SNP Links for Protein (Select 46358403) - SNP

Select item 14906149091.

rs1490614909 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:5622947 (GRCh38)
7:5662578 (GRCh37)
Canonical SPDI:: NC_000007.14:5622946:C:A
Gene:: RNF216 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.5622947C>A, NC_000007.13:g.5662578C>A, NG_029374.2:g.163716G>T, NG_029374.1:g.163784G>T, NM_207111.4:c.2685G>T, NM_207111.3:c.2685G>T, NM_207116.3:c.2514G>T, NM_207116.2:c.2514G>T, NM_001377156.1:c.2514G>T, NM_019011.4:c.1380G>T, XM_005249785.3:c.2685G>T, XM_005249785.2:c.2685G>T, XM_005249785.1:c.2685G>T, NM_019011.3:c.1380G>T, NM_019011.2:c.1158G>T, XM_047420524.1:c.2685G>T, XM_047420525.1:c.2685G>T, XM_047420526.1:c.2514G>T, XM_047420529.1:c.1380G>T, NM_019011.1:c.1158G>T

Select item 14887644142.

rs1488764414 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 7:5741512 (GRCh38)
7:5781143 (GRCh37)
Canonical SPDI:: NC_000007.14:5741511:T:A
Gene:: RNF216 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.5741512T>A, NC_000007.13:g.5781143T>A, NG_029374.2:g.45151A>T, NG_029374.1:g.45219A>T, NM_207111.4:c.505A>T, NM_207111.3:c.505A>T, NM_207116.3:c.334A>T, NM_207116.2:c.334A>T, NM_001377156.1:c.334A>T, XM_005249785.3:c.505A>T, XM_005249785.2:c.505A>T, XM_005249785.1:c.505A>T, XM_047420524.1:c.505A>T, XM_047420525.1:c.505A>T, XM_047420526.1:c.334A>T, XM_047420527.1:c.505A>T, XM_047420528.1:c.505A>T, NP_996994.1:p.Ile169Phe, NP_996999.1:p.Ile112Phe, NP_001364085.1:p.Ile112Phe, XP_005249842.1:p.Ile169Phe, XP_047276480.1:p.Ile169Phe, XP_047276481.1:p.Ile169Phe, XP_047276482.1:p.Ile112Phe, XP_047276483.1:p.Ile169Phe, XP_047276484.1:p.Ile169Phe

Select item 14884109903.

rs1488410990 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 7:5725400 (GRCh38)
7:5765031 (GRCh37)
Canonical SPDI:: NC_000007.14:5725399:T:A
Gene:: RNF216 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.5725400T>A, NC_000007.13:g.5765031T>A, NG_029374.2:g.61263A>T, NG_029374.1:g.61331A>T, NM_207111.4:c.1428A>T, NM_207111.3:c.1428A>T, NM_207116.3:c.1257A>T, NM_207116.2:c.1257A>T, NM_001377156.1:c.1257A>T, NM_019011.4:c.123A>T, XM_005249785.3:c.1428A>T, XM_005249785.2:c.1428A>T, XM_005249785.1:c.1428A>T, NM_019011.3:c.123A>T, NM_019011.2:c.-100A>T, XM_047420524.1:c.1428A>T, XM_047420525.1:c.1428A>T, XM_047420526.1:c.1257A>T, XM_047420529.1:c.123A>T, XM_047420527.1:c.1428A>T, XM_047420528.1:c.1428A>T

Select item 14880544954.

