:c.*270_*271del, NM_005796.1:c.*271del, NM_005796.1:c.*271dup, NM_005796.1:c.*270_*271dup, NM_005796.1:c.*269_*271dup, NM_005796.1:c.*268_*271dup, NM_005796.1:c.*263_*271dup, NM_005796.1:c.*262_*271dup, NM_005796.1:c.*261_*271dup, NM_005796.1:c.*259_*271dup, NM_001322041.2:c.*259_*271del, NM_001322041.2:c.*260_*271del, NM_001322041.2:c.*261_*271del, NM_001322041.2:c.*262_*271del, NM_001322041.2:c.*264_*271del, NM_001322041.2:c.*266_*271del, NM_001322041.2:c.*267_*271del, NM_001322041.2:c.*268_*271del, NM_001322041.2:c.*269_*271del, NM_001322041.2:c.*270_*271del, NM_001322041.2:c.*271del, NM_001322041.2:c.*271dup, NM_001322041.2:c.*270_*271dup, NM_001322041.2:c.*269_*271dup, NM_001322041.2:c.*268_*271dup, NM_001322041.2:c.*263_*271dup, NM_001322041.2:c.*262_*271dup, NM_001322041.2:c.*261_*271dup, NM_001322041.2:c.*259_*271dup, NM_001322041.1:c.*259_*271del, NM_001322041.1:c.*260_*271del, NM_001322041.1:c.*261_*271del, NM_001322041.1:c.*262_*271del, NM_001322041.1:c.*264_*271del, NM_001322041.1:c.*266_*271del, NM_001322041.1:c.*267_*271del, NM_001322041.1:c.*268_*271del, NM_001322041.1:c.*269_*271del, NM_001322041.1:c.*270_*271del, NM_001322041.1:c.*271del, NM_001322041.1:c.*271dup, NM_001322041.1:c.*270_*271dup, NM_001322041.1:c.*269_*271dup, NM_001322041.1:c.*268_*271dup, NM_001322041.1:c.*263_*271dup, NM_001322041.1:c.*262_*271dup, NM_001322041.1:c.*261_*271dup, NM_001322041.1:c.*259_*271dup, NM_001322040.2:c.*259_*271del, NM_001322040.2:c.*260_*271del, NM_001322040.2:c.*261_*271del, NM_001322040.2:c.*262_*271del, NM_001322040.2:c.*264_*271del, NM_001322040.2:c.*266_*271del, NM_001322040.2:c.*267_*271del, NM_001322040.2:c.*268_*271del, NM_001322040.2:c.*269_*271del, NM_001322040.2:c.*270_*271del, NM_001322040.2:c.*271del, NM_001322040.2:c.*271dup, NM_001322040.2:c.*270_*271dup, NM_001322040.2:c.*269_*271dup, NM_001322040.2:c.*268_*271dup, NM_001322040.2:c.*263_*271dup, NM_001322040.2:c.*262_*271dup, NM_001322040.2:c.*261_*271dup, NM_001322040.2:c.*259_*271dup, NM_001322040.1:c.*259_*271del, NM_001322040.1:c.*260_*271del, NM_001322040.1:c.*261_*271del, NM_001322040.1:c.*262_*271del, NM_001322040.1:c.*264_*271del, NM_001322040.1:c.*266_*271del, NM_001322040.1:c.*267_*271del, NM_001322040.1:c.*268_*271del, NM_001322040.1:c.*269_*271del, NM_001322040.1:c.*270_*271del, NM_001322040.1:c.*271del, NM_001322040.1:c.*271dup, NM_001322040.1:c.*270_*271dup, NM_001322040.1:c.*269_*271dup, NM_001322040.1:c.