rs1488054495 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 7:5712747 (GRCh38)
7:5752378 (GRCh37)
Canonical SPDI:: NC_000007.14:5712746:C:G,NC_000007.14:5712746:C:T
Gene:: RNF216 (Varview), MIR6874 (Varview)
Functional Consequence:: 2KB_upstream_variant,synonymous_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.5712747C>G, NC_000007.14:g.5712747C>T, NC_000007.13:g.5752378C>G, NC_000007.13:g.5752378C>T, NG_029374.2:g.73916G>C, NG_029374.2:g.73916G>A, NG_029374.1:g.73984G>C, NG_029374.1:g.73984G>A, NM_207111.4:c.1950G>C, NM_207111.4:c.1950G>A, NM_207111.3:c.1950G>C, NM_207111.3:c.1950G>A, NM_207116.3:c.1779G>C, NM_207116.3:c.1779G>A, NM_207116.2:c.1779G>C, NM_207116.2:c.1779G>A, NM_001377156.1:c.1779G>C, NM_001377156.1:c.1779G>A, NM_019011.4:c.645G>C, NM_019011.4:c.645G>A, XM_005249785.3:c.1950G>C, XM_005249785.3:c.1950G>A, XM_005249785.2:c.1950G>C, XM_005249785.2:c.1950G>A, XM_005249785.1:c.1950G>C, XM_005249785.1:c.1950G>A, NM_019011.3:c.645G>C, NM_019011.3:c.645G>A, NM_019011.2:c.423G>C, NM_019011.2:c.423G>A, XM_047420524.1:c.1950G>C, XM_047420524.1:c.1950G>A, XM_047420525.1:c.1950G>C, XM_047420525.1:c.1950G>A, XM_047420526.1:c.1779G>C, XM_047420526.1:c.1779G>A, XM_047420529.1:c.645G>C, XM_047420529.1:c.645G>A, XM_047420527.1:c.1950G>C, XM_047420527.1:c.1950G>A, XM_047420528.1:c.1950G>C, XM_047420528.1:c.1950G>A, NM_019011.1:c.423G>C, NM_019011.1:c.423G>A, NP_996994.1:p.Glu650Asp, NP_996999.1:p.Glu593Asp, NP_001364085.1:p.Glu593Asp, XP_005249842.1:p.Glu650Asp, XP_047276480.1:p.Glu650Asp, XP_047276481.1:p.Glu650Asp, XP_047276482.1:p.Glu593Asp, XP_047276485.1:p.Glu215Asp, XP_047276483.1:p.Glu650Asp, XP_047276484.1:p.Glu650Asp

Select item 14854356275.

rs1485435627 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:5652445 (GRCh38)
7:5692076 (GRCh37)
Canonical SPDI:: NC_000007.14:5652444:A:G
Gene:: RNF216 (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.5652445A>G, NC_000007.13:g.5692076A>G, NG_029374.2:g.134218T>C, NG_029374.1:g.134286T>C, NM_207111.4:c.2127T>C, NM_207111.3:c.2127T>C, NM_207116.3:c.1956T>C, NM_207116.2:c.1956T>C, NM_001377156.1:c.1956T>C, NM_019011.4:c.822T>C, XM_005249785.3:c.2127T>C, XM_005249785.2:c.2127T>C, XM_005249785.1:c.2127T>C, NM_019011.3:c.822T>C, NM_019011.2:c.600T>C, XM_047420524.1:c.2127T>C, XM_047420525.1:c.2127T>C, XM_047420526.1:c.1956T>C, XM_047420529.1:c.822T>C, XM_047420527.1:c.*69T>C, XM_047420528.1:c.*65T>C, NM_019011.1:c.600T>C

Select item 14827320436.

rs1482732043 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 7:5741078 (GRCh38)
7:5780709 (GRCh37)
Canonical SPDI:: NC_000007.14:5741077:T:A
Gene:: RNF216 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.5741078T>A, NC_000007.13:g.5780709T>A, NG_029374.2:g.45585A>T, NG_029374.1:g.45653A>T, NM_207111.4:c.939A>T, NM_207111.3:c.939A>T, NM_207116.3:c.768A>T, NM_207116.2:c.768A>T, NM_001377156.1:c.768A>T, XM_005249785.3:c.939A>T, XM_005249785.2:c.939A>T, XM_005249785.1:c.939A>T, XM_047420524.1:c.939A>T, XM_047420525.1:c.939A>T, XM_047420526.1:c.768A>T, XM_047420527.1:c.939A>T, XM_047420528.1:c.939A>T

Select item 14812748147.

rs1481274814 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 7:5741386 (GRCh38)
7:5781017 (GRCh37)
Canonical SPDI:: NC_000007.14:5741385:T:A
Gene:: RNF216 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000132/2 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000446/2 (Estonian)
HGVS:: NC_000007.14:g.5741386T>A, NC_000007.13:g.5781017T>A, NG_029374.2:g.45277A>T, NG_029374.1:g.45345A>T, NM_207111.4:c.631A>T, NM_207111.3:c.631A>T, NM_207116.3:c.460A>T, NM_207116.2:c.460A>T, NM_001377156.1:c.460A>T, XM_005249785.3:c.631A>T, XM_005249785.2:c.631A>T, XM_005249785.1:c.631A>T, XM_047420524.1:c.631A>T, XM_047420525.1:c.631A>T, XM_047420526.1:c.460A>T, XM_047420527.1:c.631A>T, XM_047420528.1:c.631A>T, NP_996994.1:p.Asn211Tyr, NP_996999.1:p.Asn154Tyr, NP_001364085.1:p.Asn154Tyr, XP_005249842.1:p.Asn211Tyr, XP_047276480.1:p.Asn211Tyr, XP_047276481.1:p.Asn211Tyr, XP_047276482.1:p.Asn154Tyr, XP_047276483.1:p.Asn211Tyr, XP_047276484.1:p.Asn211Tyr

Select item 14802357088.

rs1480235708 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:5761061 (GRCh38)
7:5800692 (GRCh37)
Canonical SPDI:: NC_000007.14:5761060:C:T
Gene:: RNF216 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000007.14:g.5761061C>T, NC_000007.13:g.5800692C>T, NG_029374.2:g.25602G>A, NG_029374.1:g.25670G>A, NM_207111.4:c.9G>A, NM_207111.3:c.9G>A, NM_207116.3:c.9G>A, NM_207116.2:c.9G>A, NM_001377156.1:c.9G>A, NM_019011.4:c.-243G>A, XM_005249785.3:c.9G>A, XM_005249785.2:c.9G>A, XM_005249785.1:c.9G>A, NM_019011.3:c.-244G>A, XM_047420524.1:c.9G>A, XM_047420525.1:c.9G>A, XM_047420526.1:c.9G>A, XM_047420529.1:c.-243G>A, XM_047420527.1:c.9G>A, XM_047420528.1:c.9G>A

Select item 14793419519.

rs1479341951 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:5623008 (GRCh38)
7:5662639 (GRCh37)
Canonical SPDI:: NC_000007.14:5623007:T:C
Gene:: RNF216 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.5623008T>C, NC_000007.13:g.5662639T>C, NG_029374.2:g.163655A>G, NG_029374.1:g.163723A>G, NM_207111.4:c.2624A>G, NM_207111.3:c.2624A>G, NM_207116.3:c.2453A>G, NM_207116.2:c.2453A>G, NM_001377156.1:c.2453A>G, NM_019011.4:c.1319A>G, XM_005249785.3:c.2624A>G, XM_005249785.2:c.2624A>G, XM_005249785.1:c.2624A>G, NM_019011.3:c.1319A>G, NM_019011.2:c.1097A>G, XM_047420524.1:c.2624A>G, XM_047420525.1:c.2624A>G, XM_047420526.1:c.2453A>G, XM_047420529.1:c.1319A>G, NM_019011.1:c.1097A>G, NP_996994.1:p.Asn875Ser, NP_996999.1:p.Asn818Ser, NP_001364085.1:p.Asn818Ser, XP_005249842.1:p.Asn875Ser, XP_047276480.1:p.Asn875Ser, XP_047276481.1:p.Asn875Ser, XP_047276482.1:p.Asn818Ser, XP_047276485.1:p.Asn440Ser

Select item 147660684010.

rs1476606840 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 7:5741027 (GRCh38)
7:5780658 (GRCh37)
Canonical SPDI:: NC_000007.14:5741026:CCCCC:CCCC
Gene:: RNF216 (Varview)
Functional Consequence:: frameshift_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.5741031del, NC_000007.13:g.5780662del, NG_029374.2:g.45636del, NG_029374.1:g.45704del, NM_207111.4:c.990del, NM_207111.3:c.990del, NM_207116.3:c.819del, NM_207116.2:c.819del, NM_001377156.1:c.819del, XM_005249785.3:c.990del, XM_005249785.2:c.990del, XM_005249785.1:c.990del, XM_047420524.1:c.990del, XM_047420525.1:c.990del, XM_047420526.1:c.819del, XM_047420527.1:c.990del, XM_047420528.1:c.990del, NP_996994.1:p.Gln331fs, NP_996999.1:p.Gln274fs, NP_001364085.1:p.Gln274fs, XP_005249842.1:p.Gln331fs, XP_047276480.1:p.Gln331fs, XP_047276481.1:p.Gln331fs, XP_047276482.1:p.Gln274fs, XP_047276483.1:p.Gln331fs, XP_047276484.1:p.Gln331fs