*268_*271dup, NM_001322040.1:c.*263_*271dup, NM_001322040.1:c.*262_*271dup, NM_001322040.1:c.*261_*271dup, NM_001322040.1:c.*259_*271dup, NM_001322039.2:c.*259_*271del, NM_001322039.2:c.*260_*271del, NM_001322039.2:c.*261_*271del, NM_001322039.2:c.*262_*271del, NM_001322039.2:c.*264_*271del, NM_001322039.2:c.*266_*271del, NM_001322039.2:c.*267_*271del, NM_001322039.2:c.*268_*271del, NM_001322039.2:c.*269_*271del, NM_001322039.2:c.*270_*271del, NM_001322039.2:c.*271del, NM_001322039.2:c.*271dup, NM_001322039.2:c.*270_*271dup, NM_001322039.2:c.*269_*271dup, NM_001322039.2:c.*268_*271dup, NM_001322039.2:c.*263_*271dup, NM_001322039.2:c.*262_*271dup, NM_001322039.2:c.*261_*271dup, NM_001322039.2:c.*259_*271dup, NM_001322039.1:c.*259_*271del, NM_001322039.1:c.*260_*271del, NM_001322039.1:c.*261_*271del, NM_001322039.1:c.*262_*271del, NM_001322039.1:c.*264_*271del, NM_001322039.1:c.*266_*271del, NM_001322039.1:c.*267_*271del, NM_001322039.1:c.*268_*271del, NM_001322039.1:c.*269_*271del, NM_001322039.1:c.*270_*271del, NM_001322039.1:c.*271del, NM_001322039.1:c.*271dup, NM_001322039.1:c.*270_*271dup, NM_001322039.1:c.*269_*271dup, NM_001322039.1:c.*268_*271dup, NM_001322039.1:c.*263_*271dup, NM_001322039.1:c.*262_*271dup, NM_001322039.1:c.*261_*271dup, NM_001322039.1:c.*259_*271dup, NM_001322038.2:c.*259_*271del, NM_001322038.2:c.*260_*271del, NM_001322038.2:c.*261_*271del, NM_001322038.2:c.*262_*271del, NM_001322038.2:c.*264_*271del, NM_001322038.2:c.*266_*271del, NM_001322038.2:c.*267_*271del, NM_001322038.2:c.*268_*271del, NM_001322038.2:c.*269_*271del, NM_001322038.2:c.*270_*271del, NM_001322038.2:c.*271del, NM_001322038.2:c.*271dup, NM_001322038.2:c.*270_*271dup, NM_001322038.2:c.*269_*271dup, NM_001322038.2:c.*268_*271dup, NM_001322038.2:c.*263_*271dup, NM_001322038.2:c.*262_*271dup, NM_001322038.2:c.*261_*271dup, NM_001322038.2:c.*259_*271dup, NM_001322038.1:c.*259_*271del, NM_001322038.1:c.*260_*271del, NM_001322038.1:c.*261_*271del, NM_001322038.1:c.*262_*271del, NM_001322038.1:c.*264_*271del, NM_001322038.1:c.*266_*271del, NM_001322038.1:c.*267_*271del, NM_001322038.1:c.*268_*271del, NM_001322038.1:c.*269_*271del, NM_001322038.1:c.*270_*271del, NM_001322038.1:c.*271del, NM_001322038.1:c.*271dup, NM_001322038.1:c.*270_*271dup, NM_001322038.1:c.*269_*271dup, NM_001322038.1:c.*268_*271dup, NM_001322038.1:c.*263_*271dup, NM_001322038.1:c.*262_*271dup, NM_001322038.1:c.*261_*271dup, NM_001322038.1:c.*259_*271dup