Select item 147644410011.

rs1476444100 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:5712810 (GRCh38)
7:5752441 (GRCh37)
Canonical SPDI:: NC_000007.14:5712809:C:T
Gene:: RNF216 (Varview), MIR6874 (Varview)
Functional Consequence:: synonymous_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (GnomAD_exomes)
T=0.000057/8 (GnomAD)
T=0.000079/21 (TOPMED)
HGVS:: NC_000007.14:g.5712810C>T, NC_000007.13:g.5752441C>T, NG_029374.2:g.73853G>A, NG_029374.1:g.73921G>A, NM_207111.4:c.1887G>A, NM_207111.3:c.1887G>A, NM_207116.3:c.1716G>A, NM_207116.2:c.1716G>A, NM_001377156.1:c.1716G>A, NM_019011.4:c.582G>A, XM_005249785.3:c.1887G>A, XM_005249785.2:c.1887G>A, XM_005249785.1:c.1887G>A, NM_019011.3:c.582G>A, NM_019011.2:c.360G>A, XM_047420524.1:c.1887G>A, XM_047420525.1:c.1887G>A, XM_047420526.1:c.1716G>A, XM_047420529.1:c.582G>A, XM_047420527.1:c.1887G>A, XM_047420528.1:c.1887G>A, NM_019011.1:c.360G>A

Select item 147579640112.

rs1475796401 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:5741566 (GRCh38)
7:5781197 (GRCh37)
Canonical SPDI:: NC_000007.14:5741565:G:C
Gene:: RNF216 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_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.5741566G>C, NC_000007.13:g.5781197G>C, NG_029374.2:g.45097C>G, NG_029374.1:g.45165C>G, NM_207111.4:c.451C>G, NM_207111.3:c.451C>G, NM_207116.3:c.280C>G, NM_207116.2:c.280C>G, NM_001377156.1:c.280C>G, XM_005249785.3:c.451C>G, XM_005249785.2:c.451C>G, XM_005249785.1:c.451C>G, XM_047420524.1:c.451C>G, XM_047420525.1:c.451C>G, XM_047420526.1:c.280C>G, XM_047420527.1:c.451C>G, XM_047420528.1:c.451C>G, NP_996994.1:p.Gln151Glu, NP_996999.1:p.Gln94Glu, NP_001364085.1:p.Gln94Glu, XP_005249842.1:p.Gln151Glu, XP_047276480.1:p.Gln151Glu, XP_047276481.1:p.Gln151Glu, XP_047276482.1:p.Gln94Glu, XP_047276483.1:p.Gln151Glu, XP_047276484.1:p.Gln151Glu

Select item 147283536513.

rs1472835365 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:5730767 (GRCh38)
7:5770398 (GRCh37)
Canonical SPDI:: NC_000007.14:5730766:C:G
Gene:: RNF216 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,5_prime_UTR_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000019/5 (TOPMED)
HGVS:: NC_000007.14:g.5730767C>G, NC_000007.13:g.5770398C>G, NG_029374.2:g.55896G>C, NG_029374.1:g.55964G>C, NM_207111.4:c.1172G>C, NM_207111.3:c.1172G>C, NM_207116.3:c.1001G>C, NM_207116.2:c.1001G>C, NM_001377156.1:c.1001G>C, NM_019011.4:c.-134G>C, XM_005249785.3:c.1172G>C, XM_005249785.2:c.1172G>C, XM_005249785.1:c.1172G>C, NM_019011.3:c.-135G>C, XM_047420524.1:c.1172G>C, XM_047420525.1:c.1172G>C, XM_047420526.1:c.1001G>C, XM_047420529.1:c.-134G>C, XM_047420527.1:c.1172G>C, XM_047420528.1:c.1172G>C, NP_996994.1:p.Arg391Thr, NP_996999.1:p.Arg334Thr, NP_001364085.1:p.Arg334Thr, XP_005249842.1:p.Arg391Thr, XP_047276480.1:p.Arg391Thr, XP_047276481.1:p.Arg391Thr, XP_047276482.1:p.Arg334Thr, XP_047276483.1:p.Arg391Thr, XP_047276484.1:p.Arg391Thr

Select item 147278658314.