Select item 14912303523.

rs1491230352 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 16:67871162 (GRCh38)
16:67905065 (GRCh37)
Canonical SPDI:: NC_000016.10:67871161:CT:
Gene:: NUTF2 (Varview), EDC4 (Varview)
Functional Consequence:: 3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000084/1 (ALFA)
-=0.000041/5 (GnomAD)
HGVS:: NC_000016.10:g.67871162_67871163del, NC_000016.9:g.67905065_67905066del, NM_005796.3:c.*249_*250del, NM_005796.2:c.*249_*250del, NM_005796.1:c.*249_*250del, NM_001322041.2:c.*249_*250del, NM_001322041.1:c.*249_*250del, NM_001322040.2:c.*249_*250del, NM_001322040.1:c.*249_*250del, NM_001322039.2:c.*249_*250del, NM_001322039.1:c.*249_*250del, NM_001322038.2:c.*249_*250del, NM_001322038.1:c.*249_*250del

Select item 14907895434.

rs1490789543 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 16:67874971 (GRCh38)
16:67908874 (GRCh37)
Canonical SPDI:: NC_000016.10:67874970:T:C,NC_000016.10:67874970:T:G
Gene:: EDC4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.67874971T>C, NC_000016.10:g.67874971T>G, NC_000016.9:g.67908874T>C, NC_000016.9:g.67908874T>G

Select item 14907556195.

rs1490755619 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:67877697 (GRCh38)
16:67911600 (GRCh37)
Canonical SPDI:: NC_000016.10:67877696:T:C
Gene:: EDC4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.67877697T>C, NC_000016.9:g.67911600T>C

Select item 14907302496.

rs1490730249 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:67878762 (GRCh38)
16:67912665 (GRCh37)
Canonical SPDI:: NC_000016.10:67878761:G:C
Gene:: EDC4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.67878762G>C, NC_000016.9:g.67912665G>C, NM_014329.5:c.1210G>C, NM_014329.4:c.1210G>C, NP_055144.3:p.Val404Leu

Select item 14905903687.

rs1490590368 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:67883631 (GRCh38)
16:67917534 (GRCh37)
Canonical SPDI:: NC_000016.10:67883630:G:A
Gene:: EDC4 (Varview), NRN1L (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
HGVS:: NC_000016.10:g.67883631G>A, NC_000016.9:g.67917534G>A, NM_014329.5:c.3913G>A, NM_014329.4:c.3913G>A, NP_055144.3:p.Val1305Ile

Select item 14902391588.

rs1490239158 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:67878346 (GRCh38)
16:67912249 (GRCh37)
Canonical SPDI:: NC_000016.10:67878345:C:T
Gene:: EDC4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.67878346C>T, NC_000016.9:g.67912249C>T

Select item 14902276819.

rs1490227681 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 16:67872464 (GRCh38)
16:67906367 (GRCh37)
Canonical SPDI:: NC_000016.10:67872463:G:T
Gene:: NUTF2 (Varview), EDC4 (Varview)
Functional Consequence:: 3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.67872464G>T, NC_000016.9:g.67906367G>T, NM_005796.3:c.*1551G>T, NM_005796.2:c.*1551G>T, NM_001322041.2:c.*1551G>T, NM_001322041.1:c.*1551G>T, NM_001322040.2:c.*1551G>T, NM_001322040.1:c.*1551G>T, NM_001322039.2:c.*1551G>T, NM_001322039.1:c.*1551G>T, NM_001322038.2:c.*1551G>T, NM_001322038.1:c.*1551G>T

Select item 149019934710.

rs1490199347 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:67873165 (GRCh38)
16:67907068 (GRCh37)
Canonical SPDI:: NC_000016.10:67873164:T:C
Gene:: EDC4 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.67873165T>C, NC_000016.9:g.67907068T>C, NM_014329.5:c.-97T>C, NM_014329.4:c.-97T>C

Select item 148968164711.

rs1489681647 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:67872877 (GRCh38)
16:67906780 (GRCh37)
Canonical SPDI:: NC_000016.10:67872876:G:C
Gene:: NUTF2 (Varview), EDC4 (Varview)
Functional Consequence:: 2KB_upstream_variant,500B_downstream_variant,downstream_transcript_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_000016.10:g.67872877G>C, NC_000016.9:g.67906780G>C

Select item 148958527612.