rs1472786583 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:5761055 (GRCh38)
7:5800686 (GRCh37)
Canonical SPDI:: NC_000007.14:5761054:G:C
Gene:: RNF216 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.5761055G>C, NC_000007.13:g.5800686G>C, NG_029374.2:g.25608C>G, NG_029374.1:g.25676C>G, NM_207111.4:c.15C>G, NM_207111.3:c.15C>G, NM_207116.3:c.15C>G, NM_207116.2:c.15C>G, NM_001377156.1:c.15C>G, NM_019011.4:c.-237C>G, XM_005249785.3:c.15C>G, XM_005249785.2:c.15C>G, XM_005249785.1:c.15C>G, NM_019011.3:c.-238C>G, XM_047420524.1:c.15C>G, XM_047420525.1:c.15C>G, XM_047420526.1:c.15C>G, XM_047420529.1:c.-237C>G, XM_047420527.1:c.15C>G, XM_047420528.1:c.15C>G, NP_996994.1:p.Asn5Lys, NP_996999.1:p.Asn5Lys, NP_001364085.1:p.Asn5Lys, XP_005249842.1:p.Asn5Lys, XP_047276480.1:p.Asn5Lys, XP_047276481.1:p.Asn5Lys, XP_047276482.1:p.Asn5Lys, XP_047276483.1:p.Asn5Lys, XP_047276484.1:p.Asn5Lys

Select item 147114906615.

rs1471149066 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:5622982 (GRCh38)
7:5662613 (GRCh37)
Canonical SPDI:: NC_000007.14:5622981:G:T
Gene:: RNF216 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.5622982G>T, NC_000007.13:g.5662613G>T, NG_029374.2:g.163681C>A, NG_029374.1:g.163749C>A, NM_207111.4:c.2650C>A, NM_207111.3:c.2650C>A, NM_207116.3:c.2479C>A, NM_207116.2:c.2479C>A, NM_001377156.1:c.2479C>A, NM_019011.4:c.1345C>A, XM_005249785.3:c.2650C>A, XM_005249785.2:c.2650C>A, XM_005249785.1:c.2650C>A, NM_019011.3:c.1345C>A, NM_019011.2:c.1123C>A, XM_047420524.1:c.2650C>A, XM_047420525.1:c.2650C>A, XM_047420526.1:c.2479C>A, XM_047420529.1:c.1345C>A, NM_019011.1:c.1123C>A, NP_996994.1:p.Pro884Thr, NP_996999.1:p.Pro827Thr, NP_001364085.1:p.Pro827Thr, XP_005249842.1:p.Pro884Thr, XP_047276480.1:p.Pro884Thr, XP_047276481.1:p.Pro884Thr, XP_047276482.1:p.Pro827Thr, XP_047276485.1:p.Pro449Thr

Select item 147113002716.

rs1471130027 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 7:5741149 (GRCh38)
7:5780780 (GRCh37)
Canonical SPDI:: NC_000007.14:5741148:G:A,NC_000007.14:5741148:G:C,NC_000007.14:5741148:G:T
Gene:: RNF216 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
T=0.00006/1 (TOMMO)
HGVS:: NC_000007.14:g.5741149G>A, NC_000007.14:g.5741149G>C, NC_000007.14:g.5741149G>T, NC_000007.13:g.5780780G>A, NC_000007.13:g.5780780G>C, NC_000007.13:g.5780780G>T, NG_029374.2:g.45514C>T, NG_029374.2:g.45514C>G, NG_029374.2:g.45514C>A, NG_029374.1:g.45582C>T, NG_029374.1:g.45582C>G, NG_029374.1:g.45582C>A, NM_207111.4:c.868C>T, NM_207111.4:c.868C>G, NM_207111.4:c.868C>A, NM_207111.3:c.868C>T, NM_207111.3:c.868C>G, NM_207111.3:c.868C>A, NM_207116.3:c.697C>T, NM_207116.3:c.697C>G, NM_207116.3:c.697C>A, NM_207116.2:c.697C>T, NM_207116.2:c.697C>G, NM_207116.2:c.697C>A, NM_001377156.1:c.697C>T, NM_001377156.1:c.697C>G, NM_001377156.1:c.697C>A, XM_005249785.3:c.868C>T, XM_005249785.3:c.868C>G, XM_005249785.3:c.868C>A, XM_005249785.2:c.868C>T, XM_005249785.2:c.868C>G, XM_005249785.2:c.868C>A, XM_005249785.1:c.868C>T, XM_005249785.1:c.868C>G, XM_005249785.1:c.868C>A, XM_047420524.1:c.868C>T, XM_047420524.1:c.868C>G, XM_047420524.1:c.868C>A, XM_047420525.1:c.868C>T, XM_047420525.1:c.868C>G, XM_047420525.1:c.868C>A, XM_047420526.1:c.697C>T, XM_047420526.1:c.697C>G, XM_047420526.1:c.697C>A, XM_047420527.1:c.868C>T, XM_047420527.1:c.868C>G, XM_047420527.1:c.868C>A, XM_047420528.1:c.868C>T, XM_047420528.1:c.868C>G, XM_047420528.1:c.868C>A, NP_996994.1:p.Pro290Ser, NP_996994.1:p.Pro290Ala, NP_996994.1:p.Pro290Thr, NP_996999.1:p.Pro233Ser, NP_996999.1:p.Pro233Ala, NP_996999.1:p.Pro233Thr, NP_001364085.1:p.Pro233Ser, NP_001364085.1:p.Pro233Ala, NP_001364085.1:p.Pro233Thr, XP_005249842.1:p.Pro290Ser, XP_005249842.1:p.Pro290Ala, XP_005249842.1:p.Pro290Thr, XP_047276480.1:p.Pro290Ser, XP_047276480.1:p.Pro290Ala, XP_047276480.1:p.Pro290Thr, XP_047276481.1:p.Pro290Ser, XP_047276481.1:p.Pro290Ala, XP_047276481.1:p.Pro290Thr, XP_047276482.1:p.Pro233Ser, XP_047276482.1:p.Pro233Ala, XP_047276482.1:p.Pro233Thr, XP_047276483.1:p.Pro290Ser, XP_047276483.1:p.Pro290Ala, XP_047276483.1:p.Pro290Thr, XP_047276484.1:p.Pro290Ser, XP_047276484.1:p.Pro290Ala, XP_047276484.1:p.Pro290Thr

Select item 147075842717.

rs1470758427 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 7:5741491 (GRCh38)
7:5781122 (GRCh37)
Canonical SPDI:: NC_000007.14:5741490:G:A,NC_000007.14:5741490:G:C
Gene:: RNF216 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant,stop_gained
HGVS:: NC_000007.14:g.5741491G>A, NC_000007.14:g.5741491G>C, NC_000007.13:g.5781122G>A, NC_000007.13:g.5781122G>C, NG_029374.2:g.45172C>T, NG_029374.2:g.45172C>G, NG_029374.1:g.45240C>T, NG_029374.1:g.45240C>G, NM_207111.4:c.526C>T, NM_207111.4:c.526C>G, NM_207111.3:c.526C>T, NM_207111.3:c.526C>G, NM_207116.3:c.355C>T, NM_207116.3:c.355C>G, NM_207116.2:c.355C>T, NM_207116.2:c.355C>G, NM_001377156.1:c.355C>T, NM_001377156.1:c.355C>G, XM_005249785.3:c.526C>T, XM_005249785.3:c.526C>G, XM_005249785.2:c.526C>T, XM_005249785.2:c.526C>G, XM_005249785.1:c.526C>T, XM_005249785.1:c.526C>G, XM_047420524.1:c.526C>T, XM_047420524.1:c.526C>G, XM_047420525.1:c.526C>T, XM_047420525.1:c.526C>G, XM_047420526.1:c.355C>T, XM_047420526.1:c.355C>G, XM_047420527.1:c.526C>T, XM_047420527.1:c.526C>G, XM_047420528.1:c.526C>T, XM_047420528.1:c.526C>G, NP_996994.1:p.Gln176Ter, NP_996994.1:p.Gln176Glu, NP_996999.1:p.Gln119Ter, NP_996999.1:p.Gln119Glu, NP_001364085.1:p.Gln119Ter, NP_001364085.1:p.Gln119Glu, XP_005249842.1:p.Gln176Ter, XP_005249842.1:p.Gln176Glu, XP_047276480.1:p.Gln176Ter, XP_047276480.1:p.Gln176Glu, XP_047276481.1:p.Gln176Ter, XP_047276481.1:p.Gln176Glu, XP_047276482.1:p.Gln119Ter, XP_047276482.1:p.Gln119Glu, XP_047276483.1:p.Gln176Ter, XP_047276483.1:p.Gln176Glu, XP_047276484.1:p.Gln176Ter, XP_047276484.1:p.Gln176Glu