rs1489585276 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTTCC>- [Show Flanks]
Chromosome:: 16:67875578 (GRCh38)
16:67909481 (GRCh37)
Canonical SPDI:: NC_000016.10:67875576:CCTTCC:C
Gene:: EDC4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.67875578_67875582del, NC_000016.9:g.67909481_67909485del

Select item 148944596413.

rs1489445964 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:67880291 (GRCh38)
16:67914194 (GRCh37)
Canonical SPDI:: NC_000016.10:67880290:C:T
Gene:: EDC4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.67880291C>T, NC_000016.9:g.67914194C>T

Select item 148912937714.

rs1489129377 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:67882405 (GRCh38)
16:67916308 (GRCh37)
Canonical SPDI:: NC_000016.10:67882404:C:T
Gene:: EDC4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000016.10:g.67882405C>T, NC_000016.9:g.67916308C>T

Select item 148903510715.

rs1489035107 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGTAGCAGCAGC>- [Show Flanks]
Chromosome:: 16:67879901 (GRCh38)
16:67913804 (GRCh37)
Canonical SPDI:: NC_000016.10:67879891:AGCAGCAGCAGTAGCAGCAGC:AGCAGCAGC
Gene:: EDC4 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion
Validated:: by frequency,by alfa,by cluster
MAF:: AGCAGCAGC=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000007/1 (GnomAD)
-=0.000035/1 (TOMMO)
HGVS:: NC_000016.10:g.67879901_67879912del, NC_000016.9:g.67913804_67913815del, NM_014329.5:c.1873_1884del, NM_014329.4:c.1873_1884del, NP_055144.3:p.Ser626_Ser629del

Select item 148903054616.

rs1489030546 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:67871933 (GRCh38)
16:67905836 (GRCh37)
Canonical SPDI:: NC_000016.10:67871932:G:A
Gene:: NUTF2 (Varview), EDC4 (Varview)
Functional Consequence:: 3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.67871933G>A, NC_000016.9:g.67905836G>A, NM_005796.3:c.*1020G>A, NM_005796.2:c.*1020G>A, NM_001322041.2:c.*1020G>A, NM_001322041.1:c.*1020G>A, NM_001322040.2:c.*1020G>A, NM_001322040.1:c.*1020G>A, NM_001322039.2:c.*1020G>A, NM_001322039.1:c.*1020G>A, NM_001322038.2:c.*1020G>A, NM_001322038.1:c.*1020G>A

Select item 148888059017.

rs1488880590 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:67884014 (GRCh38)
16:67917917 (GRCh37)
Canonical SPDI:: NC_000016.10:67884013:A:G
Gene:: EDC4 (Varview), NRN1L (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.67884014A>G, NC_000016.9:g.67917917A>G, NM_014329.5:c.4072A>G, NM_014329.4:c.4072A>G, NP_055144.3:p.Met1358Val

Select item 148875254118.

rs1488752541 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:67877265 (GRCh38)
16:67911168 (GRCh37)
Canonical SPDI:: NC_000016.10:67877264:C:T
Gene:: EDC4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000016.10:g.67877265C>T, NC_000016.9:g.67911168C>T, NM_014329.5:c.500C>T, NM_014329.4:c.500C>T, NP_055144.3:p.Ser167Leu

Select item 148863838119.

rs1488638381 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:67877809 (GRCh38)
16:67911712 (GRCh37)
Canonical SPDI:: NC_000016.10:67877808:C:T
Gene:: EDC4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.67877809C>T, NC_000016.9:g.67911712C>T, NM_014329.5:c.858C>T, NM_014329.4:c.858C>T

Select item 148844431920.

rs1488444319 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:67876559 (GRCh38)
16:67910462 (GRCh37)
Canonical SPDI:: NC_000016.10:67876558:G:A
Gene:: EDC4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.67876559G>A, NC_000016.9:g.67910462G>A, NM_014329.5:c.311G>A, NM_014329.4:c.311G>A, NP_055144.3:p.Ser104Asn

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