Select item 147030573418.

rs1470305734 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:5721111 (GRCh38)
7:5760742 (GRCh37)
Canonical SPDI:: NC_000007.14:5721110:G:A
Gene:: RNF216 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.5721111G>A, NC_000007.13:g.5760742G>A, NG_029374.2:g.65552C>T, NG_029374.1:g.65620C>T, NM_207111.4:c.1566C>T, NM_207111.3:c.1566C>T, NM_207116.3:c.1395C>T, NM_207116.2:c.1395C>T, NM_001377156.1:c.1395C>T, NM_019011.4:c.261C>T, XM_005249785.3:c.1566C>T, XM_005249785.2:c.1566C>T, XM_005249785.1:c.1566C>T, NM_019011.3:c.261C>T, NM_019011.2:c.39C>T, XM_047420524.1:c.1566C>T, XM_047420525.1:c.1566C>T, XM_047420526.1:c.1395C>T, XM_047420529.1:c.261C>T, XM_047420527.1:c.1566C>T, XM_047420528.1:c.1566C>T, NM_019011.1:c.39C>T

Select item 146946132919.

rs1469461329 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:5741482 (GRCh38)
7:5781113 (GRCh37)
Canonical SPDI:: NC_000007.14:5741481:T:C
Gene:: RNF216 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,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.5741482T>C, NC_000007.13:g.5781113T>C, NG_029374.2:g.45181A>G, NG_029374.1:g.45249A>G, NM_207111.4:c.535A>G, NM_207111.3:c.535A>G, NM_207116.3:c.364A>G, NM_207116.2:c.364A>G, NM_001377156.1:c.364A>G, XM_005249785.3:c.535A>G, XM_005249785.2:c.535A>G, XM_005249785.1:c.535A>G, XM_047420524.1:c.535A>G, XM_047420525.1:c.535A>G, XM_047420526.1:c.364A>G, XM_047420527.1:c.535A>G, XM_047420528.1:c.535A>G, NP_996994.1:p.Ile179Val, NP_996999.1:p.Ile122Val, NP_001364085.1:p.Ile122Val, XP_005249842.1:p.Ile179Val, XP_047276480.1:p.Ile179Val, XP_047276481.1:p.Ile179Val, XP_047276482.1:p.Ile122Val, XP_047276483.1:p.Ile179Val, XP_047276484.1:p.Ile179Val

Select item 146896590120.

rs1468965901 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:5725371 (GRCh38)
7:5765002 (GRCh37)
Canonical SPDI:: NC_000007.14:5725370:C:G
Gene:: RNF216 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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.5725371C>G, NC_000007.13:g.5765002C>G, NG_029374.2:g.61292G>C, NG_029374.1:g.61360G>C, NM_207111.4:c.1457G>C, NM_207111.3:c.1457G>C, NM_207116.3:c.1286G>C, NM_207116.2:c.1286G>C, NM_001377156.1:c.1286G>C, NM_019011.4:c.152G>C, XM_005249785.3:c.1457G>C, XM_005249785.2:c.1457G>C, XM_005249785.1:c.1457G>C, NM_019011.3:c.152G>C, NM_019011.2:c.-71G>C, XM_047420524.1:c.1457G>C, XM_047420525.1:c.1457G>C, XM_047420526.1:c.1286G>C, XM_047420529.1:c.152G>C, XM_047420527.1:c.1457G>C, XM_047420528.1:c.1457G>C, NP_996994.1:p.Arg486Thr, NP_996999.1:p.Arg429Thr, NP_001364085.1:p.Arg429Thr, XP_005249842.1:p.Arg486Thr, XP_047276480.1:p.Arg486Thr, XP_047276481.1:p.Arg486Thr, XP_047276482.1:p.Arg429Thr, XP_047276485.1:p.Arg51Thr, XP_047276483.1:p.Arg486Thr, XP_047276484.1:p.Arg486Thr

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Result Filters

Clinical Significance

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Annotation

Global MAF

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Items: 1 to 20 of 1034

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